#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
TAS1R3	83756	broad.mit.edu	37	1	1268136	1268136	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:1268136C>T	ENST00000339381.5	+	3	1257	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	409					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CAACACTCTTCAGTGCAACGC	0.637																																						uc010nyk.1		NaN																	0					0						c.(1225-1227)CAG>TAG		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)						28.0	28.0	28.0					1																	1268136		2197	4298	6495	SO:0001587	stop_gained	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1268136C>T	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1225C>T	1.37:g.1268136C>T	ENSP00000344411:p.Gln409*						p.Q409*	NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	3	1225	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	409			Extracellular (Potential).		Q5TA49|Q8NGW9	Nonsense_Mutation	SNP	ENST00000339381.5	37	c.1225C>T	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889768	0.52014	.	.	ENSG00000169962	ENST00000339381	.	.	.	4.74	2.71	0.32032	.	1.794010	0.02862	N	0.130391	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	15.5383	0.76021	0.0:0.6448:0.3552:0.0	.	.	.	.	X	409	.	ENSP00000344411:Q409X	Q	+	1	0	TAS1R3	1257999	0.000000	0.05858	0.009000	0.14445	0.017000	0.09413	0.377000	0.20552	0.941000	0.37499	0.561000	0.74099	CAG		0.637	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1				15	51	0	0	0	0.006122	0	15	51		
C1orf86	199990	broad.mit.edu	37	1	2125221	2125221	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:2125221C>T	ENST00000378546.4	-	3	351	c.327G>A	c.(325-327)ggG>ggA	p.G109G	C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000378545.3_Silent_p.G212G|C1orf86_ENST00000400919.3_5'UTR	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	109					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		ATTCCAGGTGCCCTCCTGCCC	0.701																																						uc001aiy.2		NaN																	0					0						c.(325-327)GGG>GGA		hypothetical protein LOC199990 isoform 2							17.0	23.0	21.0					1																	2125221		2192	4290	6482	SO:0001819	synonymous_variant	199990							g.chr1:2125221C>T	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.327G>A	1.37:g.2125221C>T						C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Missense_Mutation_p.G105D	p.G109G	NM_182533	NP_872339	Q6NZ36	CA086_HUMAN		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	3	353	-	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	109					A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Silent	SNP	ENST00000378546.4	37	c.327G>A	CCDS38.2	.	.	.	.	.	.	.	.	.	.	C	9.642	1.139352	0.21205	.	.	ENSG00000162585	ENST00000378543;ENST00000420515	T	0.55052	0.54	3.43	-3.76	0.04359	.	1.296750	0.05653	N	0.585515	T	0.33962	0.0881	.	.	.	0.09310	N	1	B	0.16603	0.018	B	0.16289	0.015	T	0.31724	-0.9933	9	0.87932	D	0	-12.4529	0.9456	0.01365	0.1616:0.2317:0.3435:0.2632	.	105	Q6ZRT9	.	D	64;109	ENSP00000409721:G109D	ENSP00000367804:G64D	G	-	2	0	C1orf86	2115081	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.768000	0.01794	-0.485000	0.06754	-0.379000	0.06801	GGC		0.701	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1		NM_182533		16	28	0	0	0	0.003163	0	16	28		
MMEL1	79258	broad.mit.edu	37	1	2526322	2526322	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:2526322G>A	ENST00000378412.3	-	17	1756	c.1595C>T	c.(1594-1596)tCa>tTa	p.S532L	MMEL1_ENST00000502556.1_Missense_Mutation_p.S375L|MMEL1_ENST00000288709.6_Missense_Mutation_p.S523L			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	532						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CAGGTCCTCTGAGAAGTTCAG	0.607																																						uc001ajy.2		NaN																	0					0						c.(1594-1596)TCA>TTA		membrane metallo-endopeptidase-like 1							56.0	59.0	58.0					1																	2526322		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2526322G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1595C>T	1.37:g.2526322G>A	ENSP00000367668:p.Ser532Leu					MMEL1_uc009vlg.1_RNA	p.S532L	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	17	1809	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	532			Potential.|Lumenal (Potential).		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.1595C>T	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422663	0.62733	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.83075	-1.68;-1.68;-1.68	4.91	3.98	0.46160	.	1.128610	0.06569	N	0.748264	D	0.83487	0.5265	M	0.82323	2.585	0.50171	D	0.99985	P	0.37548	0.599	B	0.38156	0.266	T	0.71682	-0.4519	10	0.11794	T	0.64	-5.819	9.0649	0.36458	0.0:0.2672:0.5845:0.1484	.	532	Q495T6	MMEL1_HUMAN	L	375;523;532;375	ENSP00000288709:S523L;ENSP00000367668:S532L;ENSP00000422492:S375L	ENSP00000288709:S523L	S	-	2	0	MMEL1	2516182	0.991000	0.36638	0.842000	0.33263	0.899000	0.52679	2.502000	0.45398	1.157000	0.42530	0.655000	0.94253	TCA		0.607	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2		NM_033467		47	41	0	0	0	0.00361	0	47	41		
PER3	8863	broad.mit.edu	37	1	7902801	7902801	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:7902801G>C	ENST00000361923.2	+	21	3767	c.3592G>C	c.(3592-3594)Gaa>Caa	p.E1198Q	PER3_ENST00000377532.3_Missense_Mutation_p.E1207Q	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1198	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTCTGGTAGAAGACAGCTG	0.453																																						uc001aoo.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3592-3594)GAA>CAA		period 3							188.0	161.0	170.0					1																	7902801		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7902801G>C	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3592G>C	1.37:g.7902801G>C	ENSP00000355031:p.Glu1198Gln					PER3_uc001aop.2_Missense_Mutation_p.E1207Q|PER3_uc010nzw.1_Missense_Mutation_p.E887Q	p.E1198Q	NM_016831	NP_058515	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	21	3767	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1198			CRY binding domain (By similarity).		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.3592G>C	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877909	0.33162	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10288	2.89;2.89	4.15	4.15	0.48705	.	1.093820	0.07045	N	0.830911	T	0.18045	0.0433	L	0.27053	0.805	0.09310	N	1	D;D;D	0.61697	0.99;0.982;0.969	P;P;P	0.56612	0.676;0.802;0.638	T	0.32903	-0.9889	10	0.51188	T	0.08	.	11.8201	0.52235	0.0:0.0:1.0:0.0	.	247;1207;1198	B4DR65;P56645-2;P56645	.;.;PER3_HUMAN	Q	1207;1198;391	ENSP00000366755:E1207Q;ENSP00000355031:E1198Q	ENSP00000355031:E1198Q	E	+	1	0	PER3	7825388	0.005000	0.15991	0.008000	0.14137	0.008000	0.06430	1.261000	0.32980	2.148000	0.66965	0.655000	0.94253	GAA		0.453	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1		NM_016831		20	55	0	0	0	0.00278	0	20	55		
DFFA	1676	broad.mit.edu	37	1	10529339	10529339	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:10529339C>G	ENST00000377038.3	-	2	260	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	DFFA_ENST00000377036.2_Missense_Mutation_p.E65Q	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	65	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GTGCCATCCTCTGCCAGGACC	0.428																																						uc001arj.2		NaN																	0					0						c.(193-195)GAG>CAG		DNA fragmentation factor, 45kDa, alpha							136.0	119.0	125.0					1																	10529339		2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10529339C>G	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.193G>C	1.37:g.10529339C>G	ENSP00000366237:p.Glu65Gln					DFFA_uc001ark.2_Missense_Mutation_p.E65Q	p.E65Q	NM_004401	NP_004392	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	2	291	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	65			CIDE-N.		Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.193G>C	CCDS118.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967004	0.74131	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.49	5.49	0.81192	Caspase-activated nuclease CIDE-N (3);	0.153875	0.56097	D	0.000021	T	0.78953	0.4365	M	0.67397	2.05	0.58432	D	0.999992	D;D	0.89917	0.997;1.0	D;D	0.87578	0.913;0.998	T	0.79210	-0.1897	9	0.54805	T	0.06	-34.3712	19.3968	0.94610	0.0:1.0:0.0:0.0	.	65;65	O00273-2;O00273	.;DFFA_HUMAN	Q	65	.	ENSP00000366235:E65Q	E	-	1	0	DFFA	10451926	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.645000	0.61404	2.565000	0.86533	0.655000	0.94253	GAG		0.428	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1		NM_004401		26	61	0	0	0	0.007291	0	26	61		
EXOSC10	5394	broad.mit.edu	37	1	11132177	11132177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:11132177C>A	ENST00000376936.4	-	20	2258	c.2209G>T	c.(2209-2211)Gaa>Taa	p.E737*	EXOSC10_ENST00000304457.7_Nonsense_Mutation_p.E712*|EXOSC10_ENST00000544779.1_3'UTR|RP4-635E18.7_ENST00000452378.1_RNA	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	737					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TTGACAGCTTCTTTAGAGTCT	0.453																																					Colon(179;105 1987 14326 27364 29542)	uc001asa.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(2209-2211)GAA>TAA		exosome component 10 isoform 1							305.0	267.0	280.0					1																	11132177		2203	4300	6503	SO:0001587	stop_gained	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11132177C>A	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.2209G>T	1.37:g.11132177C>A	ENSP00000366135:p.Glu737*					EXOSC10_uc001asb.2_Nonsense_Mutation_p.E712*	p.E737*	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	20	2259	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	737					B1AKQ0|B1AKQ1|Q15158	Nonsense_Mutation	SNP	ENST00000376936.4	37	c.2209G>T	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	C	38	6.800109	0.97849	.	.	ENSG00000171824	ENST00000376936;ENST00000304457	.	.	.	5.42	5.42	0.78866	.	0.269948	0.41500	D	0.000879	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-14.6701	13.5171	0.61547	0.0:0.9225:0.0:0.0775	.	.	.	.	X	737;712	.	ENSP00000307307:E712X	E	-	1	0	EXOSC10	11054764	1.000000	0.71417	0.975000	0.42487	0.683000	0.39861	2.215000	0.42862	2.545000	0.85829	0.561000	0.74099	GAA		0.453	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1		NM_001001998		34	70	1	0	5.78141e-17	0.013114	6.17496e-17	34	70		
PLOD1	5351	broad.mit.edu	37	1	12020784	12020784	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:12020784G>A	ENST00000196061.4	+	10	1084	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	PLOD1_ENST00000376369.3_Missense_Mutation_p.E400K	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	353					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	GGTGGGCCCTGAGGTGCGGAT	0.627																																						uc001atm.2		NaN																	0				ovary(2)|breast(1)	3						c.(1057-1059)GAG>AAG		lysyl hydroxylase 1 precursor	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						101.0	90.0	94.0					1																	12020784		2203	4300	6503	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12020784G>A	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1057G>A	1.37:g.12020784G>A	ENSP00000196061:p.Glu353Lys					PLOD1_uc010obb.1_Missense_Mutation_p.E400K	p.E353K	NM_000302	NP_000293	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	10	1148	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	353					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.1057G>A	CCDS142.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890501	0.52014	.	.	ENSG00000083444	ENST00000376369;ENST00000196061	D;D	0.85411	-1.98;-1.98	5.61	5.61	0.85477	.	0.146965	0.64402	D	0.000014	D	0.83755	0.5323	M	0.61703	1.905	0.54753	D	0.999981	P;P	0.41420	0.749;0.682	B;B	0.38264	0.269;0.197	D	0.84142	0.0418	10	0.41790	T	0.15	.	17.1896	0.86875	0.0:0.0:1.0:0.0	.	400;353	B4DR87;Q02809	.;PLOD1_HUMAN	K	400;353	ENSP00000365548:E400K;ENSP00000196061:E353K	ENSP00000196061:E353K	E	+	1	0	PLOD1	11943371	1.000000	0.71417	0.953000	0.39169	0.429000	0.31625	7.098000	0.76974	2.659000	0.90383	0.650000	0.86243	GAG		0.627	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1		NM_000302		58	39	0	0	0	0.00361	0	58	39		
ATP13A2	23400	broad.mit.edu	37	1	17323611	17323611	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:17323611C>T	ENST00000326735.8	-	12	1132	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	ATP13A2_ENST00000452699.1_Missense_Mutation_p.E362K|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000341676.5_Missense_Mutation_p.E362K			Q9NQ11	AT132_HUMAN	ATPase type 13A2	367					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CGGTGTGTCTCTGCACAGTAG	0.652																																						uc001baa.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1099-1101)GAG>AAG		ATPase type 13A2 isoform 1							76.0	76.0	76.0					1																	17323611		2203	4300	6503	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17323611C>T	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1099G>A	1.37:g.17323611C>T	ENSP00000327214:p.Glu367Lys					ATP13A2_uc001bab.2_Missense_Mutation_p.E362K|ATP13A2_uc001bac.2_Missense_Mutation_p.E362K|ATP13A2_uc009vpa.1_Missense_Mutation_p.E80K|ATP13A2_uc001bad.1_Missense_Mutation_p.E80K	p.E367K	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	12	1289	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	367			Cytoplasmic (Potential).		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.1099G>A	CCDS175.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773816	0.49786	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000506174	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	5.57	4.65	0.58169	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.140952	0.64402	D	0.000005	D	0.82907	0.5139	N	0.17800	0.525	0.52099	D	0.999942	B;B;B;P;B	0.42620	0.243;0.036;0.425;0.785;0.078	B;B;B;B;B	0.44224	0.134;0.05;0.173;0.444;0.091	T	0.78635	-0.2127	10	0.14252	T	0.57	-28.3915	9.8382	0.40982	0.0:0.8537:0.0:0.1463	.	80;80;362;362;367	Q52PK6;Q6ZP48;Q5JXY1;Q6S9Z9;Q9NQ11	.;.;.;.;AT132_HUMAN	K	367;362;362;87	ENSP00000327214:E367K;ENSP00000341115:E362K;ENSP00000413307:E362K;ENSP00000424393:E87K	ENSP00000327214:E367K	E	-	1	0	ATP13A2	17196198	0.777000	0.28628	1.000000	0.80357	0.235000	0.25334	2.118000	0.41949	2.627000	0.88993	0.561000	0.74099	GAG		0.652	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1		NM_022089		130	68	0	0	0	0.00361	0	130	68		
UBR4	23352	broad.mit.edu	37	1	19497282	19497282	+	Missense_Mutation	SNP	G	G	C	rs555728639		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:19497282G>C	ENST00000375254.3	-	26	3644	c.3617C>G	c.(3616-3618)tCt>tGt	p.S1206C	UBR4_ENST00000375226.2_Missense_Mutation_p.S1206C|UBR4_ENST00000375267.2_Missense_Mutation_p.S1206C|UBR4_ENST00000375217.2_Missense_Mutation_p.S1206C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1206					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCACCTGCTAGAGCCAATAGC	0.428													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19109	0.0		0.0	False		,,,				2504	0.0					uc001bbi.2		NaN																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(3616-3618)TCT>TGT		retinoblastoma-associated factor 600							102.0	99.0	100.0					1																	19497282		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19497282G>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3617C>G	1.37:g.19497282G>C	ENSP00000364403:p.Ser1206Cys					UBR4_uc001bbm.1_Missense_Mutation_p.S417C	p.S1206C	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	26	3621	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1206					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.3617C>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638851	0.87760	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	N	0.12746	0.255	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	T	0.74144	-0.3760	10	0.52906	T	0.07	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	1206	Q5T4S7	UBR4_HUMAN	C	1206;1206;1206;1206;422	ENSP00000364403:S1206C;ENSP00000364416:S1206C;ENSP00000364365:S1206C;ENSP00000364374:S1206C	ENSP00000364365:S1206C	S	-	2	0	UBR4	19369869	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	9.447000	0.97595	2.824000	0.97209	0.655000	0.94253	TCT		0.428	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		71	37	0	0	0	0.00361	0	71	37		
MYOM3	127294	broad.mit.edu	37	1	24387794	24387794	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:24387794C>T	ENST00000374434.3	-	34	4102	c.3940G>A	c.(3940-3942)Gag>Aag	p.E1314K	MYOM3_ENST00000338909.5_Missense_Mutation_p.E207K|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.E1317K	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1314						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ATTGCATCCTCAAAAGCTATA	0.502																																						uc001bin.3		NaN																	0				skin(2)|ovary(1)	3						c.(3940-3942)GAG>AAG		myomesin family, member 3							43.0	45.0	44.0					1																	24387794		1924	4117	6041	SO:0001583	missense	127294							g.chr1:24387794C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3940G>A	1.37:g.24387794C>T	ENSP00000363557:p.Glu1314Lys					MYOM3_uc001bil.3_Missense_Mutation_p.E207K|MYOM3_uc001bim.3_Missense_Mutation_p.E971K	p.E1314K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	34	4103	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1314					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3940G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780641	0.49891	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.58210	0.35;0.6;0.6	4.86	4.86	0.63082	.	0.407941	0.26010	N	0.026884	T	0.42471	0.1204	L	0.46157	1.445	0.80722	D	1	B;B	0.32245	0.361;0.004	B;B	0.21708	0.036;0.012	T	0.39542	-0.9609	10	0.08381	T	0.77	.	17.9685	0.89106	0.0:1.0:0.0:0.0	.	1314;207	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	K	207;1314;1317;209	ENSP00000342689:E207K;ENSP00000363557:E1314K;ENSP00000332670:E1317K	ENSP00000332670:E1317K	E	-	1	0	MYOM3	24260381	1.000000	0.71417	0.988000	0.46212	0.023000	0.10783	7.638000	0.83328	2.224000	0.72417	0.591000	0.81541	GAG		0.502	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2		NM_152372		10	27	0	0	0	0.001368	0	10	27		
RHD	6007	broad.mit.edu	37	1	25599110	25599110	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:25599110C>T	ENST00000328664.4	+	1	227	c.72C>T	c.(70-72)ctC>ctT	p.L24L	RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Silent_p.L24L|RHD_ENST00000417538.2_Silent_p.L24L|RHD_ENST00000342055.5_Silent_p.L24L|RHD_ENST00000357542.4_Silent_p.L24L|RHD_ENST00000423810.2_Silent_p.L24L|RHD_ENST00000568195.1_Silent_p.L24L	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	24						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAGCAGCTCTCATTCTCCTCT	0.532																																						uc001bjz.2		NaN																	0				breast(1)	1						c.(70-72)CTC>CTT		Rh blood group D antigen isoform 1							91.0	74.0	79.0					1																	25599110		2201	4298	6499	SO:0001819	synonymous_variant	6007					integral to plasma membrane		g.chr1:25599110C>T	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.72C>T	1.37:g.25599110C>T						RHD_uc010oep.1_Silent_p.L24L|RHD_uc001bkc.2_Silent_p.L24L|RHD_uc009vrm.2_5'UTR|RHD_uc001bka.2_Silent_p.L24L|RHD_uc001bkb.2_Silent_p.L24L|RHD_uc009vrn.2_Silent_p.L24L|RHD_uc009vro.2_Silent_p.L24L|RHD_uc009vrp.2_Silent_p.L24L	p.L24L	NM_016124	NP_057208	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	1	130	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	24			Helical; (Potential).		Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Silent	SNP	ENST00000328664.4	37	c.72C>T	CCDS262.1																																																																																				0.532	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5		NM_016124		9	45	0	0	0	0.010729	0	9	45		
SF3A3	10946	broad.mit.edu	37	1	38450421	38450421	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:38450421C>T	ENST00000373019.4	-	5	1289	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Missense_Mutation_p.E59K	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	112					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCAGGAGTTCCTCAAATTCC	0.433																																						uc001cci.2		NaN																	0					0						c.(334-336)GAA>AAA		splicing factor 3a, subunit 3							109.0	106.0	107.0					1																	38450421		2203	4300	6503	SO:0001583	missense	10946				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	g.chr1:38450421C>T	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.334G>A	1.37:g.38450421C>T	ENSP00000362110:p.Glu112Lys					SF3A3_uc010oik.1_Missense_Mutation_p.E59K	p.E112K	NM_006802	NP_006793	Q12874	SF3A3_HUMAN			5	458	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	112					D3DPT5|Q15460|Q5VT87	Missense_Mutation	SNP	ENST00000373019.4	37	c.334G>A	CCDS428.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881297	0.72294	.	.	ENSG00000183431	ENST00000373019;ENST00000448721	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	L	0.36672	1.1	0.80722	D	1	B;D	0.63880	0.007;0.993	B;D	0.70935	0.013;0.971	T	0.57808	-0.7747	9	0.15499	T	0.54	-23.2709	20.1576	0.98120	0.0:1.0:0.0:0.0	.	59;112	E7EUT8;Q12874	.;SF3A3_HUMAN	K	112;59	.	ENSP00000362110:E112K	E	-	1	0	SF3A3	38223008	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.598000	0.82745	2.773000	0.95371	0.650000	0.86243	GAA		0.433	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1		NM_006802		35	86	0	0	0	0.013114	0	35	86		
MACF1	23499	broad.mit.edu	37	1	39782127	39782127	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:39782127G>C	ENST00000372915.3	+	27	3616	c.3529G>C	c.(3529-3531)Gag>Cag	p.E1177Q	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.E1209Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E1177Q|MACF1_ENST00000564288.1_Missense_Mutation_p.E1172Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E1177Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E1177Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E1177Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1177					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAAAGGTTATGAGATTAAGCT	0.433																																						uc010ois.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(3529-3531)GAG>CAG		microfilament and actin filament cross-linker							199.0	192.0	194.0					1																	39782127		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39782127G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3529G>C	1.37:g.39782127G>C	ENSP00000362006:p.Glu1177Gln					MACF1_uc001cda.1_Missense_Mutation_p.E1085Q|MACF1_uc001cdc.1_Missense_Mutation_p.E264Q|MACF1_uc009vvq.1_Missense_Mutation_p.E234Q|MACF1_uc001cdb.1_Missense_Mutation_p.E264Q	p.E1177Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		29	3734	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1177					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3529G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.185739|5.185739	0.94885|0.94885	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262|ENST00000372925	D;D;D;D;D;D;D|.	0.81908|.	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|.	.|.	.|.	.|.	T|.	0.81861|.	0.4912|.	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	B;D;D|.	0.69078|.	0.007;0.98;0.997|.	B;P;D|.	0.79108|.	0.024;0.736;0.992|.	T|.	0.79596|.	-0.1738|.	9|.	0.87932|.	D|.	0|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1177;1177;1142|.	F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	.;.;.|.	Q|S	1177;1177;1177;1177;1177;1135;1326|310	ENSP00000439537:E1177Q;ENSP00000362006:E1177Q;ENSP00000354573:E1177Q;ENSP00000313438:E1177Q;ENSP00000444364:E1177Q;ENSP00000435070:E1135Q;ENSP00000437059:E1326Q|.	ENSP00000313438:E1177Q|.	E|X	+|+	1|2	0|2	MACF1|MACF1	39554714|39554714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.113000|9.113000	0.94321|0.94321	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		82	50	0	0	0	0.00361	0	82	50		
EBNA1BP2	10969	broad.mit.edu	37	1	43637293	43637293	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:43637293G>A	ENST00000236051.2	-	3	321	c.180C>T	c.(178-180)ttC>ttT	p.F60F	EBNA1BP2_ENST00000431635.2_Silent_p.F115F|WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank|EBNA1BP2_ENST00000472982.1_5'UTR	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	60					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATCCCGCTTGAATTCTGCCA	0.522																																						uc001cin.2		NaN																	0					0						c.(178-180)TTC>TTT		EBNA1 binding protein 2 isoform 2							169.0	166.0	167.0					1																	43637293		2203	4300	6503	SO:0001819	synonymous_variant	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43637293G>A	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.180C>T	1.37:g.43637293G>A						EBNA1BP2_uc001cio.2_Silent_p.F115F|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_5'UTR|EBNA1BP2_uc010ojx.1_Silent_p.F115F|EBNA1BP2_uc010ojy.1_RNA	p.F60F	NM_006824	NP_006815	Q99848	EBP2_HUMAN			3	377	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	60					Q96A66	Silent	SNP	ENST00000236051.2	37	c.180C>T	CCDS478.1																																																																																				0.522	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1				146	109	0	0	0	0.00361	0	146	109		
BEND5	79656	broad.mit.edu	37	1	49208411	49208411	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:49208411C>T	ENST00000371833.3	-	4	864	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371838.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	260						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						TCGAGACATTCTGACTTTACT	0.443																																						uc001crx.3		NaN																	0				skin(1)	1						c.(778-780)GAA>AAA		BEN domain containing 5							81.0	79.0	79.0					1																	49208411		2203	4300	6503	SO:0001583	missense	79656							g.chr1:49208411C>T	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.778G>A	1.37:g.49208411C>T	ENSP00000360899:p.Glu260Lys					AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Missense_Mutation_p.E91K	p.E260K	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN			4	822	-			260					D3DQ27|Q96A62|Q9HAI3	Missense_Mutation	SNP	ENST00000371833.3	37	c.778G>A	CCDS552.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019910	0.75275	.	.	ENSG00000162373	ENST00000371833	.	.	.	5.45	5.45	0.79879	.	0.149890	0.64402	D	0.000017	T	0.62332	0.2419	N	0.24115	0.695	0.58432	D	0.999995	P	0.52842	0.956	P	0.62184	0.899	T	0.57934	-0.7725	8	.	.	.	-2.8972	18.4445	0.90678	0.0:1.0:0.0:0.0	.	260	Q7L4P6	BEND5_HUMAN	K	260	.	.	E	-	1	0	BEND5	48980998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.664000	0.68045	2.838000	0.97847	0.591000	0.81541	GAA		0.443	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1		NM_024603		3	76	0	0	0	0.000602	0	3	76		
EPS15	2060	broad.mit.edu	37	1	51913720	51913720	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:51913720T>A	ENST00000371733.3	-	9	745	c.649A>T	c.(649-651)Acg>Tcg	p.T217S	EPS15_ENST00000371730.2_Missense_Mutation_p.T217S	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	217	Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ATACTGACCGTTTTTCTCTTA	0.463			T	MLL	ALL																																	uc001csq.1		NaN		Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		1	Whole gene deletion(1)		central_nervous_system(1)	lung(1)|kidney(1)	2						c.(649-651)ACG>TCG		epidermal growth factor receptor pathway							169.0	161.0	163.0					1																	51913720		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51913720T>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.649A>T	1.37:g.51913720T>A	ENSP00000360798:p.Thr217Ser					EPS15_uc009vyz.1_Missense_Mutation_p.T217S	p.T217S	NM_001981	NP_001972	P42566	EPS15_HUMAN			9	741	-			217					B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.649A>T	CCDS557.1	.	.	.	.	.	.	.	.	.	.	T	8.263	0.811649	0.16537	.	.	ENSG00000085832	ENST00000371730;ENST00000371733	T;T	0.21932	2.01;1.98	5.97	4.84	0.62591	EPS15 homology (EH) (1);EF-hand-like domain (1);	0.000000	0.33235	N	0.005129	T	0.08088	0.0202	N	0.04275	-0.24	0.80722	D	1	B;B	0.33883	0.27;0.43	B;B	0.31812	0.136;0.1	T	0.24657	-1.0154	10	0.26408	T	0.33	.	5.2517	0.15524	0.0:0.2004:0.1586:0.6409	.	217;217	B1AUU8;P42566	.;EPS15_HUMAN	S	217	ENSP00000360795:T217S;ENSP00000360798:T217S	ENSP00000360795:T217S	T	-	1	0	EPS15	51686308	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.370000	0.52372	2.288000	0.76882	0.533000	0.62120	ACG		0.463	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1		NM_001981		19	59	0	0	0	0.002299	0	19	59		
GADD45A	1647	broad.mit.edu	37	1	68152235	68152235	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:68152235G>A	ENST00000370986.4	+	3	783	c.349G>A	c.(349-351)Gag>Aag	p.E117K	GADD45A_ENST00000460575.1_3'UTR|GADD45A_ENST00000370985.3_Missense_Mutation_p.E83K	NM_001924.3	NP_001915.1	P24522	GA45A_HUMAN	growth arrest and DNA-damage-inducible, alpha	117	Intrinsically disordered.				activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|signal transduction in response to DNA damage (GO:0042770)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter binding (GO:0001047)			lung(2)|ovary(2)	4						CGAGGGCGCCGAGCAGCCCCC	0.706																																						uc001ddz.1		NaN																	0				ovary(1)	1						c.(349-351)GAG>AAG		growth arrest and DNA-damage-inducible, alpha							14.0	18.0	17.0					1																	68152235		2179	4271	6450	SO:0001583	missense	1647				apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding	g.chr1:68152235G>A	M60974	CCDS640.1, CCDS55605.1, CCDS72806.1	1p31.2	2010-08-27			ENSG00000116717	ENSG00000116717			4095	protein-coding gene	gene with protein product		126335		DDIT1		1990262, 8226988	Standard	NM_001924		Approved	GADD45	uc001ddz.2	P24522	OTTHUMG00000009374	ENST00000370986.4:c.349G>A	1.37:g.68152235G>A	ENSP00000360025:p.Glu117Lys					GADD45A_uc009wbb.1_Missense_Mutation_p.E83K|GADD45A_uc009wbc.1_Intron|GADD45A_uc009wbd.1_Intron	p.E117K	NM_001924	NP_001915	P24522	GA45A_HUMAN			3	644	+			117					Q5TCA7|Q5TCA8	Missense_Mutation	SNP	ENST00000370986.4	37	c.349G>A	CCDS640.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366534	0.24771	.	.	ENSG00000116717	ENST00000370986;ENST00000370985	T;T	0.58358	0.34;0.34	5.49	3.55	0.40652	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.450290	0.25552	N	0.029881	T	0.24314	0.0589	L	0.39898	1.24	0.38535	D	0.949073	B;B	0.22746	0.074;0.027	B;B	0.20955	0.03;0.032	T	0.05037	-1.0910	10	0.37606	T	0.19	-20.6855	9.8586	0.41101	0.0775:0.1408:0.7817:0.0	.	83;117	Q5TCA7;P24522	.;GA45A_HUMAN	K	117;83	ENSP00000360025:E117K;ENSP00000360024:E83K	ENSP00000360024:E83K	E	+	1	0	GADD45A	67924823	1.000000	0.71417	0.878000	0.34440	0.860000	0.49131	4.428000	0.59894	0.628000	0.30357	0.467000	0.42956	GAG		0.706	GADD45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025988.2		NM_001924		19	9	0	0	0	0.00632	0	19	9		
CTH	1491	broad.mit.edu	37	1	70897772	70897772	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:70897772G>T	ENST00000370938.3	+	8	875	c.731G>T	c.(730-732)gGa>gTa	p.G244V	CTH_ENST00000411986.2_Missense_Mutation_p.G212V|CTH_ENST00000346806.2_Missense_Mutation_p.G200V	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GCAGCTCTTGGAGCAGTTCCA	0.438																																						uc001dfd.2		NaN																	0				lung(1)	1						c.(730-732)GGA>GTA		cystathionase isoform 1	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						123.0	121.0	122.0					1																	70897772		2203	4300	6503	SO:0001583	missense	1491				cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	g.chr1:70897772G>T	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.731G>T	1.37:g.70897772G>T	ENSP00000359976:p.Gly244Val					CTH_uc009wbl.1_RNA|CTH_uc001dfe.2_Missense_Mutation_p.G200V|CTH_uc010oqq.1_Missense_Mutation_p.G212V	p.G244V	NM_001902	NP_001893	P32929	CGL_HUMAN			8	875	+			244					O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	c.731G>T	CCDS650.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481540	0.63849	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.96716	-4.1;-4.1;-4.1	5.47	5.47	0.80525	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.098579	0.64402	D	0.000001	D	0.99254	0.9740	H	0.99619	4.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.98664	1.0685	10	0.87932	D	0	-12.7342	19.3776	0.94518	0.0:0.0:1.0:0.0	.	212;200;244	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	V	212;244;200	ENSP00000413407:G212V;ENSP00000359976:G244V;ENSP00000311554:G200V	ENSP00000311554:G200V	G	+	2	0	CTH	70670360	1.000000	0.71417	0.690000	0.30148	0.217000	0.24651	9.401000	0.97294	2.761000	0.94854	0.650000	0.86243	GGA		0.438	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1		NM_001902		14	35	1	0	1.02788e-11	0.00499	1.07691e-11	14	35		
ERICH3	127254	broad.mit.edu	37	1	75037069	75037069	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:75037069G>C	ENST00000326665.5	-	14	4543	c.4325C>G	c.(4324-4326)tCa>tGa	p.S1442*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1442	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTAGCCCTGAGGTCTTCCG	0.612																																						uc001dgg.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4324-4326)TCA>TGA		hypothetical protein LOC127254							99.0	99.0	99.0					1																	75037069		2203	4300	6503	SO:0001587	stop_gained	127254							g.chr1:75037069G>C																												ENST00000326665.5:c.4325C>G	1.37:g.75037069G>C	ENSP00000322609:p.Ser1442*						p.S1442*	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4544	-			1442			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	ENST00000326665.5	37	c.4325C>G	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	42	9.633529	0.99224	.	.	ENSG00000178965	ENST00000326665	.	.	.	4.02	0.588	0.17445	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	1.9939	0.03452	0.1069:0.1695:0.3781:0.3456	.	.	.	.	X	1442	.	ENSP00000322609:S1442X	S	-	2	0	C1orf173	74809657	0.000000	0.05858	0.000000	0.03702	0.289000	0.27227	-0.198000	0.09505	0.252000	0.21531	0.561000	0.74099	TCA		0.612	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1				58	159	0	0	0	0.00361	0	58	159		
MAGI3	260425	broad.mit.edu	37	1	114128143	114128143	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:114128143G>A	ENST00000307546.9	+	4	763	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	MAGI3_ENST00000369617.4_Missense_Mutation_p.E230K|MAGI3_ENST00000369615.1_Missense_Mutation_p.E230K|MAGI3_ENST00000369611.4_Missense_Mutation_p.E230K	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	230	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCAAGATGGAAAGAATGGA	0.418																																						uc001edk.2		NaN																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(688-690)GAA>AAA		membrane-associated guanylate kinase-related  3							95.0	91.0	92.0					1																	114128143		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114128143G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.688G>A	1.37:g.114128143G>A	ENSP00000304604:p.Glu230Lys					MAGI3_uc001edh.3_Missense_Mutation_p.E230K|MAGI3_uc001edi.3_Missense_Mutation_p.E230K|MAGI3_uc010owm.1_Missense_Mutation_p.E230K	p.E230K	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	869	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	230			Guanylate kinase-like.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.688G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475287	0.63737	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.18174	2.42;2.23;2.43;2.43	5.62	4.65	0.58169	.	0.149639	0.64402	D	0.000012	T	0.09468	0.0233	N	0.25485	0.75	0.42286	D	0.992116	B;B;B	0.29136	0.199;0.026;0.234	B;B;B	0.38378	0.117;0.031;0.272	T	0.06770	-1.0808	10	0.87932	D	0	-28.4458	13.1923	0.59717	0.0:0.3699:0.6301:0.0	.	230;230;230	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	K	230	ENSP00000358630:E230K;ENSP00000304604:E230K;ENSP00000358628:E230K;ENSP00000358624:E230K	ENSP00000304604:E230K	E	+	1	0	MAGI3	113929666	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.410000	0.66381	2.814000	0.96858	0.585000	0.79938	GAA		0.418	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1		NM_152900		17	34	0	0	0	0.006122	0	17	34		
DENND2C	163259	broad.mit.edu	37	1	115147614	115147614	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:115147614C>T	ENST00000393274.1	-	11	2221	c.1596G>A	c.(1594-1596)gaG>gaA	p.E532E	DENND2C_ENST00000393276.3_Silent_p.E475E|DENND2C_ENST00000393277.1_Silent_p.E532E|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	532	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTAAGTCTCTCTTCCATGT	0.343																																						uc001efd.1		NaN																	0				skin(3)	3						c.(1594-1596)GAG>GAA		DENN/MADD domain containing 2C							113.0	105.0	108.0					1																	115147614		2202	4300	6502	SO:0001819	synonymous_variant	163259							g.chr1:115147614C>T		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1596G>A	1.37:g.115147614C>T						DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Silent_p.E475E	p.E532E	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2298	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	532			UDENN.		B1AL26|Q5TCX6|Q6P3R3	Silent	SNP	ENST00000393274.1	37	c.1596G>A	CCDS58018.1																																																																																				0.343	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1		NM_198459		12	12	0	0	0	0.001368	0	12	12		
DENND2C	163259	broad.mit.edu	37	1	115147649	115147649	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:115147649C>T	ENST00000393274.1	-	11	2186	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	DENND2C_ENST00000393276.3_Missense_Mutation_p.D464N|DENND2C_ENST00000393277.1_Missense_Mutation_p.D521N|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	521	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGCCATGATCATCCTGAAAA	0.363																																						uc001efd.1		NaN																	0				skin(3)	3						c.(1561-1563)GAT>AAT		DENN/MADD domain containing 2C							86.0	78.0	81.0					1																	115147649		2202	4300	6502	SO:0001583	missense	163259							g.chr1:115147649C>T		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1561G>A	1.37:g.115147649C>T	ENSP00000376955:p.Asp521Asn					DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.D464N	p.D521N	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2263	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	521			UDENN.		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.1561G>A	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305334	0.60305	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.42513	0.97;0.97;0.97	5.86	5.86	0.93980	uDENN (3);	0.064020	0.64402	D	0.000013	T	0.36496	0.0969	L	0.28274	0.84	0.49299	D	0.999778	P;B	0.46512	0.879;0.01	P;B	0.53760	0.734;0.061	T	0.02751	-1.1115	10	0.29301	T	0.29	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	521;464	Q68D51;Q68D51-3	DEN2C_HUMAN;.	N	464;521;521;521	ENSP00000376957:D464N;ENSP00000376955:D521N;ENSP00000376958:D521N	ENSP00000358553:D521N	D	-	1	0	DENND2C	114949172	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	4.779000	0.62375	2.778000	0.95560	0.655000	0.94253	GAT		0.363	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1		NM_198459		6	8	0	0	0	0.001168	0	6	8		
SPAG17	200162	broad.mit.edu	37	1	118624183	118624183	+	Silent	SNP	T	T	C	rs367656575		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:118624183T>C	ENST00000336338.5	-	14	1910	c.1845A>G	c.(1843-1845)aaA>aaG	p.K615K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	615						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCAGTTTCCCTTTTTCATCAA	0.448																																						uc001ehk.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(1843-1845)AAA>AAG		sperm associated antigen 17							151.0	141.0	145.0					1																	118624183		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118624183T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1845A>G	1.37:g.118624183T>C							p.K615K	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	14	1913	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	615					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.1845A>G	CCDS899.1																																																																																				0.448	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1		NM_206996		3	87	0	0	0	0.009096	0	3	87		
SPAG17	200162	broad.mit.edu	37	1	118640379	118640379	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:118640379C>T	ENST00000336338.5	-	7	990	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	309						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGATTTGTTTCAGGTTTCTCA	0.373																																						uc001ehk.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(925-927)GAA>AAA		sperm associated antigen 17							187.0	168.0	175.0					1																	118640379		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118640379C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.925G>A	1.37:g.118640379C>T	ENSP00000337804:p.Glu309Lys						p.E309K	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	7	993	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	309					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.925G>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567128	0.65651	.	.	ENSG00000155761	ENST00000336338	T	0.52526	0.66	5.3	5.3	0.74995	.	0.394893	0.29205	N	0.012824	T	0.60196	0.2250	M	0.72479	2.2	0.38856	D	0.956388	D	0.76494	0.999	D	0.68765	0.96	T	0.56547	-0.7961	10	0.30078	T	0.28	.	18.9657	0.92695	0.0:1.0:0.0:0.0	.	309	Q6Q759	SPG17_HUMAN	K	309	ENSP00000337804:E309K	ENSP00000337804:E309K	E	-	1	0	SPAG17	118441902	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.459000	0.60102	2.454000	0.82982	0.650000	0.86243	GAA		0.373	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1		NM_206996		13	31	0	0	0	0.001855	0	13	31		
NBPF9	400818	broad.mit.edu	37	1	144828683	144828683	+	Missense_Mutation	SNP	C	C	G	rs369617939		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:144828683C>G	ENST00000281815.8	+	13	1269	c.523C>G	c.(523-525)Cag>Gag	p.Q175E	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.Q577E			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	835	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.Q577E(1)		NS(2)|prostate(1)	3						ATTTGAGGAACAGCACATCAG	0.438																																						uc009wig.1		NaN																	1	Substitution - Missense(1)		kidney(1)		0						c.(2728-2730)CAG>GAG		hypothetical protein LOC400818							42.0	35.0	37.0					1																	144828683		692	1578	2270	SO:0001583	missense	400818					cytoplasm		g.chr1:144828683C>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.523C>G	1.37:g.144828683C>G	ENSP00000281815:p.Gln175Glu					NBPF9_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF9_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF9_uc010oxr.1_Missense_Mutation_p.Q937E|NBPF9_uc010oxt.1_Missense_Mutation_p.Q725E|NBPF9_uc001ekg.1_Missense_Mutation_p.Q237E|NBPF9_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Missense_Mutation_p.Q570E|uc001elr.3_5'Flank	p.Q910E	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			23	2804	+			910			NBPF 7.			Missense_Mutation	SNP	ENST00000281815.8	37	c.2728C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	1.692|1.692	-0.503751|-0.503751	0.04261|0.04261	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000281815	.|T;T	.|0.08282	.|3.11;3.11	0.618|0.618	-1.08|-1.08	0.09936|0.09936	.|.	.|.	.|.	.|.	.|.	T|T	0.03564|0.03564	0.0102|0.0102	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|P;B;B;B	.|0.44344	.|0.833;0.018;0.009;0.108	.|P;B;B;B	.|0.48901	.|0.594;0.06;0.042;0.055	T|T	0.34625|0.34625	-0.9821|-0.9821	3|7	.|0.38643	.|T	.|0.18	.|.	.|.	.|.	.|.	.|.	.|641;808;583;650	.|Q5VTG8;B4DG53;Q8IX72;Q5TB04	.|.;.;.;.	K|E	650|577;175	.|ENSP00000342975:Q577E;ENSP00000281815:Q175E	.|ENSP00000281815:Q175E	N|Q	+|+	3|1	2|0	NBPF9|NBPF9	143540040|143540040	0.003000|0.003000	0.15002|0.15002	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	0.038000|0.038000	0.13862|0.13862	-0.343000|-0.343000	0.08351|0.08351	0.194000|0.194000	0.17425|0.17425	AAC|CAG		0.438	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001037675		7	235	0	0	0	0.003954	0	7	235		
NBPF9	400818	broad.mit.edu	37	1	144828688	144828688	+	Silent	SNP	C	C	T	rs373192737		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:144828688C>T	ENST00000281815.8	+	13	1274	c.528C>T	c.(526-528)caC>caT	p.H176H	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000338347.4_Silent_p.H578H			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	836	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.H578H(1)		NS(2)|prostate(1)	3						AGGAACAGCACATCAGCTTCG	0.433																																						uc009wig.1		NaN																	1	Substitution - coding silent(1)		kidney(1)		0						c.(2731-2733)CAC>CAT		hypothetical protein LOC400818							41.0	34.0	37.0					1																	144828688		692	1578	2270	SO:0001819	synonymous_variant	400818					cytoplasm		g.chr1:144828688C>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.528C>T	1.37:g.144828688C>T						NBPF9_uc010oxn.1_Silent_p.H809H|NBPF9_uc010oxo.1_Silent_p.H836H|NBPF9_uc010oxr.1_Silent_p.H938H|NBPF9_uc010oxt.1_Silent_p.H726H|NBPF9_uc001ekg.1_Silent_p.H238H|NBPF9_uc001ekk.1_Silent_p.H482H|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Silent_p.H238H|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Silent_p.H571H|uc001elr.3_5'Flank	p.H911H	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			23	2809	+			911			NBPF 7.			Silent	SNP	ENST00000281815.8	37	c.2733C>T		.	.	.	.	.	.	.	.	.	.	.	0.269	-0.993995	0.02145	.	.	ENSG00000168614	ENST00000375552	.	.	.	0.618	-1.24	0.09435	.	.	.	.	.	T	0.06096	0.0158	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.37103	-0.9720	3	.	.	.	.	.	.	.	.	.	.	.	I	652	.	.	T	+	2	0	NBPF9	143540045	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.901000	0.04093	-1.619000	0.01566	-1.050000	0.02344	ACA		0.433	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001037675		8	228	0	0	0	0.005443	0	8	228		
PDE4DIP	9659	broad.mit.edu	37	1	144857625	144857625	+	Silent	SNP	G	G	A	rs373244975		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:144857625G>A	ENST00000369354.3	-	39	6618	c.6429C>T	c.(6427-6429)atC>atT	p.I2143I	PDE4DIP_ENST00000369356.4_Silent_p.I2143I|PDE4DIP_ENST00000530740.1_Silent_p.I2228I|PDE4DIP_ENST00000369359.4_Silent_p.I2279I|PDE4DIP_ENST00000313382.9_Silent_p.I2037I|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2143					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGCTCTGTTGATTATGGGCG	0.468			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(6427-6429)ATC>ATT		phosphodiesterase 4D interacting protein isoform							264.0	292.0	282.0					1																	144857625		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144857625G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6429C>T	1.37:g.144857625G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.I2037I|PDE4DIP_uc001elv.3_Silent_p.I1150I	p.I2143I	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	39	6720	-			2143					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.6429C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	11.54	1.667780	0.29604	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.57	2.7	0.31948	.	.	.	.	.	T	0.18045	0.0433	.	.	.	0.19945	N	0.999949	.	.	.	.	.	.	T	0.19614	-1.0300	4	.	.	.	.	9.0447	0.36338	0.1837:0.0:0.8163:0.0	.	.	.	.	L	220	.	.	S	-	2	0	PDE4DIP	143568982	0.075000	0.21258	0.003000	0.11579	0.006000	0.05464	0.971000	0.29396	0.491000	0.27793	0.555000	0.69702	TCA		0.468	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		35	289	0	0	0	0.013114	0	35	289		
PDE4DIP	9659	broad.mit.edu	37	1	144871718	144871718	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:144871718C>A	ENST00000369354.3	-	32	5433	c.5244G>T	c.(5242-5244)atG>atT	p.M1748I	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.M1748I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.M1833I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.M1884I|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1748					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTCTGCAGCATCTGTAGCT	0.582			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(5242-5244)ATG>ATT		phosphodiesterase 4D interacting protein isoform							106.0	105.0	105.0					1																	144871718		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144871718C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5244G>T	1.37:g.144871718C>A	ENSP00000358360:p.Met1748Ile					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.M755I	p.M1748I	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	32	5535	-			1748			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.5244G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739859	0.69304	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01572	4.76;4.76;4.76;4.77	5.97	5.97	0.96955	.	.	.	.	.	T	0.02649	0.0080	L	0.48362	1.52	0.80722	D	1	D	0.54207	0.965	P	0.58172	0.834	T	0.56438	-0.7979	9	0.48119	T	0.1	.	11.222	0.48860	0.0:0.9174:0.0:0.0826	.	1748	Q5VU43	MYOME_HUMAN	I	1748;1748;1833;1884	ENSP00000358360:M1748I;ENSP00000358363:M1748I;ENSP00000435654:M1833I;ENSP00000358366:M1884I	ENSP00000358360:M1748I	M	-	3	0	PDE4DIP	143583075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.993000	0.63895	2.834000	0.97654	0.650000	0.86243	ATG		0.582	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		10	184	1	0	0.00229938	0.002299	0.00233481	10	184		
PDE4DIP	9659	broad.mit.edu	37	1	144882662	144882662	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:144882662G>C	ENST00000369354.3	-	24	3546	c.3357C>G	c.(3355-3357)ctC>ctG	p.L1119L	PDE4DIP_ENST00000369356.4_Silent_p.L1119L|PDE4DIP_ENST00000530740.1_Silent_p.L1256L|PDE4DIP_ENST00000369359.4_Silent_p.L1256L|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1119					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTGTTCTTTGAGGAGGTTGA	0.453			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3355-3357)CTC>CTG		phosphodiesterase 4D interacting protein isoform							266.0	255.0	259.0					1																	144882662		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144882662G>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3357C>G	1.37:g.144882662G>C						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Silent_p.L126L	p.L1119L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	24	3648	-			1119			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.3357C>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	2.377	-0.343048	0.05243	.	.	ENSG00000178104	ENST00000530592	.	.	.	5.84	4.9	0.64082	.	.	.	.	.	T	0.50769	0.1635	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48725	-0.9010	4	.	.	.	.	10.0049	0.41951	0.0:0.1476:0.6998:0.1526	.	.	.	.	E	14	.	.	Q	-	1	0	PDE4DIP	143594019	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	1.399000	0.34566	2.778000	0.95560	0.655000	0.94253	CAA		0.453	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		24	186	0	0	0	0.005443	0	24	186		
GABPB2	126626	broad.mit.edu	37	1	151065682	151065682	+	Silent	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:151065682G>T	ENST00000368918.3	+	4	622	c.291G>T	c.(289-291)gtG>gtT	p.V97V	GABPB2_ENST00000368916.1_Silent_p.V97V|GABPB2_ENST00000368917.1_Silent_p.V97V	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	97					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GTGCAGATGTGAATGCCAAGG	0.443																																						uc001ewr.2		NaN																	0					0						c.(289-291)GTG>GTT		GA repeat binding protein, beta 2							128.0	124.0	125.0					1																	151065682		2203	4300	6503	SO:0001819	synonymous_variant	126626				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding	g.chr1:151065682G>T		CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"""Ankyrin repeat domain containing"""	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.291G>T	1.37:g.151065682G>T						GABPB2_uc010pcp.1_Silent_p.V113V|GABPB2_uc001ews.2_Silent_p.V57V|GABPB2_uc001ewt.2_5'UTR	p.V97V	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN		all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)	4	622	+			97			ANK 3.		B1AVJ8|D3DV14|Q8NAR5	Silent	SNP	ENST00000368918.3	37	c.291G>T	CCDS983.1																																																																																				0.443	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033700.2		NM_144618		90	168	1	0	2.51308e-46	0.00361	2.75103e-46	90	168		
ZNF687	57592	broad.mit.edu	37	1	151258795	151258795	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:151258795G>C	ENST00000368879.2	+	2	126	c.28G>C	c.(28-30)Gat>Cat	p.D10H		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCTGATTTTGATGACCTCCT	0.517																																						uc001exq.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(28-30)GAT>CAT		zinc finger protein 687							100.0	102.0	101.0					1																	151258795		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151258795G>C		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.28G>C	1.37:g.151258795G>C	ENSP00000357874:p.Asp10His					ZNF687_uc001exp.1_Missense_Mutation_p.D19H|ZNF687_uc009wmo.2_Missense_Mutation_p.D10H|ZNF687_uc009wmp.2_Missense_Mutation_p.D10H	p.D10H	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	126	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		10					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.28G>C		.	.	.	.	.	.	.	.	.	.	G	18.82	3.704945	0.68615	.	.	ENSG00000143373	ENST00000443959;ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.07800	3.16;3.16;3.4	4.59	4.59	0.56863	.	0.000000	0.36444	N	0.002591	T	0.22704	0.0548	M	0.79123	2.44	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.997;1.0	T	0.01697	-1.1293	10	0.87932	D	0	.	16.3239	0.82965	0.0:0.0:1.0:0.0	.	10;10;10	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	H	19;10;10;10	ENSP00000336620:D10H;ENSP00000319829:D10H;ENSP00000357874:D10H	ENSP00000319829:D10H	D	+	1	0	ZNF687	149525419	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.263000	0.95617	2.389000	0.81357	0.313000	0.20887	GAT		0.517	ZNF687-201	KNOWN	basic	protein_coding	protein_coding			NM_020832		216	139	0	0	0	0.00361	0	216	139		
HRNR	388697	broad.mit.edu	37	1	152191810	152191810	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:152191810G>A	ENST00000368801.2	-	3	2370	c.2295C>T	c.(2293-2295)caC>caT	p.H765H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	765					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGTCGGCCGTGGCCCGAAG	0.592																																						uc001ezt.1		NaN																	0				skin(2)|ovary(1)	3						c.(2293-2295)CAC>CAT		hornerin							104.0	105.0	105.0					1																	152191810		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191810G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2295C>T	1.37:g.152191810G>A							p.H765H	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2371	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		765			8.		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.2295C>T	CCDS30859.1																																																																																				0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		32	167	0	0	0	0.003271	0	32	167		
HRNR	388697	broad.mit.edu	37	1	152193146	152193146	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:152193146G>C	ENST00000368801.2	-	3	1034	c.959C>G	c.(958-960)tCc>tGc	p.S320C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	320					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S320Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGTGGCTGGAGGAGTGCCC	0.607																																						uc001ezt.1		NaN																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(958-960)TCC>TGC		hornerin							81.0	91.0	87.0					1																	152193146		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193146G>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.959C>G	1.37:g.152193146G>C	ENSP00000357791:p.Ser320Cys						p.S320C	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1035	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		320			3.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.959C>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	6.488	0.458227	0.12342	.	.	ENSG00000197915	ENST00000368801	T	0.04015	3.73	3.83	1.88	0.25563	.	.	.	.	.	T	0.02083	0.0065	L	0.27053	0.805	0.09310	N	1	D	0.63046	0.992	P	0.51355	0.667	T	0.45731	-0.9241	9	0.49607	T	0.09	.	5.8069	0.18444	0.1073:0.0:0.7005:0.1922	.	320	Q86YZ3	HORN_HUMAN	C	320	ENSP00000357791:S320C	ENSP00000357791:S320C	S	-	2	0	HRNR	150459770	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.353000	0.20130	0.272000	0.22027	0.644000	0.83932	TCC		0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		27	119	0	0	0	0.007291	0	27	119		
HRNR	388697	broad.mit.edu	37	1	152193539	152193539	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:152193539G>T	ENST00000368801.2	-	3	641	c.566C>A	c.(565-567)tCt>tAt	p.S189Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	189					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGGCCTGAAGACTGATGGGA	0.537																																						uc001ezt.1		NaN																	0				skin(2)|ovary(1)	3						c.(565-567)TCT>TAT		hornerin							72.0	80.0	77.0					1																	152193539		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193539G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.566C>A	1.37:g.152193539G>T	ENSP00000357791:p.Ser189Tyr						p.S189Y	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	642	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		189			2.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.566C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	5.083	0.201023	0.09652	.	.	ENSG00000197915	ENST00000368801	T	0.01902	4.57	2.96	2.96	0.34315	.	.	.	.	.	T	0.02012	0.0063	N	0.24115	0.695	0.09310	N	1	D	0.59357	0.985	D	0.68039	0.955	T	0.52689	-0.8542	9	0.54805	T	0.06	.	8.1241	0.30988	0.0:0.251:0.749:0.0	.	189	Q86YZ3	HORN_HUMAN	Y	189	ENSP00000357791:S189Y	ENSP00000357791:S189Y	S	-	2	0	HRNR	150460163	0.002000	0.14202	0.002000	0.10522	0.003000	0.03518	0.796000	0.26986	1.644000	0.50603	0.539000	0.68188	TCT		0.537	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		5	75	1	0	2.32416e-17	0.002299	2.49044e-17	5	75		
CLK2	1196	broad.mit.edu	37	1	155234440	155234440	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:155234440G>A	ENST00000368361.4	-	9	1374	c.1059C>T	c.(1057-1059)atC>atT	p.I353I	SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000361168.5_Silent_p.I352I|CLK2_ENST00000355560.4_Silent_p.I351I|SCAMP3_ENST00000355379.3_5'Flank|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Silent_p.I353I			P49760	CLK2_HUMAN	CDC-like kinase 2	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTTACCAAGGATGACTTCTG	0.552								Other conserved DNA damage response genes																														uc001fjy.2		NaN																	0					0						c.(1057-1059)ATC>ATT	Other_conserved_DNA_damage_response_genes	CDC-like kinase 2							176.0	148.0	157.0					1																	155234440		2203	4300	6503	SO:0001819	synonymous_variant	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155234440G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1059C>T	1.37:g.155234440G>A						RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Silent_p.I352I|CLK2_uc001fjx.2_Silent_p.I125I|CLK2_uc009wqm.2_Silent_p.I353I	p.I353I	NM_003993	NP_003984	P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		9	1349	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		353			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	ENST00000368361.4	37	c.1059C>T																																																																																					0.552	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1		NM_003993		37	156	0	0	0	0.00361	0	37	156		
YY1AP1	55249	broad.mit.edu	37	1	155630385	155630385	+	Nonsense_Mutation	SNP	G	G	T	rs373963422		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:155630385G>T	ENST00000295566.4	-	11	1477	c.1454C>A	c.(1453-1455)tCa>tAa	p.S485*	YY1AP1_ENST00000359205.5_Nonsense_Mutation_p.S428*|YY1AP1_ENST00000368339.5_Nonsense_Mutation_p.S577*|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368330.2_Nonsense_Mutation_p.S439*|YY1AP1_ENST00000355499.4_Nonsense_Mutation_p.S439*|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Nonsense_Mutation_p.S428*|YY1AP1_ENST00000404643.1_Nonsense_Mutation_p.S419*|YY1AP1_ENST00000347088.5_Nonsense_Mutation_p.S439*|YY1AP1_ENST00000535662.1_Nonsense_Mutation_p.S285*|YY1AP1_ENST00000311573.5_Nonsense_Mutation_p.S408*|YY1AP1_ENST00000368340.5_Nonsense_Mutation_p.S557*|YY1AP1_ENST00000407221.1_Nonsense_Mutation_p.S408*	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	485					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGGGGCTTCTGAATGAGTTGA	0.552																																						uc001fln.2		NaN																	0				ovary(2)|skin(1)	3						c.(1453-1455)TCA>TAA		YY1-associated protein isoform 2							82.0	96.0	91.0					1																	155630385		2203	4300	6503	SO:0001587	stop_gained	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155630385G>T	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1454C>A	1.37:g.155630385G>T	ENSP00000295566:p.Ser485*					YY1AP1_uc001flg.2_Nonsense_Mutation_p.S224*|YY1AP1_uc010pgg.1_Nonsense_Mutation_p.S324*|YY1AP1_uc010pgh.1_Nonsense_Mutation_p.S428*|YY1AP1_uc010pgi.1_Nonsense_Mutation_p.S577*|YY1AP1_uc001flh.2_Nonsense_Mutation_p.S557*|YY1AP1_uc009wqt.2_Nonsense_Mutation_p.S408*|YY1AP1_uc001flk.2_Nonsense_Mutation_p.S428*|YY1AP1_uc001fll.2_Nonsense_Mutation_p.S439*|YY1AP1_uc009wqv.2_Nonsense_Mutation_p.S156*|YY1AP1_uc001flm.2_Nonsense_Mutation_p.S428*|YY1AP1_uc001fli.2_Nonsense_Mutation_p.S439*|YY1AP1_uc009wqu.2_Nonsense_Mutation_p.S272*|YY1AP1_uc001flj.2_Nonsense_Mutation_p.S419*|YY1AP1_uc009wqw.2_Nonsense_Mutation_p.S408*|YY1AP1_uc001flo.2_Nonsense_Mutation_p.S373*|YY1AP1_uc001flp.2_Nonsense_Mutation_p.S439*|YY1AP1_uc010pgj.1_3'UTR	p.S485*	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			11	1478	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		485					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Nonsense_Mutation	SNP	ENST00000295566.4	37	c.1454C>A	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	g	16.82	3.228878	0.58777	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	.	.	.	2.3	2.3	0.28687	.	0.539131	0.16880	N	0.195722	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5922	0.56449	0.0:0.0:1.0:0.0	.	.	.	.	X	428;439;408;439;428;557;485;439;408;419;577;285	.	ENSP00000295566:S485X	S	-	2	0	YY1AP1	153897009	0.192000	0.23301	0.254000	0.24359	0.268000	0.26511	3.387000	0.52501	1.294000	0.44707	0.306000	0.20318	TCA		0.552	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1		NM_139118		114	69	1	0	3.52435e-65	0.00361	3.89036e-65	114	69		
KIAA0907	22889	broad.mit.edu	37	1	155891202	155891202	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:155891202C>T	ENST00000368321.3	-	10	1253	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Silent_p.P410P|KIAA0907_ENST00000482337.1_5'Flank|KIAA0907_ENST00000368319.3_Missense_Mutation_p.D377N	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	410	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTGTGTTATCGGGTATTGTG	0.493																																						uc001fmi.1		NaN																	0					0						c.(1228-1230)CCG>CCA		hypothetical protein LOC22889							101.0	95.0	97.0					1																	155891202		2203	4300	6503	SO:0001819	synonymous_variant	22889							g.chr1:155891202C>T	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1230G>A	1.37:g.155891202C>T						KIAA0907_uc001fmj.1_Silent_p.P410P|KIAA0907_uc009wrk.1_Silent_p.P267P|KIAA0907_uc009wrl.1_RNA|SNORA42_uc001fmk.1_5'Flank|KIAA0907_uc001fml.1_Missense_Mutation_p.D377N	p.P410P	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		10	1254	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		410			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Silent	SNP	ENST00000368321.3	37	c.1230G>A	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134681	0.37630	.	.	ENSG00000132680	ENST00000368319	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	T	0.11324	0.0276	.	.	.	0.22851	N	0.998657	B	0.15141	0.012	B	0.08055	0.003	T	0.09552	-1.0669	7	0.15952	T	0.53	-6.4818	10.6548	0.45669	0.0:0.8572:0.0:0.1428	.	377	Q7Z7F0-3	.	N	377	.	ENSP00000357302:D377N	D	-	1	0	KIAA0907	154157826	0.986000	0.35501	1.000000	0.80357	0.951000	0.60555	0.103000	0.15292	2.793000	0.96121	0.561000	0.74099	GAT		0.493	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1		NM_014949		23	100	0	0	0	0.005443	0	23	100		
KIAA0907	22889	broad.mit.edu	37	1	155903521	155903521	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:155903521G>A	ENST00000368321.3	-	2	181	c.158C>T	c.(157-159)tCa>tTa	p.S53L	KIAA0907_ENST00000368320.3_Missense_Mutation_p.S53L|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S53L	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	53							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CAAGGCTCCTGAAGGAGCAGC	0.592																																						uc001fmi.1		NaN																	0					0						c.(157-159)TCA>TTA		hypothetical protein LOC22889							30.0	33.0	32.0					1																	155903521		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155903521G>A	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.158C>T	1.37:g.155903521G>A	ENSP00000357304:p.Ser53Leu					KIAA0907_uc001fmj.1_Missense_Mutation_p.S53L|KIAA0907_uc009wrk.1_Missense_Mutation_p.S53L|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.S53L|KIAA0907_uc001fmm.2_Missense_Mutation_p.S53L|KIAA0907_uc001fmo.2_Missense_Mutation_p.S53L	p.S53L	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		2	182	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		53					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.158C>T	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436054	0.62955	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.28	5.28	0.74379	.	0.070956	0.64402	D	0.000018	T	0.48409	0.1498	M	0.69358	2.11	0.46798	D	0.999205	B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.0	B;B;B;B;B;B	0.08055	0.003;0.003;0.003;0.002;0.003;0.002	T	0.52734	-0.8536	9	0.54805	T	0.06	-14.4106	13.0482	0.58939	0.0774:0.0:0.9225:0.0	.	53;53;53;53;53;53	D3DVA4;Q7Z7F0-4;A8K1I7;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;.;.;K0907_HUMAN	L	53	.	ENSP00000357302:S53L	S	-	2	0	KIAA0907	154170145	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	5.638000	0.67861	2.763000	0.94921	0.650000	0.86243	TCA		0.592	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1		NM_014949		10	22	0	0	0	0.006214	0	10	22		
SMG5	23381	broad.mit.edu	37	1	156230257	156230257	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:156230257G>C	ENST00000361813.5	-	15	2412	c.2268C>G	c.(2266-2268)ctC>ctG	p.L756L	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	756					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CTAAGGTGCTGAGCAGGGGCC	0.562																																						uc001foc.3		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(2266-2268)CTC>CTG		SMG5 homolog nonsense mediated mRNA decay							109.0	108.0	109.0					1																	156230257		2203	4300	6503	SO:0001819	synonymous_variant	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156230257G>C	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2268C>G	1.37:g.156230257G>C						SMG5_uc009wrv.2_Silent_p.L241L	p.L756L	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			15	2417	-	Hepatocellular(266;0.158)		756					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	c.2268C>G	CCDS1137.1																																																																																				0.562	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1		NM_015327		49	161	0	0	0	0.00361	0	49	161		
SMG5	23381	broad.mit.edu	37	1	156247764	156247764	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:156247764C>G	ENST00000361813.5	-	3	393	c.249G>C	c.(247-249)tgG>tgC	p.W83C	SMG5_ENST00000368267.5_Missense_Mutation_p.W83C	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	83					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					ATACCTTTCTCCACAGCAGCT	0.493																																						uc001foc.3		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(247-249)TGG>TGC		SMG5 homolog nonsense mediated mRNA decay							165.0	160.0	162.0					1																	156247764		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156247764C>G	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.249G>C	1.37:g.156247764C>G	ENSP00000355261:p.Trp83Cys						p.W83C	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			3	398	-	Hepatocellular(266;0.158)		83					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.249G>C	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508541	0.85282	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.51574	0.7;0.7	5.46	5.46	0.80206	Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70215	-0.4933	10	0.87932	D	0	-23.1852	18.0678	0.89396	0.0:1.0:0.0:0.0	.	83	Q9UPR3	SMG5_HUMAN	C	83	ENSP00000355261:W83C;ENSP00000357250:W83C	ENSP00000355261:W83C	W	-	3	0	SMG5	154514388	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.430000	0.80321	2.840000	0.97914	0.655000	0.94253	TGG		0.493	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1		NM_015327		29	143	0	0	0	0.009535	0	29	143		
SMG5	23381	broad.mit.edu	37	1	156247778	156247778	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:156247778C>T	ENST00000361813.5	-	3	379	c.235G>A	c.(235-237)Gag>Aag	p.E79K	SMG5_ENST00000368267.5_Missense_Mutation_p.E79K	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	79					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AGCAGCTCCTCAGCCTTTCTC	0.502																																						uc001foc.3		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(235-237)GAG>AAG		SMG5 homolog nonsense mediated mRNA decay							151.0	145.0	147.0					1																	156247778		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156247778C>T	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.235G>A	1.37:g.156247778C>T	ENSP00000355261:p.Glu79Lys						p.E79K	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			3	384	-	Hepatocellular(266;0.158)		79					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.235G>A	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	36	5.740789	0.96873	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.22743	1.94;1.94	5.46	5.46	0.80206	Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36335	-0.9752	10	0.87932	D	0	-36.5362	18.0678	0.89396	0.0:1.0:0.0:0.0	.	79	Q9UPR3	SMG5_HUMAN	K	79	ENSP00000355261:E79K;ENSP00000357250:E79K	ENSP00000355261:E79K	E	-	1	0	SMG5	154514402	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.430000	0.80321	2.840000	0.97914	0.655000	0.94253	GAG		0.502	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1		NM_015327		28	118	0	0	0	0.007291	0	28	118		
CCT3	7203	broad.mit.edu	37	1	156279057	156279057	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:156279057G>A	ENST00000295688.3	-	14	1851	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	CCT3_ENST00000368261.3_Missense_Mutation_p.S479L|CCT3_ENST00000472765.2_Missense_Mutation_p.S479L|CCT3_ENST00000368259.2_Missense_Mutation_p.S486L	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	524					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TTTGTGGCCTGAAACGATGTC	0.512																																						uc001fol.1		NaN																	0				ovary(1)|skin(1)	2						c.(1570-1572)TCA>TTA		chaperonin containing TCP1, subunit 3 isoform a							112.0	113.0	113.0					1																	156279057		2203	4300	6503	SO:0001583	missense	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156279057G>A	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1571C>T	1.37:g.156279057G>A	ENSP00000295688:p.Ser524Leu					CCT3_uc001fom.1_Missense_Mutation_p.S523L|CCT3_uc001fon.1_Missense_Mutation_p.S486L|CCT3_uc010phj.1_Missense_Mutation_p.S478L|CCT3_uc010phk.1_Missense_Mutation_p.S478L|CCT3_uc010phl.1_Missense_Mutation_p.S478L	p.S524L	NM_005998	NP_005989	P49368	TCPG_HUMAN			14	1791	-	Hepatocellular(266;0.158)		524					A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	c.1571C>T	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282696	0.80692	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.81245	0.4782	M	0.87269	2.87	0.80722	D	1	P;P;P	0.41947	0.613;0.645;0.766	B;P;P	0.46850	0.203;0.526;0.529	D	0.84686	0.0720	10	0.87932	D	0	-9.1868	14.616	0.68549	0.0:0.0:1.0:0.0	.	486;523;524	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	L	524;486;479;479	ENSP00000295688:S524L;ENSP00000357242:S486L;ENSP00000357244:S479L;ENSP00000431543:S479L	ENSP00000295688:S524L	S	-	2	0	CCT3	154545681	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.176000	0.94839	2.827000	0.97445	0.650000	0.86243	TCA		0.512	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3		NM_005998		37	183	0	0	0	0.00623	0	37	183		
RRNAD1	51093	broad.mit.edu	37	1	156698908	156698908	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:156698908C>T	ENST00000368216.4	+	1	642	c.12C>T	c.(10-12)atC>atT	p.I4I	ISG20L2_ENST00000313146.6_5'Flank|RRNAD1_ENST00000524343.1_Silent_p.I4I|RRNAD1_ENST00000476229.1_5'Flank|ISG20L2_ENST00000368219.1_5'Flank|RRNAD1_ENST00000368218.4_Silent_p.I4I	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	4						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TGCCGGGCATCTCCGCCCGAG	0.642																																						uc001fpu.2		NaN																	0					0						c.(10-12)ATC>ATT		hypothetical protein LOC51093 isoform 1							47.0	41.0	43.0					1																	156698908		2203	4300	6503	SO:0001819	synonymous_variant	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156698908C>T	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.12C>T	1.37:g.156698908C>T						ISG20L2_uc001fps.1_5'Flank|ISG20L2_uc001fpt.1_5'Flank|C1orf66_uc001fpv.2_Silent_p.I4I	p.I4I	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN			1	646	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		4					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Silent	SNP	ENST00000368216.4	37	c.12C>T	CCDS1154.1																																																																																				0.642	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1		NM_015997		10	36	0	0	0	0.008291	0	10	36		
OR10X1	128367	broad.mit.edu	37	1	158549345	158549345	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:158549345T>A	ENST00000368150.1	-	1	344	c.345A>T	c.(343-345)ttA>ttT	p.L115F		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGCACATCTGTAAGCTACAAC	0.478																																						uc010pin.1		NaN																	0				ovary(1)	1						c.(343-345)TTA>TTT		olfactory receptor, family 10, subfamily X,							98.0	100.0	100.0					1																	158549345		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549345T>A	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.345A>T	1.37:g.158549345T>A	ENSP00000357132:p.Leu115Phe						p.L115F	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	345	-	all_hematologic(112;0.0378)		115			Extracellular (Potential).		Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.345A>T	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.893108	0.33442	.	.	ENSG00000186400	ENST00000368150	T	0.01599	4.74	5.0	-6.74	0.01743	GPCR, rhodopsin-like superfamily (1);	0.244818	0.17359	N	0.177094	T	0.00440	0.0014	L	0.39147	1.195	0.20975	N	0.999815	B	0.19200	0.034	B	0.19391	0.025	T	0.49224	-0.8962	10	0.62326	D	0.03	.	0.7921	0.01059	0.3055:0.144:0.1355:0.4151	.	115	Q8NGY0	O10X1_HUMAN	F	115	ENSP00000357132:L115F	ENSP00000357132:L115F	L	-	3	2	OR10X1	156815969	0.000000	0.05858	0.856000	0.33681	0.695000	0.40330	-2.963000	0.00671	-0.935000	0.03728	0.455000	0.32223	TTA		0.478	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2		NM_001004477		23	129	0	0	0	0.005443	0	23	129		
OR6N2	81442	broad.mit.edu	37	1	158747168	158747168	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:158747168G>A	ENST00000339258.1	-	1	257	c.258C>T	c.(256-258)ctC>ctT	p.L86L		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TCTTCTCACTGAGAATATTAG	0.453																																						uc010pir.1		NaN																	0					0						c.(256-258)CTC>CTT		olfactory receptor, family 6, subfamily N,							147.0	142.0	144.0					1																	158747168		2203	4300	6503	SO:0001819	synonymous_variant	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747168G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.258C>T	1.37:g.158747168G>A							p.L86L	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	258	-	all_hematologic(112;0.0378)		86			Extracellular (Potential).		Q6IFR2	Silent	SNP	ENST00000339258.1	37	c.258C>T	CCDS30906.1																																																																																				0.453	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1				9	232	0	0	0	0.006214	0	9	232		
IFI16	3428	broad.mit.edu	37	1	158985757	158985757	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:158985757G>C	ENST00000295809.7	+	3	616	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	IFI16_ENST00000430894.2_Missense_Mutation_p.E125Q|IFI16_ENST00000340979.6_Missense_Mutation_p.E121Q|IFI16_ENST00000368132.3_Missense_Mutation_p.E121Q|IFI16_ENST00000448393.2_Missense_Mutation_p.E121Q|IFI16_ENST00000368131.4_Missense_Mutation_p.E121Q|IFI16_ENST00000359709.3_Missense_Mutation_p.E121Q			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	121	Lys-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGAAGGAGCAGAGGCAACTCC	0.522																																						uc001ftf.1		NaN																	0				ovary(1)	1						c.(361-363)GAG>CAG		interferon, gamma-inducible protein 16							71.0	64.0	67.0					1																	158985757		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158985757G>C	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.361G>C	1.37:g.158985757G>C	ENSP00000295809:p.Glu121Gln					IFI16_uc001ftg.2_Missense_Mutation_p.E121Q|IFI16_uc010pis.1_Missense_Mutation_p.E121Q	p.E121Q	NM_005531	NP_005522	Q16666	IF16_HUMAN			4	968	+	all_hematologic(112;0.0429)		121			Lys-rich.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.361G>C		.	.	.	.	.	.	.	.	.	.	.	12.48	1.951760	0.34471	.	.	ENSG00000163565	ENST00000359709;ENST00000426592;ENST00000447473;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T;T;T;T	0.24151	3.53;1.87;2.2;3.55;3.56;3.55;3.55;3.53	2.09	-1.44	0.08856	.	.	.	.	.	T	0.14960	0.0361	L	0.59436	1.845	0.09310	N	1	P;D;P	0.56968	0.743;0.978;0.743	B;P;B	0.53035	0.206;0.716;0.264	T	0.06075	-1.0847	9	0.62326	D	0.03	.	2.7474	0.05271	0.3668:0.2513:0.3819:0.0	.	125;121;121	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	Q	121;121;121;121;121;121;121;125	ENSP00000352740:E121Q;ENSP00000406406:E121Q;ENSP00000407052:E121Q;ENSP00000295809:E121Q;ENSP00000342741:E121Q;ENSP00000357113:E121Q;ENSP00000357114:E121Q;ENSP00000394935:E125Q	ENSP00000295809:E121Q	E	+	1	0	IFI16	157252381	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-2.051000	0.01402	-0.367000	0.08052	0.462000	0.41574	GAG		0.522	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1		NM_005531		33	84	0	0	0	0.004878	0	33	84		
CADM3	57863	broad.mit.edu	37	1	159161793	159161793	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:159161793G>A	ENST00000368125.4	+	2	313	c.156G>A	c.(154-156)gtG>gtA	p.V52V	CADM3_ENST00000368124.4_Silent_p.V86V	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	52	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGTGCCAAGTGAAAGATCACG	0.512																																						uc001ftl.2		NaN																	0				ovary(2)	2						c.(154-156)GTG>GTA		cell adhesion molecule 3 isoform 2							117.0	90.0	99.0					1																	159161793		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159161793G>A	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.156G>A	1.37:g.159161793G>A						CADM3_uc009wsx.1_Silent_p.V86V|CADM3_uc009wsy.1_Silent_p.V52V|CADM3_uc001ftk.2_Silent_p.V86V	p.V52V	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			2	298	+	all_hematologic(112;0.0429)		52			Ig-like V-type.|Extracellular (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.156G>A	CCDS44251.1																																																																																				0.512	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1		NM_021189		91	57	0	0	0	0.00361	0	91	57		
CADM3	57863	broad.mit.edu	37	1	159161862	159161862	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:159161862G>A	ENST00000368125.4	+	2	382	c.225G>A	c.(223-225)aaG>aaA	p.K75K	CADM3_ENST00000368124.4_Silent_p.K109K	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	75	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TTGGGGAGAAGAGAGGTAGTA	0.527																																						uc001ftl.2		NaN																	0				ovary(2)	2						c.(223-225)AAG>AAA		cell adhesion molecule 3 isoform 2							92.0	72.0	79.0					1																	159161862		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159161862G>A	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.225G>A	1.37:g.159161862G>A						CADM3_uc009wsx.1_Silent_p.K109K|CADM3_uc009wsy.1_Silent_p.K75K|CADM3_uc001ftk.2_Silent_p.K109K	p.K75K	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			2	367	+	all_hematologic(112;0.0429)		75			Ig-like V-type.|Extracellular (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.225G>A	CCDS44251.1																																																																																				0.527	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1		NM_021189		55	36	0	0	0	0.00361	0	55	36		
COPA	1314	broad.mit.edu	37	1	160267134	160267134	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:160267134C>G	ENST00000241704.7	-	21	2491	c.2262G>C	c.(2260-2262)caG>caC	p.Q754H	COPA_ENST00000368069.3_Splice_Site_p.Q763H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	754					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATACTTACTCTGTCCACAGT	0.453																																						uc009wti.2		NaN																	0				ovary(1)|skin(1)	2						c.(2260-2262)CAG>CAC		coatomer protein complex, subunit alpha isoform							140.0	136.0	137.0					1																	160267134		2203	4300	6503	SO:0001630	splice_region_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160267134C>G	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2263+1G>C	1.37:g.160267134C>G						COPA_uc001fvv.3_Missense_Mutation_p.Q763H	p.Q754H	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		21	2656	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		754					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.2262G>C	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378348	0.42207	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.63744	-0.02;-0.06	4.93	3.06	0.35304	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	M	0.64630	1.985	0.80722	D	1	B;B	0.18610	0.029;0.029	B;B	0.25291	0.042;0.059	T	0.45527	-0.9255	10	0.49607	T	0.09	-17.87	9.0333	0.36271	0.0:0.7561:0.0:0.2439	.	754;763	P53621;P53621-2	COPA_HUMAN;.	H	763;754	ENSP00000357048:Q763H;ENSP00000241704:Q754H	ENSP00000241704:Q754H	Q	-	3	2	COPA	158533758	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.309000	0.33539	0.791000	0.33826	0.650000	0.86243	CAG		0.453	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1		NM_004371	Missense_Mutation	39	338	0	0	0	0.00361	0	39	338		
USP21	27005	broad.mit.edu	37	1	161130796	161130796	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:161130796G>A	ENST00000289865.8	+	2	587	c.366G>A	c.(364-366)atG>atA	p.M122I	RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368001.1_Missense_Mutation_p.M122I|USP21_ENST00000368002.3_Missense_Mutation_p.M122I	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	122					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGCGTCCAATGGGGATTGCCT	0.632																																						uc010pke.1		NaN																	0				ovary(2)|lung(1)|prostate(1)|breast(1)	5						c.(364-366)ATG>ATA		ubiquitin-specific protease 21							84.0	79.0	81.0					1																	161130796		2203	4300	6503	SO:0001583	missense	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161130796G>A	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.366G>A	1.37:g.161130796G>A	ENSP00000289865:p.Met122Ile					USP21_uc010pkc.1_Missense_Mutation_p.M122I|USP21_uc010pkd.1_Missense_Mutation_p.M122I|USP21_uc010pkf.1_Missense_Mutation_p.M122I	p.M122I	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	743	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		122					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	c.366G>A	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409409	0.25378	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.36340	1.26;1.26;1.26	5.14	2.04	0.26737	.	1.091080	0.06909	N	0.807283	T	0.07279	0.0184	N	0.08118	0	0.24841	N	0.992466	B	0.02656	0.0	B	0.01281	0.0	T	0.33752	-0.9856	10	0.48119	T	0.1	.	6.5021	0.22174	0.1721:0.2844:0.5435:0.0	.	122	Q9UK80	UBP21_HUMAN	I	122	ENSP00000356981:M122I;ENSP00000289865:M122I;ENSP00000356980:M122I	ENSP00000289865:M122I	M	+	3	0	USP21	159397420	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.468000	0.22051	0.742000	0.32697	0.561000	0.74099	ATG		0.632	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1				24	209	0	0	0	0.00632	0	24	209		
ATF6	22926	broad.mit.edu	37	1	161789498	161789498	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:161789498G>C	ENST00000367942.3	+	8	1052	c.985G>C	c.(985-987)Gaa>Caa	p.E329Q		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	329	Basic motif.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	GAAGAAGAAAGAATATATGCT	0.413																																						uc001gbr.2		NaN																	0				ovary(2)|skin(1)	3						c.(985-987)GAA>CAA		activating transcription factor 6							69.0	68.0	69.0					1																	161789498		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161789498G>C	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.985G>C	1.37:g.161789498G>C	ENSP00000356919:p.Glu329Gln					ATF6_uc001gbq.1_Missense_Mutation_p.E329Q	p.E329Q	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		8	1052	+	all_hematologic(112;0.156)		329			Cytoplasmic (Potential).		O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.985G>C	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560883	0.86335	.	.	ENSG00000118217	ENST00000367942	T	0.55413	0.52	5.05	5.05	0.67936	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.099404	0.64402	D	0.000002	T	0.59266	0.2181	L	0.47078	1.49	0.51012	D	0.999908	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.972	T	0.64188	-0.6466	9	0.66056	D	0.02	-18.6459	15.9003	0.79369	0.0:0.0:1.0:0.0	.	329;330	P18850;Q59H30	ATF6A_HUMAN;.	Q	329	ENSP00000356919:E329Q	ENSP00000356919:E329Q	E	+	1	0	ATF6	160056122	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.517000	0.90555	2.327000	0.79052	0.650000	0.86243	GAA		0.413	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2		NM_007348		7	93	0	0	0	0.001984	0	7	93		
DUSP27	92235	broad.mit.edu	37	1	167096654	167096654	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:167096654C>A	ENST00000361200.2	+	6	2452	c.2286C>A	c.(2284-2286)tgC>tgA	p.C762*	DUSP27_ENST00000443333.1_Nonsense_Mutation_p.C762*|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.C762*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	762					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGGCTAGCTGCCTGGGGGATG	0.562																																						uc001geb.1		NaN																	0				ovary(3)	3						c.(2284-2286)TGC>TGA		dual specificity phosphatase 27							75.0	63.0	67.0					1																	167096654		2203	4300	6503	SO:0001587	stop_gained	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096654C>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2286C>A	1.37:g.167096654C>A	ENSP00000354483:p.Cys762*						p.C762*	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	2286	+			762					A0AUM4|Q9C074	Nonsense_Mutation	SNP	ENST00000361200.2	37	c.2286C>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	37	6.103683	0.97286	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	.	.	.	4.82	3.91	0.45181	.	0.642698	0.13381	N	0.392143	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-13.8946	3.3635	0.07196	0.2:0.5656:0.0:0.2345	.	.	.	.	X	762	.	ENSP00000271385:C762X	C	+	3	2	DUSP27	165363278	0.016000	0.18221	0.796000	0.32109	0.531000	0.34715	0.508000	0.22692	1.242000	0.43836	0.643000	0.83706	TGC		0.562	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1		NM_001080426		102	33	1	0	6.13486e-44	0.00361	6.7046e-44	102	33		
SCYL3	57147	broad.mit.edu	37	1	169847945	169847945	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:169847945G>A	ENST00000367770.1	-	2	228	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	SCYL3_ENST00000367771.6_Missense_Mutation_p.R61C|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Missense_Mutation_p.R61C			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	61	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.R61C(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAAGGGTGACGAAGTGTCTTC	0.408																																						uc001ggs.2		NaN																	2	Substitution - Missense(2)		large_intestine(2)	ovary(1)|skin(1)	2						c.(181-183)CGT>TGT		SCY1-like 3 isoform 2							101.0	101.0	101.0					1																	169847945		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169847945G>A	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.181C>T	1.37:g.169847945G>A	ENSP00000356744:p.Arg61Cys					SCYL3_uc001ggt.2_Missense_Mutation_p.R61C|SCYL3_uc001ggu.2_RNA	p.R61C	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN			3	379	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		61			Protein kinase.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.181C>T	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293913	0.81025	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88840	0.6546	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90729	0.4641	9	.	.	.	-15.4784	19.0922	0.93231	0.0:0.0:1.0:0.0	.	61;61	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	C	61	ENSP00000356746:R61C;ENSP00000356745:R61C;ENSP00000356744:R61C;ENSP00000407993:R61C	.	R	-	1	0	SCYL3	168114569	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	5.630000	0.67805	2.668000	0.90789	0.563000	0.77884	CGT		0.408	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4		NM_181093		113	41	0	0	0	0.00361	0	113	41		
FMO2	2327	broad.mit.edu	37	1	171174608	171174608	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:171174608G>T	ENST00000209929.7	+	7	1176	c.1018G>T	c.(1018-1020)Gat>Tat	p.D340Y	RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000441535.1_Missense_Mutation_p.D340Y|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	339					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCCTTGAAGATTCACTCGT	0.418																																						uc001ghk.1		NaN																	0				skin(1)	1						c.(1018-1020)GAT>TAT		flavin containing monooxygenase 2							89.0	86.0	87.0					1																	171174608		2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171174608G>T	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1018G>T	1.37:g.171174608G>T	ENSP00000209929:p.Asp340Tyr					FMO2_uc010pmd.1_Missense_Mutation_p.D120Y	p.D340Y	NM_001460	NP_001451	Q99518	FMO2_HUMAN			7	1135	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		340					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.1018G>T	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604627	0.66445	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.56444	0.46;0.46	5.85	5.85	0.93711	.	0.569491	0.20041	N	0.100501	T	0.70245	0.3202	M	0.89968	3.075	0.37758	D	0.926216	P	0.42409	0.779	P	0.59171	0.853	T	0.75491	-0.3299	10	0.87932	D	0	-3.3614	12.9733	0.58525	0.0775:0.0:0.9225:0.0	.	340	Q99518	FMO2_HUMAN	Y	340	ENSP00000209929:D340Y;ENSP00000405905:D340Y	ENSP00000209929:D340Y	D	+	1	0	FMO2	169441232	1.000000	0.71417	0.977000	0.42913	0.968000	0.65278	5.569000	0.67391	2.768000	0.95171	0.655000	0.94253	GAT		0.418	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2		NM_001460		10	27	1	0	0.000673444	0.008291	0.000686996	10	27		
FMO4	2329	broad.mit.edu	37	1	171292305	171292305	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:171292305G>C	ENST00000367749.3	+	4	625	c.295G>C	c.(295-297)Gac>Cac	p.D99H	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	99					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGAGCACTTTGACCTCCTGAA	0.373																																					Pancreas(24;816 862 7754 7993 32832)	uc001gho.2		NaN																	0				kidney(2)|skin(1)	3						c.(295-297)GAC>CAC		flavin containing monooxygenase 4							60.0	58.0	58.0					1																	171292305		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171292305G>C	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.295G>C	1.37:g.171292305G>C	ENSP00000356723:p.Asp99His						p.D99H	NM_002022	NP_002013	P31512	FMO4_HUMAN			4	512	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		99					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.295G>C	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022849	0.35701	.	.	ENSG00000076258	ENST00000367749	T	0.58940	0.3	5.2	3.3	0.37823	.	0.538227	0.21355	N	0.075907	T	0.42291	0.1196	M	0.64997	1.995	0.25733	N	0.985248	B	0.33212	0.402	B	0.43990	0.438	T	0.41893	-0.9483	10	0.49607	T	0.09	-6.9276	5.6409	0.17562	0.2437:0.1864:0.5698:0.0	.	99	P31512	FMO4_HUMAN	H	99	ENSP00000356723:D99H	ENSP00000356723:D99H	D	+	1	0	FMO4	169558929	0.117000	0.22190	1.000000	0.80357	0.996000	0.88848	0.215000	0.17562	1.193000	0.43086	0.650000	0.86243	GAC		0.373	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1		NM_002022		32	44	0	0	0	0.00874	0	32	44		
FMO4	2329	broad.mit.edu	37	1	171293307	171293307	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:171293307G>C	ENST00000367749.3	+	5	682	c.352G>C	c.(352-354)Gac>Cac	p.D118H	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	118					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GAAGCGTCCAGACTTCTCCGA	0.463																																					Pancreas(24;816 862 7754 7993 32832)	uc001gho.2		NaN																	0				kidney(2)|skin(1)	3						c.(352-354)GAC>CAC		flavin containing monooxygenase 4							344.0	319.0	327.0					1																	171293307		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171293307G>C	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.352G>C	1.37:g.171293307G>C	ENSP00000356723:p.Asp118His						p.D118H	NM_002022	NP_002013	P31512	FMO4_HUMAN			5	569	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		118					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.352G>C	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219649	0.79464	.	.	ENSG00000076258	ENST00000367749	T	0.64618	-0.11	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.80984	0.4729	M	0.89214	3.015	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.83892	0.0285	10	0.87932	D	0	-23.9509	19.4202	0.94719	0.0:0.0:1.0:0.0	.	118	P31512	FMO4_HUMAN	H	118	ENSP00000356723:D118H	ENSP00000356723:D118H	D	+	1	0	FMO4	169559931	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	5.259000	0.65485	2.692000	0.91855	0.655000	0.94253	GAC		0.463	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1		NM_002022		123	247	0	0	0	0.00361	0	123	247		
FMO4	2329	broad.mit.edu	37	1	171293376	171293376	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:171293376G>C	ENST00000367749.3	+	5	751	c.421G>C	c.(421-423)Gat>Cat	p.D141H	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	141					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGCTGTCTTTGATGCTGTTAT	0.478																																					Pancreas(24;816 862 7754 7993 32832)	uc001gho.2		NaN																	0				kidney(2)|skin(1)	3						c.(421-423)GAT>CAT		flavin containing monooxygenase 4							526.0	495.0	505.0					1																	171293376		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171293376G>C	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.421G>C	1.37:g.171293376G>C	ENSP00000356723:p.Asp141His						p.D141H	NM_002022	NP_002013	P31512	FMO4_HUMAN			5	638	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		141					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.421G>C	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082650	0.76528	.	.	ENSG00000076258	ENST00000367749	T	0.71461	-0.57	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.87811	0.6271	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89600	0.3834	10	0.72032	D	0.01	-17.8335	19.9457	0.97181	0.0:0.0:1.0:0.0	.	141	P31512	FMO4_HUMAN	H	141	ENSP00000356723:D141H	ENSP00000356723:D141H	D	+	1	0	FMO4	169560000	1.000000	0.71417	0.997000	0.53966	0.364000	0.29643	9.369000	0.97156	2.808000	0.96608	0.655000	0.94253	GAT		0.478	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1		NM_002022		260	469	0	0	0	0.00361	0	260	469		
TNN	63923	broad.mit.edu	37	1	175087808	175087808	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:175087808C>G	ENST00000239462.4	+	11	2611	c.2498C>G	c.(2497-2499)tCt>tGt	p.S833C		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	833	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CACTACACGTCTGCCAACGGA	0.612																																						uc001gkl.1		NaN																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2497-2499)TCT>TGT		tenascin N precursor							91.0	81.0	85.0					1																	175087808		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175087808C>G	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2498C>G	1.37:g.175087808C>G	ENSP00000239462:p.Ser833Cys						p.S833C	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	11	2611	+		Breast(1374;0.000962)	833			Fibronectin type-III 7.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2498C>G	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857491	0.51376	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.58797	0.31	5.01	5.01	0.66863	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.112917	0.64402	D	0.000005	D	0.82623	0.5077	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87420	0.2381	10	0.72032	D	0.01	.	18.2646	0.90049	0.0:1.0:0.0:0.0	.	833	Q9UQP3	TENN_HUMAN	C	833;656	ENSP00000239462:S833C	ENSP00000239462:S833C	S	+	2	0	TNN	173354431	0.996000	0.38824	0.785000	0.31869	0.002000	0.02628	4.975000	0.63777	2.473000	0.83533	0.313000	0.20887	TCT		0.612	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1		XM_040527		125	42	0	0	0	0.00361	0	125	42		
MR1	3140	broad.mit.edu	37	1	181019244	181019244	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:181019244G>C	ENST00000367580.5	+	3	431	c.426G>C	c.(424-426)ctG>ctC	p.L142L	MR1_ENST00000282990.6_Silent_p.L142L|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000434571.2_Silent_p.L142L|MR1_ENST00000367579.3_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	142	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	AGGATTTCCTGATCTTCAATA	0.498																																					Colon(174;1412 1962 45296 46549 47110)	uc001goq.1		NaN																	0				skin(1)	1						c.(424-426)CTG>CTC		major histocompatibility complex, class							126.0	115.0	119.0					1																	181019244		2203	4300	6503	SO:0001819	synonymous_variant	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181019244G>C	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.426G>C	1.37:g.181019244G>C						MR1_uc001gop.2_Silent_p.L142L|MR1_uc001gor.1_Intron|MR1_uc001gos.1_Silent_p.L142L|MR1_uc010pns.1_Silent_p.L142L	p.L142L	NM_001531	NP_001522	Q95460	HMR1_HUMAN			3	431	+			142			Extracellular (Potential).|Ligand-binding.|Alpha-2.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Silent	SNP	ENST00000367580.5	37	c.426G>C	CCDS1342.1																																																																																				0.498	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2		NM_001531		39	47	0	0	0	0.009718	0	39	47		
UCHL5	51377	broad.mit.edu	37	1	193028361	193028361	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:193028361G>A	ENST00000367455.4	-	1	265	c.30C>T	c.(28-30)ctC>ctT	p.L10L	UCHL5_ENST00000367454.1_Silent_p.L10L|TROVE2_ENST00000400968.2_5'Flank|UCHL5_ENST00000483156.1_5'Flank|TROVE2_ENST00000367446.3_5'Flank|TROVE2_ENST00000367445.3_5'Flank|TROVE2_ENST00000432079.1_5'Flank|TROVE2_ENST00000367444.3_5'Flank|UCHL5_ENST00000367449.1_Silent_p.L10L|UCHL5_ENST00000367451.4_Silent_p.L10L|UCHL5_ENST00000367448.1_Silent_p.L10L|snoU109_ENST00000458806.1_RNA|UCHL5_ENST00000530098.2_5'UTR|UCHL5_ENST00000367452.4_Intron|TROVE2_ENST00000367443.1_5'Flank|TROVE2_ENST00000416058.2_5'Flank	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	10					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						CGCTTTCCATGAGGCACCACT	0.677																																						uc001gsm.2		NaN																	0				lung(2)|ovary(1)	3						c.(28-30)CTC>CTT		ubiquitin carboxyl-terminal hydrolase L5							45.0	46.0	46.0					1																	193028361		2203	4300	6503	SO:0001819	synonymous_variant	51377				DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:193028361G>A		CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"""INO80 complex subunits"""	19678	protein-coding gene	gene with protein product	"""INO80 complex subunit R"""	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.30C>T	1.37:g.193028361G>A						UCHL5_uc001gsn.2_RNA|UCHL5_uc001gso.2_Silent_p.L10L|UCHL5_uc010pov.1_RNA|UCHL5_uc001gsp.2_Silent_p.L10L|UCHL5_uc001gsq.2_Silent_p.L10L|UCHL5_uc010pow.1_Intron|UCHL5_uc010pox.1_5'UTR|UCHL5_uc001gsr.1_3'UTR|TROVE2_uc001gst.1_5'Flank|TROVE2_uc001gss.2_5'Flank|TROVE2_uc001gsu.1_5'Flank|TROVE2_uc001gsv.1_5'Flank|TROVE2_uc001gsw.2_5'Flank|TROVE2_uc009wyp.2_5'Flank|TROVE2_uc009wyq.2_5'Flank	p.L10L	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN			1	161	-			10					Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Silent	SNP	ENST00000367455.4	37	c.30C>T	CCDS1378.1																																																																																				0.677	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086318.3		NM_015984		13	41	0	0	0	0.004007	0	13	41		
CRB1	23418	broad.mit.edu	37	1	197398672	197398672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:197398672G>T	ENST00000367400.3	+	8	2905	c.2770G>T	c.(2770-2772)Gag>Tag	p.E924*	CRB1_ENST00000535699.1_Nonsense_Mutation_p.E900*|CRB1_ENST00000367397.1_Nonsense_Mutation_p.E305*|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Nonsense_Mutation_p.E405*|CRB1_ENST00000367399.2_Nonsense_Mutation_p.E812*	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	924	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGCCTGTGAGGAGGTTCAGTG	0.547																																						uc001gtz.2		NaN																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(2770-2772)GAG>TAG		crumbs homolog 1 precursor							148.0	129.0	135.0					1																	197398672		2203	4300	6503	SO:0001587	stop_gained	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197398672G>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2770G>T	1.37:g.197398672G>T	ENSP00000356370:p.Glu924*					CRB1_uc010poz.1_Nonsense_Mutation_p.E900*|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Nonsense_Mutation_p.E812*|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Nonsense_Mutation_p.E405*|CRB1_uc001gub.1_Nonsense_Mutation_p.E573*	p.E924*	NM_201253	NP_957705	P82279	CRUM1_HUMAN			8	2905	+			924			Extracellular (Potential).|EGF-like 14.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Nonsense_Mutation	SNP	ENST00000367400.3	37	c.2770G>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586798	0.86851	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	.	.	.	5.55	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	16.7499	0.85482	0.0:0.3897:0.6103:0.0	.	.	.	.	X	900;924;812;405;305;573	.	ENSP00000356367:E305X	E	+	1	0	CRB1	195665295	1.000000	0.71417	0.001000	0.08648	0.004000	0.04260	2.376000	0.44292	0.241000	0.21283	0.655000	0.94253	GAG		0.547	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2		NM_201253		28	62	1	0	8.16721e-17	0.010818	8.70905e-17	28	62		
ZNF281	23528	broad.mit.edu	37	1	200376276	200376276	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:200376276G>C	ENST00000294740.3	-	2	2682	c.2558C>G	c.(2557-2559)tCt>tGt	p.S853C	ZNF281_ENST00000367352.3_Missense_Mutation_p.S817C|ZNF281_ENST00000367353.1_Missense_Mutation_p.S853C	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	853					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TTCTCCATTAGAGTTAGTGAT	0.418																																						uc001gve.2		NaN																	0				ovary(1)|breast(1)	2						c.(2557-2559)TCT>TGT		zinc finger protein 281							110.0	113.0	112.0					1																	200376276		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200376276G>C	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2558C>G	1.37:g.200376276G>C	ENSP00000294740:p.Ser853Cys					ZNF281_uc001gvf.1_Missense_Mutation_p.S853C|ZNF281_uc001gvg.1_Missense_Mutation_p.S817C	p.S853C	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN			2	2665	-			853					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.2558C>G	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485033	0.63962	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.10288	2.9;2.9;2.89	5.61	5.61	0.85477	.	0.165662	0.56097	D	0.000035	T	0.20333	0.0489	N	0.19112	0.55	0.58432	D	0.999992	D;D	0.76494	0.999;0.999	P;P	0.62885	0.908;0.908	T	0.02269	-1.1185	10	0.72032	D	0.01	-9.5363	19.6342	0.95722	0.0:0.0:1.0:0.0	.	817;853	A6NF48;Q9Y2X9	.;ZN281_HUMAN	C	853;853;817;558	ENSP00000294740:S853C;ENSP00000356322:S853C;ENSP00000356321:S817C	ENSP00000294740:S853C	S	-	2	0	ZNF281	198642899	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.471000	0.97696	2.630000	0.89119	0.655000	0.94253	TCT		0.418	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2		NM_012482		24	48	0	0	0	0.00333	0	24	48		
ADIPOR1	51094	broad.mit.edu	37	1	202917512	202917512	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:202917512C>T	ENST00000340990.5	-	3	476	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.E60K|ADIPOR1_ENST00000367254.3_Missense_Mutation_p.E60K	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	60					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)			TCCTCCTCTTCTTCCTGGGGC	0.507																																						uc001gyq.3		NaN																	0					0						c.(178-180)GAA>AAA		adiponectin receptor 1							105.0	92.0	97.0					1																	202917512		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.chr1:202917512C>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.178G>A	1.37:g.202917512C>T	ENSP00000341785:p.Glu60Lys					ADIPOR1_uc010pqd.1_5'UTR|ADIPOR1_uc001gyr.3_5'UTR|ADIPOR1_uc001gys.3_Missense_Mutation_p.E60K	p.E60K	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		3	445	-			60			Cytoplasmic (Potential).		B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.178G>A	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197706	0.79015	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08	5.96	5.05	0.67936	.	0.000000	0.85682	U	0.000000	D	0.92886	0.7737	L	0.46157	1.445	0.58432	D	0.999999	B	0.30482	0.281	B	0.22152	0.038	D	0.90813	0.4703	10	0.17369	T	0.5	.	14.0294	0.64606	0.0:0.9272:0.0:0.0728	.	60	Q96A54	ADR1_HUMAN	K	60	ENSP00000341785:E60K;ENSP00000395469:E60K;ENSP00000402178:E60K;ENSP00000356223:E60K;ENSP00000392946:E60K	ENSP00000341785:E60K	E	-	1	0	ADIPOR1	201184135	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.695000	0.61767	1.536000	0.49237	0.655000	0.94253	GAA		0.507	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2		NM_015999		11	48	0	0	0	0.001368	0	11	48		
USH2A	7399	broad.mit.edu	37	1	216465553	216465553	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:216465553C>G	ENST00000307340.3	-	10	2190	c.1804G>C	c.(1804-1806)Gga>Cga	p.G602R	USH2A_ENST00000366943.2_Missense_Mutation_p.G602R|USH2A_ENST00000366942.3_Missense_Mutation_p.G602R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	602	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAACTCCTCCTCCCCCTCTG	0.423										HNSCC(13;0.011)																												uc001hku.1		NaN																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(1804-1806)GGA>CGA		usherin isoform B							159.0	139.0	146.0					1																	216465553		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216465553C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1804G>C	1.37:g.216465553C>G	ENSP00000305941:p.Gly602Arg	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.G602R	p.G602R	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	10	2191	-			602			Laminin EGF-like 2.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1804G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351931	0.82132	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.61510	0.1;0.1;0.1	4.61	4.61	0.57282	EGF-like, laminin (3);	0.000000	0.41396	U	0.000897	T	0.77751	0.4177	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.99;1.0	T	0.82186	-0.0582	10	0.87932	D	0	.	17.4603	0.87618	0.0:1.0:0.0:0.0	.	602;602	O75445-2;O75445	.;USH2A_HUMAN	R	602	ENSP00000305941:G602R;ENSP00000355910:G602R;ENSP00000355909:G602R	ENSP00000305941:G602R	G	-	1	0	USH2A	214532176	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	6.854000	0.75440	2.122000	0.65172	0.467000	0.42956	GGA		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123		35	173	0	0	0	0.011902	0	35	173		
ESRRG	2104	broad.mit.edu	37	1	216850701	216850701	+	Silent	SNP	G	G	A	rs376743939		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:216850701G>A	ENST00000408911.3	-	2	342	c.189C>T	c.(187-189)gaC>gaT	p.D63D	ESRRG_ENST00000366937.1_Silent_p.D68D|ESRRG_ENST00000359162.2_Silent_p.D40D|ESRRG_ENST00000391890.3_Silent_p.D40D|ESRRG_ENST00000361395.2_Silent_p.D40D|ESRRG_ENST00000493748.1_Silent_p.D40D|ESRRG_ENST00000463665.1_Silent_p.D40D|ESRRG_ENST00000366940.2_Silent_p.D40D|ESRRG_ENST00000360012.3_Silent_p.D40D|ESRRG_ENST00000487276.1_Silent_p.D40D|ESRRG_ENST00000493603.1_Silent_p.D40D|ESRRG_ENST00000366938.2_Silent_p.D40D|ESRRG_ENST00000361525.3_Silent_p.D40D	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	63					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCCCACTGGCGTCTGAAGAGC	0.572																																						uc001hkw.1		NaN																	0				ovary(1)|kidney(1)	2						c.(187-189)GAC>GAT		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)	G	,,,	0,4406		0,0,2203	108.0	97.0	100.0		120,189,120,120	6.2	1.0	1		100	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ESRRG	NM_001134285.2,NM_001438.3,NM_206594.2,NM_206595.2	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	40/436,63/459,40/436,40/436	216850701	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850701G>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.189C>T	1.37:g.216850701G>A						ESRRG_uc001hky.1_Silent_p.D40D|ESRRG_uc009xdp.1_Silent_p.D40D|ESRRG_uc001hkz.1_Silent_p.D40D|ESRRG_uc010puc.1_Silent_p.D40D|ESRRG_uc001hla.1_Silent_p.D40D|ESRRG_uc001hlb.1_Silent_p.D40D|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Silent_p.D40D|ESRRG_uc001hld.1_Silent_p.D40D|ESRRG_uc001hkx.1_Silent_p.D68D|ESRRG_uc009xdo.1_Silent_p.D40D|ESRRG_uc001hle.1_Silent_p.D40D	p.D63D	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	2	355	-			63					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	ENST00000408911.3	37	c.189C>T	CCDS41468.1																																																																																				0.572	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2		NM_206595		39	77	0	0	0	0.007835	0	39	77		
SLC30A10	55532	broad.mit.edu	37	1	220089088	220089088	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:220089088C>A	ENST00000366926.3	-	4	1322	c.1161G>T	c.(1159-1161)ttG>ttT	p.L387F	SLC30A10_ENST00000536446.1_Missense_Mutation_p.L142F|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	387					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GGGGTTCCTTCAAGTCCACAT	0.517																																					Colon(76;360 1614 43677 51136)	uc001hlw.2		NaN																	0					0						c.(1159-1161)TTG>TTT		solute carrier family 30 (zinc transporter),							114.0	110.0	111.0					1																	220089088		2203	4300	6503	SO:0001583	missense	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220089088C>A	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.1161G>T	1.37:g.220089088C>A	ENSP00000355893:p.Leu387Phe					SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.2_Missense_Mutation_p.L142F|SLC30A10_uc001hlx.2_Missense_Mutation_p.L162F	p.L387F	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	4	1372	-			387			Cytoplasmic (Potential).		Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	37	c.1161G>T	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	C	9.098	1.003302	0.19121	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.65364	-0.15;0.47	6.02	2.95	0.34219	.	1.334900	0.05106	N	0.488005	T	0.46034	0.1372	N	0.20483	0.58	0.09310	N	1	B	0.13145	0.007	B	0.20767	0.031	T	0.32428	-0.9907	9	.	.	.	-3.5272	5.226	0.15396	0.1641:0.6663:0.0:0.1696	.	387	Q6XR72	ZNT10_HUMAN	F	387;142	ENSP00000355893:L387F;ENSP00000439489:L142F	.	L	-	3	2	SLC30A10	218155711	0.000000	0.05858	0.027000	0.17364	0.943000	0.58893	0.258000	0.18387	1.558000	0.49541	0.650000	0.86243	TTG		0.517	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1		NM_018713		25	130	1	0	2.79863e-10	0.004656	2.90899e-10	25	130		
CCDC185	164127	broad.mit.edu	37	1	223566977	223566977	+	Missense_Mutation	SNP	G	G	A	rs143800669		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:223566977G>A	ENST00000366875.3	+	1	263	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		54								p.E54K(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TGCGGAGAGCGAAGCTGGGGC	0.736																																						uc001hoa.2		NaN																	1	Substitution - Missense(1)	p.E54K(1)	skin(1)	central_nervous_system(1)|skin(1)	2						c.(160-162)GAA>AAA		hypothetical protein LOC164127							8.0	10.0	10.0					1																	223566977		1932	3983	5915	SO:0001583	missense	164127							g.chr1:223566977G>A																												ENST00000366875.3:c.160G>A	1.37:g.223566977G>A	ENSP00000355840:p.Glu54Lys						p.E54K	NM_152610	NP_689823	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	263	+			54					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.160G>A	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490839	0.64074	.	.	ENSG00000178395	ENST00000366875	T	0.23950	1.88	3.53	2.59	0.31030	.	.	.	.	.	T	0.29850	0.0746	L	0.29908	0.895	0.09310	N	1	D	0.65815	0.995	P	0.56514	0.8	T	0.08249	-1.0731	9	0.72032	D	0.01	.	8.5769	0.33603	0.0:0.2369:0.7631:0.0	.	54	Q8N715	CA065_HUMAN	K	54	ENSP00000355840:E54K	ENSP00000355840:E54K	E	+	1	0	C1orf65	221633600	0.016000	0.18221	0.005000	0.12908	0.023000	0.10783	1.172000	0.31908	0.648000	0.30732	0.563000	0.77884	GAA		0.736	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1				45	15	0	0	0	0.00361	0	45	15		
GALNT2	2590	broad.mit.edu	37	1	230415081	230415081	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:230415081G>C	ENST00000366672.4	+	16	1665	c.1593G>C	c.(1591-1593)ctG>ctC	p.L531L	GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.3_ENST00000414640.1_RNA|GALNT2_ENST00000543760.1_Silent_p.L493L	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	531	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L531L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACTCCAAGCTGAGGCACGTGG	0.582																																						uc010pwa.1		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1591-1593)CTG>CTC		polypeptide N-acetylgalactosaminyltransferase 2							69.0	63.0	65.0					1																	230415081		2203	4300	6503	SO:0001819	synonymous_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230415081G>C	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1593G>C	1.37:g.230415081G>C						GALNT2_uc010pvy.1_Silent_p.L493L|GALNT2_uc001htu.2_Silent_p.L143L	p.L531L	NM_004481	NP_004472	Q10471	GALT2_HUMAN			16	1665	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	531			Lumenal (Potential).|Ricin B-type lectin.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	c.1593G>C	CCDS1582.1																																																																																				0.582	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1		NM_004481		18	60	0	0	0	0.012319	0	18	60		
ARID4B	51742	broad.mit.edu	37	1	235383127	235383127	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:235383127C>A	ENST00000264183.3	-	16	2061	c.1564G>T	c.(1564-1566)Gaa>Taa	p.E522*	ARID4B_ENST00000349213.3_Nonsense_Mutation_p.E522*|ARID4B_ENST00000366603.2_Nonsense_Mutation_p.E522*	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	522	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GCTTTTTCTTCCTCAGCTTCT	0.338																																						uc001hwq.2		NaN																	0				ovary(2)|lung(1)	3						c.(1564-1566)GAA>TAA		AT rich interactive domain 4B isoform 1							203.0	190.0	195.0					1																	235383127		2203	4300	6503	SO:0001587	stop_gained	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235383127C>A	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1564G>T	1.37:g.235383127C>A	ENSP00000264183:p.Glu522*					ARID4B_uc001hwr.2_Nonsense_Mutation_p.E522*|ARID4B_uc001hws.3_Nonsense_Mutation_p.E522*|ARID4B_uc001hwt.3_Nonsense_Mutation_p.E203*	p.E522*	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		16	2062	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	522			Glu-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Nonsense_Mutation	SNP	ENST00000264183.3	37	c.1564G>T	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	C	41	8.762260	0.98943	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834	.	.	.	5.25	5.25	0.73442	.	0.332791	0.31507	N	0.007522	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-21.8781	16.3391	0.83076	0.0:1.0:0.0:0.0	.	.	.	.	X	522	.	ENSP00000264183:E522X	E	-	1	0	ARID4B	233449750	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.296000	0.65698	2.454000	0.82982	0.467000	0.42956	GAA		0.338	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3		NM_016374		17	58	1	0	3.5997e-14	0.002299	3.80161e-14	17	58		
ARID4B	51742	broad.mit.edu	37	1	235383646	235383646	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:235383646C>T	ENST00000264183.3	-	15	1875	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	ARID4B_ENST00000349213.3_Missense_Mutation_p.E460K|ARID4B_ENST00000366603.2_Missense_Mutation_p.E460K	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	460	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTTTTCTTTCAATTTCATCC	0.308																																						uc001hwq.2		NaN																	0				ovary(2)|lung(1)	3						c.(1378-1380)GAA>AAA		AT rich interactive domain 4B isoform 1							93.0	91.0	92.0					1																	235383646		2203	4297	6500	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235383646C>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1378G>A	1.37:g.235383646C>T	ENSP00000264183:p.Glu460Lys					ARID4B_uc001hwr.2_Missense_Mutation_p.E460K|ARID4B_uc001hws.3_Missense_Mutation_p.E460K|ARID4B_uc001hwt.3_Missense_Mutation_p.E141K	p.E460K	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		15	1876	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	460			Glu-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.1378G>A	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085428	0.55861	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.24151	1.87;1.89;1.89;1.9	5.37	5.37	0.77165	.	0.314292	0.33327	N	0.005038	T	0.27798	0.0684	N	0.24115	0.695	0.41880	D	0.990314	P;P;P;P	0.49559	0.925;0.728;0.827;0.734	P;B;B;B	0.49597	0.616;0.217;0.442;0.257	T	0.01416	-1.1360	10	0.24483	T	0.36	-23.2518	19.4745	0.94982	0.0:1.0:0.0:0.0	.	141;460;460;460	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	K	460	ENSP00000264184:E460K;ENSP00000355562:E460K;ENSP00000264183:E460K;ENSP00000391497:E460K	ENSP00000264183:E460K	E	-	1	0	ARID4B	233450269	1.000000	0.71417	0.979000	0.43373	0.906000	0.53458	3.751000	0.55165	2.677000	0.91161	0.585000	0.79938	GAA		0.308	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3		NM_016374		8	31	0	0	0	0.004482	0	8	31		
TBCE	6905	broad.mit.edu	37	1	235611710	235611710	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:235611710C>G	ENST00000366601.3	+	16	1622	c.1446C>G	c.(1444-1446)ctC>ctG	p.L482L	TBCE_ENST00000543662.1_Silent_p.L533L|TBCE_ENST00000406207.1_Silent_p.L482L|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	482					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CACGTCTTCTCAAAGTTCCTG	0.403																																						uc001hwz.1		NaN																	0					0						c.(1444-1446)CTC>CTG		beta-tubulin cofactor E							132.0	128.0	130.0					1																	235611710		2203	4300	6503	SO:0001819	synonymous_variant	6905				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	g.chr1:235611710C>G	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.1446C>G	1.37:g.235611710C>G						TBCE_uc001hxa.1_Silent_p.L482L|TBCE_uc010pxr.1_Silent_p.L533L|TBCE_uc001hxb.1_Silent_p.L369L|B3GALNT2_uc001hxc.2_3'UTR	p.L482L	NM_003193	NP_003184	Q15813	TBCE_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)		16	1569	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	482					A8K8C2|B7Z3P1	Silent	SNP	ENST00000366601.3	37	c.1446C>G	CCDS1605.1																																																																																				0.403	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3		NM_003193		28	117	0	0	0	0.004289	0	28	117		
FH	2271	broad.mit.edu	37	1	241663770	241663770	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:241663770G>C	ENST00000366560.3	-	9	1395	c.1357C>G	c.(1357-1359)Cta>Gta	p.L453V		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	453					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACCAACATTAGAGACTCATTC	0.388			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	uc001hyx.2		NaN	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	Mis|N|F	fumarate hydratase			"""E, M"""		lieomyomatosis|renal			0				lung(3)|ovary(1)|skin(1)	5						c.(1357-1359)CTA>GTA		fumarate hydratase precursor							164.0	157.0	160.0					1																	241663770		2203	4300	6503	SO:0001583	missense	2271	Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241663770G>C	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1357C>G	1.37:g.241663770G>C	ENSP00000355518:p.Leu453Val						p.L453V	NM_000143	NP_000134	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	9	1389	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	453					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.1357C>G	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526479	0.64860	.	.	ENSG00000091483	ENST00000366560	D	0.99656	-6.31	5.71	2.51	0.30379	L-Aspartase-like (1);	0.134831	0.50627	D	0.000106	D	0.99402	0.9789	M	0.81497	2.545	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.99806	1.1038	10	0.87932	D	0	-18.0271	6.3237	0.21232	0.448:0.0:0.552:0.0	.	453	P07954	FUMH_HUMAN	V	453	ENSP00000355518:L453V	ENSP00000355518:L453V	L	-	1	2	FH	239730393	1.000000	0.71417	0.860000	0.33809	0.987000	0.75469	2.372000	0.44257	0.631000	0.30412	0.655000	0.94253	CTA		0.388	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1		NM_000143		134	70	0	0	0	0.00361	0	134	70		
OR1C1	26188	broad.mit.edu	37	1	247920818	247920818	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:247920818C>T	ENST00000408896.2	-	1	1164	c.891G>A	c.(889-891)atG>atA	p.M297I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	297					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M297I(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GTCCCCTCTTCATATCCCTGT	0.428																																						uc010pza.1		NaN																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(889-891)ATG>ATA		olfactory receptor, family 1, subfamily C,							147.0	136.0	139.0					1																	247920818		1908	4136	6044	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920818C>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.891G>A	1.37:g.247920818C>T	ENSP00000386138:p.Met297Ile						p.M297I	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	891	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	297			Cytoplasmic (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.891G>A	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	0.943	-0.708916	0.03230	.	.	ENSG00000221888	ENST00000408896	T	0.34859	1.34	3.22	3.22	0.36961	.	.	.	.	.	T	0.17450	0.0419	N	0.10645	0.015	0.09310	N	1	B	0.20887	0.049	B	0.29942	0.109	T	0.26677	-1.0096	9	0.02654	T	1	.	9.2932	0.37800	0.2157:0.7843:0.0:0.0	.	297	Q15619	OR1C1_HUMAN	I	297	ENSP00000386138:M297I	ENSP00000386138:M297I	M	-	3	0	OR1C1	245987441	0.002000	0.14202	0.257000	0.24404	0.202000	0.24057	-1.072000	0.03434	1.798000	0.52647	0.591000	0.81541	ATG		0.428	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1				61	46	0	0	0	0.00361	0	61	46		
PFKP	5214	broad.mit.edu	37	10	3155563	3155563	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:3155563G>A	ENST00000381125.4	+	13	1300		c.e13-1		PFKP_ENST00000381075.2_Splice_Site	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGTTTTGCAGACCAATTGCA	0.607																																						uc001igp.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.e13-1		phosphofructokinase, platelet							40.0	36.0	37.0					10																	3155563		2203	4300	6503	SO:0001630	splice_region_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3155563G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1225-1G>A	10.37:g.3155563G>A						PFKP_uc001igq.2_Splice_Site_p.T401_splice|PFKP_uc009xhr.2_Splice_Site_p.T371_splice|PFKP_uc009xhs.1_Splice_Site_p.T193_splice|PFKP_uc009xht.2_Splice_Site_p.T147_splice|PFKP_uc009xhu.2_5'Flank	p.T409_splice	NM_002627	NP_002618	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	13	1261	+								B3KS15|Q5VSR7|Q5VSR8	Splice_Site	SNP	ENST00000381125.4	37	c.1225_splice	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876764	0.33162	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000415005	.	.	.	5.16	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8514	0.63499	0.0749:0.0:0.9251:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PFKP	3145563	1.000000	0.71417	0.839000	0.33178	0.297000	0.27493	7.539000	0.82063	1.311000	0.45024	-0.137000	0.14449	.		0.607	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1		NM_002627	Intron	6	35	0	0	0	0.001984	0	6	35		
FAM171A1	221061	broad.mit.edu	37	10	15326105	15326105	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:15326105C>G	ENST00000378116.4	-	2	104		c.e2-1			NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AACGTCACCTCTGGAGGTAGA	0.527																																						uc001iob.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.e2-1		hypothetical protein LOC221061 precursor							57.0	48.0	51.0					10																	15326105		2203	4300	6503	SO:0001630	splice_region_variant	221061					integral to membrane		g.chr10:15326105C>G	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.98-1G>C	10.37:g.15326105C>G							p.E33_splice	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			2	105	-								D3DRT9|Q32M49|Q8N4I0	Splice_Site	SNP	ENST00000378116.4	37	c.98_splice	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.230753	0.39399	.	.	ENSG00000148468	ENST00000378116;ENST00000378114;ENST00000396781;ENST00000455654	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4559	0.94889	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM171A1	15366111	1.000000	0.71417	0.999000	0.59377	0.097000	0.18754	7.445000	0.80570	2.669000	0.90835	0.591000	0.81541	.		0.527	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1		XM_167709	Intron	15	65	0	0	0	0.003163	0	15	65		
YME1L1	10730	broad.mit.edu	37	10	27437904	27437904	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:27437904G>A	ENST00000326799.3	-	2	247	c.99C>T	c.(97-99)ctC>ctT	p.L33L	YME1L1_ENST00000376016.3_Silent_p.L33L|YME1L1_ENST00000477432.1_Silent_p.L33L|YME1L1_ENST00000375972.3_Silent_p.L33L	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	33					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ACACTCCACTGAGAGAAACAG	0.408																																						uc001iti.2		NaN																	0				ovary(1)	1						c.(97-99)CTC>CTT		YME1-like 1 isoform 1							213.0	214.0	214.0					10																	27437904		2203	4300	6503	SO:0001819	synonymous_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27437904G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.99C>T	10.37:g.27437904G>A						YME1L1_uc001itj.2_Silent_p.L33L|YME1L1_uc010qdl.1_Silent_p.L33L|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_Silent_p.L33L	p.L33L	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN			2	281	-			33					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.99C>T	CCDS7152.1																																																																																				0.408	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1		NM_139312		49	199	0	0	0	0.00361	0	49	199		
YME1L1	10730	broad.mit.edu	37	10	27437951	27437951	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:27437951G>A	ENST00000326799.3	-	2	200	c.52C>T	c.(52-54)Cat>Tat	p.H18Y	YME1L1_ENST00000376016.3_Missense_Mutation_p.H18Y|YME1L1_ENST00000477432.1_Missense_Mutation_p.H18Y|YME1L1_ENST00000375972.3_Missense_Mutation_p.H18Y	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	18					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTGATGAGATGACTCAGAGGA	0.343																																						uc001iti.2		NaN																	0				ovary(1)	1						c.(52-54)CAT>TAT		YME1-like 1 isoform 1							190.0	193.0	192.0					10																	27437951		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27437951G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.52C>T	10.37:g.27437951G>A	ENSP00000318480:p.His18Tyr					YME1L1_uc001itj.2_Missense_Mutation_p.H18Y|YME1L1_uc010qdl.1_Missense_Mutation_p.H18Y|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_Missense_Mutation_p.H18Y	p.H18Y	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN			2	234	-			18					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.52C>T	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162686	0.78226	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000427324;ENST00000396296	D;D;D	0.94793	-3.26;-3.52;-3.48	5.49	3.62	0.41486	Peptidase M41, FtsH (1);	0.086176	0.85682	D	0.000000	D	0.93197	0.7833	L	0.32530	0.975	0.44268	D	0.997127	P;P;D;D	0.56746	0.92;0.607;0.977;0.969	B;B;P;P	0.54499	0.433;0.168;0.754;0.67	D	0.93408	0.6766	10	0.87932	D	0	-19.9551	12.1164	0.53868	0.141:0.0:0.859:0.0	.	18;18;18;18	B4DNM1;Q6PJ89;Q96TA2-2;Q96TA2	.;.;.;YMEL1_HUMAN	Y	18;18;18;18;18;10	ENSP00000365184:H18Y;ENSP00000318480:H18Y;ENSP00000365139:H18Y	ENSP00000318480:H18Y	H	-	1	0	YME1L1	27477957	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.432000	0.90288	1.323000	0.45263	0.655000	0.94253	CAT		0.343	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1		NM_139312		33	157	0	0	0	0.00361	0	33	157		
YME1L1	10730	broad.mit.edu	37	10	27437957	27437957	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:27437957G>A	ENST00000326799.3	-	2	194	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	YME1L1_ENST00000376016.3_Silent_p.L16L|YME1L1_ENST00000477432.1_Silent_p.L16L|YME1L1_ENST00000375972.3_Silent_p.L16L	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	16					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGATGACTCAGAGGAACTGTA	0.338																																						uc001iti.2		NaN																	0				ovary(1)	1						c.(46-48)CTG>TTG		YME1-like 1 isoform 1							177.0	182.0	181.0					10																	27437957		2203	4300	6503	SO:0001819	synonymous_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27437957G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.46C>T	10.37:g.27437957G>A						YME1L1_uc001itj.2_Silent_p.L16L|YME1L1_uc010qdl.1_Silent_p.L16L|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_Silent_p.L16L	p.L16L	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN			2	228	-			16					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.46C>T	CCDS7152.1																																																																																				0.338	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1		NM_139312		28	139	0	0	0	0.006999	0	28	139		
WAC	51322	broad.mit.edu	37	10	28897142	28897142	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:28897142C>G	ENST00000354911.4	+	8	1108	c.947C>G	c.(946-948)tCa>tGa	p.S316*	WAC_ENST00000428935.1_Nonsense_Mutation_p.S271*|WAC_ENST00000347934.4_Nonsense_Mutation_p.S213*|WAC_ENST00000375664.4_Nonsense_Mutation_p.S271*|WAC_ENST00000375646.1_Nonsense_Mutation_p.S168*	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	316					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AAACCCGTATCACATTCTTGC	0.433																																						uc001iuf.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(946-948)TCA>TGA		WW domain-containing adapter with a coiled-coil							168.0	158.0	162.0					10																	28897142		2203	4300	6503	SO:0001587	stop_gained	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28897142C>G	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.947C>G	10.37:g.28897142C>G	ENSP00000346986:p.Ser316*					WAC_uc001iud.2_Nonsense_Mutation_p.S271*|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Nonsense_Mutation_p.S271*|WAC_uc001iug.2_Nonsense_Mutation_p.S213*|WAC_uc001iuh.2_Nonsense_Mutation_p.S271*	p.S316*	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			8	1032	+			316					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Nonsense_Mutation	SNP	ENST00000354911.4	37	c.947C>G	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	C	39	7.872258	0.98537	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000424454;ENST00000538000	.	.	.	5.38	5.38	0.77491	.	0.508381	0.21735	N	0.069910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-0.4219	17.6618	0.88195	0.0:1.0:0.0:0.0	.	.	.	.	X	271;168;213;316;271;271;271	.	ENSP00000311106:S213X	S	+	2	0	WAC	28937148	1.000000	0.71417	0.967000	0.41034	0.933000	0.57130	5.281000	0.65609	2.676000	0.91093	0.591000	0.81541	TCA		0.433	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1		NM_100264		66	107	0	0	0	0.00361	0	66	107		
PARD3	56288	broad.mit.edu	37	10	34805961	34805961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:34805961G>A	ENST00000374789.3	-	3	674	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	PARD3_ENST00000545693.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.Q117*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	117					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGGTAAGGCTGAAAGGCTGAG	0.473																																						uc010qej.1		NaN																	0				ovary(1)	1						c.(349-351)CAG>TAG		partitioning-defective protein 3 homolog							157.0	139.0	145.0					10																	34805961		2203	4300	6503	SO:0001587	stop_gained	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34805961G>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.349C>T	10.37:g.34805961G>A	ENSP00000363921:p.Gln117*					PARD3_uc010qek.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qel.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qem.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qen.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qeo.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qep.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qeq.1_Nonsense_Mutation_p.Q117*|PARD3_uc001ixp.1_5'UTR|PARD3_uc001ixq.1_Nonsense_Mutation_p.Q117*|PARD3_uc001ixr.1_Nonsense_Mutation_p.Q117*|PARD3_uc001ixt.1_5'UTR|PARD3_uc001ixu.1_Nonsense_Mutation_p.Q117*	p.Q117*	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			3	349	-		Breast(68;0.0707)	117					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Nonsense_Mutation	SNP	ENST00000374789.3	37	c.349C>T	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	37	6.467853	0.97590	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	.	.	.	5.93	5.93	0.95920	.	0.234684	0.45126	D	0.000388	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	ENSP00000341844:Q117X	Q	-	1	0	PARD3	34845967	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	CAG		0.473	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1		NM_019619		46	78	0	0	0	0.00361	0	46	78		
PCDH15	65217	broad.mit.edu	37	10	55569091	55569091	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:55569091G>A	ENST00000395445.1	-	36	5113	c.4719C>T	c.(4717-4719)cgC>cgT	p.R1573R	PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395440.1_Silent_p.R507R|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Silent_p.R438R|PCDH15_ENST00000395446.1_Silent_p.R769R|PCDH15_ENST00000373965.2_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTCCTCAAGGCGTCTCTGCC	0.428										HNSCC(58;0.16)																												uc010qhs.1		NaN																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4732-4734)CGC>CGT		protocadherin 15 isoform CD2-1 precursor							142.0	125.0	130.0					10																	55569091		1568	3582	5150	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55569091G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4719C>T	10.37:g.55569091G>A		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Silent_p.R1571R|PCDH15_uc010qhu.1_3'UTR	p.R1578R	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			37	5129	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000395445.1	37	c.4734C>T																																																																																					0.428	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1		NM_033056		9	31	0	0	0	0.010729	0	9	31		
DDX21	9188	broad.mit.edu	37	10	70733307	70733307	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:70733307G>C	ENST00000354185.4	+	10	1653	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	519	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ATAGGATGTAGAGTCCTACAT	0.443																																						uc001jov.1		NaN																	0				ovary(2)|kidney(1)	3						c.(1555-1557)GAG>CAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 21							76.0	76.0	76.0					10																	70733307		2203	4300	6503	SO:0001583	missense	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70733307G>C	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.1555G>C	10.37:g.70733307G>C	ENSP00000346120:p.Glu519Gln					DDX21_uc001jow.1_Missense_Mutation_p.E451Q	p.E519Q	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN			10	1645	+			519			Helicase C-terminal.		B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	c.1555G>C	CCDS31211.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955730	0.92726	.	.	ENSG00000165732	ENST00000354185	T	0.76060	-0.99	5.07	5.07	0.68467	Helicase, C-terminal (3);	0.144192	0.64402	D	0.000008	D	0.83931	0.5361	L	0.53780	1.695	0.58432	D	0.999992	D	0.76494	0.999	D	0.74023	0.982	D	0.85555	0.1224	10	0.87932	D	0	-33.3336	18.8299	0.92133	0.0:0.0:1.0:0.0	.	519	Q9NR30	DDX21_HUMAN	Q	519	ENSP00000346120:E519Q	ENSP00000346120:E519Q	E	+	1	0	DDX21	70403313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.175000	0.94831	2.493000	0.84123	0.655000	0.94253	GAG		0.443	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1		NM_004728		35	22	0	0	0	0.010771	0	35	22		
HKDC1	80201	broad.mit.edu	37	10	70992797	70992797	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:70992797G>T	ENST00000354624.5	+	4	536	c.403G>T	c.(403-405)Gca>Tca	p.A135S	HKDC1_ENST00000395086.2_Missense_Mutation_p.A135S|RP11-227H15.4_ENST00000450995.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	135	Hexokinase type-1 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGACTGTCTGGCAGATTTCAT	0.468																																						uc001jpf.3		NaN																	0				ovary(4)|skin(1)	5						c.(403-405)GCA>TCA		hexokinase domain containing 1							108.0	96.0	100.0					10																	70992797		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:70992797G>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.403G>T	10.37:g.70992797G>T	ENSP00000346643:p.Ala135Ser					HKDC1_uc010qje.1_5'UTR	p.A135S	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN			4	536	+			135					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.403G>T	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	8.664	0.901187	0.17760	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.98178	-4.77;-4.77	4.3	3.36	0.38483	Hexokinase, N-terminal (1);	0.331571	0.31167	N	0.008125	D	0.95017	0.8387	L	0.39467	1.215	0.34102	D	0.661975	B	0.06786	0.001	B	0.10450	0.005	D	0.92196	0.5764	10	0.08179	T	0.78	-6.091	12.5686	0.56323	0.0:0.0:0.6836:0.3164	.	135	Q2TB90	HKDC1_HUMAN	S	135	ENSP00000346643:A135S;ENSP00000378521:A135S	ENSP00000346643:A135S	A	+	1	0	HKDC1	70662803	0.789000	0.28775	0.994000	0.49952	0.980000	0.70556	1.217000	0.32455	1.097000	0.41459	0.561000	0.74099	GCA		0.468	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1		NM_025130		14	48	1	0	7.93312e-07	0.00245	8.15589e-07	14	48		
COX15	1355	broad.mit.edu	37	10	101480768	101480768	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:101480768G>C	ENST00000016171.5	-	6	858	c.808C>G	c.(808-810)Ctg>Gtg	p.L270V	CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Missense_Mutation_p.L270V			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	270					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		AGGAACACCAGACCTGCTGTT	0.463																																						uc001kqb.3		NaN																	0				ovary(1)	1						c.(808-810)CTG>GTG		COX15 homolog isoform 1							106.0	87.0	93.0					10																	101480768		2203	4300	6503	SO:0001583	missense	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101480768G>C	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.808C>G	10.37:g.101480768G>C	ENSP00000016171:p.Leu270Val					COX15_uc001kqc.3_Missense_Mutation_p.L270V|COX15_uc010qpj.1_Missense_Mutation_p.L91V	p.L270V	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	6	1425	-		Colorectal(252;0.234)	270			Helical; (Potential).		A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	c.808C>G	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707674	0.68615	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.83992	-1.79;-1.79	5.11	0.979	0.19745	.	0.064498	0.64402	D	0.000006	D	0.87055	0.6082	M	0.77313	2.365	0.53005	D	0.999969	P;P	0.52692	0.944;0.955	P;P	0.58520	0.837;0.84	D	0.84286	0.0497	10	0.54805	T	0.06	-3.3547	8.8751	0.35340	0.3268:0.0:0.6732:0.0	.	270;270	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	V	270	ENSP00000359514:L270V;ENSP00000016171:L270V	ENSP00000016171:L270V	L	-	1	2	COX15	101470758	1.000000	0.71417	0.660000	0.29694	0.974000	0.67602	3.447000	0.52936	-0.092000	0.12417	0.555000	0.69702	CTG		0.463	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1		NP_510870		7	13	0	0	0	0.006214	0	7	13		
ABCC2	1244	broad.mit.edu	37	10	101567904	101567904	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:101567904A>C	ENST00000370449.4	+	13	1846	c.1733A>C	c.(1732-1734)aAg>aCg	p.K578T		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	578	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GATGCACAAAAGGCCTTCACC	0.463																																						uc001kqf.2		NaN																	0				ovary(1)	1						c.(1732-1734)AAG>ACG		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						301.0	260.0	274.0					10																	101567904		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101567904A>C	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1733A>C	10.37:g.101567904A>C	ENSP00000359478:p.Lys578Thr						p.K578T	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	13	1872	+		Colorectal(252;0.234)	578			ABC transmembrane type-1 1.|Extracellular (By similarity).		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.1733A>C	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.371125	0.61624	.	.	ENSG00000023839	ENST00000370449	D	0.89485	-2.52	5.73	4.53	0.55603	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.044915	0.85682	D	0.000000	D	0.90380	0.6989	L	0.45352	1.415	0.80722	D	1	D	0.55800	0.973	D	0.63283	0.913	D	0.89042	0.3449	10	0.35671	T	0.21	-19.5407	12.5452	0.56195	0.8611:0.1389:0.0:0.0	.	578	Q92887	MRP2_HUMAN	T	578	ENSP00000359478:K578T	ENSP00000359478:K578T	K	+	2	0	ABCC2	101557894	1.000000	0.71417	0.995000	0.50966	0.513000	0.34164	6.138000	0.71717	2.183000	0.69458	0.459000	0.35465	AAG		0.463	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1		NM_000392		20	107	0	0	0	0.008871	0	20	107		
PNLIPRP1	5407	broad.mit.edu	37	10	118365052	118365052	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:118365052G>C	ENST00000528052.1	+	12	1398	c.1327G>C	c.(1327-1329)Gaa>Caa	p.E443Q	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.E443Q|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.E443Q			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	443	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GCAAAAGGGAGAAGAGAAGAC	0.403																																						uc001lco.1		NaN																	0				ovary(1)|breast(1)	2						c.(1327-1329)GAA>CAA		pancreatic lipase-related protein 1 precursor							82.0	88.0	86.0					10																	118365052		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118365052G>C	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.1327G>C	10.37:g.118365052G>C	ENSP00000433933:p.Glu443Gln					PNLIPRP1_uc001lcp.2_Missense_Mutation_p.E443Q	p.E443Q	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	12	1345	+			443			PLAT.		Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.1327G>C	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	g	11.34	1.609267	0.28623	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	T;T;T	0.52526	0.66;0.66;0.66	5.67	4.75	0.60458	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.234974	0.37261	N	0.002165	T	0.44307	0.1287	M	0.66297	2.02	0.80722	D	1	B	0.22851	0.076	B	0.21708	0.036	T	0.36792	-0.9733	10	0.36615	T	0.2	-24.9553	9.0064	0.36115	0.0784:0.1506:0.771:0.0	.	443	P54315	LIPR1_HUMAN	Q	443	ENSP00000351695:E443Q;ENSP00000433933:E443Q;ENSP00000434159:E443Q	ENSP00000351695:E443Q	E	+	1	0	PNLIPRP1	118355042	1.000000	0.71417	0.995000	0.50966	0.842000	0.47809	2.470000	0.45119	1.344000	0.45657	0.645000	0.84053	GAA		0.403	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1		NM_006229		38	44	0	0	0	0.00361	0	38	44		
SLC18A2	6571	broad.mit.edu	37	10	119014792	119014792	+	Silent	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:119014792C>A	ENST00000298472.5	+	7	848	c.705C>A	c.(703-705)ggC>ggA	p.G235G	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	235					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CTGCAGTGGGCCCCCCCTTCG	0.572																																						uc001ldd.1		NaN																	0					0						c.(703-705)GGC>GGA		solute carrier family 18 (vesicular monoamine),	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						63.0	59.0	60.0					10																	119014792		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119014792C>A	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.705C>A	10.37:g.119014792C>A						SLC18A2_uc009xyy.1_Silent_p.G32G	p.G235G	NM_003054	NP_003045	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	7	736	+		Colorectal(252;0.19)	235			Helical; (Potential).		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.705C>A	CCDS7599.1																																																																																				0.572	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1		NM_003054		33	66	1	0	6.33695e-27	0.007835	6.8685e-27	33	66		
EDRF1	26098	broad.mit.edu	37	10	127413965	127413965	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:127413965G>C	ENST00000356792.4	+	5	821	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	C10orf137_ENST00000337623.3_Missense_Mutation_p.E197Q	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAAGAGCAAAGAGCACTGGTA	0.348																																						uc001liq.1		NaN																	0				ovary(5)|large_intestine(3)|lung(2)	10						c.(589-591)GAG>CAG		erythroid differentiation-related factor 1							111.0	109.0	110.0					10																	127413965		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127413965G>C																												ENST00000356792.4:c.589G>C	10.37:g.127413965G>C	ENSP00000349244:p.Glu197Gln					C10orf137_uc001lin.2_Missense_Mutation_p.E197Q|C10orf137_uc001lio.1_Missense_Mutation_p.E197Q|C10orf137_uc001lip.1_5'UTR	p.E197Q	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			5	882	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	197					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.589G>C	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650389	0.87958	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.73916	0.3648	L	0.43923	1.385	0.80722	D	1	D;D;D	0.67145	0.991;0.996;0.991	D;D;D	0.78314	0.974;0.991;0.974	T	0.75462	-0.3309	9	0.62326	D	0.03	.	18.6544	0.91445	0.0:0.0:1.0:0.0	.	197;197;197	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	Q	197	.	ENSP00000336727:E197Q	E	+	1	0	C10orf137	127403955	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	9.208000	0.95075	2.708000	0.92522	0.650000	0.86243	GAG		0.348	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1				8	21	0	0	0	0.008291	0	8	21		
PTPRE	5791	broad.mit.edu	37	10	129877885	129877885	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:129877885G>T	ENST00000254667.3	+	20	2233	c.1954G>T	c.(1954-1956)Gcc>Tcc	p.A652S	PTPRE_ENST00000419012.2_Missense_Mutation_p.A652S|PTPRE_ENST00000306042.5_Missense_Mutation_p.A594S	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	652	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A652S(1)|p.A594S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GCGAGTAAAAGCCGAGGGACT	0.458																																					Colon(52;977 1184 20575 41685)	uc001lkb.2		NaN																	2	Substitution - Missense(2)		endometrium(2)	ovary(1)	1						c.(1954-1956)GCC>TCC		protein tyrosine phosphatase, receptor type, E							106.0	103.0	104.0					10																	129877885		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129877885G>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1954G>T	10.37:g.129877885G>T	ENSP00000254667:p.Ala652Ser					PTPRE_uc009yat.2_Missense_Mutation_p.A663S|PTPRE_uc009yau.2_Missense_Mutation_p.A652S|PTPRE_uc001lkd.2_Missense_Mutation_p.A594S|PTPRE_uc010quq.1_Intron	p.A652S	NM_006504	NP_006495	P23469	PTPRE_HUMAN			20	2233	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	652			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.1954G>T	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222637	0.58668	.	.	ENSG00000132334	ENST00000254667;ENST00000419012;ENST00000306042	D;D;D	0.83673	-1.75;-1.75;-1.75	4.65	4.65	0.58169	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	L	0.42581	1.335	0.80722	D	1	P;B;P	0.40230	0.708;0.405;0.708	P;P;P	0.56700	0.804;0.65;0.804	T	0.82444	-0.0454	10	0.22706	T	0.39	.	18.0677	0.89396	0.0:0.0:1.0:0.0	.	652;594;652	Q5VWH4;P23469-2;P23469	.;.;PTPRE_HUMAN	S	652;652;594	ENSP00000254667:A652S;ENSP00000402337:A652S;ENSP00000303350:A594S	ENSP00000254667:A652S	A	+	1	0	PTPRE	129767875	1.000000	0.71417	0.337000	0.25536	0.741000	0.42261	7.728000	0.84847	2.560000	0.86352	0.655000	0.94253	GCC		0.458	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1				3	40	1	0	0.004672	0.004672	0.00472216	3	40		
KNDC1	85442	broad.mit.edu	37	10	135038330	135038330	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:135038330C>G	ENST00000304613.3	+	30	5207	c.5186C>G	c.(5185-5187)tCc>tGc	p.S1729C	KNDC1_ENST00000368572.2_Missense_Mutation_p.S1731C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1729					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CACCAGGTCTCCAGCGAGAAG	0.577																																						uc001llz.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(5185-5187)TCC>TGC		kinase non-catalytic C-lobe domain (KIND)							69.0	62.0	64.0					10																	135038330		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135038330C>G	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.5186C>G	10.37:g.135038330C>G	ENSP00000304437:p.Ser1729Cys						p.S1729C	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	30	5187	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1729					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.5186C>G	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834806	0.50951	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.13657	2.57;2.57	4.41	4.41	0.53225	.	0.743522	0.12820	N	0.436531	T	0.16642	0.0400	N	0.24115	0.695	0.34918	D	0.748126	D	0.59357	0.985	P	0.49999	0.628	T	0.23691	-1.0181	10	0.59425	D	0.04	-6.4317	14.86	0.70372	0.0:1.0:0.0:0.0	.	1729	Q76NI1	VKIND_HUMAN	C	1729;1731	ENSP00000304437:S1729C;ENSP00000357561:S1731C	ENSP00000304437:S1729C	S	+	2	0	KNDC1	134888320	0.060000	0.20803	0.230000	0.23976	0.368000	0.29767	2.847000	0.48270	2.167000	0.68274	0.650000	0.86243	TCC		0.577	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3		NM_152643		36	10	0	0	0	0.011902	0	36	10		
MUC5B	727897	broad.mit.edu	37	11	1272679	1272679	+	Missense_Mutation	SNP	G	G	A	rs540362271		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:1272679G>A	ENST00000529681.1	+	31	14627	c.14569G>A	c.(14569-14571)Gtg>Atg	p.V4857M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.V4860M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4857	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TATAGCCACCGTGATGGTGCC	0.632													a|||	1	0.000199681	0.0	0.0	5008	,	,		19414	0.001		0.0	False		,,,				2504	0.0					uc009ycr.1		NaN																	0					0						c.(15535-15537)GTG>ATG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							93.0	114.0	107.0					11																	1272679		2145	4225	6370	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272679G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14569G>A	11.37:g.1272679G>A	ENSP00000436812:p.Val4857Met					MUC5B_uc001ltb.2_Missense_Mutation_p.V4860M	p.V5179M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	52	15661	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4857			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15535G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.757260	0.00657	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19394	2.15;2.35	1.34	-2.67	0.06059	.	.	.	.	.	T	0.11196	0.0273	L	0.27053	0.805	0.09310	N	1	B;B	0.17667	0.023;0.013	B;B	0.01281	0.0;0.0	T	0.34378	-0.9831	9	0.87932	D	0	.	0.2678	0.00227	0.3428:0.1817:0.2487:0.2268	.	5179;4860	A7Y9J9;E9PBJ0	.;.	M	4857;4860;4801;4556	ENSP00000436812:V4857M;ENSP00000415793:V4860M	ENSP00000343037:V4801M	V	+	1	0	MUC5B	1229255	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.379000	0.00243	-4.889000	0.00028	-3.161000	0.00057	GTG		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2		XM_001126093		32	138	0	0	0	0.004289	0	32	138		
OR52I1	390037	broad.mit.edu	37	11	4616239	4616239	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:4616239C>G	ENST00000530443.2	+	1	971	c.971C>G	c.(970-972)tCa>tGa	p.S324*	OR52I1_ENST00000450052.2_Nonsense_Mutation_p.S348*	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACCTGGGTTCATGAACACAA	0.433																																						uc010qyi.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(970-972)TCA>TGA		olfactory receptor, family 52, subfamily I,							70.0	72.0	71.0					11																	4616239		2201	4298	6499	SO:0001587	stop_gained	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4616239C>G	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.971C>G	11.37:g.4616239C>G	ENSP00000436453:p.Ser324*						p.S324*	NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	971	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	324			Cytoplasmic (Potential).		Q6IF91	Nonsense_Mutation	SNP	ENST00000530443.2	37	c.971C>G	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164954	0.38217	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	.	.	.	4.96	0.85	0.18980	.	0.349892	0.16420	N	0.215218	.	.	.	.	.	.	0.23180	N	0.998167	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.2297	0.03994	0.1434:0.4213:0.2705:0.1647	.	.	.	.	X	348;324	.	ENSP00000409094:S348X	S	+	2	0	OR52I1	4572815	0.000000	0.05858	0.003000	0.11579	0.237000	0.25408	0.033000	0.13754	0.077000	0.16863	0.555000	0.69702	TCA		0.433	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2		NM_001005169		24	89	0	0	0	0.00632	0	24	89		
PIK3C2A	5286	broad.mit.edu	37	11	17172072	17172072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:17172072G>A	ENST00000265970.7	-	3	1299	c.1300C>T	c.(1300-1302)Cag>Tag	p.Q434*	PIK3C2A_ENST00000540361.1_Nonsense_Mutation_p.Q54*|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	434	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						ACTGGTAGCTGAAATCCTTCA	0.403																																						uc001mmq.3		NaN																	0				lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(1300-1302)CAG>TAG		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						168.0	137.0	148.0					11																	17172072		2200	4293	6493	SO:0001587	stop_gained	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17172072G>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1300C>T	11.37:g.17172072G>A	ENSP00000265970:p.Gln434*					PIK3C2A_uc009ygu.1_5'UTR|PIK3C2A_uc010rcw.1_Nonsense_Mutation_p.Q54*|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Nonsense_Mutation_p.Q434*|PIK3C2A_uc009ygv.1_Nonsense_Mutation_p.Q434*	p.Q434*	NM_002645	NP_002636	O00443	P3C2A_HUMAN			3	1366	-			434					B0LPH2|B4E2G4|Q14CQ9	Nonsense_Mutation	SNP	ENST00000265970.7	37	c.1300C>T	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	38	6.735864	0.97801	.	.	ENSG00000011405	ENST00000265970;ENST00000540361;ENST00000544896	.	.	.	6.03	6.03	0.97812	.	0.110927	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-12.4082	20.5666	0.99351	0.0:0.0:1.0:0.0	.	.	.	.	X	434;54;434	.	ENSP00000265970:Q434X	Q	-	1	0	PIK3C2A	17128648	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.808000	0.69165	2.854000	0.98071	0.655000	0.94253	CAG		0.403	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1		NM_002645		25	102	0	0	0	0.008361	0	25	102		
CCDC73	493860	broad.mit.edu	37	11	32705116	32705116	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:32705116G>C	ENST00000335185.5	-	7	438	c.395C>G	c.(394-396)tCt>tGt	p.S132C	CCDC73_ENST00000534415.1_5'UTR|CCDC73_ENST00000531481.1_Missense_Mutation_p.S132C	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	132										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGAGTATTTAGAAACCTTGAA	0.328																																						uc001mtv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(394-396)TCT>TGT		sarcoma antigen NY-SAR-79							39.0	37.0	38.0					11																	32705116		1780	4040	5820	SO:0001583	missense	493860							g.chr11:32705116G>C	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.395C>G	11.37:g.32705116G>C	ENSP00000335325:p.Ser132Cys					CCDC73_uc001mtw.1_Missense_Mutation_p.S132C|CCDC73_uc009yjt.2_Missense_Mutation_p.S132C	p.S132C	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			7	439	-	Breast(20;0.112)		132			Potential.		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.395C>G	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499911	0.64298	.	.	ENSG00000186714	ENST00000335185;ENST00000531481	.	.	.	5.76	4.84	0.62591	.	.	.	.	.	T	0.61311	0.2337	L	0.56769	1.78	0.33728	D	0.617841	B;B;D	0.55385	0.101;0.368;0.971	B;B;P	0.51055	0.083;0.15;0.657	T	0.74811	-0.3538	8	0.62326	D	0.03	.	16.9394	0.86213	0.0:0.1278:0.8722:0.0	.	132;132;132	A6H8Y7;Q6ZRK6-2;Q6ZRK6	.;.;CCD73_HUMAN	C	132	.	ENSP00000335325:S132C	S	-	2	0	CCDC73	32661692	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.980000	0.63812	1.430000	0.47334	0.460000	0.39030	TCT		0.328	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2		NM_001008391		29	7	0	0	0	0.004878	0	29	7		
AMBRA1	55626	broad.mit.edu	37	11	46529801	46529801	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:46529801G>C	ENST00000458649.2	-	9	2697	c.2279C>G	c.(2278-2280)tCt>tGt	p.S760C	AMBRA1_ENST00000533727.1_Missense_Mutation_p.S641C|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S731C|AMBRA1_ENST00000534300.1_Intron|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S670C|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S731C|AMBRA1_ENST00000298834.3_Intron			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	760					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTCTGAGGAAGAGGAGGAGGT	0.517																																						uc010rgu.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(2278-2280)TCT>TGT		activating molecule in beclin-1-regulated							128.0	104.0	113.0					11																	46529801		2201	4299	6500	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46529801G>C	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2279C>G	11.37:g.46529801G>C	ENSP00000415327:p.Ser760Cys					AMBRA1_uc010rgt.1_Missense_Mutation_p.S326C|AMBRA1_uc009ylc.1_Missense_Mutation_p.S731C|AMBRA1_uc001ncu.1_Missense_Mutation_p.S670C|AMBRA1_uc001ncv.2_Missense_Mutation_p.S763C|AMBRA1_uc001ncw.2_Missense_Mutation_p.S641C|AMBRA1_uc001ncx.2_Intron	p.S760C	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	9	2639	-			760					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.2279C>G		.	.	.	.	.	.	.	.	.	.	G	24.9	4.584156	0.86748	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000426438;ENST00000458649;ENST00000528950	D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76	5.83	5.83	0.93111	.	.	.	.	.	D	0.92031	0.7475	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.65815	0.991;0.995;0.975;0.995;0.975	P;P;P;P;P	0.60415	0.62;0.874;0.76;0.874;0.76	D	0.92695	0.6170	9	0.87932	D	0	.	20.1127	0.97915	0.0:0.0:1.0:0.0	.	760;731;641;763;670	Q9C0C7;Q9C0C7-3;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.	C	670;641;731;760;731	ENSP00000318313:S670C;ENSP00000433372:S641C;ENSP00000410899:S731C;ENSP00000415327:S760C;ENSP00000433945:S731C	ENSP00000318313:S670C	S	-	2	0	AMBRA1	46486377	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.954000	0.93051	2.756000	0.94617	0.655000	0.94253	TCT		0.517	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1		NM_017749		24	67	0	0	0	0.008361	0	24	67		
OR4A5	81318	broad.mit.edu	37	11	51412330	51412330	+	Silent	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:51412330T>C	ENST00000319760.6	-	1	118	c.66A>G	c.(64-66)caA>caG	p.Q22Q		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ATAATGCTTTTTGCACACCAG	0.428																																						uc001nhi.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(64-66)CAA>CAG		olfactory receptor, family 4, subfamily A,							44.0	41.0	42.0					11																	51412330		2200	4296	6496	SO:0001819	synonymous_variant	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412330T>C	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.66A>G	11.37:g.51412330T>C							p.Q22Q	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	66	-		all_lung(304;0.236)	22			Extracellular (Potential).		Q6IF84	Silent	SNP	ENST00000319760.6	37	c.66A>G	CCDS31497.1																																																																																				0.428	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1		NM_001005272		10	35	0	0	0	0.001368	0	10	35		
OR4D11	219986	broad.mit.edu	37	11	59271357	59271357	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:59271357C>T	ENST00000313253.1	+	1	309	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGATATTTCTCTTCCACCTCC	0.468																																						uc001noa.1		NaN																	0				ovary(1)|skin(1)	2						c.(307-309)CTC>CTT		olfactory receptor, family 4, subfamily D,							185.0	173.0	177.0					11																	59271357		2201	4295	6496	SO:0001819	synonymous_variant	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271357C>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.309C>T	11.37:g.59271357C>T							p.L103L	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	309	+			103			Helical; Name=3; (Potential).			Silent	SNP	ENST00000313253.1	37	c.309C>T	CCDS31563.1																																																																																				0.468	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1		NM_001004706		109	59	0	0	0	0.00361	0	109	59		
STX3	6809	broad.mit.edu	37	11	59560641	59560641	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:59560641C>T	ENST00000337979.4	+	7	1083	c.536C>T	c.(535-537)tCt>tTt	p.S179F	STX3_ENST00000535361.1_Missense_Mutation_p.S179F|STX3_ENST00000437946.2_Missense_Mutation_p.S82F|STX3_ENST00000529177.1_Missense_Mutation_p.S179F|STX3_ENST00000300150.7_Missense_Mutation_p.S148F	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	179					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						ATCTTCACTTCTGGGGTGAGT	0.562																																						uc001nog.2		NaN																	0				ovary(2)	2						c.(535-537)TCT>TTT		syntaxin 3							94.0	85.0	88.0					11																	59560641		2201	4295	6496	SO:0001583	missense	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59560641C>T	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.536C>T	11.37:g.59560641C>T	ENSP00000338562:p.Ser179Phe					STX3_uc010rkx.1_Missense_Mutation_p.S179F|STX3_uc010rky.1_Missense_Mutation_p.S82F|STX3_uc009ymt.1_Missense_Mutation_p.S82F	p.S179F	NM_004177	NP_004168	Q13277	STX3_HUMAN			7	726	+			179			Cytoplasmic (Potential).		B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	ENST00000337979.4	37	c.536C>T	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989809	0.74589	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000437946;ENST00000529177;ENST00000528805	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	5.09	5.09	0.68999	t-SNARE (1);	0.052325	0.85682	D	0.000000	T	0.32675	0.0837	M	0.75264	2.295	0.58432	D	0.999999	B;B;P;B	0.35612	0.099;0.255;0.512;0.378	B;B;B;B	0.32724	0.003;0.04;0.151;0.072	T	0.32241	-0.9914	10	0.87932	D	0	-35.9908	17.0712	0.86574	0.0:1.0:0.0:0.0	.	82;179;179;179	E7ET77;B4DME0;Q13277-2;Q13277	.;.;.;STX3_HUMAN	F	148;179;179;82;179;131	ENSP00000300150:S148F;ENSP00000338562:S179F;ENSP00000441649:S179F;ENSP00000393536:S82F;ENSP00000433248:S179F;ENSP00000431386:S131F	ENSP00000300150:S148F	S	+	2	0	STX3	59317217	1.000000	0.71417	0.920000	0.36463	0.861000	0.49209	5.504000	0.66968	2.370000	0.80446	0.542000	0.68232	TCT		0.562	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1		NM_004177		20	14	0	0	0	0.002299	0	20	14		
TMEM132A	54972	broad.mit.edu	37	11	60702234	60702234	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:60702234G>A	ENST00000453848.2	+	9	1992	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	TMEM132A_ENST00000005286.4_Missense_Mutation_p.E613K			Q24JP5	T132A_HUMAN	transmembrane protein 132A	612	Binds to HSPA5/GRP78. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CACCTCCATTGAGGTAAGCAG	0.667																																						uc001nqj.2		NaN																	0				skin(1)	1						c.(1834-1836)GAG>AAG		transmembrane protein 132A isoform b							18.0	21.0	20.0					11																	60702234		2181	4269	6450	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60702234G>A	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1834G>A	11.37:g.60702234G>A	ENSP00000405823:p.Glu612Lys					TMEM132A_uc001nqi.2_Missense_Mutation_p.E613K|TMEM132A_uc001nqm.2_5'UTR	p.E612K	NM_178031	NP_821174	Q24JP5	T132A_HUMAN			9	2027	+			612			Binds to HSPA5/GRP78 (By similarity).|Extracellular (Potential).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.1834G>A	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958736	0.53400	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.37235	1.21;1.21	4.01	4.01	0.46588	.	0.536654	0.18136	N	0.150563	T	0.40119	0.1104	N	0.17800	0.525	0.44918	D	0.997931	P;P	0.42993	0.797;0.797	P;P	0.52909	0.693;0.713	T	0.46062	-0.9218	10	0.87932	D	0	.	17.0352	0.86473	0.0:0.0:1.0:0.0	.	612;613	Q24JP5;Q24JP5-2	T132A_HUMAN;.	K	363;612;613	ENSP00000405823:E612K;ENSP00000005286:E613K	ENSP00000005286:E613K	E	+	1	0	TMEM132A	60458810	0.361000	0.24972	1.000000	0.80357	0.314000	0.28054	1.113000	0.31184	2.535000	0.85469	0.305000	0.20034	GAG		0.667	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1		NM_017870		34	19	0	0	0	0.006999	0	34	19		
AHNAK	79026	broad.mit.edu	37	11	62293224	62293224	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:62293224C>G	ENST00000378024.4	-	5	8939	c.8665G>C	c.(8665-8667)Gac>Cac	p.D2889H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2889					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTGCCAGTCTGGACCCTGA	0.517																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(8665-8667)GAC>CAC		AHNAK nucleoprotein isoform 1							196.0	199.0	198.0					11																	62293224		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293224C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8665G>C	11.37:g.62293224C>G	ENSP00000367263:p.Asp2889His					AHNAK_uc001ntk.1_Intron	p.D2889H	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	8965	-		Melanoma(852;0.155)	2889					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8665G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	16.50	3.139329	0.56936	.	.	ENSG00000124942	ENST00000378024	T	0.00995	5.46	3.58	3.58	0.41010	.	0.333957	0.21529	N	0.073066	T	0.07007	0.0178	H	0.96269	3.795	0.41720	D	0.989508	P	0.51537	0.946	P	0.55999	0.789	T	0.03051	-1.1078	10	0.59425	D	0.04	-7.5553	13.3552	0.60623	0.0:1.0:0.0:0.0	.	2889	Q09666	AHNK_HUMAN	H	2889	ENSP00000367263:D2889H	ENSP00000367263:D2889H	D	-	1	0	AHNAK	62049800	0.338000	0.24775	0.654000	0.29608	0.711000	0.40976	0.152000	0.16302	1.708000	0.51301	0.394000	0.25966	GAC		0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		74	257	0	0	0	0.00361	0	74	257		
AHNAK	79026	broad.mit.edu	37	11	62293741	62293741	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:62293741C>T	ENST00000378024.4	-	5	8422	c.8148G>A	c.(8146-8148)ctG>ctA	p.L2716L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2716					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGTCCTTTCAGGTTTAAGT	0.473																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(8146-8148)CTG>CTA		AHNAK nucleoprotein isoform 1							192.0	188.0	190.0					11																	62293741		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62293741C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8148G>A	11.37:g.62293741C>T						AHNAK_uc001ntk.1_Intron	p.L2716L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	8448	-		Melanoma(852;0.155)	2716					A1A586	Silent	SNP	ENST00000378024.4	37	c.8148G>A	CCDS31584.1																																																																																				0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		58	181	0	0	0	0.00361	0	58	181		
AHNAK	79026	broad.mit.edu	37	11	62293851	62293851	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:62293851C>G	ENST00000378024.4	-	5	8312	c.8038G>C	c.(8038-8040)Gat>Cat	p.D2680H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2680					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGTTAACATCAGGGCCTTCA	0.498																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(8038-8040)GAT>CAT		AHNAK nucleoprotein isoform 1							162.0	163.0	162.0					11																	62293851		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293851C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8038G>C	11.37:g.62293851C>G	ENSP00000367263:p.Asp2680His					AHNAK_uc001ntk.1_Intron	p.D2680H	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	8338	-		Melanoma(852;0.155)	2680					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8038G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	17.19	3.325874	0.60743	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.01854	4.6	4.53	3.61	0.41365	.	.	.	.	.	T	0.15609	0.0376	M	0.91717	3.235	0.37475	D	0.91577	D	0.89917	1.0	D	0.91635	0.999	T	0.05599	-1.0875	9	0.87932	D	0	-13.8936	12.1509	0.54050	0.0:0.9142:0.0:0.0858	.	2680	Q09666	AHNK_HUMAN	H	769;2680	ENSP00000367263:D2680H	ENSP00000244934:D769H	D	-	1	0	AHNAK	62050427	0.200000	0.23398	0.027000	0.17364	0.004000	0.04260	2.499000	0.45372	0.892000	0.36259	0.479000	0.44913	GAT		0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		53	159	0	0	0	0.00361	0	53	159		
AHNAK	79026	broad.mit.edu	37	11	62295310	62295310	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:62295310C>G	ENST00000378024.4	-	5	6853	c.6579G>C	c.(6577-6579)ttG>ttC	p.L2193F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2193					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGGCCTTTCAAGTTTAAGT	0.473																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(6577-6579)TTG>TTC		AHNAK nucleoprotein isoform 1							264.0	274.0	271.0					11																	62295310		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295310C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6579G>C	11.37:g.62295310C>G	ENSP00000367263:p.Leu2193Phe					AHNAK_uc001ntk.1_Intron	p.L2193F	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	6879	-		Melanoma(852;0.155)	2193					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6579G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	8.884	0.952408	0.18431	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.03035	4.07	4.22	-0.018	0.13966	.	0.000000	0.26200	U	0.025759	T	0.12008	0.0292	M	0.78285	2.405	0.28400	N	0.918667	D	0.71674	0.998	D	0.71656	0.974	T	0.04635	-1.0937	10	0.66056	D	0.02	.	4.6336	0.12514	0.1397:0.5404:0.0:0.3199	.	2193	Q09666	AHNK_HUMAN	F	282;2193	ENSP00000367263:L2193F	ENSP00000244934:L282F	L	-	3	2	AHNAK	62051886	0.021000	0.18746	0.275000	0.24674	0.173000	0.22820	-0.739000	0.04866	-0.229000	0.09854	-0.701000	0.03672	TTG		0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		106	352	0	0	0	0.00361	0	106	352		
EEF1G	1937	broad.mit.edu	37	11	62327634	62327634	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:62327634C>G	ENST00000329251.4	-	9	1192	c.1062G>C	c.(1060-1062)aaG>aaC	p.K354N	EEF1G_ENST00000378019.3_Missense_Mutation_p.K404N|MIR3654_ENST00000496634.2_3'UTR	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	354	EF-1-gamma C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00519}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGAAGGCATTCTTCCTCAGCT	0.517																																						uc001ntm.1		NaN																	0					0						c.(1060-1062)AAG>AAC		eukaryotic translation elongation factor 1							50.0	48.0	49.0					11																	62327634		1950	4153	6103	SO:0001583	missense	1937				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr11:62327634C>G	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.1062G>C	11.37:g.62327634C>G	ENSP00000331901:p.Lys354Asn					EEF1G_uc010rlw.1_Missense_Mutation_p.K404N|EEF1G_uc001ntn.1_Missense_Mutation_p.K234N	p.K354N	NM_001404	NP_001395	P26641	EF1G_HUMAN			9	1208	-			354			EF-1-gamma C-terminal.		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	37	c.1062G>C	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890632	0.52014	.	.	ENSG00000254772	ENST00000329251;ENST00000378019;ENST00000424909	T;T	0.49139	0.88;0.79	4.67	3.76	0.43208	Translation elongation factor EF1B, gamma chain, conserved (4);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.93678	3.445	0.58432	D	0.999992	P;P;P	0.43519	0.755;0.785;0.809	B;P;P	0.57548	0.432;0.772;0.823	T	0.76751	-0.2844	10	0.87932	D	0	.	10.5785	0.45242	0.0:0.9058:0.0:0.0942	.	404;123;354	B4DTG2;B4DUP0;P26641	.;.;EF1G_HUMAN	N	354;404;123	ENSP00000331901:K354N;ENSP00000367258:K404N	ENSP00000331901:K354N	K	-	3	2	EEF1G	62084210	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.980000	0.49321	1.222000	0.43521	0.537000	0.68136	AAG		0.517	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1		NM_001404		45	19	0	0	0	0.011902	0	45	19		
COX8A	1351	broad.mit.edu	37	11	63742235	63742235	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:63742235C>G	ENST00000314133.3	+	1	157	c.83C>G	c.(82-84)tCg>tGg	p.S28W	AP000721.4_ENST00000535431.1_Missense_Mutation_p.S28W	NM_004074.2	NP_004065.1	P10176	COX8A_HUMAN	cytochrome c oxidase subunit VIIIA (ubiquitous)	28					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)										AAGATCCATTCGTTGCCGCCG	0.687																																						uc001nye.2		NaN																	0					0						c.(82-84)TCG>TGG		cytochrome c oxidase subunit VIIIa precursor							22.0	18.0	20.0					11																	63742235		2199	4294	6493	SO:0001583	missense	1351				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	g.chr11:63742235C>G	J04823	CCDS8054.1	11q12-q13	2011-07-04	2010-04-27	2004-03-24	ENSG00000176340	ENSG00000176340	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2294	protein-coding gene	gene with protein product		123870	"""cytochrome c oxidase subunit VIII"", ""cytochrome c oxidase subunit 8A (ubiquitous)"""	COX8		2543673, 2847943	Standard	NM_004074		Approved	COX8-2, COX8L, VIII-L, COX, VIII	uc001nye.3	P10176	OTTHUMG00000167785	ENST00000314133.3:c.83C>G	11.37:g.63742235C>G	ENSP00000321260:p.Ser28Trp						p.S28W	NM_004074	NP_004065	P10176	COX8A_HUMAN			1	157	+			28			Mitochondrial matrix (By similarity).		P15955	Missense_Mutation	SNP	ENST00000314133.3	37	c.83C>G	CCDS8054.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165727	0.38217	.	.	ENSG00000176340	ENST00000314133	.	.	.	4.82	3.9	0.45041	Cytochrome c oxidase subunit VIII/photosystem I reaction centre subunit IX (1);	0.255071	0.34507	N	0.003912	T	0.64757	0.2627	.	.	.	0.22620	N	0.99893	D	0.89917	1.0	D	0.87578	0.998	T	0.56757	-0.7926	8	0.87932	D	0	-26.9534	10.52	0.44914	0.1935:0.8065:0.0:0.0	.	28	P10176	COX8A_HUMAN	W	28	.	ENSP00000321260:S28W	S	+	2	0	COX8A	63498811	0.146000	0.22672	0.707000	0.30419	0.015000	0.08874	1.144000	0.31565	1.368000	0.46115	-0.181000	0.13052	TCG		0.687	COX8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396273.1		NM_004074		12	20	0	0	0	0.001368	0	12	20		
CTTN	2017	broad.mit.edu	37	11	70281143	70281143	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:70281143G>A	ENST00000301843.8	+	18	1734	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	CTTN_ENST00000538675.1_Missense_Mutation_p.E194K|CTTN_ENST00000346329.3_Missense_Mutation_p.E473K|CTTN_ENST00000376561.3_Missense_Mutation_p.E473K	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	510	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGGCGATGATGAGATCTCATT	0.557																																						uc001opv.3		NaN																	0				ovary(1)	1						c.(1528-1530)GAG>AAG		cortactin isoform a							99.0	91.0	94.0					11																	70281143		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70281143G>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1528G>A	11.37:g.70281143G>A	ENSP00000301843:p.Glu510Lys					CTTN_uc001opu.2_Missense_Mutation_p.E473K|CTTN_uc001opw.3_Missense_Mutation_p.E473K|CTTN_uc010rqm.1_Missense_Mutation_p.E194K|CTTN_uc001opx.2_Missense_Mutation_p.E194K	p.E510K	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	18	1734	+			510			SH3.		Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.1528G>A	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888181	0.72524	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000538675;ENST00000529736	T;T;T;T;T	0.65732	-0.03;-0.03;-0.17;-0.17;-0.17	5.82	4.9	0.64082	Src homology-3 domain (5);	0.226741	0.44097	D	0.000485	D	0.86632	0.5979	H	0.97390	3.995	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;0.997;1.0	D	0.91756	0.5416	10	0.87932	D	0	-39.2937	16.4003	0.83639	0.0:0.0:0.8674:0.1326	.	194;473;510;473	B4E358;Q96H99;Q14247;Q8N707	.;.;SRC8_HUMAN;.	K	473;510;473;194;167	ENSP00000317189:E473K;ENSP00000301843:E510K;ENSP00000365745:E473K;ENSP00000439762:E194K;ENSP00000431421:E167K	ENSP00000301843:E510K	E	+	1	0	CTTN	69958791	1.000000	0.71417	0.804000	0.32291	0.083000	0.17756	9.579000	0.98204	1.442000	0.47568	0.655000	0.94253	GAG		0.557	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2		NM_138565		42	145	0	0	0	0.00361	0	42	145		
TSKU	25987	broad.mit.edu	37	11	76506762	76506762	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:76506762C>T	ENST00000527881.1	+	2	1128	c.102C>T	c.(100-102)ttC>ttT	p.F34F	TSKU_ENST00000333090.4_Silent_p.F34F			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	34	LRRNT.				anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TCGGCCTTTTCGACAGCTTCA	0.662																																						uc001oxt.2		NaN																	0					0						c.(100-102)TTC>TTT		tsukushin precursor							71.0	65.0	67.0					11																	76506762		2200	4292	6492	SO:0001819	synonymous_variant	25987					extracellular region		g.chr11:76506762C>T	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.102C>T	11.37:g.76506762C>T							p.F34F	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN			2	274	+	Ovarian(111;0.112)		34			LRRNT.		B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Silent	SNP	ENST00000527881.1	37	c.102C>T	CCDS8246.1																																																																																				0.662	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1		NM_015516		32	87	0	0	0	0.003271	0	32	87		
TSKU	25987	broad.mit.edu	37	11	76507100	76507100	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:76507100C>T	ENST00000527881.1	+	2	1466	c.440C>T	c.(439-441)tCa>tTa	p.S147L	TSKU_ENST00000333090.4_Missense_Mutation_p.S147L			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	147					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CGGGAGGTCTCAGTGTCTGCC	0.652																																						uc001oxt.2		NaN																	0					0						c.(439-441)TCA>TTA		tsukushin precursor							81.0	75.0	77.0					11																	76507100		2200	4292	6492	SO:0001583	missense	25987					extracellular region		g.chr11:76507100C>T	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.440C>T	11.37:g.76507100C>T	ENSP00000434847:p.Ser147Leu						p.S147L	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN			2	612	+	Ovarian(111;0.112)		147			LRR 4.		B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Missense_Mutation	SNP	ENST00000527881.1	37	c.440C>T	CCDS8246.1	.	.	.	.	.	.	.	.	.	.	C	7.696	0.692056	0.15039	.	.	ENSG00000182704	ENST00000533752;ENST00000333090;ENST00000439807;ENST00000527881	T;T;T	0.55930	0.49;3.73;3.73	5.24	3.35	0.38373	.	0.330064	0.31721	N	0.007162	T	0.42630	0.1211	M	0.62723	1.935	0.30311	N	0.788489	B	0.33583	0.418	B	0.32393	0.145	T	0.39143	-0.9628	10	0.26408	T	0.33	-7.9037	4.8818	0.13683	0.1537:0.617:0.1485:0.0807	.	147	Q8WUA8	TSK_HUMAN	L	147;147;115;147	ENSP00000435133:S147L;ENSP00000332668:S147L;ENSP00000434847:S147L	ENSP00000332668:S147L	S	+	2	0	TSKU	76184748	0.978000	0.34361	0.468000	0.27192	0.009000	0.06853	3.579000	0.53900	0.578000	0.29487	-0.188000	0.12872	TCA		0.652	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1		NM_015516		27	117	0	0	0	0.007291	0	27	117		
TENM4	26011	broad.mit.edu	37	11	78381538	78381538	+	Missense_Mutation	SNP	T	T	C	rs76161186		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:78381538T>C	ENST00000278550.7	-	32	6314	c.5852A>G	c.(5851-5853)gAc>gGc	p.D1951G		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1951					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AGAGAGGCGGTCATTCTTGTC	0.547																																						uc001ozl.3		NaN																	0				ovary(2)|pancreas(2)	4						c.(5851-5853)GAC>GGC		odz, odd Oz/ten-m homolog 4							72.0	75.0	74.0					11																	78381538		1999	4158	6157	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78381538T>C	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5852A>G	11.37:g.78381538T>C	ENSP00000278550:p.Asp1951Gly					ODZ4_uc001ozk.3_Missense_Mutation_p.D176G|ODZ4_uc009yvb.1_Missense_Mutation_p.D535G	p.D1951G	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			32	6315	-			1951			YD 7.|Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.5852A>G	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.832523	0.32421	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.87966	-2.32;1.2	4.93	3.8	0.43715	.	0.000000	0.85682	D	0.000000	D	0.86008	0.5830	N	0.16266	0.395	0.58432	D	0.999999	D	0.69078	0.997	D	0.77004	0.989	D	0.83439	0.0042	9	.	.	.	.	10.6702	0.45753	0.0:0.0751:0.0:0.9249	.	1951	Q6N022	TEN4_HUMAN	G	1951;415	ENSP00000278550:D1951G;ENSP00000431711:D415G	.	D	-	2	0	ODZ4	78059186	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.825000	0.86693	1.015000	0.39444	0.533000	0.62120	GAC		0.547	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2				6	122	0	0	0	0.001984	0	6	122		
FOLH1B	219595	broad.mit.edu	37	11	89424091	89424091	+	RNA	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:89424091C>A	ENST00000532352.1	+	0	1554							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATCACAGTGTCTATGAAACAT	0.373																																						uc001pda.2		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(739-741)GTC>GTA		folate hydrolase 1B							38.0	45.0	42.0					11																	89424091		2201	4288	6489			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424091C>A	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424091C>A							p.V247V	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			11	1267	+			247						Silent	SNP	ENST00000532352.1	37	c.741C>A																																																																																					0.373	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1		NM_153696		5	44	1	0	0.00307968	0.00308	0.00312232	5	44		
USP28	57646	broad.mit.edu	37	11	113694393	113694393	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:113694393C>T	ENST00000003302.4	-	12	1285	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q	RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000260188.5_Missense_Mutation_p.R406Q|USP28_ENST00000544967.1_Missense_Mutation_p.R114Q|USP28_ENST00000537706.1_Missense_Mutation_p.R406Q|USP28_ENST00000545540.1_Missense_Mutation_p.R281Q	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	406	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCTCTTATTTCGAATAAGCTC	0.318																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2		NaN																	0				lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(1216-1218)CGA>CAA		ubiquitin specific protease 28							93.0	86.0	88.0					11																	113694393		2200	4296	6496	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113694393C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1217G>A	11.37:g.113694393C>T	ENSP00000003302:p.Arg406Gln					USP28_uc001pog.2_Missense_Mutation_p.R114Q|USP28_uc010rwy.1_Missense_Mutation_p.R281Q|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.R406Q	p.R406Q	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	12	1250	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	406					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.1217G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926743	0.52759	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706	T;T;T;T;T;T	0.73681	1.54;1.54;1.54;1.54;1.54;-0.77	4.88	4.88	0.63580	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.207155	0.42821	D	0.000660	T	0.62660	0.2446	N	0.20685	0.6	0.37293	D	0.908377	P;P;P;B	0.47962	0.458;0.903;0.811;0.221	B;P;P;B	0.46208	0.061;0.49;0.507;0.043	T	0.66972	-0.5788	10	0.40728	T	0.16	-10.0794	9.2632	0.37625	0.0:0.8694:0.0:0.1306	.	281;406;406;114	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	Q	406;406;114;281;170;406	ENSP00000003302:R406Q;ENSP00000260188:R406Q;ENSP00000442431:R114Q;ENSP00000444991:R281Q;ENSP00000442257:R170Q;ENSP00000445743:R406Q	ENSP00000003302:R406Q	R	-	2	0	USP28	113199603	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	2.943000	0.49026	2.512000	0.84698	0.591000	0.81541	CGA		0.318	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1				11	4	0	0	0	0.00245	0	11	4		
SIAE	54414	broad.mit.edu	37	11	124518069	124518069	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:124518069G>A	ENST00000263593.3	-	6	897	c.725C>T	c.(724-726)tCc>tTc	p.S242F	SIAE_ENST00000545756.1_Missense_Mutation_p.S207F			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	242					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		GTATGGAATGGACCTGAAATC	0.443																																						uc001qan.2		NaN																	0					0						c.(724-726)TCC>TTC		sialate O-acetylesterase precursor							152.0	131.0	138.0					11																	124518069		2201	4299	6500	SO:0001583	missense	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124518069G>A	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.725C>T	11.37:g.124518069G>A	ENSP00000263593:p.Ser242Phe						p.S242F	NM_170601	NP_733746	Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	6	838	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	242					B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	ENST00000263593.3	37	c.725C>T	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	G	7.243	0.601686	0.13939	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.94897	-3.55;-3.55	4.51	-9.01	0.00744	Esterase, SGNH hydrolase-type (1);Domain of unknown function DUF303, acetylesterase putative (1);	1.275430	0.05125	N	0.491512	T	0.81508	0.4837	N	0.04320	-0.23	0.19300	N	0.999974	B	0.02656	0.0	B	0.08055	0.003	T	0.72754	-0.4198	10	0.36615	T	0.2	0.3312	2.8133	0.05448	0.1788:0.0825:0.3872:0.3515	.	242	Q9HAT2	SIAE_HUMAN	F	242;207	ENSP00000263593:S242F;ENSP00000437877:S207F	ENSP00000263593:S242F	S	-	2	0	SIAE	124023279	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.217000	0.09253	-2.535000	0.00489	-0.182000	0.12963	TCC		0.443	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1		NM_170601		23	25	0	0	0	0.003954	0	23	25		
ARHGAP32	9743	broad.mit.edu	37	11	128936700	128936700	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:128936700G>C	ENST00000310343.9	-	6	552	c.553C>G	c.(553-555)Ctg>Gtg	p.L185V	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.L111V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	185	PX; atypical.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TAAATACACAGATGAAGATGT	0.373																																						uc009zcp.2		NaN																	0				lung(3)|ovary(2)	5						c.(553-555)CTG>GTG		Rho GTPase-activating protein isoform 1							80.0	77.0	78.0					11																	128936700		1566	3578	5144	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128936700G>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.553C>G	11.37:g.128936700G>C	ENSP00000310561:p.Leu185Val					ARHGAP32_uc009zcq.1_Missense_Mutation_p.L145V|ARHGAP32_uc001qfb.2_Translation_Start_Site	p.L185V	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			6	553	-			185			PX; atypical.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.553C>G	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676931	0.67928	.	.	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677;ENST00000525234	T;T;T	0.38401	1.14;1.14;1.14	5.05	1.86	0.25419	Phox homologous domain (3);	.	.	.	.	T	0.49270	0.1547	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.976;0.999	P;D	0.63488	0.867;0.915	T	0.40194	-0.9576	9	0.54805	T	0.06	.	8.3417	0.32247	0.2995:0.0:0.7005:0.0	.	119;185	Q86T64;A7KAX9	.;RHG32_HUMAN	V	185;111;119;159	ENSP00000310561:L185V;ENSP00000432468:L111V;ENSP00000432303:L159V	ENSP00000310561:L185V	L	-	1	2	ARHGAP32	128441910	1.000000	0.71417	0.926000	0.36857	0.994000	0.84299	2.020000	0.41010	0.197000	0.20387	0.563000	0.77884	CTG		0.373	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3		NM_014715		5	28	0	0	0	0.000602	0	5	28		
ADAMTS8	11095	broad.mit.edu	37	11	130275534	130275534	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:130275534G>A	ENST00000257359.6	-	9	3295	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	863	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AGGCCTGGCCGGAGGGGTCCC	0.672																																						uc001qgg.3		NaN																	0				central_nervous_system(1)	1						c.(2587-2589)TCC>TCT		ADAM metallopeptidase with thrombospondin type 1							50.0	59.0	56.0					11																	130275534		1979	4160	6139	SO:0001819	synonymous_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275534G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2589C>T	11.37:g.130275534G>A						ADAMTS8_uc001qgf.2_Silent_p.S344S	p.S863S	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	2947	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	863			TSP type-1 2.		Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.2589C>T	CCDS41732.1																																																																																				0.672	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1		NM_007037		3	68	0	0	0	0.009096	0	3	68		
SNX19	399979	broad.mit.edu	37	11	130785702	130785702	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:130785702G>C	ENST00000265909.4	-	1	702	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.L45V	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	45					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACGTTGACCAGAAGGTGTATG	0.587																																						uc001qgk.3		NaN																	0				ovary(2)|lung(2)	4						c.(133-135)CTG>GTG		sorting nexin 19							82.0	67.0	72.0					11																	130785702		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785702G>C	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.133C>G	11.37:g.130785702G>C	ENSP00000265909:p.Leu45Val					SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.L45V|SNX19_uc009zcx.1_Intron	p.L45V	NM_014758	NP_055573	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	681	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	45					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.133C>G	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076660	0.55753	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.37584	1.4;1.19	4.8	2.87	0.33458	.	0.186229	0.36002	N	0.002854	T	0.39655	0.1086	M	0.63843	1.955	0.80722	D	1	D;D	0.58268	0.982;0.982	P;P	0.48738	0.588;0.588	T	0.15896	-1.0421	10	0.42905	T	0.14	-3.1272	8.776	0.34762	0.0795:0.0:0.7701:0.1504	.	45;45	E9PKB9;Q92543	.;SNX19_HUMAN	V	45	ENSP00000265909:L45V;ENSP00000435390:L45V	ENSP00000265909:L45V	L	-	1	2	SNX19	130290912	1.000000	0.71417	0.792000	0.32020	0.644000	0.38419	6.047000	0.71038	0.569000	0.29329	0.455000	0.32223	CTG		0.587	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1		NM_014758		20	71	0	0	0	0.002299	0	20	71		
VPS26B	112936	broad.mit.edu	37	11	134113161	134113161	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:134113161G>C	ENST00000281187.5	+	4	1172	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	VPS26B_ENST00000525095.2_Missense_Mutation_p.E232Q	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	232					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		AGCCAAGTACGAGATCATGGA	0.537																																					Colon(171;1263 1952 15904 45703 47982)	uc001qhe.2		NaN																	0					0						c.(694-696)GAG>CAG		vacuolar protein sorting 26 homolog B							97.0	77.0	84.0					11																	134113161		2201	4297	6498	SO:0001583	missense	112936				protein transport|vacuolar transport	cytosol|retromer complex		g.chr11:134113161G>C		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.694G>C	11.37:g.134113161G>C	ENSP00000281187:p.Glu232Gln						p.E232Q	NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)	4	1150	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	232					Q96A55	Missense_Mutation	SNP	ENST00000281187.5	37	c.694G>C	CCDS8495.1	.	.	.	.	.	.	.	.	.	.	G	35	5.568343	0.96540	.	.	ENSG00000151502	ENST00000281187;ENST00000525095	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.89478	3.035	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.83759	0.0213	9	0.32370	T	0.25	-19.8871	18.429	0.90618	0.0:0.0:1.0:0.0	.	232	Q4G0F5	VP26B_HUMAN	Q	232;231	.	ENSP00000281187:E232Q	E	+	1	0	VPS26B	133618371	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	9.650000	0.98490	2.587000	0.87381	0.655000	0.94253	GAG		0.537	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1		NM_052875		9	22	0	0	0	0.006214	0	9	22		
ENO2	2026	broad.mit.edu	37	12	7031509	7031509	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:7031509C>G	ENST00000535366.1	+	10	1805	c.1179C>G	c.(1177-1179)atC>atG	p.I393M	ENO2_ENST00000229277.1_Missense_Mutation_p.I393M|ENO2_ENST00000545045.2_Missense_Mutation_p.I274M|ATN1_ENST00000356654.4_5'Flank|ENO2_ENST00000541477.1_Missense_Mutation_p.I393M|ENO2_ENST00000544774.1_Missense_Mutation_p.I350M|ENO2_ENST00000534977.1_3'UTR|ENO2_ENST00000538763.1_Missense_Mutation_p.I350M			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	393					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)	p.I393M(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGTTTCAGATCAAGACTGGTG	0.547																																						uc001qru.1		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(1177-1179)ATC>ATG		enolase 2							89.0	81.0	84.0					12																	7031509		2203	4300	6503	SO:0001583	missense	2026				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity	g.chr12:7031509C>G	M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.1179C>G	12.37:g.7031509C>G	ENSP00000437402:p.Ile393Met					ENO2_uc009zfi.1_Missense_Mutation_p.I393M|ENO2_uc010sfq.1_Missense_Mutation_p.I350M|ENO2_uc001qrv.1_Missense_Mutation_p.I393M|ATN1_uc001qrw.1_5'Flank	p.I393M	NM_001975	NP_001966	P09104	ENOG_HUMAN			11	1401	+			393					B7Z2X9|Q96J33	Missense_Mutation	SNP	ENST00000535366.1	37	c.1179C>G	CCDS8570.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.924070	0.52653	.	.	ENSG00000111674	ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000535366;ENST00000545045	T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21	4.2	4.2	0.49525	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82398	0.5028	H	0.97051	3.93	0.80722	D	1	P;P	0.46277	0.875;0.868	D;D	0.66716	0.943;0.946	D	0.86928	0.2071	10	0.87932	D	0	-12.9758	12.1379	0.53982	0.2159:0.7841:0.0:0.0	.	350;393	B7Z2X9;P09104	.;ENOG_HUMAN	M	393;393;350;350;393;274	ENSP00000438873:I393M;ENSP00000229277:I393M;ENSP00000441490:I350M;ENSP00000446195:I350M;ENSP00000437402:I393M;ENSP00000438062:I274M	ENSP00000229277:I393M	I	+	3	3	ENO2	6901770	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.223000	0.32527	2.351000	0.79841	0.442000	0.29010	ATC		0.547	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401786.1				38	62	0	0	0	0.013114	0	38	62		
DDX47	51202	broad.mit.edu	37	12	12978977	12978977	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:12978977C>G	ENST00000358007.3	+	10	1101	c.1079C>G	c.(1078-1080)tCc>tGc	p.S360C	DDX47_ENST00000352940.4_Missense_Mutation_p.S311C	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	360	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		GCTGGGCGCTCCGGAAAGGCT	0.393																																						uc001rav.2		NaN																	0					0						c.(1078-1080)TCC>TGC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							57.0	56.0	56.0					12																	12978977		2203	4300	6503	SO:0001583	missense	51202					nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12978977C>G	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.1079C>G	12.37:g.12978977C>G	ENSP00000350698:p.Ser360Cys					DDX47_uc001rax.2_Missense_Mutation_p.S360C|DDX47_uc001ray.2_Missense_Mutation_p.S311C	p.S360C	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	13	1677	+		Prostate(47;0.0526)	360			Helicase C-terminal.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.1079C>G	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990468	0.93106	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.46063	0.88;1.58	6.16	6.16	0.99307	Helicase, C-terminal (1);	0.176745	0.50627	D	0.000102	T	0.70369	0.3216	M	0.86953	2.85	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.63703	0.917;0.91	T	0.73347	-0.4011	10	0.87932	D	0	-15.2855	20.8598	0.99761	0.0:1.0:0.0:0.0	.	311;360	G5E955;Q9H0S4	.;DDX47_HUMAN	C	311;360	ENSP00000319578:S311C;ENSP00000350698:S360C	ENSP00000319578:S311C	S	+	2	0	DDX47	12870244	0.998000	0.40836	0.997000	0.53966	0.949000	0.60115	7.335000	0.79234	2.937000	0.99478	0.650000	0.86243	TCC		0.393	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1		NM_016355		5	47	0	0	0	0.000602	0	5	47		
DDX47	51202	broad.mit.edu	37	12	12980212	12980212	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:12980212A>T	ENST00000358007.3	+	11	1161	c.1139A>T	c.(1138-1140)cAc>cTc	p.H380L	DDX47_ENST00000352940.4_Missense_Mutation_p.H331L	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	380	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CGCATAGAACACTTAATTGGG	0.473																																						uc001rav.2		NaN																	0					0						c.(1138-1140)CAC>CTC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							144.0	142.0	143.0					12																	12980212		2203	4300	6503	SO:0001583	missense	51202					nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12980212A>T	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.1139A>T	12.37:g.12980212A>T	ENSP00000350698:p.His380Leu					DDX47_uc001rax.2_Missense_Mutation_p.H380L|DDX47_uc001ray.2_Missense_Mutation_p.H331L	p.H380L	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	14	1737	+		Prostate(47;0.0526)	380			Helicase C-terminal.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.1139A>T	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.229185	0.39399	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.39787	1.06;1.72	5.75	4.62	0.57501	Helicase, C-terminal (1);	0.254515	0.39210	N	0.001438	T	0.27933	0.0688	N	0.17474	0.49	0.53005	D	0.999966	B;B	0.25955	0.004;0.138	B;B	0.23275	0.012;0.045	T	0.07597	-1.0764	10	0.72032	D	0.01	-13.2279	11.5441	0.50683	0.9306:0.0:0.0694:0.0	.	331;380	G5E955;Q9H0S4	.;DDX47_HUMAN	L	331;380	ENSP00000319578:H331L;ENSP00000350698:H380L	ENSP00000319578:H331L	H	+	2	0	DDX47	12871479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.320000	0.59203	1.021000	0.39600	0.533000	0.62120	CAC		0.473	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1		NM_016355		35	111	0	0	0	0.003755	0	35	111		
GSG1	83445	broad.mit.edu	37	12	13243611	13243611	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:13243611C>T	ENST00000432710.2	-	2	322	c.190G>A	c.(190-192)Gag>Aag	p.E64K	GSG1_ENST00000396302.3_Missense_Mutation_p.E51K|GSG1_ENST00000337630.6_Missense_Mutation_p.E51K|GSG1_ENST00000351606.6_Missense_Mutation_p.E64K|GSG1_ENST00000457134.2_Missense_Mutation_p.E51K|GSG1_ENST00000396310.2_Missense_Mutation_p.E48K|GSG1_ENST00000324458.8_Missense_Mutation_p.E64K|GSG1_ENST00000537302.1_Missense_Mutation_p.E51K	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	51						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AGACCTTTCTCGCACAGGGGC	0.542																																						uc001rbn.2		NaN																	0					0						c.(190-192)GAG>AAG		germ cell associated 1 isoform 4							127.0	110.0	116.0					12																	13243611		2203	4300	6503	SO:0001583	missense	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13243611C>T	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000432710.2:c.190G>A	12.37:g.13243611C>T	ENSP00000405032:p.Glu64Lys					GSG1_uc001rbj.2_Missense_Mutation_p.E51K|GSG1_uc001rbk.2_Missense_Mutation_p.E51K|GSG1_uc001rbl.2_Missense_Mutation_p.E51K|GSG1_uc001rbm.2_Missense_Mutation_p.E51K|GSG1_uc001rbo.2_Missense_Mutation_p.E64K|GSG1_uc001rbp.2_Missense_Mutation_p.E64K|GSG1_uc001rbq.1_Missense_Mutation_p.E64K	p.E64K	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	2	363	-		Prostate(47;0.183)	51					Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000432710.2	37	c.190G>A	CCDS55808.1	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049599	0.19827	.	.	ENSG00000111305	ENST00000337630;ENST00000324458;ENST00000396310;ENST00000396302;ENST00000457134;ENST00000432710;ENST00000537302;ENST00000351606;ENST00000405543;ENST00000545401;ENST00000542415;ENST00000545699	T;T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.4	3.58	0.41010	.	0.419213	0.26903	N	0.021916	T	0.19327	0.0464	L	0.36672	1.1	0.25588	N	0.986724	P;B;P;B;B;P;P;B	0.49253	0.921;0.263;0.51;0.314;0.333;0.823;0.455;0.205	B;B;B;B;B;B;B;B	0.39217	0.294;0.031;0.154;0.075;0.032;0.176;0.12;0.046	T	0.14924	-1.0455	10	0.06625	T	0.88	.	12.098	0.53765	0.0:0.8595:0.0:0.1405	.	64;64;64;51;51;51;51;51	Q2KHT4-7;Q2KHT4-6;G3XAB9;Q2KHT4;Q2KHT4-5;Q2KHT4-2;F1T0A0;F1T0A1	.;.;.;GSG1_HUMAN;.;.;.;.	K	51;64;48;51;51;64;51;64;48;64;64;51	ENSP00000336816:E51K;ENSP00000320838:E64K;ENSP00000379604:E48K;ENSP00000379596:E51K;ENSP00000398384:E51K;ENSP00000405032:E64K;ENSP00000441718:E51K;ENSP00000336857:E64K;ENSP00000445884:E64K;ENSP00000439676:E64K;ENSP00000440684:E51K	ENSP00000320838:E64K	E	-	1	0	GSG1	13134878	0.996000	0.38824	0.987000	0.45799	0.828000	0.46876	0.446000	0.21694	0.659000	0.30945	0.561000	0.74099	GAG		0.542	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316546.1		NM_031289		56	95	0	0	0	0.00361	0	56	95		
PDE3A	5139	broad.mit.edu	37	12	20803462	20803462	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:20803462C>G	ENST00000359062.3	+	14	2893	c.2853C>G	c.(2851-2853)atC>atG	p.I951M	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	951	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TGGCTGATATCAATGGTCCAG	0.348																																						uc001reh.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2851-2853)ATC>ATG		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						163.0	155.0	157.0					12																	20803462		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20803462C>G		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2853C>G	12.37:g.20803462C>G	ENSP00000351957:p.Ile951Met						p.I951M	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			14	2875	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	951			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2853C>G	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165241	0.57476	.	.	ENSG00000172572	ENST00000359062	D	0.83837	-1.77	5.73	1.19	0.21007	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.105526	0.64402	D	0.000006	D	0.90844	0.7124	M	0.92923	3.36	0.45883	D	0.998739	D	0.89917	1.0	D	0.77004	0.989	D	0.87899	0.2689	10	0.87932	D	0	.	6.6256	0.22828	0.2963:0.5668:0.0:0.1369	.	951	Q14432	PDE3A_HUMAN	M	951	ENSP00000351957:I951M	ENSP00000351957:I951M	I	+	3	3	PDE3A	20694729	0.126000	0.22350	0.997000	0.53966	0.991000	0.79684	-0.490000	0.06482	-0.072000	0.12864	0.561000	0.74099	ATC		0.348	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2				32	31	0	0	0	0.003271	0	32	31		
ST8SIA1	6489	broad.mit.edu	37	12	22408294	22408294	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:22408294T>A	ENST00000396037.4	-	3	892	c.411A>T	c.(409-411)aaA>aaT	p.K137N	ST8SIA1_ENST00000539510.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	137					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CCACCGCGCATTTCTTCAATG	0.478																																						uc001rfo.3		NaN																	0				ovary(3)	3						c.(409-411)AAA>AAT		alpha-2,8-sialyltransferase 1							122.0	127.0	125.0					12																	22408294		2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22408294T>A	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.411A>T	12.37:g.22408294T>A	ENSP00000379353:p.Lys137Asn					ST8SIA1_uc009zix.2_Intron	p.K137N	NM_003034	NP_003025	Q92185	SIA8A_HUMAN			3	893	-			137			Lumenal (Potential).		A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.411A>T	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.697032	0.48202	.	.	ENSG00000111728	ENST00000396037;ENST00000540824;ENST00000541868	T;T;T	0.32023	1.47;1.47;1.47	5.81	1.75	0.24633	.	0.275088	0.46758	D	0.000275	T	0.28665	0.0710	M	0.69358	2.11	0.80722	D	1	B	0.13594	0.008	B	0.25759	0.063	T	0.05869	-1.0859	10	0.25751	T	0.34	-5.3737	7.7015	0.28625	0.0:0.1413:0.1205:0.7382	.	137	Q92185	SIA8A_HUMAN	N	137;88;114	ENSP00000379353:K137N;ENSP00000441707:K88N;ENSP00000440292:K114N	ENSP00000379353:K137N	K	-	3	2	ST8SIA1	22299561	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.384000	0.34396	0.457000	0.26962	0.528000	0.53228	AAA		0.478	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2		NM_003034		108	107	0	0	0	0.00361	0	108	107		
BCAT1	586	broad.mit.edu	37	12	25031487	25031487	+	Missense_Mutation	SNP	G	G	A	rs373461769		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:25031487G>A	ENST00000261192.7	-	5	1013	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	BCAT1_ENST00000538118.1_Missense_Mutation_p.R162C|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.R175C|BCAT1_ENST00000539780.1_Missense_Mutation_p.R126C|BCAT1_ENST00000342945.5_Missense_Mutation_p.R102C	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	163					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	AATGTAGGACGAATATACAGA	0.373																																						uc001rgd.3		NaN																	0				lung(1)|breast(1)	2						c.(487-489)CGT>TGT		branched chain aminotransferase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3858		0,0,1929	84.0	83.0	83.0		376,304,523,484,487	6.1	1.0	12		83	1,8277		0,1,4138	no	missense,missense,missense,missense,missense	BCAT1	NM_001178091.1,NM_001178092.1,NM_001178093.1,NM_001178094.1,NM_005504.6	180,180,180,180,180	0,1,6067	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	126/350,102/326,175/399,162/386,163/387	25031487	1,12135	1929	4139	6068	SO:0001583	missense	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:25031487G>A		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.487C>T	12.37:g.25031487G>A	ENSP00000261192:p.Arg163Cys					BCAT1_uc001rgc.2_Missense_Mutation_p.R162C|BCAT1_uc010six.1_Missense_Mutation_p.R175C|BCAT1_uc010siy.1_Missense_Mutation_p.R126C|BCAT1_uc001rge.3_Missense_Mutation_p.R102C	p.R163C	NM_005504	NP_005495	P54687	BCAT1_HUMAN			5	929	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		163					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	37	c.487C>T	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580726	0.65992	0.0	1.21E-4	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780;ENST00000546285	T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16	6.13	6.13	0.99165	.	0.053461	0.64402	D	0.000001	T	0.78509	0.4294	H	0.99855	4.85	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.87226	0.2257	10	0.87932	D	0	-11.1608	14.4668	0.67490	0.0:0.0:0.8528:0.1472	.	126;175;102;163;162	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	C	163;162;102;175;126;139	ENSP00000261192:R163C;ENSP00000440817:R162C;ENSP00000339805:R102C;ENSP00000443459:R175C;ENSP00000440827:R126C;ENSP00000438593:R139C	ENSP00000261192:R163C	R	-	1	0	BCAT1	24922754	1.000000	0.71417	0.999000	0.59377	0.251000	0.25915	3.553000	0.53713	2.937000	0.99478	0.650000	0.86243	CGT		0.373	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1		NM_005504		23	26	0	0	0	0.008361	0	23	26		
KMT2D	8085	broad.mit.edu	37	12	49447270	49447270	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:49447270G>A	ENST00000301067.7	-	6	827	c.828C>T	c.(826-828)tgC>tgT	p.C276C		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	276	Cys-rich.				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)										TGCAGGCTTGGCACACTTTGC	0.557																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(826-828)TGC>TGT		myeloid/lymphoid or mixed-lineage leukemia 2							27.0	27.0	27.0					12																	49447270		2020	4196	6216	SO:0001819	synonymous_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.chr12:49447270G>A	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.828C>T	12.37:g.49447270G>A		HNSCC(34;0.089)					p.C276C	NM_003482	NP_003473	O14686	MLL2_HUMAN			6	828	-			276			PHD-type 2.|PHD-type 1.|RING-type 2; degenerate.|Cys-rich.		O14687	Silent	SNP	ENST00000301067.7	37	c.828C>T	CCDS44873.1																																																																																				0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				6	16	0	0	0	0.00308	0	6	16		
BCDIN3D	144233	broad.mit.edu	37	12	50232675	50232675	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:50232675C>T	ENST00000333924.4	-	2	399	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	120	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						CATTCTTTTTCGGCTCGCTTC	0.488											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rvh.2		NaN																	0				ovary(1)	1						c.(358-360)GAA>AAA		BCDIN3 domain containing							89.0	87.0	88.0					12																	50232675		2203	4300	6503	SO:0001583	missense	144233						methyltransferase activity	g.chr12:50232675C>T		CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.358G>A	12.37:g.50232675C>T	ENSP00000335201:p.Glu120Lys		OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	LOC100286844_uc010smm.1_Intron|LOC100286844_uc001rvg.2_RNA|LOC100286844_uc010smn.1_RNA	p.E120K	NM_181708	NP_859059	Q7Z5W3	BN3D2_HUMAN			2	400	-			120			Bin3-type SAM.		A8K829	Missense_Mutation	SNP	ENST00000333924.4	37	c.358G>A	CCDS8790.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528566	0.27299	.	.	ENSG00000186666	ENST00000333924	T	0.42513	0.97	5.57	-1.01	0.10169	Bin3-type S-adenosyl-L-methionine binding domain (1);	0.533252	0.22175	N	0.063584	T	0.22551	0.0544	L	0.28458	0.855	0.21553	N	0.999642	B	0.02656	0.0	B	0.04013	0.001	T	0.15694	-1.0428	10	0.17832	T	0.49	-8.62	5.6328	0.17520	0.0:0.3384:0.3527:0.3089	.	120	Q7Z5W3	BN3D2_HUMAN	K	120	ENSP00000335201:E120K	ENSP00000335201:E120K	E	-	1	0	BCDIN3D	48518942	0.004000	0.15560	0.990000	0.47175	0.892000	0.51952	-0.085000	0.11250	-0.090000	0.12462	-0.216000	0.12614	GAA		0.488	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1		NM_181708		17	50	0	0	0	0.010504	0	17	50		
DIP2B	57609	broad.mit.edu	37	12	51117053	51117053	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51117053C>G	ENST00000301180.5	+	27	3269	c.3235C>G	c.(3235-3237)Cca>Gca	p.P1079A		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1079						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CGTCAGACCTCCACATGCTCA	0.522																																						uc001rwv.2		NaN																	0				ovary(4)|breast(1)|pancreas(1)	6						c.(3235-3237)CCA>GCA		DIP2 disco-interacting protein 2 homolog B							204.0	155.0	172.0					12																	51117053		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51117053C>G	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3235C>G	12.37:g.51117053C>G	ENSP00000301180:p.Pro1079Ala					DIP2B_uc009zlt.2_Missense_Mutation_p.P509A	p.P1079A	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			27	3391	+			1079					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.3235C>G	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763890	0.89932	.	.	ENSG00000066084	ENST00000301180	T	0.09630	2.96	4.95	4.95	0.65309	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.32675	0.0837	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01652	-1.1303	10	0.72032	D	0.01	-15.0529	18.7686	0.91882	0.0:1.0:0.0:0.0	.	1079	Q9P265	DIP2B_HUMAN	A	1079	ENSP00000301180:P1079A	ENSP00000301180:P1079A	P	+	1	0	DIP2B	49403320	1.000000	0.71417	0.996000	0.52242	0.818000	0.46254	7.651000	0.83577	2.758000	0.94735	0.563000	0.77884	CCA		0.522	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1		NM_173602		36	98	0	0	0	0.013114	0	36	98		
DIP2B	57609	broad.mit.edu	37	12	51118560	51118560	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51118560C>T	ENST00000301180.5	+	28	3325	c.3291C>T	c.(3289-3291)gtC>gtT	p.V1097V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1097						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTTTCTAGGTCAGCAAAGCAG	0.532																																						uc001rwv.2		NaN																	0				ovary(4)|breast(1)|pancreas(1)	6						c.(3289-3291)GTC>GTT		DIP2 disco-interacting protein 2 homolog B							85.0	72.0	77.0					12																	51118560		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51118560C>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3291C>T	12.37:g.51118560C>T						DIP2B_uc009zlt.2_Silent_p.V527V	p.V1097V	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			28	3447	+			1097					Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.3291C>T	CCDS31799.1																																																																																				0.532	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1		NM_173602		8	53	0	0	0	0.00245	0	8	53		
DIP2B	57609	broad.mit.edu	37	12	51121551	51121551	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51121551C>G	ENST00000301180.5	+	29	3500	c.3466C>G	c.(3466-3468)Ctt>Gtt	p.L1156V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1156						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GTTGGCATATCTTGATTTTAG	0.433																																						uc001rwv.2		NaN																	0				ovary(4)|breast(1)|pancreas(1)	6						c.(3466-3468)CTT>GTT		DIP2 disco-interacting protein 2 homolog B							203.0	197.0	199.0					12																	51121551		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51121551C>G	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3466C>G	12.37:g.51121551C>G	ENSP00000301180:p.Leu1156Val					DIP2B_uc009zlt.2_Missense_Mutation_p.L586V	p.L1156V	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			29	3622	+			1156					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.3466C>G	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727573	0.69074	.	.	ENSG00000066084	ENST00000301180	T	0.40756	1.02	4.27	4.27	0.50696	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	M	0.75777	2.31	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.69518	-0.5124	10	0.62326	D	0.03	-15.0534	18.006	0.89209	0.0:1.0:0.0:0.0	.	1156	Q9P265	DIP2B_HUMAN	V	1156	ENSP00000301180:L1156V	ENSP00000301180:L1156V	L	+	1	0	DIP2B	49407818	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.169000	0.50809	2.668000	0.90789	0.655000	0.94253	CTT		0.433	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1		NM_173602		42	114	0	0	0	0.00361	0	42	114		
METTL7A	25840	broad.mit.edu	37	12	51319290	51319290	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51319290C>T	ENST00000548553.1	+	2	1450	c.469C>T	c.(469-471)Ctc>Ttc	p.L157F	METTL7A_ENST00000332160.4_Missense_Mutation_p.L157F			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	157						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)	p.L157F(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						GGAGCGGATTCTCCGCGAGGT	0.562																																						uc001rxb.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(469-471)CTC>TTC		methyltransferase like 7A precursor							43.0	39.0	40.0					12																	51319290		2203	4300	6503	SO:0001583	missense	25840					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	g.chr12:51319290C>T		CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.469C>T	12.37:g.51319290C>T	ENSP00000448785:p.Leu157Phe					METTL7A_uc010smv.1_Intron	p.L157F	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN			1	757	+			157					Q9H7R3|Q9UHZ7|Q9Y422	Missense_Mutation	SNP	ENST00000548553.1	37	c.469C>T	CCDS8804.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295760	0.60086	.	.	ENSG00000185432	ENST00000548553;ENST00000550502;ENST00000332160	T;T;T	0.29655	1.56;3.2;1.56	5.55	4.61	0.57282	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.75777	2.31	0.80722	D	1	D	0.64830	0.994	D	0.70016	0.967	T	0.58042	-0.7706	10	0.72032	D	0.01	-11.6379	15.5611	0.76249	0.1376:0.8624:0.0:0.0	.	157	Q9H8H3	MET7A_HUMAN	F	157	ENSP00000448785:L157F;ENSP00000450239:L157F;ENSP00000331787:L157F	ENSP00000331787:L157F	L	+	1	0	METTL7A	49605557	0.772000	0.28567	0.172000	0.22920	0.067000	0.16453	1.511000	0.35801	2.785000	0.95823	0.591000	0.81541	CTC		0.562	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2		NM_014033		18	36	0	0	0	0.007413	0	18	36		
POU6F1	5463	broad.mit.edu	37	12	51585471	51585471	+	Silent	SNP	G	G	A	rs150600315	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51585471G>A	ENST00000389243.4	-	10	1407	c.468C>T	c.(466-468)atC>atT	p.I156I	POU6F1_ENST00000333640.10_Silent_p.I156I|POU6F1_ENST00000550824.1_Silent_p.I156I			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	156	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						AGAGCCGCCGGATCTTAAAGT	0.572																																						uc001rxy.2		NaN																	0				ovary(1)	1						c.(466-468)ATC>ATT		POU class 6 homeobox 1							101.0	99.0	100.0					12																	51585471		2203	4300	6503	SO:0001819	synonymous_variant	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51585471G>A	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.468C>T	12.37:g.51585471G>A						POU6F1_uc001rxz.2_Silent_p.I156I|POU6F1_uc001rya.2_Silent_p.I156I	p.I156I	NM_002702	NP_002693	Q14863	PO6F1_HUMAN			4	660	-			156			POU-specific.		Q15944|Q6DK47|Q7Z7P6	Silent	SNP	ENST00000389243.4	37	c.468C>T	CCDS31803.1																																																																																				0.572	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1		NM_002702		43	93	0	0	0	0.00361	0	43	93		
POU6F1	5463	broad.mit.edu	37	12	51585498	51585498	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51585498G>C	ENST00000389243.4	-	10	1380	c.441C>G	c.(439-441)atC>atG	p.I147M	POU6F1_ENST00000333640.10_Missense_Mutation_p.I147M|POU6F1_ENST00000550824.1_Missense_Mutation_p.I147M			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	147	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CAAACTCCCGGATCTCTTCTA	0.557																																						uc001rxy.2		NaN																	0				ovary(1)	1						c.(439-441)ATC>ATG		POU class 6 homeobox 1							117.0	115.0	115.0					12																	51585498		2203	4300	6503	SO:0001583	missense	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51585498G>C	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.441C>G	12.37:g.51585498G>C	ENSP00000373895:p.Ile147Met					POU6F1_uc001rxz.2_Missense_Mutation_p.I147M|POU6F1_uc001rya.2_Missense_Mutation_p.I147M	p.I147M	NM_002702	NP_002693	Q14863	PO6F1_HUMAN			4	633	-			147			POU-specific.		Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	ENST00000389243.4	37	c.441C>G	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303356	0.60195	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.83419	-1.72;-1.72;-1.72	5.28	2.44	0.29823	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.165203	0.53938	D	0.000056	D	0.82277	0.5002	L	0.31804	0.96	0.48395	D	0.999641	D	0.55800	0.973	D	0.77557	0.99	T	0.78597	-0.2142	10	0.59425	D	0.04	.	4.2873	0.10862	0.3249:0.0:0.5263:0.1488	.	147	Q14863	PO6F1_HUMAN	M	147	ENSP00000373895:I147M;ENSP00000330190:I147M;ENSP00000448389:I147M	ENSP00000330190:I147M	I	-	3	3	POU6F1	49871765	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.528000	0.23002	0.232000	0.21100	-0.258000	0.10820	ATC		0.557	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1		NM_002702		52	118	0	0	0	0.00361	0	52	118		
POU6F1	5463	broad.mit.edu	37	12	51586129	51586129	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51586129G>A	ENST00000389243.4	-	9	1314	c.375C>T	c.(373-375)gtC>gtT	p.V125V	POU6F1_ENST00000333640.10_Silent_p.V125V|POU6F1_ENST00000550824.1_Silent_p.V125V			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	125	Gln/Pro-rich.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CCAACTGGCTGACGGTGGGGG	0.582																																						uc001rxy.2		NaN																	0				ovary(1)	1						c.(373-375)GTC>GTT		POU class 6 homeobox 1							99.0	101.0	100.0					12																	51586129		2203	4300	6503	SO:0001819	synonymous_variant	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51586129G>A	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.375C>T	12.37:g.51586129G>A						POU6F1_uc001rxz.2_Silent_p.V125V|POU6F1_uc001rya.2_Silent_p.V125V	p.V125V	NM_002702	NP_002693	Q14863	PO6F1_HUMAN			3	567	-			125			Gln/Pro-rich.		Q15944|Q6DK47|Q7Z7P6	Silent	SNP	ENST00000389243.4	37	c.375C>T	CCDS31803.1																																																																																				0.582	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1		NM_002702		52	176	0	0	0	0.00361	0	52	176		
POU6F1	5463	broad.mit.edu	37	12	51586207	51586207	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51586207G>A	ENST00000389243.4	-	9	1236	c.297C>T	c.(295-297)gtC>gtT	p.V99V	POU6F1_ENST00000333640.10_Silent_p.V99V|POU6F1_ENST00000550824.1_Silent_p.V99V			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	99	Gln/Pro-rich.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GGCTGGCAATGACCACAGCAG	0.607																																						uc001rxy.2		NaN																	0				ovary(1)	1						c.(295-297)GTC>GTT		POU class 6 homeobox 1							92.0	90.0	91.0					12																	51586207		2203	4300	6503	SO:0001819	synonymous_variant	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51586207G>A	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.297C>T	12.37:g.51586207G>A						POU6F1_uc001rxz.2_Silent_p.V99V|POU6F1_uc001rya.2_Silent_p.V99V	p.V99V	NM_002702	NP_002693	Q14863	PO6F1_HUMAN			3	489	-			99			Gln/Pro-rich.		Q15944|Q6DK47|Q7Z7P6	Silent	SNP	ENST00000389243.4	37	c.297C>T	CCDS31803.1																																																																																				0.607	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1		NM_002702		50	147	0	0	0	0.00361	0	50	147		
KRT18	3875	broad.mit.edu	37	12	53345344	53345344	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:53345344C>A	ENST00000388835.3	+	4	947	c.737C>A	c.(736-738)gCc>gAc	p.A246D	KRT8_ENST00000546897.1_5'Flank|KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000550600.1_Missense_Mutation_p.A246D|KRT8_ENST00000549198.1_5'Flank|KRT18_ENST00000388837.2_Missense_Mutation_p.A246D	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	246	Interaction with DNAJB6.|Linker 12.|Necessary for interaction with PNN.|Rod.			A -> S (in Ref. 8; CAA31369). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CAGGACCTCGCCAAGATCATG	0.562																																						uc001sbe.2		NaN																	0				skin(1)	1						c.(736-738)GCC>GAC		keratin 18							49.0	54.0	52.0					12																	53345344		2203	4298	6501	SO:0001583	missense	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53345344C>A		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.737C>A	12.37:g.53345344C>A	ENSP00000373487:p.Ala246Asp					KRT18_uc009zmn.1_Missense_Mutation_p.A246D|KRT18_uc001sbf.1_Missense_Mutation_p.A73D|KRT18_uc001sbg.2_Missense_Mutation_p.A246D|KRT18_uc009zmo.2_Missense_Mutation_p.A246D|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	p.A246D	NM_199187	NP_954657	P05783	K1C18_HUMAN			5	806	+			246	A -> S (in Ref. 8; CAA31369).		Interaction with DNAJB6.|Linker 12.|Rod.|Necessary for interaction with PNN.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.737C>A	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	c	13.13	2.145773	0.37923	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.89196	-2.48;-2.48;-2.48	3.59	1.73	0.24493	Filament (1);	0.491505	0.19507	N	0.112617	D	0.86748	0.6007	L	0.47078	1.49	0.23150	N	0.998214	P;B	0.35745	0.518;0.391	B;P	0.45794	0.255;0.493	T	0.78718	-0.2095	10	0.59425	D	0.04	.	6.7464	0.23464	0.1097:0.1924:0.6979:0.0	.	246;246	F8VZY9;P05783	.;K1C18_HUMAN	D	246	ENSP00000373489:A246D;ENSP00000447278:A246D;ENSP00000373487:A246D	ENSP00000373487:A246D	A	+	2	0	KRT18	51631611	0.361000	0.24972	0.769000	0.31535	0.442000	0.32017	2.298000	0.43602	0.503000	0.28060	-0.479000	0.04858	GCC		0.562	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1		NM_199187		12	30	1	0	7.93312e-07	0.00245	8.15589e-07	12	30		
RARG	5916	broad.mit.edu	37	12	53607440	53607440	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:53607440C>G	ENST00000425354.2	-	8	1345	c.858G>C	c.(856-858)atG>atC	p.M286I	RARG_ENST00000338561.5_Missense_Mutation_p.M275I|RARG_ENST00000394426.1_Missense_Mutation_p.M286I|RARG_ENST00000543726.1_Missense_Mutation_p.M264I|RARG_ENST00000327550.3_Missense_Mutation_p.M214I|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	286	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CGGAGAAGGTCATGGTGTCCT	0.607											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sce.2		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(856-858)ATG>ATC		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						108.0	95.0	100.0					12																	53607440		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607440C>G	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.858G>C	12.37:g.53607440C>G	ENSP00000388510:p.Met286Ile		OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_uc001scd.2_Missense_Mutation_p.M275I|RARG_uc010sob.1_Missense_Mutation_p.M264I|RARG_uc001scf.2_Missense_Mutation_p.M286I|RARG_uc001scg.2_Missense_Mutation_p.M214I|RARG_uc010soc.1_Missense_Mutation_p.M165I|RARG_uc010sod.1_Missense_Mutation_p.M323I	p.M286I	NM_000966	NP_000957	P13631	RARG_HUMAN			8	1343	-			286			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.858G>C	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116119	0.77323	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99	4.96	4.96	0.65561	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.95526	0.8546	N	0.20986	0.625	0.80722	D	1	P;P;D;D	0.63046	0.932;0.899;0.992;0.965	P;P;D;P	0.75484	0.813;0.851;0.986;0.882	D	0.92229	0.5791	10	0.06365	T	0.9	.	17.3466	0.87311	0.0:1.0:0.0:0.0	.	323;264;286;275	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	I	286;286;48;214;275;264;323	ENSP00000388510:M286I;ENSP00000377947:M286I;ENSP00000332695:M214I;ENSP00000343698:M275I;ENSP00000444335:M264I	ENSP00000332695:M214I	M	-	3	0	RARG	51893707	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.773000	0.85462	2.466000	0.83321	0.313000	0.20887	ATG		0.607	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2		NM_000966		91	65	0	0	0	0.00361	0	91	65		
RARG	5916	broad.mit.edu	37	12	53607956	53607956	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:53607956C>G	ENST00000425354.2	-	7	1187	c.700G>C	c.(700-702)Gct>Cct	p.A234P	RARG_ENST00000338561.5_Missense_Mutation_p.A223P|RARG_ENST00000394426.1_Missense_Mutation_p.A234P|RARG_ENST00000543726.1_Missense_Mutation_p.A212P|RARG_ENST00000327550.3_Missense_Mutation_p.A162P|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	234	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CACTTGGTAGCCAGCTCACTG	0.567																																						uc001sce.2		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(700-702)GCT>CCT		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						123.0	108.0	113.0					12																	53607956		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607956C>G	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.700G>C	12.37:g.53607956C>G	ENSP00000388510:p.Ala234Pro					RARG_uc001scd.2_Missense_Mutation_p.A223P|RARG_uc010sob.1_Missense_Mutation_p.A212P|RARG_uc001scf.2_Missense_Mutation_p.A234P|RARG_uc001scg.2_Missense_Mutation_p.A162P|RARG_uc010soc.1_Missense_Mutation_p.A113P|RARG_uc010sod.1_Missense_Mutation_p.A271P	p.A234P	NM_000966	NP_000957	P13631	RARG_HUMAN			7	1185	-			234			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.700G>C	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725769	0.69074	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25	5.37	4.45	0.53987	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.049404	0.85682	D	0.000000	D	0.97841	0.9291	M	0.76328	2.33	0.45747	D	0.99864	P;D;D;B	0.76494	0.833;0.998;0.999;0.153	B;P;D;B	0.65573	0.306;0.904;0.936;0.112	D	0.98093	1.0410	10	0.66056	D	0.02	.	12.3091	0.54918	0.3072:0.6928:0.0:0.0	.	271;212;234;223	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	P	234;234;162;223;212;271	ENSP00000388510:A234P;ENSP00000377947:A234P;ENSP00000332695:A162P;ENSP00000343698:A223P;ENSP00000444335:A212P	ENSP00000332695:A162P	A	-	1	0	RARG	51894223	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	1.356000	0.34079	1.345000	0.45676	0.563000	0.77884	GCT		0.567	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2		NM_000966		41	113	0	0	0	0.010771	0	41	113		
HOXC9	3225	broad.mit.edu	37	12	54394234	54394234	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:54394234G>A	ENST00000303450.4	+	1	332	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	HOXC9_ENST00000508190.1_Missense_Mutation_p.A88T|HOXC9_ENST00000504557.1_Intron|RP11-834C11.12_ENST00000513209.1_Intron|HOXC-AS1_ENST00000512427.1_RNA|HOXC-AS1_ENST00000505700.1_RNA	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	88					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CCACCTCGGCGCCGACACGCG	0.711																																						uc001sep.2		NaN																	0				large_intestine(1)|pancreas(1)|skin(1)	3						c.(262-264)GCC>ACC		homeobox C9							19.0	20.0	20.0					12																	54394234		2198	4298	6496	SO:0001583	missense	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54394234G>A		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.262G>A	12.37:g.54394234G>A	ENSP00000302836:p.Ala88Thr					HOXC9_uc001seq.2_Missense_Mutation_p.A88T	p.A88T	NM_006897	NP_008828	P31274	HXC9_HUMAN			2	360	+			88					B2RCN7|Q9H1I0	Missense_Mutation	SNP	ENST00000303450.4	37	c.262G>A	CCDS8869.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763435	0.31228	.	.	ENSG00000180806	ENST00000508190;ENST00000303450	D;D	0.93953	-3.32;-3.32	4.04	4.04	0.47022	Hox9, N-terminal activation domain (1);	0.328967	0.27922	N	0.017310	T	0.78438	0.4283	N	0.01267	-0.92	0.39091	D	0.96109	B	0.06786	0.001	B	0.09377	0.004	T	0.74639	-0.3598	10	0.19590	T	0.45	.	9.3245	0.37984	0.1016:0.0:0.8984:0.0	.	88	P31274	HXC9_HUMAN	T	88	ENSP00000423861:A88T;ENSP00000302836:A88T	ENSP00000302836:A88T	A	+	1	0	HOXC9	52680501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.148000	0.58085	2.268000	0.75426	0.561000	0.74099	GCC		0.711	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1				33	19	0	0	0	0.007835	0	33	19		
NFE2	4778	broad.mit.edu	37	12	54686942	54686942	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:54686942G>C	ENST00000540264.2	-	2	847	c.338C>G	c.(337-339)tCa>tGa	p.S113*	NFE2_ENST00000435572.2_Nonsense_Mutation_p.S113*|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Nonsense_Mutation_p.S113*|NFE2_ENST00000312156.4_Nonsense_Mutation_p.S113*			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	113	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)	p.S113*(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GAGCAGGCCTGAGAGGCTCAG	0.592																																						uc009znk.2		NaN																	2	Substitution - Nonsense(2)		upper_aerodigestive_tract(1)|breast(1)		0						c.(337-339)TCA>TGA		nuclear factor, erythroid derived 2 isoform 1							110.0	116.0	114.0					12																	54686942		2203	4300	6503	SO:0001587	stop_gained	4778				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	g.chr12:54686942G>C	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.338C>G	12.37:g.54686942G>C	ENSP00000439120:p.Ser113*					NFE2_uc001sfq.2_Nonsense_Mutation_p.S113*|NFE2_uc001sfr.3_Nonsense_Mutation_p.S113*|NFE2_uc009znl.2_Nonsense_Mutation_p.S113*	p.S113*	NM_006163	NP_006154	Q16621	NFE2_HUMAN			2	848	-			113			Transactivation domain.		Q07720|Q6ICV9	Nonsense_Mutation	SNP	ENST00000540264.2	37	c.338C>G	CCDS8876.1	.	.	.	.	.	.	.	.	.	.	G	39	7.803338	0.98498	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070;ENST00000553198	.	.	.	5.1	5.1	0.69264	.	0.706306	0.13462	N	0.386064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.3998	11.3174	0.49401	0.0:0.0:0.8186:0.1814	.	.	.	.	X	113	.	ENSP00000312436:S113X	S	-	2	0	NFE2	52973209	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.938000	0.56583	2.824000	0.97209	0.655000	0.94253	TCA		0.592	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1		NM_006163		44	108	0	0	0	0.00361	0	44	108		
SMARCC2	6601	broad.mit.edu	37	12	56572315	56572315	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:56572315C>G	ENST00000267064.4	-	14	1269	c.1183G>C	c.(1183-1185)Gag>Cag	p.E395Q	SMARCC2_ENST00000550164.1_Missense_Mutation_p.E395Q|SMARCC2_ENST00000394023.3_Missense_Mutation_p.E395Q|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E395Q	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	395					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTCTCATCCTCATCCTACGAG	0.527																																						uc001skb.2		NaN																	0				lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(1183-1185)GAG>CAG		SWI/SNF-related matrix-associated							377.0	266.0	303.0					12																	56572315		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56572315C>G	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1183G>C	12.37:g.56572315C>G	ENSP00000267064:p.Glu395Gln					SMARCC2_uc001skd.2_Missense_Mutation_p.E395Q|SMARCC2_uc001ska.2_Missense_Mutation_p.E395Q|SMARCC2_uc001skc.2_Missense_Mutation_p.E395Q|SMARCC2_uc010sqf.1_Missense_Mutation_p.E284Q	p.E395Q	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		14	1289	-			395					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.1183G>C	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605482	0.87157	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.47869	0.83;0.84;0.83	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	L	0.50333	1.59	0.58432	D	0.999996	D;D;D;D;D	0.67145	0.993;0.996;0.993;0.993;0.996	D;D;D;D;D	0.78314	0.979;0.991;0.979;0.979;0.991	T	0.54323	-0.8311	10	0.23302	T	0.38	-22.9918	18.5087	0.90907	0.0:1.0:0.0:0.0	.	284;395;400;395;395	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	Q	395	ENSP00000449396:E395Q;ENSP00000302919:E395Q;ENSP00000267064:E395Q	ENSP00000267064:E395Q	E	-	1	0	SMARCC2	54858582	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	5.876000	0.69667	2.744000	0.94065	0.655000	0.94253	GAG		0.527	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1				77	45	0	0	0	0.00361	0	77	45		
CAND1	55832	broad.mit.edu	37	12	67700122	67700122	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:67700122C>G	ENST00000545606.1	+	10	3111	c.2674C>G	c.(2674-2676)Ctg>Gtg	p.L892V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	892					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCCTGAATATCTGCCGTTTGT	0.418																																						uc001stn.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(2674-2676)CTG>GTG		TIP120 protein							106.0	99.0	101.0					12																	67700122		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67700122C>G		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2674C>G	12.37:g.67700122C>G	ENSP00000442318:p.Leu892Val					CAND1_uc001sto.2_Missense_Mutation_p.L402V	p.L892V	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	3111	+			892			HEAT 21.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.2674C>G	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942999	0.34283	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.74002	-0.8;-0.8	5.29	3.47	0.39725	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83175	0.5197	M	0.75447	2.3	0.80722	D	1	D;D	0.76494	0.994;0.999	P;D	0.85130	0.893;0.997	T	0.81441	-0.0931	9	.	.	.	-5.3127	9.0097	0.36133	0.0:0.7741:0.0:0.2259	.	724;892	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	V	892;892;432	ENSP00000442318:L892V;ENSP00000444089:L432V	.	L	+	1	2	CAND1	65986389	1.000000	0.71417	0.982000	0.44146	0.901000	0.52897	3.341000	0.52151	0.622000	0.30249	0.491000	0.48974	CTG		0.418	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1		NM_018448		15	113	0	0	0	0.007413	0	15	113		
STAB2	55576	broad.mit.edu	37	12	104123937	104123937	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:104123937A>C	ENST00000388887.2	+	49	5330	c.5126A>C	c.(5125-5127)gAt>gCt	p.D1709A		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATATCCAGTGATATCATCAGT	0.333																																						uc001tjw.2		NaN																	0				ovary(9)|skin(5)	14						c.(5125-5127)GAT>GCT		stabilin 2 precursor							141.0	157.0	151.0					12																	104123937		2203	4299	6502	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104123937A>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5126A>C	12.37:g.104123937A>C	ENSP00000373539:p.Asp1709Ala					STAB2_uc009zug.2_RNA	p.D1709A	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			49	5312	+			1709			Extracellular (Potential).|FAS1 5.			Missense_Mutation	SNP	ENST00000388887.2	37	c.5126A>C	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383486	0.82792	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.92805	-3.11	5.71	5.71	0.89125	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	H	0.96080	3.765	0.45239	D	0.998242	D	0.60575	0.988	P	0.60473	0.875	D	0.97427	1.0013	10	0.48119	T	0.1	.	14.9582	0.71135	1.0:0.0:0.0:0.0	.	1709	Q8WWQ8	STAB2_HUMAN	A	1709;396	ENSP00000373539:D1709A	ENSP00000258495:D396A	D	+	2	0	STAB2	102648067	1.000000	0.71417	0.973000	0.42090	0.872000	0.50106	7.481000	0.81124	2.168000	0.68352	0.533000	0.62120	GAT		0.333	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1				27	42	0	0	0	0.012213	0	27	42		
COX6A1	1337	broad.mit.edu	37	12	120875952	120875952	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:120875952C>T	ENST00000229379.2	+	1	60	c.23C>T	c.(22-24)tCg>tTg	p.S8L	AL021546.6_ENST00000551806.1_5'Flank	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	8					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGTGTCCTCGGTTTCTCGG	0.637																																						uc001tyf.1		NaN																	0					0						c.(22-24)TCG>TTG		cytochrome c oxidase subunit VIa polypeptide 1							24.0	25.0	25.0					12																	120875952		2202	4299	6501	SO:0001583	missense	1337				respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity	g.chr12:120875952C>T	X15341	CCDS9197.1	12q24	2011-07-04			ENSG00000111775	ENSG00000111775	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2277	protein-coding gene	gene with protein product		602072		COX6A		9284905	Standard	NM_004373		Approved		uc001tyf.2	P12074	OTTHUMG00000047791	ENST00000229379.2:c.23C>T	12.37:g.120875952C>T	ENSP00000229379:p.Ser8Leu						p.S8L	NM_004373	NP_004364	P12074	CX6A1_HUMAN			1	49	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		8					B2R500|O43714|Q32Q37	Missense_Mutation	SNP	ENST00000229379.2	37	c.23C>T	CCDS9197.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.360419	0.24598	.	.	ENSG00000111775	ENST00000229379	.	.	.	4.75	2.8	0.32819	.	0.302673	0.35407	N	0.003238	T	0.16557	0.0398	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.16100	-1.0414	9	0.25106	T	0.35	-0.2182	8.5374	0.33371	0.0814:0.2974:0.6211:0.0	.	8	P12074	CX6A1_HUMAN	L	8	.	ENSP00000229379:S8L	S	+	2	0	COX6A1	119360335	0.012000	0.17670	0.002000	0.10522	0.000000	0.00434	0.442000	0.21628	1.364000	0.46038	-0.133000	0.14855	TCG		0.637	COX6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108984.3		NM_004373		21	6	0	0	0	0.003954	0	21	6		
HIP1R	9026	broad.mit.edu	37	12	123338615	123338615	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:123338615C>T	ENST00000253083.4	+	8	728	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	201					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		ACACGGCCATCGCCGTATCCC	0.602																																						uc001udj.1		NaN																	0				ovary(1)	1						c.(601-603)ATC>ATT		huntingtin interacting protein-1-related							150.0	137.0	141.0					12																	123338615		2203	4300	6503	SO:0001819	synonymous_variant	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123338615C>T	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.603C>T	12.37:g.123338615C>T						HIP1R_uc001udg.1_Silent_p.I189I|HIP1R_uc001udi.1_Silent_p.I201I	p.I201I	NM_003959	NP_003950	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	8	662	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		201					A6NHQ6|Q6NXG8|Q9UED9	Silent	SNP	ENST00000253083.4	37	c.603C>T	CCDS31922.1																																																																																				0.602	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1		NM_003959		88	246	0	0	0	0.00361	0	88	246		
EP400	57634	broad.mit.edu	37	12	132547196	132547196	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:132547196G>A	ENST00000333577.4	+	48	8501	c.8392G>A	c.(8392-8394)Ggc>Agc	p.G2798S	EP400_ENST00000389561.2_Missense_Mutation_p.G2762S|EP400_ENST00000330386.6_Missense_Mutation_p.G2681S|EP400_ENST00000389562.2_Missense_Mutation_p.G2761S|EP400_ENST00000332482.4_Missense_Mutation_p.G2725S			Q96L91	EP400_HUMAN	E1A binding protein p400	2798					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACAGATCCAGGGCCAGGCCCA	0.612																																						uc001ujn.2		NaN																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(8284-8286)GGC>AGC		E1A binding protein p400							88.0	71.0	77.0					12																	132547196		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547196G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8392G>A	12.37:g.132547196G>A	ENSP00000333602:p.Gly2798Ser					EP400_uc001ujl.2_Missense_Mutation_p.G2761S|EP400_uc001ujm.2_Missense_Mutation_p.G2681S|EP400_uc001ujp.2_5'UTR	p.G2762S	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	46	8319	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2798					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.8284G>A		.	.	.	.	.	.	.	.	.	.	G	12.78	2.039749	0.35989	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.59;-2.6	4.89	2.02	0.26589	.	0.645460	0.14529	N	0.313979	D	0.86389	0.5921	N	0.24115	0.695	0.23559	N	0.997418	P;P;B	0.45348	0.856;0.856;0.019	P;P;B	0.55112	0.769;0.626;0.019	T	0.76094	-0.3085	10	0.31617	T	0.26	.	9.5696	0.39420	0.2345:0.0:0.7655:0.0	.	2762;2681;2761	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	S	2798;2762;2761;2725;2681;2762	ENSP00000333602:G2798S;ENSP00000374212:G2762S;ENSP00000374213:G2761S;ENSP00000331737:G2725S;ENSP00000330620:G2681S	ENSP00000330620:G2681S	G	+	1	0	EP400	131113149	1.000000	0.71417	0.995000	0.50966	0.452000	0.32318	2.275000	0.43399	0.111000	0.17947	0.561000	0.74099	GGC		0.612	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		51	48	0	0	0	0.00361	0	51	48		
ZDHHC20	253832	broad.mit.edu	37	13	21955650	21955650	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:21955650C>T	ENST00000400590.3	-	11	1181	c.983G>A	c.(982-984)aGt>aAt	p.S328N	ZDHHC20_ENST00000415724.1_Missense_Mutation_p.S328N|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.S265N|ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000320220.9_3'UTR|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.S327N			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	328					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		TTTTGATTCACTAAGTGGTTT	0.378																																						uc001uob.2		NaN																	0				ovary(1)	1						c.(979-981)AGT>AAT		zinc finger, DHHC-type containing 20							80.0	74.0	76.0					13																	21955650		1856	4104	5960	SO:0001583	missense	253832					integral to membrane	acyltransferase activity|zinc ion binding	g.chr13:21955650C>T	AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"""Zinc fingers, DHHC-type"""	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.983G>A	13.37:g.21955650C>T	ENSP00000383433:p.Ser328Asn					ZDHHC20_uc001uod.2_RNA|ZDHHC20_uc001uoc.2_RNA|ZDHHC20_uc001uoe.2_RNA|ZDHHC20_uc010tcs.1_Missense_Mutation_p.S265N	p.S327N	NM_153251	NP_694983	Q5W0Z9	ZDH20_HUMAN		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)	11	1093	-		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)	328					A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	Missense_Mutation	SNP	ENST00000400590.3	37	c.980G>A		.	.	.	.	.	.	.	.	.	.	C	15.68	2.903960	0.52333	.	.	ENSG00000180776	ENST00000400590;ENST00000382466;ENST00000542645;ENST00000415724	T;T;T;T	0.52983	0.87;0.89;0.64;0.87	5.65	5.65	0.86999	.	0.448900	0.29034	N	0.013344	T	0.44456	0.1294	L	0.43152	1.355	0.80722	D	1	B;B	0.23490	0.04;0.086	B;B	0.27796	0.032;0.083	T	0.27571	-1.0070	10	0.15499	T	0.54	-10.4148	20.0887	0.97806	0.0:1.0:0.0:0.0	.	265;327	B4DRN8;Q5W0Z9-3	.;.	N	328;327;265;328	ENSP00000383433:S328N;ENSP00000371905:S327N;ENSP00000443236:S265N;ENSP00000401232:S328N	ENSP00000371905:S327N	S	-	2	0	ZDHHC20	20853650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.545000	0.67237	2.825000	0.97269	0.655000	0.94253	AGT		0.378	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045994.1		NM_153251		35	14	0	0	0	0.009718	0	35	14		
ATP12A	479	broad.mit.edu	37	13	25274960	25274960	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:25274960C>T	ENST00000381946.3	+	13	1948	c.1781C>T	c.(1780-1782)cCg>cTg	p.P594L	ATP12A_ENST00000218548.6_Missense_Mutation_p.P600L|RNY1P7_ENST00000384743.1_RNA			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	594					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		ATGAACTTTCCGACCTCCAAC	0.488																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(1780-1782)CCG>CTG		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						157.0	141.0	146.0					13																	25274960		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25274960C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1781C>T	13.37:g.25274960C>T	ENSP00000371372:p.Pro594Leu					ATP12A_uc010aaa.2_Missense_Mutation_p.P600L	p.P594L	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	13	1968	+		Lung SC(185;0.0225)|Breast(139;0.077)	594			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1781C>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313568	0.60414	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.78481	-1.18;-1.18	6.17	5.33	0.75918	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.85185	0.1006	10	0.87932	D	0	.	13.3443	0.60564	0.0:0.9246:0.0:0.0754	.	600;594	P54707-2;P54707	.;AT12A_HUMAN	L	600;594	ENSP00000218548:P600L;ENSP00000371372:P594L	ENSP00000218548:P600L	P	+	2	0	ATP12A	24172960	0.973000	0.33851	0.896000	0.35187	0.068000	0.16541	2.436000	0.44819	1.636000	0.50526	-0.136000	0.14681	CCG		0.488	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1		NM_001676		61	28	0	0	0	0.00361	0	61	28		
PABPC3	5042	broad.mit.edu	37	13	25671754	25671754	+	Missense_Mutation	SNP	C	C	T	rs190621317		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:25671754C>T	ENST00000281589.3	+	1	1455	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	473					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTCATGTCAACGCAGCGTGTT	0.542													c|||	1	0.000199681	0.0	0.0014	5008	,	,		22621	0.0		0.0	False		,,,				2504	0.0					uc001upy.2		NaN																	0				ovary(3)|skin(1)	4						c.(1417-1419)ACG>ATG		poly(A) binding protein, cytoplasmic 3							98.0	89.0	92.0					13																	25671754		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671754C>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1418C>T	13.37:g.25671754C>T	ENSP00000281589:p.Thr473Met						p.T473M	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1479	+		Lung SC(185;0.0225)|Breast(139;0.0602)	473					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1418C>T	CCDS9311.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.711	1.156962	0.21454	.	.	ENSG00000151846	ENST00000281589	T	0.28069	1.63	0.875	0.875	0.19130	.	0.266391	0.25189	U	0.032472	T	0.24967	0.0606	L	0.56769	1.78	0.34482	D	0.703995	B	0.20887	0.049	B	0.17433	0.018	T	0.20107	-1.0285	10	0.30854	T	0.27	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	473	Q9H361	PABP3_HUMAN	M	473	ENSP00000281589:T473M	ENSP00000281589:T473M	T	+	2	0	PABPC3	24569754	0.995000	0.38212	0.937000	0.37676	0.091000	0.18340	4.772000	0.62324	0.759000	0.33084	0.313000	0.20887	ACG		0.542	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2		NM_030979		20	88	0	0	0	0.00278	0	20	88		
RNF6	6049	broad.mit.edu	37	13	26788716	26788716	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:26788716C>T	ENST00000381588.4	-	5	2055	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.E435K|RNF6_ENST00000346166.3_Missense_Mutation_p.E435K|RNF6_ENST00000399762.2_Missense_Mutation_p.E79K	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	435					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTATTGCTTTCAATAGTGACT	0.438																																						uc001uqo.2		NaN																	0				ovary(1)|skin(1)	2						c.(1303-1305)GAA>AAA		ring finger protein 6							106.0	107.0	107.0					13																	26788716		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26788716C>T	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1303G>A	13.37:g.26788716C>T	ENSP00000371000:p.Glu435Lys					RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.E435K|RNF6_uc001uqp.2_Missense_Mutation_p.E435K|RNF6_uc001uqq.2_Missense_Mutation_p.E435K|RNF6_uc010tdk.1_Missense_Mutation_p.E79K	p.E435K	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	1594	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	435					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.1303G>A	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838806	0.51057	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	T;T;T;T	0.20598	2.61;2.61;2.61;2.06	4.49	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	L	0.47716	1.5	0.58432	D	0.999999	P;P	0.49783	0.928;0.841	P;P	0.54100	0.742;0.564	T	0.08932	-1.0698	10	0.72032	D	0.01	-12.6022	14.4703	0.67512	0.0:0.8518:0.1482:0.0	.	79;435	B4DDP0;Q9Y252	.;RNF6_HUMAN	K	435;435;435;79	ENSP00000342121:E435K;ENSP00000371000:E435K;ENSP00000370982:E435K;ENSP00000382665:E79K	ENSP00000342121:E435K	E	-	1	0	RNF6	25686716	1.000000	0.71417	0.711000	0.30485	0.970000	0.65996	5.523000	0.67099	1.067000	0.40740	0.455000	0.32223	GAA		0.438	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2		NM_005977		39	126	0	0	0	0.00361	0	39	126		
BRCA2	675	broad.mit.edu	37	13	32911868	32911868	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:32911868G>C	ENST00000380152.3	+	11	3609	c.3376G>C	c.(3376-3378)Gaa>Caa	p.E1126Q	BRCA2_ENST00000544455.1_Missense_Mutation_p.E1126Q			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1126					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGTCAGTTTGAATTTACTCA	0.343			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(3376-3378)GAA>CAA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							50.0	52.0	51.0					13																	32911868		2202	4297	6499	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32911868G>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3376G>C	13.37:g.32911868G>C	ENSP00000369497:p.Glu1126Gln	TCGA Ovarian(8;0.087)					p.E1126Q	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	3603	+		Lung SC(185;0.0262)	1126					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.3376G>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230489	0.79688	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.01647	4.71;4.71	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000002	T	0.12092	0.0294	M	0.78049	2.395	0.44085	D	0.996848	D	0.89917	1.0	D	0.77004	0.989	T	0.00055	-1.2178	10	0.72032	D	0.01	.	19.9522	0.97203	0.0:0.0:1.0:0.0	.	1126	P51587	BRCA2_HUMAN	Q	1126	ENSP00000369497:E1126Q;ENSP00000439902:E1126Q	ENSP00000369497:E1126Q	E	+	1	0	BRCA2	31809868	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.568000	0.82369	2.725000	0.93324	0.655000	0.94253	GAA		0.343	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		15	28	0	0	0	0.003163	0	15	28		
BRCA2	675	broad.mit.edu	37	13	32912648	32912648	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:32912648G>T	ENST00000380152.3	+	11	4389	c.4156G>T	c.(4156-4158)Gat>Tat	p.D1386Y	BRCA2_ENST00000544455.1_Missense_Mutation_p.D1386Y			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1386	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGATTTGTCAGATTTAACTTT	0.338			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(4156-4158)GAT>TAT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							71.0	75.0	73.0					13																	32912648		2203	4298	6501	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32912648G>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4156G>T	13.37:g.32912648G>T	ENSP00000369497:p.Asp1386Tyr	TCGA Ovarian(8;0.087)					p.D1386Y	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	4383	+		Lung SC(185;0.0262)	1386					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.4156G>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666730	0.47677	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.01051	5.4;5.4	5.95	5.95	0.96441	.	0.081433	0.52532	D	0.000068	T	0.04272	0.0118	M	0.76002	2.32	0.38967	D	0.958671	D	0.67145	0.996	P	0.53401	0.725	T	0.48758	-0.9007	10	0.37606	T	0.19	.	15.0036	0.71495	0.0:0.0:0.8583:0.1417	.	1386	P51587	BRCA2_HUMAN	Y	1386	ENSP00000369497:D1386Y;ENSP00000439902:D1386Y	ENSP00000369497:D1386Y	D	+	1	0	BRCA2	31810648	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	4.372000	0.59530	2.817000	0.96982	0.563000	0.77884	GAT		0.338	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		10	36	1	0	0.00136819	0.001368	0.00139357	10	36		
BRCA2	675	broad.mit.edu	37	13	32913201	32913201	+	Missense_Mutation	SNP	G	G	C	rs80359464|rs397507339|rs397507338		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:32913201G>C	ENST00000380152.3	+	11	4942	c.4709G>C	c.(4708-4710)aGa>aCa	p.R1570T	BRCA2_ENST00000544455.1_Missense_Mutation_p.R1570T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1570	Interaction with POLH.|Required for stimulation of POLH DNA polymerization activity.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTAAAGTACAGAGAGGCCTGT	0.383			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(4708-4710)AGA>ACA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							79.0	82.0	81.0					13																	32913201		2203	4300	6503	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32913201G>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4709G>C	13.37:g.32913201G>C	ENSP00000369497:p.Arg1570Thr	TCGA Ovarian(8;0.087)					p.R1570T	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	4936	+		Lung SC(185;0.0262)	1570					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.4709G>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	7.072	0.568467	0.13560	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.01145	5.27;5.27	5.6	-0.556	0.11803	.	0.692183	0.14686	N	0.304442	T	0.01222	0.0040	L	0.59436	1.845	0.09310	N	1	B	0.26195	0.144	B	0.18263	0.021	T	0.46048	-0.9219	10	0.54805	T	0.06	.	1.6204	0.02712	0.1923:0.1087:0.3637:0.3353	.	1570	P51587	BRCA2_HUMAN	T	1570	ENSP00000369497:R1570T;ENSP00000439902:R1570T	ENSP00000369497:R1570T	R	+	2	0	BRCA2	31811201	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-0.716000	0.04991	-0.503000	0.06586	0.655000	0.94253	AGA		0.383	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		16	86	0	0	0	0.008871	0	16	86		
BRCA2	675	broad.mit.edu	37	13	32914175	32914175	+	Missense_Mutation	SNP	G	G	A	rs146351301		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:32914175G>A	ENST00000380152.3	+	11	5916	c.5683G>A	c.(5683-5685)Gag>Aag	p.E1895K	BRCA2_ENST00000544455.1_Missense_Mutation_p.E1895K			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1895					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGGTTGTTACGAGGCATTGGA	0.338			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18304	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64	GRCh37	CM057867	BRCA2	M	rs146351301	c.(5683-5685)GAG>AAG	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							41.0	40.0	41.0					13																	32914175		2203	4299	6502	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914175G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5683G>A	13.37:g.32914175G>A	ENSP00000369497:p.Glu1895Lys	TCGA Ovarian(8;0.087)					p.E1895K	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	5910	+		Lung SC(185;0.0262)	1895					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.5683G>A	CCDS9344.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.005	-2.141592	0.00332	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.64991	-0.13;-0.13	5.41	-4.58	0.03410	.	0.945440	0.08898	N	0.877694	T	0.13713	0.0332	N	0.00092	-2.175	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.33137	-0.9880	10	0.02654	T	1	.	4.4277	0.11511	0.4066:0.1017:0.3927:0.0989	.	1895	P51587	BRCA2_HUMAN	K	1895	ENSP00000369497:E1895K;ENSP00000439902:E1895K	ENSP00000369497:E1895K	E	+	1	0	BRCA2	31812175	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.723000	0.04952	-0.933000	0.03737	-0.300000	0.09419	GAG		0.338	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		10	48	0	0	0	0.008291	0	10	48		
BRCA2	675	broad.mit.edu	37	13	32914223	32914223	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:32914223G>A	ENST00000380152.3	+	11	5964	c.5731G>A	c.(5731-5733)Gat>Aat	p.D1911N	BRCA2_ENST00000544455.1_Missense_Mutation_p.D1911N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1911					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCTAGATAATGATGAATGTAG	0.338			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(5731-5733)GAT>AAT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							58.0	56.0	57.0					13																	32914223		2203	4300	6503	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914223G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5731G>A	13.37:g.32914223G>A	ENSP00000369497:p.Asp1911Asn	TCGA Ovarian(8;0.087)					p.D1911N	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	5958	+		Lung SC(185;0.0262)	1911					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.5731G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	3.058	-0.193824	0.06259	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.69175	-0.38;-0.38	4.92	-3.58	0.04597	.	1.070870	0.07150	N	0.848968	T	0.47544	0.1451	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27020	-1.0086	10	0.18276	T	0.48	.	7.0907	0.25282	0.5862:0.0:0.2939:0.1198	.	1911	P51587	BRCA2_HUMAN	N	1911	ENSP00000369497:D1911N;ENSP00000439902:D1911N	ENSP00000369497:D1911N	D	+	1	0	BRCA2	31812223	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.226000	0.17776	-0.394000	0.07727	-0.142000	0.14014	GAT		0.338	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		11	38	0	0	0	0.001368	0	11	38		
SCEL	8796	broad.mit.edu	37	13	78163292	78163292	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:78163292C>T	ENST00000349847.3	+	10	643	c.559C>T	c.(559-561)Cac>Tac	p.H187Y	SCEL_ENST00000377246.3_Missense_Mutation_p.H187Y|SCEL_ENST00000535157.1_Missense_Mutation_p.H165Y	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	187					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACCAGGTGTTCACCCTCCAAT	0.393																																						uc001vki.2		NaN																	0				ovary(4)|breast(1)	5						c.(559-561)CAC>TAC		sciellin isoform 1							140.0	139.0	139.0					13																	78163292		2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78163292C>T	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.559C>T	13.37:g.78163292C>T	ENSP00000302579:p.His187Tyr					SCEL_uc001vkj.2_Missense_Mutation_p.H187Y|SCEL_uc010thx.1_Missense_Mutation_p.H165Y	p.H187Y	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	10	729	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	187					B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.559C>T	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423485	0.62733	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.27720	1.65;1.65;1.65	5.55	3.71	0.42584	.	0.291939	0.25566	N	0.029785	T	0.43656	0.1257	M	0.64997	1.995	0.25271	N	0.989519	D;D;D	0.64830	0.992;0.986;0.994	P;P;P	0.61003	0.843;0.669;0.882	T	0.22626	-1.0211	10	0.56958	D	0.05	-10.2084	6.9074	0.24317	0.0:0.7306:0.1766:0.0928	.	165;187;187	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	Y	164;165;187;187	ENSP00000437895:H165Y;ENSP00000366454:H187Y;ENSP00000302579:H187Y	ENSP00000315127:H164Y	H	+	1	0	SCEL	77061293	0.972000	0.33761	0.934000	0.37439	0.991000	0.79684	1.358000	0.34102	1.342000	0.45619	0.591000	0.81541	CAC		0.393	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2		NM_144777		14	70	0	0	0	0.006122	0	14	70		
SCEL	8796	broad.mit.edu	37	13	78163298	78163298	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:78163298C>T	ENST00000349847.3	+	10	649	c.565C>T	c.(565-567)Cca>Tca	p.P189S	SCEL_ENST00000377246.3_Missense_Mutation_p.P189S|SCEL_ENST00000535157.1_Missense_Mutation_p.P167S	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	189					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TGTTCACCCTCCAATACCTCC	0.393																																						uc001vki.2		NaN																	0				ovary(4)|breast(1)	5						c.(565-567)CCA>TCA		sciellin isoform 1							141.0	141.0	141.0					13																	78163298		2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78163298C>T	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.565C>T	13.37:g.78163298C>T	ENSP00000302579:p.Pro189Ser					SCEL_uc001vkj.2_Missense_Mutation_p.P189S|SCEL_uc010thx.1_Missense_Mutation_p.P167S	p.P189S	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	10	735	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	189					B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.565C>T	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588978	0.46110	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.27402	1.67;1.67;1.67	5.66	4.81	0.61882	.	0.134289	0.34777	N	0.003700	T	0.29093	0.0723	L	0.41824	1.3	0.29723	N	0.838515	P;B;P	0.42908	0.75;0.437;0.793	B;B;B	0.43916	0.357;0.146;0.436	T	0.17531	-1.0366	10	0.49607	T	0.09	-9.8298	10.8962	0.47023	0.0:0.9117:0.0:0.0883	.	167;189;189	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	S	166;167;189;189	ENSP00000437895:P167S;ENSP00000366454:P189S;ENSP00000302579:P189S	ENSP00000315127:P166S	P	+	1	0	SCEL	77061299	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.158000	0.42329	2.677000	0.91161	0.591000	0.81541	CCA		0.393	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2		NM_144777		15	75	0	0	0	0.008871	0	15	75		
DZIP1	22873	broad.mit.edu	37	13	96238358	96238358	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:96238358C>T	ENST00000376829.2	-	21	3102	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K	DZIP1_ENST00000347108.3_Missense_Mutation_p.E751K|DZIP1_ENST00000361396.2_Missense_Mutation_p.E732K|DZIP1_ENST00000361156.3_Missense_Mutation_p.E732K	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	751					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AACATCTTTTCAACTTTTTCA	0.308																																						uc001vmk.2		NaN																	0				ovary(2)	2						c.(2251-2253)GAA>AAA		DAZ interacting protein 1 isoform 2							134.0	127.0	129.0					13																	96238358		2202	4300	6502	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96238358C>T	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2251G>A	13.37:g.96238358C>T	ENSP00000366025:p.Glu751Lys					DZIP1_uc001vmi.2_5'UTR|DZIP1_uc001vmj.2_Missense_Mutation_p.E227K|DZIP1_uc001vml.2_Missense_Mutation_p.E732K|DZIP1_uc001vmm.2_5'Flank	p.E751K	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		21	3103	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		751					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.2251G>A	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915537	0.73098	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.67	4.81	0.61882	.	0.170858	0.50627	D	0.000101	T	0.58963	0.2159	M	0.74258	2.255	0.38094	D	0.937048	D;D	0.76494	0.998;0.999	D;P	0.68483	0.958;0.908	T	0.67413	-0.5677	10	0.66056	D	0.02	-16.9837	14.3073	0.66393	0.1486:0.8514:0.0:0.0	.	732;751	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	K	751;732;732;751	ENSP00000257312:E751K;ENSP00000355018:E732K;ENSP00000355175:E732K;ENSP00000366025:E751K	ENSP00000257312:E751K	E	-	1	0	DZIP1	95036359	1.000000	0.71417	0.993000	0.49108	0.582000	0.36321	4.506000	0.60428	1.377000	0.46286	0.655000	0.94253	GAA		0.308	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3		NM_014934		10	26	0	0	0	0.008291	0	10	26		
NALCN	259232	broad.mit.edu	37	13	101735186	101735186	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:101735186C>G	ENST00000251127.6	-	33	3820	c.3739G>C	c.(3739-3741)Gtt>Ctt	p.V1247L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1247					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGGTGAAAACAACTGACATT	0.493																																						uc001vox.1		NaN																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(3739-3741)GTT>CTT		voltage gated channel like 1							132.0	121.0	125.0					13																	101735186		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101735186C>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3739G>C	13.37:g.101735186C>G	ENSP00000251127:p.Val1247Leu						p.V1247L	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			33	3928	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1247			Helical; Name=S2 of repeat IV; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3739G>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170402	0.57584	.	.	ENSG00000102452	ENST00000251127	D	0.98732	-5.1	5.64	5.64	0.86602	Ion transport (1);	0.059391	0.64402	N	0.000002	D	0.96664	0.8911	L	0.33245	0.995	0.80722	D	1	B	0.15141	0.012	B	0.20184	0.028	D	0.94350	0.7578	10	0.21014	T	0.42	.	19.699	0.96045	0.0:1.0:0.0:0.0	.	1247	Q8IZF0	NALCN_HUMAN	L	1247	ENSP00000251127:V1247L	ENSP00000251127:V1247L	V	-	1	0	NALCN	100533187	1.000000	0.71417	0.521000	0.27850	0.988000	0.76386	7.441000	0.80485	2.645000	0.89757	0.650000	0.86243	GTT		0.493	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2		NM_052867		26	106	0	0	0	0.00632	0	26	106		
TPP2	7174	broad.mit.edu	37	13	103275268	103275268	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:103275268C>T	ENST00000376065.4	+	6	698	c.662C>T	c.(661-663)tCt>tTt	p.S221F	TPP2_ENST00000376052.3_Missense_Mutation_p.S221F	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	221	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGAGTAAATCTACCGTGTTG	0.343																																						uc001vpi.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(661-663)TCT>TTT		tripeptidyl peptidase II							134.0	136.0	135.0					13																	103275268		2203	4300	6503	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103275268C>T	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.662C>T	13.37:g.103275268C>T	ENSP00000365233:p.Ser221Phe						p.S221F	NM_003291	NP_003282	P29144	TPP2_HUMAN			6	765	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		221					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.662C>T	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.500957	0.64298	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.98	4.2	0.49525	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.255560	0.46145	D	0.000304	T	0.18383	0.0441	N	0.00841	-1.15	0.30967	N	0.722955	P	0.42941	0.794	P	0.45377	0.478	T	0.29852	-0.9998	9	0.62326	D	0.03	.	15.0198	0.71621	0.0:0.4604:0.5396:0.0	.	221	P29144	TPP2_HUMAN	F	221	.	ENSP00000365220:S221F	S	+	2	0	TPP2	102073269	1.000000	0.71417	0.052000	0.19188	0.815000	0.46073	3.734000	0.55037	1.516000	0.48900	0.585000	0.79938	TCT		0.343	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2				23	109	0	0	0	0.003954	0	23	109		
CARS2	79587	broad.mit.edu	37	13	111340160	111340160	+	Missense_Mutation	SNP	G	G	A	rs143602497		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:111340160G>A	ENST00000257347.4	-	5	542	c.479C>T	c.(478-480)aCg>aTg	p.T160M	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	160					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CAGGTACACCGTGGGTGGGAG	0.507																																						uc001vrd.2		NaN																	0					0						c.(478-480)ACG>ATG		cysteinyl-tRNA synthetase 2, mitochondrial	L-Cysteine(DB00151)	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	137.0	137.0	137.0		479	4.7	0.1	13	dbSNP_134	137	0,8600		0,0,4300	no	missense	CARS2	NM_024537.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	160/565	111340160	1,13005	2203	4300	6503	SO:0001583	missense	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111340160G>A	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.479C>T	13.37:g.111340160G>A	ENSP00000257347:p.Thr160Met					CARS2_uc010tjm.1_RNA	p.T160M	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		5	519	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		160					Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	c.479C>T	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	G	7.477	0.647864	0.14516	2.27E-4	0.0	ENSG00000134905	ENST00000257347;ENST00000542709	T	0.33654	1.4	4.71	4.71	0.59529	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.060281	0.64402	D	0.000003	T	0.57198	0.2037	M	0.85542	2.76	0.37857	D	0.929586	P	0.48503	0.911	P	0.52514	0.701	T	0.70000	-0.4992	10	0.66056	D	0.02	-23.8463	16.8035	0.85620	0.0:0.0:1.0:0.0	.	160	Q9HA77	SYCM_HUMAN	M	160;151	ENSP00000257347:T160M	ENSP00000257347:T160M	T	-	2	0	CARS2	110138161	0.998000	0.40836	0.081000	0.20488	0.014000	0.08584	3.681000	0.54648	2.303000	0.77524	0.557000	0.71058	ACG		0.507	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3		NM_024537		47	131	0	0	0	0.00361	0	47	131		
PROZ	8858	broad.mit.edu	37	13	113814360	113814360	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:113814360C>T	ENST00000375547.2	+	2	110	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	PROZ_ENST00000342783.4_Silent_p.L57L	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	35					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AAACGACGTTCTGGTGAGGTG	0.517																																						uc001vta.1		NaN																	0					0						c.(103-105)CTG>TTG		protein Z, vitamin K-dependent plasma	Menadione(DB00170)						146.0	168.0	160.0					13																	113814360		2203	4300	6503	SO:0001819	synonymous_variant	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113814360C>T	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.103C>T	13.37:g.113814360C>T						PROZ_uc010agr.1_Silent_p.L57L	p.L35L	NM_003891	NP_003882	P22891	PROZ_HUMAN	all cancers(43;0.104)		2	110	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	35					A6NMB4|Q15213|Q5JVF5|Q5JVF6	Silent	SNP	ENST00000375547.2	37	c.103C>T	CCDS9531.1																																																																																				0.517	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1		NM_003891		72	233	0	0	0	0.00361	0	72	233		
TMEM255B	348013	broad.mit.edu	37	13	114503880	114503880	+	Silent	SNP	C	C	T	rs66696122		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:114503880C>T	ENST00000375353.3	+	6	531	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	168						integral component of membrane (GO:0016021)											TCTATGCCTGCGGGAGGTGAG	0.647																																						uc001vuh.2		NaN																	0					0						c.(502-504)TGC>TGT		family with sequence similarity 70, member B							71.0	49.0	57.0					13																	114503880		2203	4300	6503	SO:0001819	synonymous_variant	348013					integral to membrane		g.chr13:114503880C>T	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.504C>T	13.37:g.114503880C>T							p.C168C	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	all cancers(43;0.181)		6	531	+	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	168						Silent	SNP	ENST00000375353.3	37	c.504C>T	CCDS45071.1																																																																																				0.647	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4		NM_182614		20	12	0	0	0	0.004289	0	20	12		
PSME1	5720	broad.mit.edu	37	14	24606976	24606976	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:24606976G>A	ENST00000206451.6	+	6	465	c.360G>A	c.(358-360)gaG>gaA	p.E120E	PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000382708.3_Silent_p.E120E|PSME1_ENST00000561435.1_Silent_p.E120E|EMC9_ENST00000558200.1_5'Flank|RP11-468E2.5_ENST00000558478.1_lincRNA	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	120					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		TGAAGCCTGAGATCAAGGATG	0.512																																						uc001wmg.2		NaN																	0				ovary(1)	1						c.(358-360)GAG>GAA		proteasome activator subunit 1 isoform 1							132.0	122.0	125.0					14																	24606976		2203	4300	6503	SO:0001819	synonymous_variant	5720				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex		g.chr14:24606976G>A		CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"""Proteasome (prosome, macropain) subunits"""	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.360G>A	14.37:g.24606976G>A						PSME1_uc001wmh.2_Silent_p.E120E	p.E120E	NM_006263	NP_006254	Q06323	PSME1_HUMAN		GBM - Glioblastoma multiforme(265;0.00831)	6	454	+			120					A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Silent	SNP	ENST00000206451.6	37	c.360G>A	CCDS9612.1																																																																																				0.512	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2		NM_006263		29	48	0	0	0	0.007835	0	29	48		
TGM1	7051	broad.mit.edu	37	14	24727513	24727513	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:24727513G>A	ENST00000206765.6	-	9	1503	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A	TGM1_ENST00000544573.1_Silent_p.A18A	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	460					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTTGGGGTGTGGCATCCACCA	0.592																																						uc001wod.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1378-1380)GCC>GCT		transglutaminase 1	L-Glutamine(DB00130)						44.0	42.0	43.0					14																	24727513		2203	4300	6503	SO:0001819	synonymous_variant	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24727513G>A	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1380C>T	14.37:g.24727513G>A						TGM1_uc010tog.1_Silent_p.A18A	p.A460A	NM_000359	NP_000350	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	9	1504	-			460					B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	37	c.1380C>T	CCDS9622.1																																																																																				0.592	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6		NM_000359		21	29	0	0	0	0.003954	0	21	29		
NUBPL	80224	broad.mit.edu	37	14	32068580	32068580	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:32068580C>T	ENST00000281081.7	+	4	422	c.377C>T	c.(376-378)tCa>tTa	p.S126L	NUBPL_ENST00000536705.1_Missense_Mutation_p.S30L	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	126					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		CCGGAATTATCACAGAGTAAG	0.323																																						uc001wrk.3		NaN																	0					0						c.(376-378)TCA>TTA		nucleotide binding protein-like							77.0	71.0	73.0					14																	32068580		1822	4073	5895	SO:0001583	missense	80224				mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding	g.chr14:32068580C>T	AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"""Mitochondrial respiratory chain complex assembly factors"""	20278	protein-coding gene	gene with protein product	"""iron-sulfur protein required for NADH dehydrogenase"""	613621	"""chromosome 14 open reading frame 127"""	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.377C>T	14.37:g.32068580C>T	ENSP00000281081:p.Ser126Leu					NUBPL_uc010amj.2_RNA|NUBPL_uc010tpl.1_Missense_Mutation_p.S30L	p.S126L	NM_025152	NP_079428	Q8TB37	NUBPL_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)	4	432	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		126					B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	ENST00000281081.7	37	c.377C>T	CCDS41940.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384996	0.61956	.	.	ENSG00000151413	ENST00000281081;ENST00000551314;ENST00000536705	T;T;T	0.45668	1.04;0.89;1.04	5.4	5.4	0.78164	.	0.336300	0.30979	N	0.008495	T	0.26195	0.0639	N	0.11341	0.13	0.45747	D	0.998647	B;P	0.37141	0.015;0.584	B;B	0.33568	0.043;0.166	T	0.09818	-1.0657	10	0.36615	T	0.2	3.5875	16.946	0.86230	0.0:1.0:0.0:0.0	.	30;126	B4DWB0;Q8TB37	.;NUBPL_HUMAN	L	126;74;30	ENSP00000281081:S126L;ENSP00000447234:S74L;ENSP00000439286:S30L	ENSP00000281081:S126L	S	+	2	0	NUBPL	31138331	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.526000	0.67116	2.553000	0.86117	0.491000	0.48974	TCA		0.323	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409519.1		NM_025152		17	26	0	0	0	0.004007	0	17	26		
ARHGAP5	394	broad.mit.edu	37	14	32560834	32560834	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:32560834C>G	ENST00000345122.3	+	2	1274	c.959C>G	c.(958-960)tCa>tGa	p.S320*	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.S320*|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.S320*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.S320*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	320	FF 1.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AATACATTCTCAAAACATATA	0.299																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(958-960)TCA>TGA		Rho GTPase activating protein 5 isoform b							68.0	75.0	72.0					14																	32560834		2195	4286	6481	SO:0001587	stop_gained	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560834C>G	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.959C>G	14.37:g.32560834C>G	ENSP00000371897:p.Ser320*					ARHGAP5_uc001wrm.2_Nonsense_Mutation_p.S320*|ARHGAP5_uc001wrn.2_Nonsense_Mutation_p.S320*|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.S320*	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	1198	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		320			FF 1.		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	ENST00000345122.3	37	c.959C>G	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901190	0.92035	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	.	.	.	5.64	5.64	0.86602	.	0.066777	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	19.7009	0.96052	0.0:1.0:0.0:0.0	.	.	.	.	X	320	.	ENSP00000371897:S320X	S	+	2	0	ARHGAP5	31630585	1.000000	0.71417	0.998000	0.56505	0.628000	0.37860	5.920000	0.70017	2.646000	0.89796	0.563000	0.77884	TCA		0.299	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1		NM_001030055		15	19	0	0	0	0.007413	0	15	19		
CFL2	1073	broad.mit.edu	37	14	35182587	35182587	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:35182587C>G	ENST00000341223.3	-	2	335	c.184G>C	c.(184-186)Gat>Cat	p.D62H	CFL2_ENST00000556161.1_Missense_Mutation_p.D45H|CFL2_ENST00000555765.1_Missense_Mutation_p.D45H|CFL2_ENST00000298159.6_Missense_Mutation_p.D62H	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	62	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of actin filament depolymerization (GO:0030836)|regulation of dendritic spine morphogenesis (GO:0061001)|sarcomere organization (GO:0045214)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|nucleus (GO:0005634)				breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		TCTACAGTATCACCAATGTCA	0.398																																						uc001wsg.3		NaN																	0				breast(2)	2						c.(184-186)GAT>CAT		cofilin 2							144.0	134.0	137.0					14																	35182587		2203	4300	6503	SO:0001583	missense	1073					cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr14:35182587C>G	AF087867	CCDS9649.1, CCDS9650.1, CCDS58311.1	14q13.2	2014-09-17			ENSG00000165410	ENSG00000165410			1875	protein-coding gene	gene with protein product	"""nemaline myopathy type 7"""	601443				8800436	Standard	NM_138638		Approved	NEM7	uc001wsh.3	Q9Y281	OTTHUMG00000029536	ENST00000341223.3:c.184G>C	14.37:g.35182587C>G	ENSP00000340635:p.Asp62His					CFL2_uc010tpn.1_Missense_Mutation_p.D45H|CFL2_uc001wsh.3_Missense_Mutation_p.D62H|CFL2_uc001wsi.3_Intron|CFL2_uc001wsj.3_Intron	p.D62H	NM_021914	NP_068733	Q9Y281	COF2_HUMAN	LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)	2	325	-	Breast(36;0.0361)|Hepatocellular(127;0.158)		62			ADF-H.		G3V5P4	Missense_Mutation	SNP	ENST00000341223.3	37	c.184G>C	CCDS9650.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970706	0.34754	.	.	ENSG00000165410	ENST00000341223;ENST00000298159;ENST00000555765;ENST00000556161	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	6.17	5.29	0.74685	Actin-binding, cofilin/tropomyosin type (3);	0.190315	0.56097	D	0.000035	T	0.81432	0.4821	M	0.64170	1.965	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.77368	-0.2614	10	0.45353	T	0.12	-0.2836	15.4435	0.75208	0.0:0.9342:0.0:0.0658	.	62	Q9Y281	COF2_HUMAN	H	62;62;45;45	ENSP00000340635:D62H;ENSP00000298159:D62H;ENSP00000452451:D45H;ENSP00000452188:D45H	ENSP00000298159:D62H	D	-	1	0	CFL2	34252338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.027000	0.70881	1.633000	0.50488	0.655000	0.94253	GAT		0.398	CFL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276639.1		NM_138638		20	28	0	0	0	0.003954	0	20	28		
MIS18BP1	55320	broad.mit.edu	37	14	45693269	45693269	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:45693269C>T	ENST00000310806.4	-	11	2979	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	841					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGAAGAGTTTCTTTGACGGAA	0.358																																						uc001wwf.2		NaN																	0					0						c.(2521-2523)GAA>AAA		chromosome 14 open reading frame 106							116.0	110.0	112.0					14																	45693269		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693269C>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2521G>A	14.37:g.45693269C>T	ENSP00000309790:p.Glu841Lys						p.E841K	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN			11	2980	-			841					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.2521G>A	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	C	1.052	-0.675588	0.03378	.	.	ENSG00000129534	ENST00000310806	T	0.16597	2.33	5.72	0.0843	0.14436	.	0.909800	0.09498	N	0.794003	T	0.11153	0.0272	L	0.42245	1.32	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.39742	-0.9599	10	0.21540	T	0.41	-0.5769	0.7799	0.01039	0.1663:0.3755:0.1614:0.2968	.	841	Q6P0N0	M18BP_HUMAN	K	841	ENSP00000309790:E841K	ENSP00000309790:E841K	E	-	1	0	MIS18BP1	44763019	0.000000	0.05858	0.033000	0.17914	0.072000	0.16883	0.347000	0.20014	0.335000	0.23614	0.655000	0.94253	GAA		0.358	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2				5	12	0	0	0	0.001168	0	5	12		
L2HGDH	79944	broad.mit.edu	37	14	50735964	50735964	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:50735964C>G	ENST00000267436.4	-	7	1220	c.823G>C	c.(823-825)Gat>Cat	p.D275H	L2HGDH_ENST00000421284.3_Missense_Mutation_p.D275H|L2HGDH_ENST00000261699.4_Missense_Mutation_p.D275H			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	275					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					ATTCGAGGATCAGGAGTGCAG	0.408																																						uc001wxu.2		NaN																	0				ovary(2)	2						c.(823-825)GAT>CAT		L-2-hydroxyglutarate dehydrogenase precursor							124.0	120.0	122.0					14																	50735964		2203	4300	6503	SO:0001583	missense	79944				2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity	g.chr14:50735964C>G		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.823G>C	14.37:g.50735964C>G	ENSP00000267436:p.Asp275His					L2HGDH_uc010tqn.1_Missense_Mutation_p.D275H|L2HGDH_uc010tqo.1_Missense_Mutation_p.D275H	p.D275H	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN			7	902	-	all_epithelial(31;0.000599)|Breast(41;0.0102)		275					Q9BRR1	Missense_Mutation	SNP	ENST00000267436.4	37	c.823G>C	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332749	0.60853	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284	D;D;D	0.85411	-1.98;-1.98;-1.98	5.57	1.59	0.23543	FAD dependent oxidoreductase (1);	0.093369	0.64402	D	0.000001	D	0.83367	0.5239	L	0.51853	1.615	0.80722	D	1	P;P	0.48834	0.916;0.544	P;P	0.51055	0.657;0.537	T	0.79750	-0.1672	10	0.62326	D	0.03	-19.3675	7.106	0.25364	0.0:0.6669:0.1229:0.2102	.	275;275	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	H	275	ENSP00000261699:D275H;ENSP00000267436:D275H;ENSP00000405559:D275H	ENSP00000261699:D275H	D	-	1	0	L2HGDH	49805714	1.000000	0.71417	0.680000	0.29994	0.689000	0.40095	3.834000	0.55798	0.084000	0.17077	-0.148000	0.13756	GAT		0.408	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2		NM_024884		52	72	0	0	0	0.00361	0	52	72		
NID2	22795	broad.mit.edu	37	14	52477650	52477650	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:52477650G>A	ENST00000216286.5	-	18	3665	c.3666C>T	c.(3664-3666)gtC>gtT	p.V1222V	NID2_ENST00000541773.1_Silent_p.V1121V	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1222					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGTAGAAGAGGACCTTGCGCT	0.532																																						uc001wzo.2		NaN																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(3664-3666)GTC>GTT		nidogen 2 precursor							132.0	122.0	125.0					14																	52477650		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52477650G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3666C>T	14.37:g.52477650G>A						NID2_uc010tqs.1_Silent_p.V1174V|NID2_uc010tqt.1_Silent_p.V1222V	p.V1222V	NM_007361	NP_031387	Q14112	NID2_HUMAN			18	3900	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1222			LDL-receptor class B 2.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.3666C>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	9.557	1.117337	0.20795	.	.	ENSG00000087303	ENST00000556572	.	.	.	6.04	-0.0252	0.13936	.	.	.	.	.	T	0.53417	0.1795	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43861	-0.9365	4	.	.	.	.	7.1811	0.25774	0.5255:0.1275:0.3471:0.0	.	.	.	.	S	491	.	.	P	-	1	0	NID2	51547400	0.580000	0.26733	0.852000	0.33557	0.958000	0.62258	0.003000	0.13083	0.063000	0.16370	0.561000	0.74099	CCT		0.532	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1				32	53	0	0	0	0.002836	0	32	53		
PCNXL4	64430	broad.mit.edu	37	14	60585115	60585115	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:60585115G>C	ENST00000406854.1	+	7	2201	c.1647G>C	c.(1645-1647)ttG>ttC	p.L549F	PCNXL4_ENST00000535349.1_5'Flank|PCNXL4_ENST00000317623.4_Missense_Mutation_p.L315F|PCNXL4_ENST00000406949.1_Missense_Mutation_p.L315F|PCNXL4_ENST00000404681.2_Missense_Mutation_p.L549F			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	549						integral component of membrane (GO:0016021)											CTGTGCTTTTGACATCATGGA	0.338																																						uc001xer.3		NaN																	0				ovary(2)	2						c.(943-945)TTG>TTC		hepatitis C virus F protein-binding protein 2							84.0	82.0	83.0					14																	60585115		2118	4256	6374	SO:0001583	missense	64430					integral to membrane		g.chr14:60585115G>C	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1647G>C	14.37:g.60585115G>C	ENSP00000384801:p.Leu549Phe					C14orf135_uc001xeq.2_Missense_Mutation_p.L315F|C14orf135_uc010apm.2_RNA	p.L315F	NM_022495	NP_071940	Q63HM2	CN135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.127)	6	1467	+		Myeloproliferative disorder(585;0.163)	549			Helical; (Potential).		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.945G>C		.	.	.	.	.	.	.	.	.	.	G	16.70	3.195840	0.58126	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.25250	1.82;1.82;1.81;1.82	6.07	2.27	0.28462	.	.	.	.	.	T	0.31231	0.0790	M	0.70595	2.14	0.80722	D	1	P;B	0.46706	0.883;0.034	P;B	0.47402	0.546;0.016	T	0.02813	-1.1107	9	0.33940	T	0.23	.	7.476	0.27376	0.1877:0.0:0.6933:0.119	.	549;315	Q63HM2;B5MC47	CN135_HUMAN;.	F	315;549;315;549	ENSP00000317396:L315F;ENSP00000384801:L549F;ENSP00000385201:L315F;ENSP00000385713:L549F	ENSP00000317396:L315F	L	+	3	2	C14orf135	59654868	1.000000	0.71417	0.114000	0.21550	0.737000	0.42083	1.851000	0.39338	0.160000	0.19432	-0.145000	0.13849	TTG		0.338	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1		NM_022495		5	9	0	0	0	0.000602	0	5	9		
SYNE2	23224	broad.mit.edu	37	14	64545285	64545285	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:64545285G>C	ENST00000344113.4	+	55	11336	c.11124G>C	c.(11122-11124)caG>caC	p.Q3708H	SYNE2_ENST00000358025.3_Missense_Mutation_p.Q3708H|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q342H|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q3741H|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q70H|SYNE2_ENST00000357395.3_Missense_Mutation_p.Q70H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3708					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTTGCAGCAGAAAAGCAAAA	0.358																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(11122-11124)CAG>CAC		spectrin repeat containing, nuclear envelope 2							83.0	82.0	82.0					14																	64545285		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64545285G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.11124G>C	14.37:g.64545285G>C	ENSP00000341781:p.Gln3708His					SYNE2_uc001xgl.2_Missense_Mutation_p.Q3708H|SYNE2_uc010apy.2_Missense_Mutation_p.Q70H|SYNE2_uc010apw.1_Missense_Mutation_p.Q414H|SYNE2_uc010apx.1_Missense_Mutation_p.Q100H	p.Q3708H	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	55	11354	+			3708			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.11124G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176241	0.57692	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.61510	0.49;3.83;0.5;0.1;3.84;3.83	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000019	T	0.77671	0.4165	M	0.74881	2.28	0.46874	D	0.999233	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.997;0.992;0.996	T	0.78448	-0.2200	10	0.62326	D	0.03	.	19.7987	0.96497	0.0:0.0:1.0:0.0	.	70;3742;3708;3708	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	H	3708;70;3708;3741;3741;342;70	ENSP00000350719:Q3708H;ENSP00000349969:Q70H;ENSP00000341781:Q3708H;ENSP00000452570:Q3741H;ENSP00000450831:Q342H;ENSP00000378249:Q70H	ENSP00000261678:Q3741H	Q	+	3	2	SYNE2	63615038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.164000	0.58190	2.687000	0.91594	0.563000	0.77884	CAG		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		8	12	0	0	0	0.00308	0	8	12		
SYNE2	23224	broad.mit.edu	37	14	64680977	64680977	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:64680977G>C	ENST00000344113.4	+	106	19334	c.19122G>C	c.(19120-19122)caG>caC	p.Q6374H	SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q6374H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q3008H|SYNE2_ENST00000458046.2_Missense_Mutation_p.Q8H|SYNE2_ENST00000554805.1_Missense_Mutation_p.Q157H|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q6316H|SYNE2_ENST00000555022.1_Missense_Mutation_p.Q252H|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q2759H|SYNE2_ENST00000357395.3_Missense_Mutation_p.Q2759H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6374					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGAAATCCAGACTGATTCTT	0.512																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(19120-19122)CAG>CAC		spectrin repeat containing, nuclear envelope 2							128.0	130.0	129.0					14																	64680977		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64680977G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19122G>C	14.37:g.64680977G>C	ENSP00000341781:p.Gln6374His					SYNE2_uc001xgl.2_Missense_Mutation_p.Q6374H|SYNE2_uc010apy.2_Missense_Mutation_p.Q2759H|SYNE2_uc001xgn.2_Missense_Mutation_p.Q1336H|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.Q344H|SYNE2_uc001xgq.2_Missense_Mutation_p.Q739H|SYNE2_uc001xgr.2_Missense_Mutation_p.Q157H|SYNE2_uc010tsi.1_Missense_Mutation_p.Q8H|SYNE2_uc001xgs.2_Missense_Mutation_p.Q8H|SYNE2_uc001xgt.2_5'Flank	p.Q6374H	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	106	19352	+			6374			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.19122G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	2.073	-0.412468	0.04799	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046	T;T;T;T;T;T;T;T;T	0.57752	0.71;4.02;0.71;0.38;4.06;4.02;3.7;3.2;2.85	5.27	-1.57	0.08506	.	0.568694	0.14695	N	0.303912	T	0.42988	0.1227	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B;P;B	0.40660	0.079;0.04;0.13;0.001;0.028;0.726;0.065	B;B;B;B;B;P;B	0.45913	0.022;0.034;0.081;0.005;0.017;0.497;0.042	T	0.36720	-0.9736	10	0.66056	D	0.02	.	2.5321	0.04705	0.2635:0.3265:0.307:0.1031	.	8;2759;8;762;6316;6374;6374	B4DND7;Q8WXH0-7;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	H	6374;2759;6374;6316;6322;3008;2759;252;157;8	ENSP00000350719:Q6374H;ENSP00000349969:Q2759H;ENSP00000341781:Q6374H;ENSP00000452570:Q6316H;ENSP00000450831:Q3008H;ENSP00000378249:Q2759H;ENSP00000451009:Q252H;ENSP00000450605:Q157H;ENSP00000391937:Q8H	ENSP00000261678:Q6322H	Q	+	3	2	SYNE2	63750730	0.002000	0.14202	0.001000	0.08648	0.090000	0.18270	0.382000	0.20635	-0.143000	0.11334	-0.140000	0.14226	CAG		0.512	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		43	56	0	0	0	0.00361	0	43	56		
IRF2BPL	64207	broad.mit.edu	37	14	77492329	77492329	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:77492329G>A	ENST00000238647.3	-	1	2705	c.1807C>T	c.(1807-1809)Ctg>Ttg	p.L603L		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	603	Pro-rich.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TGGGGTCCCAGAGGTgggggc	0.716																																						uc001xsy.2		NaN																	0					0						c.(1807-1809)CTG>TTG		chromosome 14 open reading frame 4							4.0	5.0	4.0					14																	77492329		1881	3810	5691	SO:0001819	synonymous_variant	64207					nucleus		g.chr14:77492329G>A	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1807C>T	14.37:g.77492329G>A							p.L603L	NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)	1	2706	-			603			Pro-rich.		Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	c.1807C>T	CCDS9854.1																																																																																				0.716	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1		NM_024496		3	4	0	0	0	0.009096	0	3	4		
CIPC	85457	broad.mit.edu	37	14	77580381	77580381	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:77580381C>T	ENST00000361786.2	+	4	1237	c.920C>T	c.(919-921)tCa>tTa	p.S307L	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		307					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GATATCTTTTCAGAGCAGCGG	0.478																																						uc001xtd.2		NaN																	0					0						c.(919-921)TCA>TTA		KIAA1737 protein							74.0	75.0	74.0					14																	77580381		2203	4300	6503	SO:0001583	missense	85457							g.chr14:77580381C>T																												ENST00000361786.2:c.920C>T	14.37:g.77580381C>T	ENSP00000355319:p.Ser307Leu					KIAA1737_uc001xtc.1_Missense_Mutation_p.S209L	p.S307L	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)	4	1099	+			307					B2RCI1|Q8N389|Q8NDZ1	Missense_Mutation	SNP	ENST00000361786.2	37	c.920C>T	CCDS9855.1	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104697	0.20632	.	.	ENSG00000198894	ENST00000361786	T	0.31247	1.5	5.65	4.76	0.60689	.	1.379120	0.04055	N	0.305408	T	0.18002	0.0432	N	0.03154	-0.405	0.49299	D	0.999777	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.05683	-1.0870	10	0.27082	T	0.32	-2.4995	10.964	0.47401	0.0:0.8554:0.0:0.1446	.	307;209	Q9C0C6;B3KU75	K1737_HUMAN;.	L	307	ENSP00000355319:S307L	ENSP00000355319:S307L	S	+	2	0	KIAA1737	76650134	0.001000	0.12720	0.007000	0.13788	0.986000	0.74619	1.415000	0.34748	2.675000	0.91044	0.555000	0.69702	TCA		0.478	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1				19	36	0	0	0	0.010504	0	19	36		
ADCK1	57143	broad.mit.edu	37	14	78397944	78397944	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:78397944C>G	ENST00000238561.5	+	10	1389	c.1290C>G	c.(1288-1290)ctC>ctG	p.L430L	ADCK1_ENST00000341211.5_Silent_p.L362L|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	437	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		AGATGCTGCTCATCTTGAAGA	0.602																																						uc001xui.2		NaN																	0				stomach(2)|ovary(1)	3						c.(1288-1290)CTC>CTG		aarF domain containing kinase 1 isoform a							88.0	68.0	75.0					14																	78397944		2203	4300	6503	SO:0001819	synonymous_variant	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78397944C>G	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1290C>G	14.37:g.78397944C>G						ADCK1_uc001xuj.2_Silent_p.L362L|ADCK1_uc001xul.2_Silent_p.L137L	p.L430L	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	10	1389	+			437			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Silent	SNP	ENST00000238561.5	37	c.1290C>G	CCDS9869.1																																																																																				0.602	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1		NM_020421		25	43	0	0	0	0.003954	0	25	43		
AKT1	207	broad.mit.edu	37	14	105242100	105242100	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:105242100G>A	ENST00000554581.1	-	4	1804	c.324C>T	c.(322-324)gaC>gaT	p.D108D	AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000407796.2_Silent_p.D108D|AKT1_ENST00000554848.1_Silent_p.D108D|AKT1_ENST00000555528.1_Silent_p.D108D|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000349310.3_Silent_p.D108D|AKT1_ENST00000544168.1_Silent_p.D46D|AKT1_ENST00000402615.2_Silent_p.D108D|AKT1_ENST00000554192.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	108	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TCTTGAGGCCGTCAGCCACAG	0.617		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	uc001ypk.2		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			breast|colorectal|ovarian|NSCLC		0				breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134						c.(322-324)GAC>GAT		AKT1 kinase	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						118.0	78.0	92.0					14																	105242100		2203	4300	6503	SO:0001819	synonymous_variant	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105242100G>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.324C>T	14.37:g.105242100G>A						INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Silent_p.D108D|AKT1_uc010axa.2_Silent_p.D108D|AKT1_uc001ypm.2_Silent_p.D108D|AKT1_uc001ypn.2_Silent_p.D108D|AKT1_uc010tyk.1_Silent_p.D46D	p.D108D	NM_005163	NP_005154	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	5	878	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	108			PH.		B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	ENST00000554581.1	37	c.324C>T	CCDS9994.1																																																																																				0.617	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1		NM_005163		21	7	0	0	0	0.007291	0	21	7		
AHNAK2	113146	broad.mit.edu	37	14	105419487	105419487	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:105419487C>T	ENST00000333244.5	-	7	2420	c.2301G>A	c.(2299-2301)aaG>aaA	p.K767K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	767						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTTGGGCATCTTCAAACTGG	0.617																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(2299-2301)AAG>AAA		AHNAK nucleoprotein 2							114.0	126.0	122.0					14																	105419487		1872	4097	5969	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105419487C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2301G>A	14.37:g.105419487C>T						AHNAK2_uc001ypx.2_Silent_p.K667K	p.K767K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2421	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	767					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2301G>A	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		46	25	0	0	0	0.00361	0	46	25		
UBE3A	7337	broad.mit.edu	37	15	25615955	25615955	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:25615955C>G	ENST00000397954.2	-	4	1374	c.1375G>C	c.(1375-1377)Gaa>Caa	p.E459Q	UBE3A_ENST00000438097.1_Missense_Mutation_p.E436Q|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.E436Q|UBE3A_ENST00000428984.2_Missense_Mutation_p.E436Q|UBE3A_ENST00000232165.3_Missense_Mutation_p.E456Q			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	459	Interaction with HCV core protein.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTATCCATTTCTAGAACCTCA	0.353																																						uc001zaq.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(1375-1377)GAA>CAA		ubiquitin protein ligase E3A isoform 2							30.0	31.0	31.0					15																	25615955		2201	4295	6496	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25615955C>G	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1375G>C	15.37:g.25615955C>G	ENSP00000381045:p.Glu459Gln					uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.E436Q|UBE3A_uc001zas.2_Missense_Mutation_p.E456Q|UBE3A_uc001zat.2_Missense_Mutation_p.E436Q	p.E459Q	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	4	1375	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	459			Interaction with HCV core protein.		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.1375G>C	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343864	0.61073	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.46	5.46	0.80206	.	0.264527	0.44097	D	0.000489	D	0.83229	0.5209	L	0.46157	1.445	0.80722	D	1	D;D	0.61697	0.98;0.99	P;P	0.61722	0.838;0.893	T	0.79985	-0.1572	10	0.27785	T	0.31	.	19.311	0.94187	0.0:1.0:0.0:0.0	.	456;459	Q05086-3;Q05086	.;UBE3A_HUMAN	Q	456;456;459;436;436	ENSP00000232165:E456Q;ENSP00000381045:E459Q;ENSP00000411258:E436Q;ENSP00000401265:E436Q	ENSP00000232165:E456Q	E	-	1	0	UBE3A	23167048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.578000	0.87016	0.467000	0.42956	GAA		0.353	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1		NM_000462		5	17	0	0	0	0.000602	0	5	17		
KLF13	51621	broad.mit.edu	37	15	31619856	31619856	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:31619856C>G	ENST00000307145.3	+	1	799	c.441C>G	c.(439-441)ctC>ctG	p.L147L		NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	147					negative regulation of cell proliferation (GO:0008285)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		AGCCCGGCCTCAGACAAAGGG	0.751																																						uc001zfo.2		NaN																	0					0						c.(439-441)CTC>CTG		Kruppel-like factor 13							5.0	6.0	5.0					15																	31619856		1825	3948	5773	SO:0001819	synonymous_variant	51621				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr15:31619856C>G	AF132599	CCDS10025.1	15q13.3	2013-01-08			ENSG00000169926	ENSG00000169926		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	13672	protein-coding gene	gene with protein product		605328				10415854, 10023774	Standard	NM_015995		Approved	RFLAT-1, BTEB3, NSLP1, FKLF-2	uc001zfo.3	Q9Y2Y9	OTTHUMG00000172224	ENST00000307145.3:c.441C>G	15.37:g.31619856C>G							p.L147L	NM_015995	NP_057079	Q9Y2Y9	KLF13_HUMAN		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)	1	774	+		all_lung(180;3.71e-11)	147					Q9Y356	Silent	SNP	ENST00000307145.3	37	c.441C>G	CCDS10025.1																																																																																				0.751	KLF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251381.1		NM_015995		4	6	0	0	0	0.000602	0	4	6		
RYR3	6263	broad.mit.edu	37	15	34130198	34130198	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:34130198C>A	ENST00000389232.4	+	89	12087	c.12017C>A	c.(12016-12018)cCa>cAa	p.P4006Q	RYR3_ENST00000415757.3_Missense_Mutation_p.P4001Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4006					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAACACATGCCAAACGATTCC	0.463																																						uc001zhi.2		NaN																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(12016-12018)CCA>CAA		ryanodine receptor 3							121.0	121.0	121.0					15																	34130198		1956	4147	6103	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130198C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12017C>A	15.37:g.34130198C>A	ENSP00000373884:p.Pro4006Gln					RYR3_uc010bar.2_Missense_Mutation_p.P4001Q	p.P4006Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12087	+		all_lung(180;7.18e-09)	4006					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.12017C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871616	0.72065	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.99656	-6.31	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.98440	1.0586	10	0.87932	D	0	.	19.0504	0.93041	0.0:1.0:0.0:0.0	.	4001;4006	Q15413-2;Q15413	.;RYR3_HUMAN	Q	4006;4002	ENSP00000373884:P4006Q	ENSP00000354735:P4002Q	P	+	2	0	RYR3	31917490	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	7.554000	0.82212	2.737000	0.93849	0.551000	0.68910	CCA		0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				78	114	1	0	2.46799e-47	0.00361	2.70616e-47	78	114		
INO80	54617	broad.mit.edu	37	15	41339643	41339643	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:41339643C>G	ENST00000361937.3	-	23	3122	c.2698G>C	c.(2698-2700)Gaa>Caa	p.E900Q	INO80_ENST00000401393.3_Missense_Mutation_p.E900Q			Q9ULG1	INO80_HUMAN	INO80 complex subunit	900	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTTGCCATTTCTGCTGGAGAT	0.373																																						uc001zni.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2698-2700)GAA>CAA		INO80 complex homolog 1							67.0	68.0	68.0					15																	41339643		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41339643C>G	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2698G>C	15.37:g.41339643C>G	ENSP00000355205:p.Glu900Gln					INO80_uc010ucu.1_RNA	p.E900Q	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			23	2911	-			900			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.2698G>C	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774315	0.90108	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.93712	-3.27;-3.27	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.96426	0.8834	M	0.76170	2.325	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	D	0.95558	0.8627	10	0.44086	T	0.13	.	19.1067	0.93299	0.0:1.0:0.0:0.0	.	900	Q9ULG1	INO80_HUMAN	Q	900	ENSP00000355205:E900Q;ENSP00000384686:E900Q	ENSP00000355205:E900Q	E	-	1	0	INO80	39126935	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.674000	0.74487	2.826000	0.97356	0.491000	0.48974	GAA		0.373	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2		NM_017553		26	21	0	0	0	0.003755	0	26	21		
RPAP1	26015	broad.mit.edu	37	15	41816160	41816160	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:41816160C>T	ENST00000304330.4	-	17	2361	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K	RPAP1_ENST00000561603.1_Missense_Mutation_p.E749K	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	749						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGCTGGCCTCAGCAGAATCA	0.587																																						uc001zod.2		NaN																	0				large_intestine(1)	1						c.(2245-2247)GAG>AAG		RNA polymerase II associated protein 1							31.0	31.0	31.0					15																	41816160		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41816160C>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2245G>A	15.37:g.41816160C>T	ENSP00000306123:p.Glu749Lys					RPAP1_uc001zoc.2_5'UTR	p.E749K	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	17	2369	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	749					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.2245G>A	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036529	0.75617	.	.	ENSG00000103932	ENST00000304330	T	0.13420	2.59	4.47	3.55	0.40652	.	0.298098	0.33127	N	0.005255	T	0.18425	0.0442	M	0.62723	1.935	0.09310	N	1	P	0.37688	0.605	B	0.42245	0.381	T	0.08452	-1.0721	10	0.87932	D	0	-1.0727	9.2053	0.37285	0.0:0.8986:0.0:0.1014	.	749	Q9BWH6	RPAP1_HUMAN	K	749	ENSP00000306123:E749K	ENSP00000306123:E749K	E	-	1	0	RPAP1	39603452	0.621000	0.27077	0.010000	0.14722	0.258000	0.26162	1.887000	0.39698	1.095000	0.41419	0.563000	0.77884	GAG		0.587	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2		NM_015540		8	14	0	0	0	0.00308	0	8	14		
PLA2G4B	100137049	broad.mit.edu	37	15	42132996	42132996	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:42132996G>C	ENST00000452633.1	+	5	596	c.244G>C	c.(244-246)Gac>Cac	p.D82H	PLA2G4B_ENST00000458483.1_Missense_Mutation_p.D82H|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.D313H|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.D313H|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.D313H			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	82	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GAAAGTCTTTGACCAGGACCT	0.597																																						uc010bco.2		NaN																	0				large_intestine(1)	1						c.(244-246)GAC>CAC		phospholipase A2, group IVB							104.0	96.0	98.0					15																	42132996		2203	4300	6503	SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42132996G>C	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.244G>C	15.37:g.42132996G>C	ENSP00000396045:p.Asp82His					JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.D313H|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.D313H|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank	p.D82H	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN			4	345	+			82			C2.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.244G>C	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	24.4	4.521847	0.85600	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.04	5.04	0.67666	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	T	0.51109	0.1655	M	0.89785	3.06	0.49051	D	0.999745	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.982;0.999	T	0.60347	-0.7281	10	0.87932	D	0	-12.4328	17.6965	0.88282	0.0:0.0:1.0:0.0	.	82;313;313	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	H	313;313;82;82	ENSP00000371886:D313H;ENSP00000342785:D313H;ENSP00000416610:D82H;ENSP00000396045:D82H	ENSP00000342785:D313H	D	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39920288	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.881000	0.63114	2.793000	0.96121	0.655000	0.94253	GAC		0.597	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1		NM_001114633		26	93	0	0	0	0.005443	0	26	93		
USP8	9101	broad.mit.edu	37	15	50757369	50757369	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:50757369G>A	ENST00000396444.3	+	7	1005	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	USP8_ENST00000425032.3_Missense_Mutation_p.E146K|RNA5SP395_ENST00000516567.1_RNA|USP8_ENST00000307179.4_Missense_Mutation_p.E223K|USP8_ENST00000433963.1_Missense_Mutation_p.E223K	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	223	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CAGTGTTCCTGAAGAAGCCAT	0.378																																						uc001zym.3		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(667-669)GAA>AAA		ubiquitin specific peptidase 8							91.0	82.0	85.0					15																	50757369		2196	4292	6488	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50757369G>A	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.667G>A	15.37:g.50757369G>A	ENSP00000379721:p.Glu223Lys					USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Missense_Mutation_p.E223K|USP8_uc001zyn.3_Missense_Mutation_p.E223K|USP8_uc010ufh.1_Missense_Mutation_p.E146K|USP8_uc010bev.1_Intron	p.E223K	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	8	1167	+			223			Rhodanese.		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.667G>A	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953515	0.92660	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.06	5.06	0.68205	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.61689	0.2367	M	0.66939	2.045	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.995	T	0.56577	-0.7956	10	0.16896	T	0.51	-22.8908	18.4381	0.90653	0.0:0.0:1.0:0.0	.	146;223	B4DKA8;P40818	.;UBP8_HUMAN	K	223;223;223;146	ENSP00000379721:E223K;ENSP00000405537:E223K;ENSP00000302239:E223K;ENSP00000412682:E146K	ENSP00000302239:E223K	E	+	1	0	USP8	48544661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.729000	0.91490	2.333000	0.79357	0.650000	0.86243	GAA		0.378	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1		NM_005154		21	63	0	0	0	0.00632	0	21	63		
LIPC	3990	broad.mit.edu	37	15	58838000	58838000	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:58838000G>C	ENST00000356113.6	+	7	1249	c.634G>C	c.(634-636)Gat>Cat	p.D212H	LIPC_ENST00000299022.5_Missense_Mutation_p.D212H|LIPC_ENST00000414170.3_Missense_Mutation_p.D212H|LIPC_ENST00000433326.2_Missense_Mutation_p.D151H			P11150	LIPC_HUMAN	lipase, hepatic	212					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TCTTTCTCCAGATGATGCCAA	0.537																																						uc010bga.1		NaN																	0				ovary(1)	1						c.(634-636)GAT>CAT		lipase C precursor							101.0	95.0	97.0					15																	58838000		2192	4292	6484	SO:0001583	missense	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58838000G>C		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.634G>C	15.37:g.58838000G>C	ENSP00000348425:p.Asp212His					LIPC_uc010bfz.1_Missense_Mutation_p.D212H|LIPC_uc002afa.1_Missense_Mutation_p.D212H|LIPC_uc010bgb.1_Missense_Mutation_p.D110H|LIPC_uc010ugy.1_Missense_Mutation_p.D151H	p.D212H	NM_000236	NP_000227	P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	7	1242	+		Colorectal(260;0.215)	212					A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	c.634G>C	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710148	0.68730	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	5.44	5.44	0.79542	Lipase, N-terminal (1);	0.053446	0.64402	D	0.000001	D	0.95768	0.8623	M	0.82433	2.59	0.80722	D	1	D;D	0.76494	0.969;0.999	P;D	0.79784	0.703;0.993	D	0.96074	0.9048	10	0.87932	D	0	.	19.2665	0.93988	0.0:0.0:1.0:0.0	.	151;212	E7EUK6;P11150	.;LIPC_HUMAN	H	212;212;212;151	ENSP00000348425:D212H;ENSP00000395569:D212H;ENSP00000299022:D212H;ENSP00000395002:D151H	ENSP00000299022:D212H	D	+	1	0	LIPC	56625292	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	6.786000	0.75094	2.548000	0.85928	0.563000	0.77884	GAT		0.537	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1				189	128	0	0	0	0.00361	0	189	128		
VPS13C	54832	broad.mit.edu	37	15	62212771	62212771	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:62212771G>A	ENST00000261517.5	-	56	7211	c.7138C>T	c.(7138-7140)Cat>Tat	p.H2380Y	VPS13C_ENST00000395898.3_Missense_Mutation_p.H2337Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.H2380Y|VPS13C_ENST00000249837.3_Missense_Mutation_p.H2337Y	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAAGAAATATGAATTGCCATT	0.313																																						uc002agz.2		NaN																	0				ovary(2)	2						c.(7138-7140)CAT>TAT		vacuolar protein sorting 13C protein isoform 2A							61.0	65.0	64.0					15																	62212771		2203	4295	6498	SO:0001583	missense	54832				protein localization			g.chr15:62212771G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7138C>T	15.37:g.62212771G>A	ENSP00000261517:p.His2380Tyr					VPS13C_uc002aha.2_Missense_Mutation_p.H2337Y|VPS13C_uc002ahb.1_Missense_Mutation_p.H2380Y|VPS13C_uc002ahc.1_Missense_Mutation_p.H2337Y|VPS13C_uc002ahd.1_5'Flank	p.H2380Y	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			56	7212	-			2380						Missense_Mutation	SNP	ENST00000261517.5	37	c.7138C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	8.058	0.767391	0.15983	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.44482	0.92;0.92;0.92	5.84	2.99	0.34606	.	0.307488	0.38111	N	0.001816	T	0.29093	0.0723	L	0.44542	1.39	0.28861	N	0.895498	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.001	T	0.27606	-1.0069	10	0.59425	D	0.04	.	2.1044	0.03688	0.1573:0.1304:0.4786:0.2338	.	2337;2380;2337;2380	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Y	2337;2380;2380;2380	ENSP00000249837:H2337Y;ENSP00000261517:H2380Y;ENSP00000379233:H2380Y	ENSP00000249837:H2337Y	H	-	1	0	VPS13C	60000063	1.000000	0.71417	0.885000	0.34714	0.991000	0.79684	1.699000	0.37804	0.390000	0.25115	0.650000	0.86243	CAT		0.313	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1		NM_017684		14	9	0	0	0	0.012319	0	14	9		
VPS13C	54832	broad.mit.edu	37	15	62254674	62254674	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:62254674C>A	ENST00000261517.5	-	34	3572	c.3499G>T	c.(3499-3501)Gag>Tag	p.E1167*	VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E1124*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E1167*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E1124*	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAATCCCCCTCAGTAGCATCT	0.388																																						uc002agz.2		NaN																	0				ovary(2)	2						c.(3499-3501)GAG>TAG		vacuolar protein sorting 13C protein isoform 2A							170.0	176.0	174.0					15																	62254674		2203	4300	6503	SO:0001587	stop_gained	54832				protein localization			g.chr15:62254674C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3499G>T	15.37:g.62254674C>A	ENSP00000261517:p.Glu1167*					VPS13C_uc002aha.2_Nonsense_Mutation_p.E1124*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.E1167*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.E1124*	p.E1167*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			34	3573	-			1167						Nonsense_Mutation	SNP	ENST00000261517.5	37	c.3499G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	43	10.213050	0.99360	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.79	4.85	0.62838	.	0.060094	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	14.0068	0.64468	0.0:0.9247:0.0:0.0753	.	.	.	.	X	1124;1167;1167;1167	.	ENSP00000249837:E1124X	E	-	1	0	VPS13C	60041966	0.993000	0.37304	0.998000	0.56505	0.844000	0.47949	3.025000	0.49681	1.385000	0.46445	0.561000	0.74099	GAG		0.388	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1		NM_017684		121	92	1	0	1.18608e-55	0.00361	1.30706e-55	121	92		
FBXL22	283807	broad.mit.edu	37	15	63893794	63893794	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:63893794G>A	ENST00000360587.2	+	2	693	c.653G>A	c.(652-654)aGa>aAa	p.R218K	USP3-AS1_ENST00000560622.1_RNA|FBXL22_ENST00000539570.3_Missense_Mutation_p.R212K|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000561191.1_RNA	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	218					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(4)	4						CGCACGGGCAGAAGGAGCCAC	0.716																																						uc002amn.2		NaN																	0					0						c.(634-636)AGA>AAA		F-box and leucine-rich repeat protein 22							6.0	6.0	6.0					15																	63893794		2136	4177	6313	SO:0001583	missense	283807							g.chr15:63893794G>A	BC065833	CCDS10187.1, CCDS10187.2	15q22.1	2012-04-05			ENSG00000197361	ENSG00000197361		"""F-boxes / Leucine-rich repeats"""	27537	protein-coding gene	gene with protein product		609088				12477932	Standard	NM_203373		Approved	Fbl22, FLJ39626	uc002amn.4	Q6P050	OTTHUMG00000132905	ENST00000360587.2:c.653G>A	15.37:g.63893794G>A	ENSP00000353794:p.Arg218Lys					uc002amj.2_5'Flank|uc002amk.2_5'Flank|uc002aml.2_5'Flank	p.R212K	NM_203373	NP_976307	Q6P050	FXL22_HUMAN			2	649	+			212						Missense_Mutation	SNP	ENST00000360587.2	37	c.635G>A	CCDS10187.2	.	.	.	.	.	.	.	.	.	.	g	12.43	1.934306	0.34096	.	.	ENSG00000197361	ENST00000360587;ENST00000539570	T;T	0.51817	0.69;0.7	1.45	-2.9	0.05648	.	.	.	.	.	T	0.17619	0.0423	N	0.08118	0	0.09310	N	0.999995	B	0.22003	0.063	B	0.11329	0.006	T	0.25187	-1.0139	9	0.05833	T	0.94	-2.5432	4.0002	0.09576	0.0:0.3363:0.4707:0.193	.	212	Q6P050	FXL22_HUMAN	K	218;212	ENSP00000353794:R218K;ENSP00000442112:R212K	ENSP00000353794:R218K	R	+	2	0	FBXL22	61680847	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.029000	0.13666	-0.823000	0.04301	0.187000	0.17357	AGA		0.716	FBXL22-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256412.4		NM_203373		8	3	0	0	0	0.006214	0	8	3		
SMAD3	4088	broad.mit.edu	37	15	67477081	67477081	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:67477081C>G	ENST00000327367.4	+	7	1198	c.888C>G	c.(886-888)ctC>ctG	p.L296L	SMAD3_ENST00000537194.2_Silent_p.L101L|SMAD3_ENST00000439724.3_Silent_p.L252L|SMAD3_ENST00000540846.2_Silent_p.L191L	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	296	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.|Sufficient for interaction with XPO4.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GCGTGCGGCTCTACTACATCG	0.587																																						uc002aqj.2		NaN																	0				large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(886-888)CTC>CTG		mothers against decapentaplegic homolog 3							142.0	120.0	128.0					15																	67477081		2201	4299	6500	SO:0001819	synonymous_variant	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67477081C>G	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.888C>G	15.37:g.67477081C>G						SMAD3_uc010ujr.1_Silent_p.L191L|SMAD3_uc010ujs.1_Silent_p.L252L|SMAD3_uc010ujt.1_Silent_p.L101L	p.L296L	NM_005902	NP_005893	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	7	1186	+			296			Sufficient for interaction with XPO4.|MH2.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Silent	SNP	ENST00000327367.4	37	c.888C>G	CCDS10222.1																																																																																				0.587	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2		NM_005902		24	87	0	0	0	0.008361	0	24	87		
C15orf59	388135	broad.mit.edu	37	15	74032703	74032703	+	Missense_Mutation	SNP	G	G	A	rs372039755	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:74032703G>A	ENST00000569673.1	-	3	1641	c.437C>T	c.(436-438)aCg>aTg	p.T146M	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.T146M			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	146										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGGATGGGCGTGCCACCATT	0.667													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		15179	0.0		0.0	False		,,,				2504	0.0					uc002avy.2		NaN																	0				pancreas(1)	1						c.(436-438)ACG>ATG		hypothetical protein LOC388135		G	MET/THR	0,4396		0,0,2198	50.0	53.0	52.0		437	-0.4	0.0	15		52	1,8593	1.2+/-3.3	0,1,4296	no	missense	C15orf59	NM_001039614.1	81	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign	146/294	74032703	1,12989	2198	4297	6495	SO:0001583	missense	388135							g.chr15:74032703G>A		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.437C>T	15.37:g.74032703G>A	ENSP00000457205:p.Thr146Met						p.T146M	NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN			2	782	-			146						Missense_Mutation	SNP	ENST00000569673.1	37	c.437C>T	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304165	0.23736	0.0	1.16E-4	ENSG00000205363	ENST00000379822	T	0.43688	0.94	5.15	-0.439	0.12264	.	1.556260	0.03743	N	0.255362	T	0.25344	0.0616	N	0.08118	0	0.09310	N	0.999999	B	0.12013	0.005	B	0.09377	0.004	T	0.26710	-1.0095	10	0.49607	T	0.09	.	8.5232	0.33289	0.6246:0.0:0.3754:0.0	.	146	Q2T9L4	CO059_HUMAN	M	146	ENSP00000369150:T146M	ENSP00000369150:T146M	T	-	2	0	C15orf59	71819756	0.223000	0.23663	0.002000	0.10522	0.983000	0.72400	3.066000	0.50002	-0.354000	0.08212	0.561000	0.74099	ACG		0.667	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2		NM_001039614		19	64	0	0	0	0.004656	0	19	64		
CSK	1445	broad.mit.edu	37	15	75092810	75092810	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:75092810G>C	ENST00000220003.9	+	6	1249	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	CSK_ENST00000567571.1_Missense_Mutation_p.E174Q|CSK_ENST00000309470.9_Missense_Mutation_p.E174Q|CSK_ENST00000439220.2_Missense_Mutation_p.E174Q	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	174					adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						AAAGGTCATGGAGGGCACAGT	0.622											OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010bkb.1		NaN																	0				lung(2)|central_nervous_system(1)	3						c.(520-522)GAG>CAG		c-src tyrosine kinase							104.0	89.0	94.0					15																	75092810		2197	4296	6493	SO:0001583	missense	1445				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding	g.chr15:75092810G>C		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.520G>C	15.37:g.75092810G>C	ENSP00000220003:p.Glu174Gln		OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1157	CSK_uc002ays.2_Missense_Mutation_p.E174Q|CSK_uc010bkc.1_5'UTR	p.E174Q	NM_001127190	NP_001120662	P41240	CSK_HUMAN			7	703	+			174					Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	c.520G>C	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759982	0.49468	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	T;T;T	0.75704	-0.96;-0.96;-0.96	5.35	5.35	0.76521	Protein kinase-like domain (1);SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.63343	0.2503	N	0.25144	0.715	0.80722	D	1	B	0.21905	0.062	B	0.10450	0.005	T	0.56727	-0.7931	10	0.26408	T	0.33	-35.4888	18.8481	0.92215	0.0:0.0:1.0:0.0	.	174	P41240	CSK_HUMAN	Q	174;174;123;174	ENSP00000220003:E174Q;ENSP00000414764:E174Q;ENSP00000438808:E174Q	ENSP00000220003:E174Q	E	+	1	0	CSK	72879863	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.274000	0.78538	2.790000	0.95986	0.591000	0.81541	GAG		0.622	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2		NM_004383		14	35	0	0	0	0.007413	0	14	35		
GOLGA6D	653643	broad.mit.edu	37	15	75580671	75580671	+	Missense_Mutation	SNP	G	G	C	rs201109551	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:75580671G>C	ENST00000434739.3	+	7	571	c.530G>C	c.(529-531)tGt>tCt	p.C177S		NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	177						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						CGGGCTCTCTGTGCTGTGTCT	0.557																																						uc010uma.1		NaN																	0					0						c.(529-531)TGT>TCT		golgi autoantigen, golgin subfamily a, 6D							14.0	14.0	14.0					15																	75580671		681	1577	2258	SO:0001583	missense	653643							g.chr15:75580671G>C		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6D"""				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.530G>C	15.37:g.75580671G>C	ENSP00000391085:p.Cys177Ser					uc010umb.1_5'Flank	p.C177S	NM_001145224	NP_001138696	P0CG33	GOG6D_HUMAN			7	565	+			177			Potential.			Missense_Mutation	SNP	ENST00000434739.3	37	c.530G>C	CCDS45308.1	.	.	.	.	.	.	.	.	.	.	-	0.008	-1.914881	0.00503	.	.	ENSG00000140478	ENST00000434739	T	0.06371	3.31	1.57	0.589	0.17452	.	.	.	.	.	T	0.01353	0.0044	N	0.00382	-1.575	0.20307	N	0.999918	B	0.06786	0.001	B	0.04013	0.001	T	0.45963	-0.9225	9	0.02654	T	1	.	7.744	0.28858	0.0:0.7322:0.2678:0.0	.	177	P0CG33	GOG6D_HUMAN	S	177	ENSP00000391085:C177S	ENSP00000391085:C177S	C	+	2	0	GOLGA6D	73367724	0.991000	0.36638	0.005000	0.12908	0.131000	0.20780	3.167000	0.50793	0.233000	0.21120	-1.252000	0.01501	TGT		0.557	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1		NM_001145224		6	110	0	0	0	0.010729	0	6	110		
IMP3	55272	broad.mit.edu	37	15	75932413	75932413	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:75932413C>T	ENST00000314852.2	-	2	1040	c.97G>A	c.(97-99)Gtg>Atg	p.V33M	IMP3_ENST00000565349.1_5'Flank|CTD-2026K11.2_ENST00000564683.1_RNA|IMP3_ENST00000403490.1_Missense_Mutation_p.V33M			Q8TCT8	SPP2A_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein	0					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			large_intestine(1)	1						CGCCGCAGCACGCGCAGCTCG	0.657																																						uc002bat.2		NaN																	0					0						c.(97-99)GTG>ATG		IMP3, U3 small nucleolar ribonucleoprotein							17.0	14.0	15.0					15																	75932413		2167	4245	6412	SO:0001583	missense	55272				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding	g.chr15:75932413C>T	AB051628	CCDS10282.1	15q24	2014-02-19	2014-02-19	2005-07-14	ENSG00000177971	ENSG00000177971			14497	protein-coding gene	gene with protein product		612980	"""mitochondrial ribosomal protein S4"", ""chromosome 15 open reading frame 12"", ""IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""	MRPS4, C15orf12		11543634, 12655004	Standard	NM_018285		Approved	FLJ10968, BRMS2	uc010bkl.2	Q9NV31	OTTHUMG00000142840	ENST00000314852.2:c.97G>A	15.37:g.75932413C>T	ENSP00000326981:p.Val33Met					IMP3_uc010bkl.1_Missense_Mutation_p.V33M	p.V33M	NM_018285	NP_060755	Q9NV31	IMP3_HUMAN			2	1041	-			33			Arg-rich.		B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000314852.2	37	c.97G>A	CCDS10282.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900449	0.72754	.	.	ENSG00000177971	ENST00000314852;ENST00000403490	T;T	0.47177	0.85;0.85	6.07	6.07	0.98685	.	0.058236	0.64402	D	0.000002	T	0.42268	0.1195	L	0.48362	1.52	0.58432	D	0.999998	P	0.42203	0.773	B	0.33960	0.173	T	0.43180	-0.9407	10	0.56958	D	0.05	-2.311	18.1378	0.89627	0.0:1.0:0.0:0.0	.	33	Q9NV31	IMP3_HUMAN	M	33	ENSP00000326981:V33M;ENSP00000385217:V33M	ENSP00000326981:V33M	V	-	1	0	IMP3	73719468	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	4.255000	0.58804	2.884000	0.98904	0.655000	0.94253	GTG		0.657	IMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286476.1		NM_018285		8	21	0	0	0	0.010729	0	8	21		
MESDC2	23184	broad.mit.edu	37	15	81282044	81282044	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:81282044C>A	ENST00000261758.4	-	1	175	c.89G>T	c.(88-90)gGg>gTg	p.G30V	RP11-775C24.3_ENST00000563737.1_lincRNA	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	30	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CGCGCAGGACCCAGGCGGTGG	0.637																																						uc002bfy.1		NaN																	0					0						c.(88-90)GGG>GTG		mesoderm development candidate 2							33.0	33.0	33.0					15																	81282044		2203	4298	6501	SO:0001583	missense	23184				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		g.chr15:81282044C>A	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.89G>T	15.37:g.81282044C>A	ENSP00000261758:p.Gly30Val					MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	p.G30V	NM_015154	NP_055969	Q14696	MESD_HUMAN			1	162	-			30			Chaperone domain (By similarity).		B4DW84|D3DW96|Q969U1	Missense_Mutation	SNP	ENST00000261758.4	37	c.89G>T	CCDS32308.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277115	0.59758	.	.	ENSG00000117899	ENST00000422879;ENST00000261758	.	.	.	4.32	1.91	0.25777	.	1.145760	0.06618	N	0.756934	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25745	-1.0123	9	0.27082	T	0.32	-16.8828	1.1654	0.01814	0.1397:0.3933:0.2069:0.2601	.	30	Q14696	MESD_HUMAN	V	30	.	ENSP00000261758:G30V	G	-	2	0	MESDC2	79069099	0.000000	0.05858	0.002000	0.10522	0.150000	0.21749	0.071000	0.14594	0.327000	0.23409	0.591000	0.81541	GGG		0.637	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2		NM_015154		21	44	1	0	3.5997e-14	0.002299	3.80161e-14	21	44		
SEMA4B	10509	broad.mit.edu	37	15	90764303	90764303	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:90764303C>G	ENST00000411539.2	+	5	833	c.573C>G	c.(571-573)ttC>ttG	p.F191L	SEMA4B_ENST00000379122.3_Missense_Mutation_p.F186L|SEMA4B_ENST00000332496.6_Missense_Mutation_p.F191L	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	186	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ACCCGAATTTCAAGTCCACTG	0.572											OREG0023469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002boy.2		NaN																	0				ovary(1)|breast(1)|kidney(1)	3						c.(571-573)TTC>TTG		semaphorin 4B precursor							68.0	68.0	68.0					15																	90764303		2055	4207	6262	SO:0001583	missense	10509							g.chr15:90764303C>G	AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.573C>G	15.37:g.90764303C>G	ENSP00000394720:p.Phe191Leu		OREG0023469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1277	SEMA4B_uc002boz.2_Missense_Mutation_p.F191L|SEMA4B_uc010uqd.1_Missense_Mutation_p.F29L|SEMA4B_uc002bpa.2_Missense_Mutation_p.F29L|SEMA4B_uc010bnv.1_5'Flank	p.F191L	NM_020210	NP_064595			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		6	856	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	ENST00000411539.2	37	c.573C>G	CCDS45347.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142562	0.94560	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.09817	2.94;2.94;2.94	5.58	3.71	0.42584	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.054790	0.85682	D	0.000000	T	0.05456	0.0144	N	0.05306	-0.075	0.36952	D	0.892925	B;B	0.29805	0.257;0.257	B;B	0.36030	0.216;0.216	T	0.41106	-0.9527	10	0.11182	T	0.66	.	8.7335	0.34514	0.0:0.7663:0.0:0.2337	.	191;186	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	L	191;186;191	ENSP00000332204:F191L;ENSP00000368417:F186L;ENSP00000394720:F191L	ENSP00000332204:F191L	F	+	3	2	SEMA4B	88565307	0.992000	0.36948	1.000000	0.80357	0.951000	0.60555	0.476000	0.22180	0.831000	0.34780	0.655000	0.94253	TTC		0.572	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1		NM_198925		11	5	0	0	0	0.00245	0	11	5		
FURIN	5045	broad.mit.edu	37	15	91423349	91423349	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:91423349C>T	ENST00000268171.3	+	13	1681	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	468					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCTCGAGGTGCGGAAGACCGT	0.667																																						uc002bpu.1		NaN																	0				central_nervous_system(4)|lung(2)|breast(1)	7						c.(1402-1404)CGG>TGG		furin preproprotein							42.0	42.0	42.0					15																	91423349		2198	4298	6496	SO:0001583	missense	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91423349C>T	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1402C>T	15.37:g.91423349C>T	ENSP00000268171:p.Arg468Trp						p.R468W	NM_002569	NP_002560	P09958	FURIN_HUMAN	Lung(145;0.189)		13	1618	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		468					Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	c.1402C>T	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276201	0.59649	.	.	ENSG00000140564	ENST00000268171	T	0.64260	-0.09	4.65	4.65	0.58169	Galactose-binding domain-like (1);	0.226096	0.44285	D	0.000477	T	0.67306	0.2879	L	0.58101	1.795	0.52099	D	0.999941	D	0.71674	0.998	P	0.52554	0.702	T	0.71839	-0.4471	10	0.87932	D	0	-25.9168	12.8274	0.57726	0.1632:0.8368:0.0:0.0	.	468	P09958	FURIN_HUMAN	W	468	ENSP00000268171:R468W	ENSP00000268171:R468W	R	+	1	2	FURIN	89224353	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	3.888000	0.56204	2.410000	0.81850	0.485000	0.47835	CGG		0.667	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1		NM_002569		10	40	0	0	0	0.001855	0	10	40		
OR4F15	390649	broad.mit.edu	37	15	102358647	102358647	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:102358647C>G	ENST00000332238.4	+	1	282	c.258C>G	c.(256-258)ttC>ttG	p.F86L		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GTGATATTTTCAAGAAGCACA	0.463																																						uc010uts.1		NaN																	0					0						c.(256-258)TTC>TTG		olfactory receptor, family 4, subfamily F,							166.0	149.0	154.0					15																	102358647		2203	4300	6503	SO:0001583	missense	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102358647C>G	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.258C>G	15.37:g.102358647C>G	ENSP00000333184:p.Phe86Leu						p.F86L	NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	258	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		86			Extracellular (Potential).		B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	c.258C>G	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	8.940	0.965604	0.18583	.	.	ENSG00000182854	ENST00000332238	T	0.00340	8.04	5.57	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.095466	0.47093	D	0.000250	T	0.00109	0.0003	N	0.00823	-1.155	0.33271	D	0.561048	B	0.23591	0.088	B	0.27076	0.076	T	0.09185	-1.0686	9	.	.	.	.	10.6594	0.45694	0.0:0.8433:0.0:0.1567	.	86	Q8NGB8	O4F15_HUMAN	L	86	ENSP00000333184:F86L	.	F	+	3	2	OR4F15	100176170	0.000000	0.05858	0.944000	0.38274	0.983000	0.72400	-1.924000	0.01565	0.891000	0.36235	0.650000	0.86243	TTC		0.463	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1		NM_001001674		22	84	0	0	0	0.010504	0	22	84		
RAB40C	57799	broad.mit.edu	37	16	677451	677451	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:677451C>T	ENST00000248139.3	+	6	878	c.675C>T	c.(673-675)ttC>ttT	p.F225F	RAB40C_ENST00000538492.1_Silent_p.F225F|RAB40C_ENST00000539661.1_Silent_p.F225F|RAB40C_ENST00000535977.1_Silent_p.F225F	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	225	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TCAAGTCCTTCTCGATGGCCA	0.652																																					Melanoma(123;1631 1690 28262 44104 44957)	uc002chr.2		NaN																	0					0						c.(673-675)TTC>TTT		RAB40C, member RAS oncogene family							177.0	147.0	157.0					16																	677451		2201	4300	6501	SO:0001819	synonymous_variant	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:677451C>T	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.675C>T	16.37:g.677451C>T						RAB40C_uc002chq.2_Silent_p.F206F|WFIKKN1_uc002chs.1_5'Flank	p.F225F	NM_021168	NP_066991	Q96S21	RB40C_HUMAN			6	791	+		Hepatocellular(780;0.0218)	225			SOCS box.		A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Silent	SNP	ENST00000248139.3	37	c.675C>T	CCDS10413.1																																																																																				0.652	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4		NM_021168		54	172	0	0	0	0.00361	0	54	172		
CASKIN1	57524	broad.mit.edu	37	16	2237255	2237255	+	Silent	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:2237255C>A	ENST00000343516.6	-	8	839	c.747G>T	c.(745-747)gtG>gtT	p.V249V	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	249					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AGGTGTTCCTCACGTGGGCAT	0.632																																						uc010bsg.1		NaN																	0				skin(2)	2						c.(745-747)GTG>GTT		CASK interacting protein 1							101.0	102.0	102.0					16																	2237255		2155	4263	6418	SO:0001819	synonymous_variant	57524				signal transduction	cytoplasm		g.chr16:2237255C>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.747G>T	16.37:g.2237255C>A							p.V249V	NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN			8	779	-			249			ANK 6.		Q9P2P0	Silent	SNP	ENST00000343516.6	37	c.747G>T	CCDS42103.1																																																																																				0.632	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1		NM_020764		27	73	1	0	6.00712e-18	0.012213	6.46845e-18	27	73		
THOC6	79228	broad.mit.edu	37	16	3076366	3076366	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:3076366G>C	ENST00000326266.8	+	6	659	c.363G>C	c.(361-363)agG>agC	p.R121S	HCFC1R1_ENST00000396916.1_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000354679.3_5'Flank|THOC6_ENST00000574549.1_Splice_Site_p.R97S|HCFC1R1_ENST00000572355.1_5'Flank|THOC6_ENST00000253952.9_Splice_Site_p.R121S|THOC6_ENST00000575576.1_Splice_Site_p.R97S|HCFC1R1_ENST00000248089.3_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	121				R -> S (in Ref. 1; BAG36782). {ECO:0000305}.	apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CCTTCCCCAGGACCAGCCTGG	0.572																																						uc002ctb.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(361-363)AGG>AGC		WD repeat domain 58 isoform 1							120.0	101.0	107.0					16																	3076366		2198	4300	6498	SO:0001630	splice_region_variant	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3076366G>C	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.363-1G>C	16.37:g.3076366G>C						HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.R121S|THOC6_uc002ctc.2_Missense_Mutation_p.R97S|THOC6_uc002cta.2_Missense_Mutation_p.R97S	p.R121S	NM_024339	NP_077315	Q86W42	THOC6_HUMAN			6	659	+			121	R -> S (in Ref. 1; BAG36782).				B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.363G>C	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549073	0.27652	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.27256	1.68;1.68	5.7	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.137968	0.64402	D	0.000003	T	0.13586	0.0329	N	0.17474	0.49	0.48830	D	0.999719	B;B	0.12013	0.005;0.003	B;B	0.09377	0.004;0.004	T	0.11891	-1.0569	9	.	.	.	.	7.3929	0.26919	0.0834:0.0:0.748:0.1686	.	121;121	Q86W42-3;Q86W42	.;THOC6_HUMAN	S	121	ENSP00000326531:R121S;ENSP00000253952:R121S	.	R	+	3	2	THOC6	3016367	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.804000	0.55568	1.393000	0.46605	0.561000	0.74099	AGG		0.572	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1		NM_024339	Missense_Mutation	15	40	0	0	0	0.007413	0	15	40		
DNAH3	55567	broad.mit.edu	37	16	21128567	21128567	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:21128567G>C	ENST00000261383.3	-	12	1770	c.1771C>G	c.(1771-1773)Caa>Gaa	p.Q591E	DNAH3_ENST00000415178.1_Missense_Mutation_p.Q591E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	591	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGAAAGTTTGAATCAAAAAA	0.363																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(1771-1773)CAA>GAA		dynein, axonemal, heavy chain 3							71.0	70.0	70.0					16																	21128567		2200	4299	6499	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21128567G>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1771C>G	16.37:g.21128567G>C	ENSP00000261383:p.Gln591Glu					DNAH3_uc002die.2_Missense_Mutation_p.Q531E	p.Q591E	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	12	1771	-			591			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1771C>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	2.474	-0.321248	0.05386	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.21031	2.03;2.2	5.39	5.39	0.77823	.	0.156711	0.41605	D	0.000849	T	0.18341	0.0440	L	0.59436	1.845	0.34278	D	0.681793	B;B	0.27316	0.001;0.175	B;B	0.24541	0.002;0.054	T	0.11717	-1.0576	10	0.06365	T	0.9	.	11.6057	0.51031	0.0:0.0:0.7139:0.2861	.	591;531	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	E	591;591;531	ENSP00000261383:Q591E;ENSP00000394245:Q591E	ENSP00000261383:Q591E	Q	-	1	0	DNAH3	21036068	1.000000	0.71417	0.980000	0.43619	0.346000	0.29079	1.840000	0.39230	2.512000	0.84698	0.655000	0.94253	CAA		0.363	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		4	58	0	0	0	0.000602	0	4	58		
ERN2	10595	broad.mit.edu	37	16	23724503	23724503	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:23724503C>T	ENST00000457008.2	-	1	44	c.6G>A	c.(4-6)gcG>gcA	p.A2A	CTD-2385L22.1_ENST00000563611.1_RNA|ERN2_ENST00000256797.4_Silent_p.A50A					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGACCGCACTCGCCATAGCGC	0.736																																						uc002dma.3		NaN																	0				large_intestine(2)|lung(2)|ovary(2)	6						c.(148-150)GCG>GCA		endoplasmic reticulum to nucleus signalling 2							6.0	8.0	7.0					16																	23724503		2092	4153	6245	SO:0001819	synonymous_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23724503C>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.6G>A	16.37:g.23724503C>T						ERN2_uc010bxp.2_Silent_p.A50A|ERN2_uc010bxq.1_5'UTR	p.A50A	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	1	319	-			2						Silent	SNP	ENST00000457008.2	37	c.150G>A																																																																																					0.736	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1				7	5	0	0	0	0.004482	0	7	5		
XPO6	23214	broad.mit.edu	37	16	28145186	28145186	+	Silent	SNP	C	C	T	rs529603592		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:28145186C>T	ENST00000304658.5	-	11	2012	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	XPO6_ENST00000565698.1_Silent_p.L490L	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	504					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CGTGCGTGGGCAGGAGCTCCA	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14370	0.0		0.0	False		,,,				2504	0.0					uc002dpa.1		NaN																	0				ovary(1)|skin(1)	2						c.(1510-1512)CTG>CTA		exportin 6							59.0	65.0	63.0					16																	28145186		2128	4220	6348	SO:0001819	synonymous_variant	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28145186C>T	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1512G>A	16.37:g.28145186C>T						XPO6_uc002dpb.1_Silent_p.L490L|XPO6_uc010vcp.1_Silent_p.L504L	p.L504L	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN			11	2013	-			504					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	c.1512G>A	CCDS42135.1																																																																																				0.587	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1		XM_055195		72	48	0	0	0	0.00361	0	72	48		
RNF40	9810	broad.mit.edu	37	16	30775620	30775620	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:30775620C>G	ENST00000324685.6	+	5	998	c.563C>G	c.(562-564)tCc>tGc	p.S188C	C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000402121.3_Intron|C16orf93_ENST00000543610.1_5'Flank|C16orf93_ENST00000545825.1_5'Flank|RNF40_ENST00000357890.5_Missense_Mutation_p.S188C|RNF40_ENST00000563683.1_Missense_Mutation_p.S188C	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	188					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			ATGGAGTTCTCCAAGGCAGCT	0.627																																						uc002dzq.2		NaN																	0				central_nervous_system(1)	1						c.(562-564)TCC>TGC		ring finger protein 40							78.0	64.0	69.0					16																	30775620		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30775620C>G	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.563C>G	16.37:g.30775620C>G	ENSP00000325677:p.Ser188Cys					C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Missense_Mutation_p.S188C|RNF40_uc010cab.2_Missense_Mutation_p.S188C|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.S188C|RNF40_uc010vfb.1_Intron	p.S188C	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		5	686	+			188					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.563C>G	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204470	0.79127	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000452273	T;T	0.61040	0.88;0.14	5.54	5.54	0.83059	.	0.220669	0.44097	D	0.000492	T	0.76335	0.3973	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	0.986;1.0;1.0	P;D;D	0.76071	0.756;0.987;0.979	T	0.78617	-0.2134	10	0.87932	D	0	-13.1143	14.0521	0.64745	0.0:0.8488:0.1512:0.0	.	188;188;188	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	C	188;188;37	ENSP00000325677:S188C;ENSP00000350563:S188C	ENSP00000325677:S188C	S	+	2	0	RNF40	30683121	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.032000	0.57274	2.884000	0.98904	0.655000	0.94253	TCC		0.627	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2		NM_014771		14	57	0	0	0	0.007413	0	14	57		
RNF40	9810	broad.mit.edu	37	16	30776275	30776275	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:30776275C>G	ENST00000324685.6	+	6	1101	c.666C>G	c.(664-666)ctC>ctG	p.L222L	C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000402121.3_Intron|C16orf93_ENST00000543610.1_5'Flank|C16orf93_ENST00000545825.1_5'Flank|RNF40_ENST00000357890.5_Silent_p.L222L|RNF40_ENST00000563683.1_Silent_p.L222L	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	222					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GTGAGCCCCTCAGTGAGGCGG	0.602																																						uc002dzq.2		NaN																	0				central_nervous_system(1)	1						c.(664-666)CTC>CTG		ring finger protein 40							30.0	34.0	33.0					16																	30776275		2197	4298	6495	SO:0001819	synonymous_variant	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30776275C>G	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.666C>G	16.37:g.30776275C>G						C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Silent_p.L222L|RNF40_uc010cab.2_Silent_p.L222L|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Silent_p.L222L|RNF40_uc010vfb.1_Intron	p.L222L	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		6	789	+			222			Potential.		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP	ENST00000324685.6	37	c.666C>G	CCDS10691.1																																																																																				0.602	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2		NM_014771		16	81	0	0	0	0.010504	0	16	81		
LONP2	83752	broad.mit.edu	37	16	48286132	48286132	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:48286132C>G	ENST00000285737.4	+	2	417	c.324C>G	c.(322-324)ttC>ttG	p.F108L	LONP2_ENST00000535754.1_Missense_Mutation_p.F108L	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TATGCCGTTTCCAGATTGTAC	0.502																																						uc002efi.1		NaN																	0					0						c.(322-324)TTC>TTG		peroxisomal LON protease-like							80.0	70.0	73.0					16																	48286132		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48286132C>G	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.324C>G	16.37:g.48286132C>G	ENSP00000285737:p.Phe108Leu					LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.F108L	p.F108L	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			2	413	+			108			Lon.			Missense_Mutation	SNP	ENST00000285737.4	37	c.324C>G	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392266	0.62066	.	.	ENSG00000102910	ENST00000285737;ENST00000535754;ENST00000416006	T;T;T	0.47869	0.83;0.83;0.83	5.08	5.08	0.68730	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.190296	0.53938	D	0.000045	T	0.56485	0.1988	M	0.78049	2.395	0.58432	D	0.999993	B;B	0.22346	0.068;0.068	B;B	0.29942	0.109;0.109	T	0.60031	-0.7342	10	0.72032	D	0.01	-18.2172	18.8615	0.92273	0.0:1.0:0.0:0.0	.	108;108	B7ZKL7;Q86WA8	.;LONP2_HUMAN	L	108	ENSP00000285737:F108L;ENSP00000445426:F108L;ENSP00000415983:F108L	ENSP00000285737:F108L	F	+	3	2	LONP2	46843633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.597000	0.46214	2.524000	0.85096	0.650000	0.86243	TTC		0.502	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2		NM_031490		17	16	0	0	0	0.008871	0	17	16		
IRX6	79190	broad.mit.edu	37	16	55363210	55363210	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:55363210G>C	ENST00000290552.7	+	5	2652	c.1320G>C	c.(1318-1320)ccG>ccC	p.P440P	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	440					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCCAGTACCCGTCTGGAGCAG	0.627																																						uc002ehy.2		NaN																	0				central_nervous_system(5)|ovary(1)	6						c.(1318-1320)CCG>CCC		iroquois homeobox protein 6							33.0	39.0	37.0					16																	55363210		2197	4297	6494	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55363210G>C	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1320G>C	16.37:g.55363210G>C						IRX6_uc002ehx.2_Silent_p.P440P	p.P440P	NM_024335	NP_077311	P78412	IRX6_HUMAN			5	1853	+			440					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.1320G>C	CCDS32449.1																																																																																				0.627	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4		NM_024335		3	51	0	0	0	0.009096	0	3	51		
DRC7	84229	broad.mit.edu	37	16	57731954	57731954	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:57731954G>A	ENST00000360716.3	+	3	314	c.93G>A	c.(91-93)atG>atA	p.M31I	CCDC135_ENST00000336825.8_Missense_Mutation_p.M31I|CCDC135_ENST00000394337.4_Missense_Mutation_p.M31I|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		31					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGGAGAAAATGATGAGGCCAG	0.582																																						uc002emi.2		NaN																	0				central_nervous_system(1)	1						c.(91-93)ATG>ATA		coiled-coil domain containing 135							96.0	80.0	86.0					16																	57731954		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57731954G>A																												ENST00000360716.3:c.93G>A	16.37:g.57731954G>A	ENSP00000353942:p.Met31Ile					CCDC135_uc002emj.2_Missense_Mutation_p.M31I|CCDC135_uc002emk.2_Missense_Mutation_p.M31I	p.M31I	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			2	182	+			31			Potential.		A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.93G>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703054	0.30232	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.09163	3.18;3.01;3.18	4.11	-1.39	0.08997	.	3.469510	0.00604	N	0.000397	T	0.07638	0.0192	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.30357	-0.9981	10	0.25751	T	0.34	-2.9424	4.3163	0.10995	0.2846:0.3197:0.3957:0.0	.	31;31	Q8IY82-2;Q8IY82	.;CC135_HUMAN	I	31	ENSP00000377869:M31I;ENSP00000338938:M31I;ENSP00000353942:M31I	ENSP00000338938:M31I	M	+	3	0	CCDC135	56289455	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.365000	0.07573	-0.182000	0.10602	0.297000	0.19635	ATG		0.582	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2				10	13	0	0	0	0.008291	0	10	13		
CDH5	1003	broad.mit.edu	37	16	66423281	66423281	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:66423281A>C	ENST00000341529.3	+	5	785	c.637A>C	c.(637-639)Aaa>Caa	p.K213Q	CDH5_ENST00000563425.2_Missense_Mutation_p.K213Q	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CACAATAACGAAAAGCTTGGA	0.562																																						uc002eom.3		NaN																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(637-639)AAA>CAA		cadherin 5, type 2 preproprotein							65.0	65.0	65.0					16																	66423281		2202	4300	6502	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66423281A>C	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.637A>C	16.37:g.66423281A>C	ENSP00000344115:p.Lys213Gln					CDH5_uc002eon.1_Missense_Mutation_p.K213Q	p.K213Q	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	5	793	+		Ovarian(137;0.0955)	213			Cadherin 2.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.637A>C	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357359	0.24598	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.56275	0.47	5.51	1.79	0.24919	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34366	0.0895	N	0.25485	0.75	0.09310	N	1	B	0.14012	0.009	B	0.18263	0.021	T	0.28554	-1.0040	9	0.54805	T	0.06	.	2.3113	0.04187	0.3621:0.3724:0.1444:0.1211	.	213	P33151	CADH5_HUMAN	Q	213	ENSP00000344115:K213Q	ENSP00000344115:K213Q	K	+	1	0	CDH5	64980782	0.000000	0.05858	0.075000	0.20258	0.575000	0.36095	0.048000	0.14078	0.363000	0.24346	0.533000	0.62120	AAA		0.562	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1		NM_001795		14	32	0	0	0	0.006122	0	14	32		
CDH5	1003	broad.mit.edu	37	16	66431938	66431938	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:66431938G>A	ENST00000341529.3	+	9	1562	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	472	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	AGTTTTGGATGAGAATGACAA	0.542																																						uc002eom.3		NaN																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1414-1416)GAG>AAG		cadherin 5, type 2 preproprotein							164.0	154.0	157.0					16																	66431938		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66431938G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1414G>A	16.37:g.66431938G>A	ENSP00000344115:p.Glu472Lys						p.E472K	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	9	1570	+		Ovarian(137;0.0955)	472			Cadherin 4.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1414G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890507	0.72524	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.61274	0.12	4.5	4.5	0.54988	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.58278	0.2111	L	0.49350	1.555	0.80722	D	1	P	0.43352	0.804	B	0.44315	0.446	T	0.65076	-0.6256	9	0.72032	D	0.01	.	15.9502	0.79827	0.0:0.0:1.0:0.0	.	472	P33151	CADH5_HUMAN	K	472;213	ENSP00000344115:E472K	ENSP00000344115:E472K	E	+	1	0	CDH5	64989439	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	3.867000	0.56047	2.343000	0.79666	0.561000	0.74099	GAG		0.542	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1		NM_001795		72	96	0	0	0	0.00361	0	72	96		
SLC7A6	9057	broad.mit.edu	37	16	68325477	68325477	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:68325477C>T	ENST00000566454.1	+	8	1204	c.935C>T	c.(934-936)aCg>aTg	p.T312M	SLC7A6_ENST00000219343.6_Missense_Mutation_p.T312M	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		GCTGACCAGACGTTTGGCATG	0.502																																						uc002evt.1		NaN																	0				central_nervous_system(1)	1						c.(934-936)ACG>ATG		solute carrier family 7 (cationic amino acid							252.0	207.0	223.0					16																	68325477		2198	4300	6498	SO:0001583	missense	9057				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	g.chr16:68325477C>T	D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"""Solute carriers"""	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.935C>T	16.37:g.68325477C>T	ENSP00000455064:p.Thr312Met					SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.T312M|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	p.T312M	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)	8	1244	+		Ovarian(137;0.0563)	312			Helical; (Potential).			Missense_Mutation	SNP	ENST00000566454.1	37	c.935C>T	CCDS32470.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781130	0.49891	.	.	ENSG00000103064	ENST00000219343	D	0.90004	-2.6	5.24	4.27	0.50696	Amino acid permease domain (1);	0.395032	0.30329	N	0.009872	D	0.83459	0.5259	L	0.39245	1.2	0.80722	D	1	P	0.38677	0.642	B	0.40375	0.327	T	0.81217	-0.1033	10	0.37606	T	0.19	.	8.5559	0.33480	0.0:0.8247:0.0:0.1753	.	312	Q92536	YLAT2_HUMAN	M	312	ENSP00000219343:T312M	ENSP00000219343:T312M	T	+	2	0	SLC7A6	66882978	0.788000	0.28762	0.992000	0.48379	0.988000	0.76386	1.646000	0.37249	2.598000	0.87819	0.655000	0.94253	ACG		0.502	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1		NM_003983		67	79	0	0	0	0.00361	0	67	79		
PRMT7	54496	broad.mit.edu	37	16	68389659	68389659	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:68389659G>C	ENST00000339507.5	+	17	2514	c.1684G>C	c.(1684-1686)Gag>Cag	p.E562Q	PRMT7_ENST00000441236.1_Missense_Mutation_p.E512Q|PRMT7_ENST00000348497.4_Missense_Mutation_p.E414Q|PRMT7_ENST00000449359.3_Missense_Mutation_p.E512Q			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	562	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CAGGGAAGCTGAGCCCCACCC	0.677																																						uc002evy.1		NaN																	0					0						c.(1684-1686)GAG>CAG		protein arginine methyltransferase 7							34.0	31.0	32.0					16																	68389659		2197	4300	6497	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68389659G>C	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1684G>C	16.37:g.68389659G>C	ENSP00000343103:p.Glu562Gln					PRMT7_uc010vlg.1_Missense_Mutation_p.E512Q|PRMT7_uc002evz.1_Missense_Mutation_p.E334Q|PRMT7_uc010cfd.1_Missense_Mutation_p.E54Q	p.E562Q	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	17	1960	+		Ovarian(137;0.192)	562					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.1684G>C	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	G	35	5.434590	0.96150	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.82	5.82	0.92795	.	0.043594	0.85682	N	0.000000	T	0.55049	0.1896	M	0.83483	2.645	0.35121	D	0.767081	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.96;0.998;0.963	T	0.67067	-0.5764	10	0.56958	D	0.05	-24.0877	15.6009	0.76626	0.0:0.0:1.0:0.0	.	512;414;562	Q9NVM4-3;Q9NVM4-2;Q9NVM4	.;.;ANM7_HUMAN	Q	512;512;414;562	ENSP00000414716:E512Q;ENSP00000409324:E512Q;ENSP00000345775:E414Q;ENSP00000343103:E562Q	ENSP00000343103:E562Q	E	+	1	0	PRMT7	66947160	1.000000	0.71417	0.965000	0.40720	0.944000	0.59088	9.030000	0.93725	2.756000	0.94617	0.563000	0.77884	GAG		0.677	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3		NM_019023		10	8	0	0	0	0.006214	0	10	8		
COG8	84342	broad.mit.edu	37	16	69368866	69368866	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:69368866G>C	ENST00000306875.4	-	3	1085	c.971C>G	c.(970-972)tCa>tGa	p.S324*	RP11-343C2.12_ENST00000562949.1_5'Flank|COG8_ENST00000562081.1_Nonsense_Mutation_p.S324*	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	324					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CAGGAATTGTGAGACCTTCTG	0.592																																						uc002ewy.2		NaN																	0				ovary(1)	1						c.(970-972)TCA>TGA		component of oligomeric golgi complex 8							59.0	53.0	55.0					16																	69368866		2198	4300	6498	SO:0001587	stop_gained	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69368866G>C	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.971C>G	16.37:g.69368866G>C	ENSP00000305459:p.Ser324*					COG8_uc002ewz.3_Nonsense_Mutation_p.S324*	p.S324*	NM_032382	NP_115758	Q96MW5	COG8_HUMAN			3	1042	-			324					Q0VAK2|Q8WVV6|Q9H6F8	Nonsense_Mutation	SNP	ENST00000306875.4	37	c.971C>G	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	G	37	6.451415	0.97577	.	.	ENSG00000213380	ENST00000306875	.	.	.	5.93	5.93	0.95920	.	0.106942	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-3.2731	20.3363	0.98740	0.0:0.0:1.0:0.0	.	.	.	.	X	324	.	ENSP00000305459:S324X	S	-	2	0	COG8	67926367	1.000000	0.71417	0.956000	0.39512	0.948000	0.59901	9.415000	0.97375	2.814000	0.96858	0.563000	0.77884	TCA		0.592	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2		NM_032382		25	59	0	0	0	0.005443	0	25	59		
COG8	84342	broad.mit.edu	37	16	69370435	69370435	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:69370435C>T	ENST00000306875.4	-	2	672	c.558G>A	c.(556-558)agG>agA	p.R186R	RP11-343C2.7_ENST00000564737.1_3'UTR|RP11-343C2.12_ENST00000562949.1_5'Flank|COG8_ENST00000562081.1_Silent_p.R186R|NIP7_ENST00000254940.5_5'Flank|RP11-343C2.9_ENST00000563634.1_Silent_p.R61R	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	186					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						AAGAGTATTTCCTCTCCAGTC	0.488																																						uc002ewy.2		NaN																	0				ovary(1)	1						c.(556-558)AGG>AGA		component of oligomeric golgi complex 8							87.0	79.0	82.0					16																	69370435		2198	4300	6498	SO:0001819	synonymous_variant	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69370435C>T	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.558G>A	16.37:g.69370435C>T						COG8_uc002ewz.3_Silent_p.R186R	p.R186R	NM_032382	NP_115758	Q96MW5	COG8_HUMAN			2	629	-			186					Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP	ENST00000306875.4	37	c.558G>A	CCDS10876.1																																																																																				0.488	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2		NM_032382		9	36	0	0	0	0.001368	0	9	36		
COG8	84342	broad.mit.edu	37	16	69373450	69373450	+	Silent	SNP	C	C	T	rs142062440		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:69373450C>T	ENST00000306875.4	-	1	120	c.6G>A	c.(4-6)gcG>gcA	p.A2A	NIP7_ENST00000254941.6_5'Flank|RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000569637.2_5'Flank|COG8_ENST00000562081.1_Silent_p.A2A|NIP7_ENST00000254940.5_5'UTR|RP11-343C2.9_ENST00000563634.1_Intron	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	2					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TCGCCGCGGTCGCCATCTTCC	0.622											OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ewy.2		NaN																	0				ovary(1)	1						c.(4-6)GCG>GCA		component of oligomeric golgi complex 8		C	,,	1,4393	2.1+/-5.4	0,1,2196	29.0	25.0	27.0		,,6	-3.7	0.0	16	dbSNP_134	27	0,8598		0,0,4299	no	utr-5,utr-5,coding-synonymous	NIP7,COG8	NM_001199434.1,NM_016101.4,NM_032382.4	,,	0,1,6495	TT,TC,CC		0.0,0.0228,0.0077	,,	,,2/613	69373450	1,12991	2197	4299	6496	SO:0001819	synonymous_variant	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69373450C>T	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.6G>A	16.37:g.69373450C>T			OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1114	COG8_uc002ewz.3_Silent_p.A2A|NIP7_uc002exa.2_5'Flank|NIP7_uc002exb.2_5'Flank	p.A2A	NM_032382	NP_115758	Q96MW5	COG8_HUMAN			1	77	-			2					Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP	ENST00000306875.4	37	c.6G>A	CCDS10876.1																																																																																				0.622	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2		NM_032382		17	25	0	0	0	0.008871	0	17	25		
BANP	54971	broad.mit.edu	37	16	88017774	88017774	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:88017774C>G	ENST00000393207.1	+	4	468	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V	BANP_ENST00000355022.4_Missense_Mutation_p.L91V|BANP_ENST00000355163.5_Missense_Mutation_p.L97V|BANP_ENST00000393208.2_Missense_Mutation_p.L91V|BANP_ENST00000286122.7_Missense_Mutation_p.L83V|BANP_ENST00000479780.2_Missense_Mutation_p.L91V|BANP_ENST00000538234.1_Missense_Mutation_p.L91V	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	83					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AAAGCTGGATCTGGTCACGAA	0.527																																						uc002fkr.2		NaN																	0					0						c.(244-246)CTG>GTG		BTG3 associated nuclear protein isoform b							16.0	15.0	16.0					16																	88017774		2198	4296	6494	SO:0001583	missense	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88017774C>G	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.247C>G	16.37:g.88017774C>G	ENSP00000376902:p.Leu83Val					BANP_uc002fkp.2_Missense_Mutation_p.L91V|BANP_uc002fkq.2_Missense_Mutation_p.L91V|BANP_uc010vow.1_Missense_Mutation_p.L90V|BANP_uc002fks.3_Missense_Mutation_p.L90V|BANP_uc002fko.1_Translation_Start_Site|BANP_uc010vov.1_Missense_Mutation_p.L96V	p.L82V	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	4	468	+			83			Potential.		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	c.244C>G	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979804	0.53827	.	.	ENSG00000172530	ENST00000439677;ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000412691;ENST00000355022;ENST00000436970;ENST00000538234;ENST00000436274;ENST00000456902;ENST00000393207	T;T;T;T;T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	4.96	1.53	0.23141	.	0.202640	0.42420	D	0.000709	T	0.38746	0.1052	N	0.19112	0.55	0.33727	D	0.617689	D;D;P;D;P;P	0.71674	0.982;0.998;0.462;0.994;0.597;0.798	D;D;B;D;B;B	0.77557	0.952;0.99;0.067;0.977;0.142;0.384	T	0.49062	-0.8978	10	0.52906	T	0.07	.	8.2795	0.31892	0.0:0.7046:0.0:0.2954	.	91;97;91;83;91;91	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	V	97;83;97;91;91;91;91;91;91;91;91;91;91;83	ENSP00000411479:L97V;ENSP00000286122:L83V;ENSP00000347290:L97V;ENSP00000432508:L91V;ENSP00000376903:L91V;ENSP00000390504:L91V;ENSP00000347125:L91V;ENSP00000399576:L91V;ENSP00000444352:L91V;ENSP00000401454:L91V;ENSP00000410089:L91V;ENSP00000376902:L83V	ENSP00000286122:L83V	L	+	1	2	BANP	86575275	0.999000	0.42202	0.985000	0.45067	0.727000	0.41649	0.972000	0.29409	0.034000	0.15491	0.462000	0.41574	CTG		0.527	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1		NM_017869		4	5	0	0	0	0.000602	0	4	5		
ANKRD11	29123	broad.mit.edu	37	16	89352493	89352493	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:89352493G>A	ENST00000301030.4	-	8	1306	c.846C>T	c.(844-846)ctC>ctT	p.L282L	ANKRD11_ENST00000378330.2_Silent_p.L282L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	282					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCCTAACAGGAGGTTCACCA	0.587																																						uc002fmx.1		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(844-846)CTC>CTT		ankyrin repeat domain 11							163.0	150.0	155.0					16																	89352493		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89352493G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.846C>T	16.37:g.89352493G>A						ANKRD11_uc002fmy.1_Silent_p.L282L|ANKRD11_uc002fnc.1_Silent_p.L282L|ANKRD11_uc002fnb.1_Silent_p.L239L	p.L282L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	8	1307	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	282			ANK 4.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.846C>T	CCDS32513.1																																																																																				0.587	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3		NM_013275		68	74	0	0	0	0.00361	0	68	74		
SMYD4	114826	broad.mit.edu	37	17	1690794	1690794	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:1690794C>G	ENST00000305513.7	-	6	1809	c.1642G>C	c.(1642-1644)Gtg>Ctg	p.V548L		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	548	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						ATGAAGGACACGCTGGTGTTG	0.577																																						uc002ftm.3		NaN																	0				skin(3)|kidney(2)	5						c.(1642-1644)GTG>CTG		SET and MYND domain containing 4							99.0	66.0	77.0					17																	1690794		2203	4300	6503	SO:0001583	missense	114826						zinc ion binding	g.chr17:1690794C>G	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1642G>C	17.37:g.1690794C>G	ENSP00000304360:p.Val548Leu					SMYD4_uc002ftn.1_Missense_Mutation_p.V403L	p.V548L	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN			6	1810	-			548			SET.		Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	ENST00000305513.7	37	c.1642G>C	CCDS11013.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359437	0.24598	.	.	ENSG00000186532	ENST00000305513	D	0.82433	-1.61	5.86	-3.18	0.05186	SET domain (3);	0.553031	0.20799	N	0.085464	T	0.68458	0.3003	L	0.43554	1.36	0.38393	D	0.945444	B	0.19445	0.036	B	0.20184	0.028	T	0.54043	-0.8352	10	0.08381	T	0.77	-3.7446	8.3863	0.32501	0.0:0.4802:0.1797:0.3401	.	548	Q8IYR2	SMYD4_HUMAN	L	548	ENSP00000304360:V548L	ENSP00000304360:V548L	V	-	1	0	SMYD4	1637544	0.000000	0.05858	0.892000	0.35008	0.600000	0.36913	-0.427000	0.06999	-0.292000	0.08999	-0.749000	0.03505	GTG		0.577	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4		XM_056082		3	18	0	0	0	0.004672	0	3	18		
CAMTA2	23125	broad.mit.edu	37	17	4876991	4876991	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:4876991C>T	ENST00000348066.3	-	13	2213	c.2090G>A	c.(2089-2091)tGg>tAg	p.W697*	CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.W702*|CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.W699*|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.W697*|CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.W720*|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000361571.5_Nonsense_Mutation_p.W696*	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	697					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGGACCCTTCCAGGTGGAGCG	0.612																																						uc002gah.1		NaN																	0				ovary(1)	1						c.(2089-2091)TGG>TAG		calmodulin binding transcription activator 2							78.0	73.0	74.0					17																	4876991		2203	4300	6503	SO:0001587	stop_gained	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4876991C>T	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2090G>A	17.37:g.4876991C>T	ENSP00000321813:p.Trp697*					CAMTA2_uc010cku.1_Nonsense_Mutation_p.W720*|CAMTA2_uc002gag.1_Nonsense_Mutation_p.W696*|CAMTA2_uc002gai.1_Nonsense_Mutation_p.W699*|CAMTA2_uc010ckv.1_Nonsense_Mutation_p.W344*	p.W697*	NM_015099	NP_055914	O94983	CMTA2_HUMAN			13	2198	-			697					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Nonsense_Mutation	SNP	ENST00000348066.3	37	c.2090G>A	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	C	39	7.553498	0.98355	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	.	.	.	4.85	4.85	0.62838	.	0.153033	0.46145	D	0.000306	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7909	15.5004	0.75695	0.0:1.0:0.0:0.0	.	.	.	.	X	720;699;696;697;697	.	ENSP00000321813:W697X	W	-	2	0	CAMTA2	4817715	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.782000	0.62396	2.528000	0.85240	0.655000	0.94253	TGG		0.612	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1		NM_015099		17	103	0	0	0	0.012319	0	17	103		
SLC52A1	55065	broad.mit.edu	37	17	4937171	4937171	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:4937171C>G	ENST00000424747.1	-	3	1325	c.613G>C	c.(613-615)Gtc>Ctc	p.V205L	SLC52A1_ENST00000254853.5_Missense_Mutation_p.V205L|SLC52A1_ENST00000512825.2_Missense_Mutation_p.V205L	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	205					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										GCTGAAGTGACCAGAAGGGCA	0.622																																						uc002gap.3		NaN																	0					0						c.(613-615)GTC>CTC		G protein-coupled receptor 172B precursor							73.0	75.0	74.0					17																	4937171		2203	4300	6503	SO:0001583	missense	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4937171C>G	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.613G>C	17.37:g.4937171C>G	ENSP00000399979:p.Val205Leu					GPR172B_uc002gao.3_Missense_Mutation_p.V205L|GPR172B_uc010ckw.2_Missense_Mutation_p.V83L|GPR172B_uc010ckx.2_Missense_Mutation_p.V205L	p.V205L	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN			3	1326	-			205			Helical; (Potential).		B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	ENST00000424747.1	37	c.613G>C	CCDS11066.1	.	.	.	.	.	.	.	.	.	.	C	8.893	0.954470	0.18431	.	.	ENSG00000132517	ENST00000254853;ENST00000512825;ENST00000424747	T;T;T	0.78481	-0.82;-1.18;-0.82	0.95	0.95	0.19572	.	0.499880	0.20098	N	0.099284	T	0.55337	0.1914	N	0.19112	0.55	0.33633	D	0.606276	B;B	0.31910	0.274;0.346	B;B	0.33960	0.173;0.053	T	0.57510	-0.7799	10	0.05436	T	0.98	.	7.7221	0.28738	0.0:1.0:0.0:0.0	.	205;205	F5H5Y1;Q9NWF4	.;RFT_HUMAN	L	205	ENSP00000254853:V205L;ENSP00000443026:V205L;ENSP00000399979:V205L	ENSP00000254853:V205L	V	-	1	0	GPR172B	4877895	0.000000	0.05858	0.124000	0.21820	0.420000	0.31355	-0.242000	0.08928	0.808000	0.34231	0.563000	0.77884	GTC		0.622	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1		NM_017986		30	189	0	0	0	0.004878	0	30	189		
C17orf74	201243	broad.mit.edu	37	17	7330189	7330189	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:7330189C>T	ENST00000333870.3	+	3	953	c.879C>T	c.(877-879)gtC>gtT	p.V293V	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	293						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCTCTTGGGTCCCCGTGGGGC	0.677																																						uc002ggw.2		NaN																	0					0						c.(877-879)GTC>GTT		hypothetical protein LOC201243							28.0	30.0	29.0					17																	7330189		2000	4168	6168	SO:0001819	synonymous_variant	201243					integral to membrane		g.chr17:7330189C>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.879C>T	17.37:g.7330189C>T						FGF11_uc010vtw.1_Intron	p.V293V	NM_175734	NP_783861	Q0P670	CQ074_HUMAN			3	952	+		Prostate(122;0.157)	293						Silent	SNP	ENST00000333870.3	37	c.879C>T	CCDS42255.1																																																																																				0.677	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2		NM_175734		18	102	0	0	0	0.008871	0	18	102		
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:7578275G>A	ENST00000269305.4	-	6	763	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000420246.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*	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	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)	ATAAGATGCTGAGGAGGGGCC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		144	Substitution - Nonsense(95)|Deletion - In frame(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(6)|Unknown(6)|Insertion - Frameshift(1)|Complex - frameshift(1)|Substitution - Missense(1)	p.Q192*(64)|p.0?(7)|p.Q192R(5)|p.A189_V197delAPPQHLIRV(4)|p.Q192H(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.Q192Q(2)|p.P191del(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)	breast(26)|ovary(20)|urinary_tract(15)|lung(12)|upper_aerodigestive_tract(10)|skin(8)|biliary_tract(7)|oesophagus(7)|large_intestine(6)|kidney(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(574-576)CAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							89.0	80.0	83.0					17																	7578275		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578275G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.574C>T	17.37:g.7578275G>A	ENSP00000269305:p.Gln192*	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_Nonsense_Mutation_p.Q192*|TP53_uc002gih.2_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.1_Nonsense_Mutation_p.Q153*	p.Q192*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	768	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	192		Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.574C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269040	0.40095	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	3.36	0.38483	.	0.242461	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.6404	8.6971	0.34303	0.0:0.1484:0.545:0.3066	.	.	.	.	X	192;192;192;192;192;192;181;99;60;99;60	.	ENSP00000269305:Q192X	Q	-	1	0	TP53	7519000	1.000000	0.71417	0.987000	0.45799	0.035000	0.12851	2.163000	0.42377	0.732000	0.32470	0.655000	0.94253	CAG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		87	8	0	0	0	0.00361	0	87	8		
DNAH2	146754	broad.mit.edu	37	17	7696168	7696168	+	Missense_Mutation	SNP	G	G	A	rs374190425		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:7696168G>A	ENST00000572933.1	+	47	8799	c.7339G>A	c.(7339-7341)Gca>Aca	p.A2447T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A2447T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2447	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAACATGTCCGCACAGGTGTG	0.647																																						uc002giu.1		NaN																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(7339-7341)GCA>ACA		dynein heavy chain domain 3							53.0	52.0	52.0					17																	7696168		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7696168G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7339G>A	17.37:g.7696168G>A	ENSP00000458355:p.Ala2447Thr						p.A2447T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			46	7353	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2447			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7339G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293908	0.81025	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.17370	2.28	4.94	4.94	0.65067	ATPase, AAA+ type, core (1);	0.144828	0.46758	D	0.000277	T	0.53562	0.1804	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.66984	-0.5785	10	0.59425	D	0.04	.	17.0918	0.86624	0.0:0.0:1.0:0.0	.	2447	Q9P225	DYH2_HUMAN	T	2447	ENSP00000373825:A2447T	ENSP00000353818:A2447T	A	+	1	0	DNAH2	7636893	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.975000	0.49281	2.568000	0.86640	0.637000	0.83480	GCA		0.647	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		4	167	0	0	0	0.000602	0	4	167		
PER1	5187	broad.mit.edu	37	17	8045717	8045717	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:8045717C>T	ENST00000317276.4	-	21	3556	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K	PER1_ENST00000581082.1_Missense_Mutation_p.E1084K|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1107					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						gccccagcctcagcctcggAA	0.622			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.2		NaN		Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		0				lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(3319-3321)GAG>AAG	Other_conserved_DNA_damage_response_genes	period 1							37.0	40.0	39.0					17																	8045717		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8045717C>T	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3319G>A	17.37:g.8045717C>T	ENSP00000314420:p.Glu1107Lys					PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_RNA	p.E1107K	NM_002616	NP_002607	O15534	PER1_HUMAN			21	3557	-			1107					B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.3319G>A	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689351	0.88735	.	.	ENSG00000179094	ENST00000317276	T	0.14144	2.53	5.84	5.84	0.93424	Period circadian-like, C-terminal (1);	0.158688	0.56097	D	0.000032	T	0.13713	0.0332	N	0.14661	0.345	0.80722	D	1	P	0.44195	0.828	P	0.47251	0.542	T	0.10086	-1.0645	10	0.30078	T	0.28	-21.325	17.6318	0.88111	0.0:1.0:0.0:0.0	.	1107	O15534	PER1_HUMAN	K	1107	ENSP00000314420:E1107K	ENSP00000314420:E1107K	E	-	1	0	PER1	7986442	0.994000	0.37717	0.995000	0.50966	0.968000	0.65278	3.007000	0.49536	2.779000	0.95612	0.655000	0.94253	GAG		0.622	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2				30	1	0	0	0	0.012213	0	30	1		
PER1	5187	broad.mit.edu	37	17	8048196	8048196	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:8048196C>G	ENST00000317276.4	-	18	2571	c.2334G>C	c.(2332-2334)ctG>ctC	p.L778L	PER1_ENST00000581082.1_Silent_p.L758L|PER1_ENST00000354903.5_Silent_p.L762L|PER1_ENST00000578089.1_Intron	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	778	Required for phosphorylation by CSNK1E. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGCCTTGGTCAGCCCCACTG	0.682			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.2		NaN		Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		0				lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(2332-2334)CTG>CTC	Other_conserved_DNA_damage_response_genes	period 1							32.0	24.0	27.0					17																	8048196		2201	4300	6501	SO:0001819	synonymous_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8048196C>G	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2334G>C	17.37:g.8048196C>G						PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Silent_p.L762L	p.L778L	NM_002616	NP_002607	O15534	PER1_HUMAN			18	2572	-			778			CSNK1E binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	c.2334G>C	CCDS11131.1																																																																																				0.682	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2				19	2	0	0	0	0.008871	0	19	2		
RCVRN	5957	broad.mit.edu	37	17	9808346	9808346	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:9808346C>T	ENST00000226193.5	-	1	592	c.152G>A	c.(151-153)aGc>aAc	p.S51N		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	51	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGCGTAGATGCTCTGGAACTG	0.602																																						uc002gme.1		NaN																	0					0						c.(151-153)AGC>AAC		recoverin							113.0	83.0	94.0					17																	9808346		2203	4300	6503	SO:0001583	missense	5957				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr17:9808346C>T	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.152G>A	17.37:g.9808346C>T	ENSP00000226193:p.Ser51Asn						p.S51N	NM_002903	NP_002894	P35243	RECO_HUMAN			1	339	-			51			EF-hand 1.		Q53XL0	Missense_Mutation	SNP	ENST00000226193.5	37	c.152G>A	CCDS11151.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524393	0.44969	.	.	ENSG00000109047	ENST00000226193	T	0.78707	-1.2	4.87	2.86	0.33363	EF-hand-like domain (1);	0.245370	0.49916	D	0.000130	T	0.67040	0.2851	L	0.41710	1.295	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61941	-0.6959	10	0.62326	D	0.03	.	8.6114	0.33804	0.0:0.751:0.1614:0.0876	.	51	P35243	RECO_HUMAN	N	51	ENSP00000226193:S51N	ENSP00000226193:S51N	S	-	2	0	RCVRN	9749071	0.993000	0.37304	0.988000	0.46212	0.947000	0.59692	1.262000	0.32992	0.571000	0.29365	-0.137000	0.14449	AGC		0.602	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2		NM_002903		6	12	0	0	0	0.001984	0	6	12		
SUPT6H	6830	broad.mit.edu	37	17	27011877	27011877	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:27011877C>G	ENST00000314616.6	+	19	2668	c.2385C>G	c.(2383-2385)ttC>ttG	p.F795L	SUPT6H_ENST00000347486.4_Missense_Mutation_p.F795L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	795	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACCCTGTGTTCTGCGCCCTGG	0.443																																						uc002hby.2		NaN																	0				ovary(2)|skin(1)	3						c.(2383-2385)TTC>TTG		suppressor of Ty 6 homolog							100.0	92.0	95.0					17																	27011877		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27011877C>G	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2385C>G	17.37:g.27011877C>G	ENSP00000319104:p.Phe795Leu					SUPT6H_uc010crt.2_Missense_Mutation_p.F795L	p.F795L	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			19	2475	+	Lung NSC(42;0.00431)		795					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.2385C>G	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059262	0.55325	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.4	4.42	0.53409	YqgF/RNase H-like domain (1);	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	M	0.69463	2.115	0.80722	D	1	P	0.35411	0.5	B	0.32980	0.156	T	0.52056	-0.8626	9	0.39692	T	0.17	-13.2979	7.7755	0.29035	0.0:0.8241:0.0:0.1759	.	795	Q7KZ85	SPT6H_HUMAN	L	795	.	ENSP00000319104:F795L	F	+	3	2	SUPT6H	24036004	0.999000	0.42202	1.000000	0.80357	0.951000	0.60555	0.727000	0.25999	2.705000	0.92388	0.650000	0.86243	TTC		0.443	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2		NM_003170		93	42	0	0	0	0.00361	0	93	42		
ZNF207	7756	broad.mit.edu	37	17	30678846	30678846	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:30678846A>G	ENST00000321233.6	+	2	237	c.83A>G	c.(82-84)cAg>cGg	p.Q28R	MIR632_ENST00000385193.1_RNA|ZNF207_ENST00000394670.4_Missense_Mutation_p.Q28R|ZNF207_ENST00000341711.6_Missense_Mutation_p.Q28R|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000577908.1_Missense_Mutation_p.Q28R|ZNF207_ENST00000342555.6_Missense_Mutation_p.Q31R|ZNF207_ENST00000394673.2_Missense_Mutation_p.Q28R	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	28	Microtubule-binding region.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ATCCTTATTCAGCACCAAAAA	0.343																																						uc002hhh.3		NaN																	0					0						c.(82-84)CAG>CGG		zinc finger protein 207 isoform a							108.0	103.0	105.0					17																	30678846		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30678846A>G	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.83A>G	17.37:g.30678846A>G	ENSP00000322777:p.Gln28Arg					ZNF207_uc002hhj.3_Missense_Mutation_p.Q28R|ZNF207_uc002hhi.3_Missense_Mutation_p.Q28R|ZNF207_uc010csz.2_Missense_Mutation_p.Q31R|ZNF207_uc002hhk.1_Missense_Mutation_p.Q28R	p.Q28R	NM_003457	NP_003448	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		2	231	+		Breast(31;0.116)|Ovarian(249;0.182)	28			C2H2-type 1.		A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.83A>G	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982631	0.74474	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	L	0.56280	1.765	0.48571	D	0.999673	B;B;B;B;B	0.30281	0.275;0.275;0.275;0.275;0.275	B;B;B;B;B	0.24848	0.056;0.056;0.056;0.056;0.056	T	0.53767	-0.8392	10	0.72032	D	0.01	.	14.9126	0.70770	1.0:0.0:0.0:0.0	.	28;31;28;28;28	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	R	28;28;31;28;28;28	ENSP00000378165:Q28R;ENSP00000378168:Q28R;ENSP00000322777:Q28R;ENSP00000344913:Q28R	ENSP00000322777:Q28R	Q	+	2	0	ZNF207	27702959	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	1.991000	0.58162	0.533000	0.62120	CAG		0.343	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2				38	47	0	0	0	0.007835	0	38	47		
GGNBP2	79893	broad.mit.edu	37	17	34937963	34937963	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:34937963G>A	ENST00000304718.4	+	9	1526	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	404					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGTAAGCCAAGAGAAGGTAAT	0.398																																						uc002hnb.2		NaN																	0				ovary(2)	2						c.(1210-1212)GAG>AAG		zinc finger protein 403							89.0	82.0	85.0					17																	34937963		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34937963G>A	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1210G>A	17.37:g.34937963G>A	ENSP00000307617:p.Glu404Lys					GGNBP2_uc002hna.2_Missense_Mutation_p.E404K|GGNBP2_uc002hnc.1_Missense_Mutation_p.E233K	p.E404K	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	9	1459	+		Breast(25;0.00957)|Ovarian(249;0.17)	404					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.1210G>A	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714790	0.48622	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.72	4.75	0.60458	.	0.324703	0.32769	N	0.005662	T	0.25005	0.0607	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.10428	-1.0630	9	0.07813	T	0.8	-8.2877	10.4339	0.44424	0.1469:0.0:0.8531:0.0	.	404;404;404	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	K	404	.	ENSP00000307617:E404K	E	+	1	0	GGNBP2	32012076	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	6.011000	0.70760	1.420000	0.47138	0.561000	0.74099	GAG		0.398	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2		NM_024835		22	35	0	0	0	0.004656	0	22	35		
MLLT6	4302	broad.mit.edu	37	17	36875796	36875796	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:36875796C>T	ENST00000325718.7	+	13	2060	c.1969C>T	c.(1969-1971)Cgg>Tgg	p.R657W	CTB-58E17.9_ENST00000579499.1_RNA|MIR4726_ENST00000577947.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	657					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CTGCAGCTTCCGGTGTCGGGG	0.657			T	MLL	AL																																	uc002hqi.3		NaN		Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|prostate(1)|lung(1)|skin(1)	6						c.(1969-1971)CGG>TGG		myeloid/lymphoid or mixed-lineage leukemia							28.0	27.0	27.0					17																	36875796		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36875796C>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1969C>T	17.37:g.36875796C>T	ENSP00000316426:p.Arg657Trp					MLLT6_uc002hqj.2_Missense_Mutation_p.R92W|MLLT6_uc002hqk.3_5'UTR	p.R657W	NM_005937	NP_005928	P55198	AF17_HUMAN			13	1982	+	Breast(7;4.43e-21)		657					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.1969C>T	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062468	0.76187	.	.	ENSG00000108292	ENST00000325718	T	0.10573	2.86	4.8	2.5	0.30297	.	0.429878	0.23686	N	0.045574	T	0.06462	0.0166	N	0.22421	0.69	0.40699	D	0.982466	D;P	0.60160	0.987;0.83	B;B	0.40101	0.319;0.109	T	0.36335	-0.9752	10	0.48119	T	0.1	.	7.6566	0.28379	0.1406:0.4824:0.377:0.0	.	111;657	Q96I32;P55198	.;AF17_HUMAN	W	657	ENSP00000316426:R657W	ENSP00000316426:R657W	R	+	1	2	MLLT6	34129322	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	0.823000	0.27366	1.125000	0.41998	-0.314000	0.08810	CGG		0.657	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1		NM_005937		16	35	0	0	0	0.010504	0	16	35		
TCAP	8557	broad.mit.edu	37	17	37822334	37822334	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:37822334C>T	ENST00000309889.2	+	2	1649	c.476C>T	c.(475-477)tCc>tTc	p.S159F	PNMT_ENST00000394246.1_5'Flank|PNMT_ENST00000581428.1_5'Flank|TCAP_ENST00000578283.1_Missense_Mutation_p.S135F|PNMT_ENST00000269582.2_5'Flank			O15273	TELT_HUMAN	titin-cap	159					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGTCCCGCTCCATGTCCCAG	0.657																																						uc002hsh.2		NaN																	0					0						c.(475-477)TCC>TTC		telethonin							60.0	56.0	57.0					17																	37822334		2185	4269	6454	SO:0001583	missense	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37822334C>T	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"""19 kDa sarcomeric protein"""	604488	"""limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)"""	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.476C>T	17.37:g.37822334C>T	ENSP00000312624:p.Ser159Phe					PNMT_uc002hsi.1_5'Flank	p.S159F	NM_003673	NP_003664	O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	490	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		159					Q96L27	Missense_Mutation	SNP	ENST00000309889.2	37	c.476C>T	CCDS11342.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948148	0.53186	.	.	ENSG00000173991	ENST00000309889	D	0.87729	-2.29	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.88858	0.6551	N	0.19112	0.55	0.80722	D	1	D	0.62365	0.991	D	0.65443	0.935	D	0.90560	0.4515	10	0.87932	D	0	-38.9702	19.1745	0.93599	0.0:1.0:0.0:0.0	.	159	O15273	TELT_HUMAN	F	159	ENSP00000312624:S159F	ENSP00000312624:S159F	S	+	2	0	TCAP	35075860	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.694000	0.74587	2.631000	0.89168	0.313000	0.20887	TCC		0.657	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1		NM_003673		129	166	0	0	0	0.00361	0	129	166		
GSDMA	284110	broad.mit.edu	37	17	38130640	38130640	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:38130640T>G	ENST00000301659.4	+	9	984	c.866T>G	c.(865-867)cTt>cGt	p.L289R		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	289					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CTCAGCAAACTTCTAGGGAAG	0.512																																						uc002htl.1		NaN																	0					0						c.(865-867)CTT>CGT		gasdermin 1							34.0	33.0	34.0					17																	38130640		1880	4109	5989	SO:0001583	missense	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38130640T>G	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.866T>G	17.37:g.38130640T>G	ENSP00000301659:p.Leu289Arg					GSDMA_uc002htm.1_Missense_Mutation_p.L289R	p.L289R	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN			9	984	+			289					Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	ENST00000301659.4	37	c.866T>G	CCDS45669.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282603	0.80692	.	.	ENSG00000167914	ENST00000301659	T	0.26373	1.74	5.9	5.9	0.94986	.	0.522515	0.17805	N	0.161421	T	0.50752	0.1634	M	0.73598	2.24	0.36527	D	0.870506	D	0.76494	0.999	D	0.74348	0.983	T	0.60964	-0.7158	10	0.72032	D	0.01	-12.8084	12.7114	0.57092	0.0:0.0:0.0:1.0	.	289	Q96QA5	GSDMA_HUMAN	R	289	ENSP00000301659:L289R	ENSP00000301659:L289R	L	+	2	0	GSDMA	35384166	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	3.640000	0.54350	2.248000	0.74166	0.459000	0.35465	CTT		0.512	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1		NM_178171		3	20	0	0	0	0.004672	0	3	20		
KLHL10	317719	broad.mit.edu	37	17	40004197	40004197	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:40004197G>C	ENST00000293303.4	+	5	1618	c.1465G>C	c.(1465-1467)Gat>Cat	p.D489H	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	489					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AGGTGGCTTTGATGGAGCTAA	0.483																																						uc010cxr.2		NaN																	0				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(1465-1467)GAT>CAT		kelch-like 10							108.0	103.0	105.0					17																	40004197		1932	4147	6079	SO:0001583	missense	317719					cytoplasm		g.chr17:40004197G>C	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1465G>C	17.37:g.40004197G>C	ENSP00000293303:p.Asp489His					KLHL10_uc010wfw.1_Missense_Mutation_p.D401H	p.D489H	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN			5	1607	+		Breast(137;0.000162)	489			Kelch 5.		Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.1465G>C	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777867	0.70107	.	.	ENSG00000161594	ENST00000293303	T	0.80566	-1.39	5.84	5.84	0.93424	Galactose oxidase, beta-propeller (1);	0.200289	0.53938	D	0.000052	D	0.91429	0.7295	M	0.89414	3.03	0.53688	D	0.999973	D	0.89917	1.0	D	0.75020	0.985	D	0.91945	0.5566	9	.	.	.	.	18.6933	0.91592	0.0:0.0:1.0:0.0	.	489	Q6JEL2	KLH10_HUMAN	H	489	ENSP00000293303:D489H	.	D	+	1	0	KLHL10	37257723	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	4.561000	0.60809	2.758000	0.94735	0.591000	0.81541	GAT		0.483	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1		NM_152467		86	113	0	0	0	0.00361	0	86	113		
EFCAB3	146779	broad.mit.edu	37	17	60493508	60493508	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:60493508A>G	ENST00000305286.3	+	10	1213	c.1135A>G	c.(1135-1137)Aca>Gca	p.T379A	EFCAB3_ENST00000450662.2_Missense_Mutation_p.T431A	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	379							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TTCTACTTATACATGGTCCTG	0.408																																						uc002izu.1		NaN																	0				skin(1)	1						c.(1135-1137)ACA>GCA		EF-hand calcium binding domain 3 isoform b							92.0	95.0	94.0					17																	60493508		2203	4300	6503	SO:0001583	missense	146779						calcium ion binding	g.chr17:60493508A>G	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.1135A>G	17.37:g.60493508A>G	ENSP00000302649:p.Thr379Ala					EFCAB3_uc010wpc.1_Missense_Mutation_p.T431A	p.T379A	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		10	1213	+			379					J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	c.1135A>G	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.467991	0.63625	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.64085	-0.08;-0.02	4.94	3.82	0.43975	.	0.293906	0.29775	N	0.011239	T	0.59998	0.2235	M	0.67953	2.075	0.29708	N	0.839659	P	0.51791	0.948	P	0.44696	0.458	T	0.63377	-0.6651	10	0.72032	D	0.01	.	7.6562	0.28377	0.6593:0.0:0.0:0.3407	.	379	Q8N7B9	EFCB3_HUMAN	A	431;379	ENSP00000403932:T431A;ENSP00000302649:T379A	ENSP00000302649:T379A	T	+	1	0	EFCAB3	57847240	0.650000	0.27331	0.985000	0.45067	0.984000	0.73092	1.437000	0.34991	0.958000	0.37956	0.454000	0.30748	ACA		0.408	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1		NM_173503		46	54	0	0	0	0.00361	0	46	54		
TACO1	51204	broad.mit.edu	37	17	61678640	61678640	+	Silent	SNP	C	C	T	rs141350830		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:61678640C>T	ENST00000258975.6	+	1	410	c.198C>T	c.(196-198)gtC>gtT	p.V66V		NM_016360.3	NP_057444.2	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially encoded cytochrome c oxidase I	66					regulation of translation (GO:0006417)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)	4						GGTCCAAAGTCAGGCACATCA	0.637																																						uc002jbd.2		NaN																	0					0						c.(196-198)GTC>GTT		translational activator of mitochondrially							29.0	23.0	25.0					17																	61678640		2199	4289	6488	SO:0001819	synonymous_variant	51204				regulation of translation	mitochondrion		g.chr17:61678640C>T	BC005049	CCDS11640.1	17q23.3	2009-06-26	2009-06-26	2009-06-26		ENSG00000136463			24316	protein-coding gene	gene with protein product		612958	"""coiled-coil domain containing 44"""	CCDC44		19503089	Standard	NM_016360		Approved		uc002jbd.3	Q9BSH4		ENST00000258975.6:c.198C>T	17.37:g.61678640C>T							p.V66V	NM_016360	NP_057444	Q9BSH4	TACO1_HUMAN			1	398	+			66					B2RD21|Q8N3N6|Q9UI60	Silent	SNP	ENST00000258975.6	37	c.198C>T	CCDS11640.1																																																																																				0.637	TACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443862.1		NM_016360		25	36	0	0	0	0.00632	0	25	36		
SMURF2	64750	broad.mit.edu	37	17	62543775	62543775	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:62543775G>C	ENST00000262435.9	-	17	2201	c.2014C>G	c.(2014-2016)Ctt>Gtt	p.L672V		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	672	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ACAAACTGAAGCAATCTTGCT	0.517																																						uc002jep.1		NaN																	0				skin(3)|lung(1)	4						c.(2014-2016)CTT>GTT		SMAD specific E3 ubiquitin protein ligase 2							145.0	133.0	137.0					17																	62543775		2203	4300	6503	SO:0001583	missense	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62543775G>C	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.2014C>G	17.37:g.62543775G>C	ENSP00000262435:p.Leu672Val					SMURF2_uc002jeq.1_Missense_Mutation_p.L431V|SMURF2_uc002jer.1_Missense_Mutation_p.L431V	p.L672V	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		17	2402	-	Breast(5;1.32e-14)		672			HECT.		Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	c.2014C>G	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615258	0.87359	.	.	ENSG00000108854	ENST00000262435	T	0.72394	-0.65	5.89	5.89	0.94794	HECT (4);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.90977	3.165	0.80722	D	1	B	0.34399	0.452	P	0.46208	0.507	D	0.85743	0.1338	10	0.87932	D	0	.	20.2566	0.98424	0.0:0.0:1.0:0.0	.	672	Q9HAU4	SMUF2_HUMAN	V	672	ENSP00000262435:L672V	ENSP00000262435:L672V	L	-	1	0	SMURF2	59974237	1.000000	0.71417	0.992000	0.48379	0.959000	0.62525	7.782000	0.85680	2.793000	0.96121	0.561000	0.74099	CTT		0.517	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1		NM_022739		101	106	0	0	0	0.00361	0	101	106		
FAM20A	54757	broad.mit.edu	37	17	66535515	66535515	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:66535515C>T	ENST00000592554.1	-	10	2046	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	442					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					ATGGAGATTTCATCATGGGAG	0.527																																						uc002jho.2		NaN																	0					0						c.(1324-1326)GAA>AAA		family with sequence similarity 20, member A							144.0	127.0	133.0					17																	66535515		2203	4300	6503	SO:0001583	missense	54757					extracellular region		g.chr17:66535515C>T	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1324G>A	17.37:g.66535515C>T	ENSP00000468308:p.Glu442Lys					FAM20A_uc010wqp.1_Missense_Mutation_p.E304K|PRKAR1A_uc002jhm.2_Intron|FAM20A_uc002jhn.2_Missense_Mutation_p.E153K	p.E442K	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN			10	1612	-	Breast(10;1.64e-13)		442					B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	c.1324G>A	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	C	36	5.649338	0.96714	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.85826	0.5787	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	D	0.87098	0.2177	9	0.72032	D	0.01	-24.5678	20.3437	0.98782	0.0:1.0:0.0:0.0	.	442;304	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	K	442;46	.	ENSP00000226094:E442K	E	-	1	0	FAM20A	64047110	1.000000	0.71417	0.220000	0.23810	0.894000	0.52154	7.476000	0.81055	2.815000	0.96918	0.561000	0.74099	GAA		0.527	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2		NM_017565		36	159	0	0	0	0.00361	0	36	159		
SDK2	54549	broad.mit.edu	37	17	71391400	71391400	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:71391400G>A	ENST00000392650.3	-	25	3486	c.3486C>T	c.(3484-3486)atC>atT	p.I1162I	SDK2_ENST00000388726.3_Silent_p.I1162I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1162	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCAGGTCCTCGATGGTGTAGT	0.652																																						uc010dfm.2		NaN																	0				ovary(2)	2						c.(3484-3486)ATC>ATT		sidekick 2							82.0	62.0	69.0					17																	71391400		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71391400G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3486C>T	17.37:g.71391400G>A						SDK2_uc002jjt.3_Silent_p.I321I|SDK2_uc010dfn.2_Silent_p.I841I	p.I1162I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			25	3486	-			1162			Extracellular (Potential).|Fibronectin type-III 6.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.3486C>T	CCDS45769.1																																																																																				0.652	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2		NM_019064		11	59	0	0	0	0.010729	0	11	59		
FDXR	2232	broad.mit.edu	37	17	72860373	72860373	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:72860373G>A	ENST00000293195.5	-	9	977	c.899C>T	c.(898-900)tCc>tTc	p.S300F	FDXR_ENST00000581530.1_Missense_Mutation_p.S306F|FDXR_ENST00000582944.1_Missense_Mutation_p.S292F|FDXR_ENST00000420580.2_Missense_Mutation_p.S260F|FDXR_ENST00000583917.1_Missense_Mutation_p.S272F|FDXR_ENST00000442102.2_Missense_Mutation_p.S343F|FDXR_ENST00000455107.2_Missense_Mutation_p.S256F|FDXR_ENST00000544854.1_Missense_Mutation_p.S248F|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000413947.2_Missense_Mutation_p.S331F|FDXR_ENST00000581969.1_5'Flank	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	300					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	CCAGGCACGGGAGGCCGATGC	0.692																																						uc002jly.2		NaN																	0					0						c.(898-900)TCC>TTC		ferredoxin reductase isoform 1 precursor							17.0	22.0	20.0					17																	72860373		2187	4275	6462	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72860373G>A	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.899C>T	17.37:g.72860373G>A	ENSP00000293195:p.Ser300Phe					FDXR_uc010wri.1_Missense_Mutation_p.S248F|FDXR_uc010wrj.1_Missense_Mutation_p.S298F|FDXR_uc002jlw.2_Missense_Mutation_p.S57F|FDXR_uc002jlx.2_Missense_Mutation_p.S306F|FDXR_uc002jmc.2_Missense_Mutation_p.S272F|FDXR_uc010wrk.1_Missense_Mutation_p.S331F|FDXR_uc010wrl.1_Missense_Mutation_p.S343F|FDXR_uc002jma.2_Missense_Mutation_p.S301F|FDXR_uc010wrm.1_Missense_Mutation_p.S260F|FDXR_uc002jlz.2_Missense_Mutation_p.S292F|FDXR_uc002jmb.2_RNA	p.S300F	NM_024417	NP_077728	P22570	ADRO_HUMAN			9	986	-	all_lung(278;0.172)|Lung NSC(278;0.207)		300					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.899C>T	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818771	0.32145	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.36878	1.23;1.23;2.66;1.23;1.23	4.58	4.58	0.56647	.	0.434068	0.25487	N	0.030332	T	0.48429	0.1499	M	0.68952	2.095	0.45621	D	0.998557	D;B;B;D;B;B;B;D;B;B	0.60575	0.966;0.14;0.107;0.988;0.067;0.075;0.075;0.988;0.075;0.171	P;B;B;P;B;B;B;P;B;B	0.53593	0.73;0.077;0.014;0.635;0.032;0.014;0.021;0.635;0.021;0.051	T	0.52298	-0.8594	10	0.62326	D	0.03	-10.7978	12.1547	0.54070	0.0:0.0:0.8287:0.1713	.	260;343;331;298;248;331;300;292;300;306	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	F	260;248;306;256;343;331	ENSP00000414172:S260F;ENSP00000445432:S248F;ENSP00000390875:S256F;ENSP00000416515:S343F;ENSP00000408595:S331F	ENSP00000293195:S306F	S	-	2	0	FDXR	70371968	1.000000	0.71417	0.965000	0.40720	0.216000	0.24613	4.636000	0.61339	2.108000	0.64289	0.561000	0.74099	TCC		0.692	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1		NM_004110		35	41	0	0	0	0.00623	0	35	41		
CDK3	1018	broad.mit.edu	37	17	73998377	73998377	+	Missense_Mutation	SNP	C	C	T	rs201685548		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:73998377C>T	ENST00000425876.2	+	4	452	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	CDK3_ENST00000448471.1_Missense_Mutation_p.R122W|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)	1						CCACTCACATCGGGTCATCCA	0.627																																						uc010dgt.2		NaN																	0				central_nervous_system(1)	1						c.(364-366)CGG>TGG		cyclin-dependent kinase 3							69.0	60.0	63.0					17																	73998377		2203	4300	6503	SO:0001583	missense	1018				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity	g.chr17:73998377C>T	X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.364C>T	17.37:g.73998377C>T	ENSP00000410561:p.Arg122Trp					CDK3_uc002jqg.3_Missense_Mutation_p.R150W	p.R122W	NM_001258	NP_001249	Q00526	CDK3_HUMAN			5	440	+			122			Protein kinase.			Missense_Mutation	SNP	ENST00000425876.2	37	c.364C>T	CCDS11736.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.893926	0.72639	.	.	ENSG00000250506	ENST00000448471;ENST00000425876	T;T	0.45668	0.89;0.89	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000099	T	0.52948	0.1766	L	0.35288	1.05	0.43662	D	0.996089	D	0.89917	1.0	D	0.97110	1.0	T	0.55630	-0.8111	10	0.87932	D	0	-15.2982	13.3302	0.60483	0.1683:0.8317:0.0:0.0	.	122	Q00526	CDK3_HUMAN	W	122	ENSP00000400088:R122W;ENSP00000410561:R122W	ENSP00000410561:R122W	R	+	1	2	CDK3	71509972	0.999000	0.42202	0.989000	0.46669	0.990000	0.78478	4.080000	0.57620	2.432000	0.82394	0.555000	0.69702	CGG		0.627	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2		NM_001258		77	82	0	0	0	0.00361	0	77	82		
UBE2O	63893	broad.mit.edu	37	17	74396299	74396299	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:74396299C>T	ENST00000319380.7	-	8	1148	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	362					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTGGCTGGCTCTACCTTGGCT	0.582																																						uc002jrm.3		NaN																	0				breast(2)|skin(2)|lung(1)	5						c.(1084-1086)GAG>AAG		ubiquitin-conjugating enzyme E2O							57.0	56.0	56.0					17																	74396299		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74396299C>T	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1084G>A	17.37:g.74396299C>T	ENSP00000323687:p.Glu362Lys					UBE2O_uc002jrn.3_Missense_Mutation_p.E362K|UBE2O_uc002jrl.3_5'Flank	p.E362K	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			8	1149	-			362					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.1084G>A	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181824	0.94885	.	.	ENSG00000175931	ENST00000319380	T	0.75367	-0.93	4.96	4.96	0.65561	.	0.181566	0.41194	D	0.000934	T	0.68677	0.3027	L	0.43152	1.355	0.50467	D	0.999876	P	0.46987	0.888	B	0.41374	0.355	T	0.68108	-0.5496	10	0.26408	T	0.33	-31.2462	18.2061	0.89854	0.0:1.0:0.0:0.0	.	362	Q9C0C9	UBE2O_HUMAN	K	362	ENSP00000323687:E362K	ENSP00000323687:E362K	E	-	1	0	UBE2O	71907894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.763000	0.68818	2.314000	0.78098	0.561000	0.74099	GAG		0.582	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1		NM_022066		53	84	0	0	0	0.00361	0	53	84		
NPTX1	4884	broad.mit.edu	37	17	78449360	78449360	+	Silent	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:78449360G>T	ENST00000306773.4	-	2	760	c.603C>A	c.(601-603)atC>atA	p.I201I	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	201					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GGGCGGTCTCGATCTTGACCC	0.667																																						uc002jyp.1		NaN																	0					0						c.(601-603)ATC>ATA		neuronal pentraxin I precursor							53.0	40.0	44.0					17																	78449360		2201	4300	6501	SO:0001819	synonymous_variant	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78449360G>T	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.603C>A	17.37:g.78449360G>T							p.I201I	NM_002522	NP_002513	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		2	761	-	all_neural(118;0.0538)		201					B3KXH3|Q5FWE6	Silent	SNP	ENST00000306773.4	37	c.603C>A	CCDS32762.1																																																																																				0.667	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1				32	53	1	0	1.90571e-15	0.004289	2.01907e-15	32	53		
TMEM105	284186	broad.mit.edu	37	17	79287597	79287597	+	Nonsense_Mutation	SNP	G	G	A	rs200357228		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:79287597G>A	ENST00000332900.1	-	3	793	c.244C>T	c.(244-246)Cga>Tga	p.R82*		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	82						integral component of membrane (GO:0016021)				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			TCATGTCTTCGCCTTCTTATC	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14061	0.0		0.0	False		,,,				2504	0.0					uc002kad.1		NaN																	0				ovary(1)	1						c.(244-246)CGA>TGA		transmembrane protein 105		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	55.0	64.0	61.0		244	-1.8	0.0	17		61	0,8600		0,0,4300	yes	stop-gained	TMEM105	NM_178520.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		82/130	79287597	1,13005	2203	4300	6503	SO:0001587	stop_gained	284186					integral to membrane		g.chr17:79287597G>A	AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.244C>T	17.37:g.79287597G>A	ENSP00000329795:p.Arg82*						p.R82*	NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)		3	794	-	all_neural(118;0.0804)|Melanoma(429;0.242)		82						Nonsense_Mutation	SNP	ENST00000332900.1	37	c.244C>T	CCDS11781.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.458	0.854686	0.17106	2.27E-4	0.0	ENSG00000185332	ENST00000332900	.	.	.	0.96	-1.77	0.07982	.	.	.	.	.	.	.	.	.	.	.	0.46499	D	0.99907	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.6755	0.08290	0.19:0.0:0.577:0.233	.	.	.	.	X	82	.	ENSP00000329795:R82X	R	-	1	2	TMEM105	76902192	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.009000	0.00314	-2.352000	0.00616	-3.874000	0.00017	CGA		0.662	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439607.1		NM_178520		133	116	0	0	0	0.00361	0	133	116		
CEP192	55125	broad.mit.edu	37	18	13092445	13092445	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:13092445C>T	ENST00000325971.8	+	32	5978	c.4385C>T	c.(4384-4386)tCa>tTa	p.S1462L	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.S1583L|CEP192_ENST00000506447.1_Missense_Mutation_p.S2058L			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1462					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.S2058L(1)|p.S1462L(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATTATACTTTCAGTAATTGGA	0.333																																						uc010xac.1		NaN																	2	Substitution - Missense(2)		cervix(2)	ovary(4)|pancreas(1)	5						c.(6172-6174)TCA>TTA		centrosomal protein 192kDa							81.0	84.0	83.0					18																	13092445		2202	4299	6501	SO:0001583	missense	55125							g.chr18:13092445C>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4385C>T	18.37:g.13092445C>T	ENSP00000317156:p.Ser1462Leu					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S1583L|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.S480L|CEP192_uc002krw.2_Missense_Mutation_p.S207L|CEP192_uc002krx.2_Missense_Mutation_p.S62L|CEP192_uc002kry.2_RNA	p.S2058L	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			34	6253	+			2058					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6173C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.425204	0.96131	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.39997	1.05;1.05;1.05	5.79	5.79	0.91817	.	0.137856	0.49916	D	0.000129	T	0.63546	0.2520	M	0.72894	2.215	0.58432	D	0.999998	D;D;D;D	0.69078	0.992;0.995;0.997;0.977	P;D;D;P	0.63793	0.856;0.918;0.913;0.73	T	0.65483	-0.6157	10	0.87932	D	0	-16.3192	17.8228	0.88655	0.0:1.0:0.0:0.0	.	1583;2058;62;660	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	L	2058;1462;1462;1583;62	ENSP00000427550:S2058L;ENSP00000317156:S1462L;ENSP00000389190:S1583L	ENSP00000317156:S1462L	S	+	2	0	CEP192	13082445	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.366000	0.59492	2.753000	0.94483	0.557000	0.71058	TCA		0.333	CEP192-201	KNOWN	basic	protein_coding	protein_coding			NM_032142		12	49	0	0	0	0.010729	0	12	49		
ROCK1	6093	broad.mit.edu	37	18	18625257	18625257	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:18625257G>A	ENST00000399799.2	-	5	1526	c.586C>T	c.(586-588)Cac>Tac	p.H196Y		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTTTACCTGTGAATAAAACCC	0.343																																						uc002kte.2		NaN																	0				lung(2)|breast(2)|central_nervous_system(1)	5						c.(586-588)CAC>TAC		Rho-associated, coiled-coil containing protein							84.0	82.0	83.0					18																	18625257		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18625257G>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.586C>T	18.37:g.18625257G>A	ENSP00000382697:p.His196Tyr						p.H196Y	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			5	1527	-	Melanoma(1;0.165)		196			Protein kinase.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.586C>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945240	0.92593	.	.	ENSG00000067900	ENST00000399799	T	0.63096	-0.02	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	L	0.48174	1.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77070	-0.2724	10	0.87932	D	0	.	18.9797	0.92751	0.0:0.0:1.0:0.0	.	196	Q13464	ROCK1_HUMAN	Y	196	ENSP00000382697:H196Y	ENSP00000382697:H196Y	H	-	1	0	ROCK1	16879255	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.536000	0.98067	2.696000	0.92011	0.655000	0.94253	CAC		0.343	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2		NM_005406		6	31	0	0	0	0.00308	0	6	31		
ZNF521	25925	broad.mit.edu	37	18	22806745	22806745	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:22806745C>T	ENST00000361524.3	-	4	1285	c.1137G>A	c.(1135-1137)aaG>aaA	p.K379K	ZNF521_ENST00000584787.1_Silent_p.K159K|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.K379K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	379					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.K379N(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCCCTCGACTCTTTGGGATTG	0.532			T	PAX5	ALL																																	uc002kvk.2		NaN		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(1135-1137)AAG>AAA		zinc finger protein 521							72.0	71.0	71.0					18																	22806745		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806745C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1137G>A	18.37:g.22806745C>T						ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.K379K|ZNF521_uc002kvl.2_Silent_p.K159K	p.K379K	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1384	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		379					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.1137G>A	CCDS32806.1																																																																																				0.532	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2		NM_015461		20	77	0	0	0	0.007291	0	20	77		
SS18	6760	broad.mit.edu	37	18	23612474	23612474	+	Silent	SNP	A	A	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:23612474A>T	ENST00000415083.2	-	10	1174	c.1119T>A	c.(1117-1119)ggT>ggA	p.G373G	SS18_ENST00000269137.7_Silent_p.G342G|SS18_ENST00000539849.1_Silent_p.G291G|SS18_ENST00000545952.1_Silent_p.G290G|SS18_ENST00000542420.2_Silent_p.G350G|SS18_ENST00000542743.1_Silent_p.G290G	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	373	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GATACTGAGGACCTGGACCAC	0.493			T	"""SSX1,  SSX2"""	synovial sarcoma																																	uc002kvm.2		NaN		Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	SSX1| SSX2		synovial sarcoma	SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	0				soft_tissue(1883)|ovary(1)	1884						c.(1117-1119)GGT>GGA		synovial sarcoma translocation, chromosome 18							174.0	147.0	156.0					18																	23612474		2203	4300	6503	SO:0001819	synonymous_variant	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23612474A>T	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.1119T>A	18.37:g.23612474A>T						SS18_uc002kvn.2_Silent_p.G342G|SS18_uc010xbf.1_Silent_p.G291G|SS18_uc010xbg.1_Silent_p.G290G|SS18_uc010xbh.1_Silent_p.G290G|SS18_uc010xbi.1_Silent_p.G350G	p.G373G	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN			10	1197	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		373			Gln-rich.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Silent	SNP	ENST00000415083.2	37	c.1119T>A	CCDS32807.1																																																																																				0.493	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1				22	57	0	0	0	0.003954	0	22	57		
GALNT1	2589	broad.mit.edu	37	18	33243615	33243615	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:33243615C>T	ENST00000269195.5	+	2	266	c.163C>T	c.(163-165)Cat>Tat	p.H55Y	GALNT1_ENST00000591081.1_Missense_Mutation_p.H55Y|GALNT1_ENST00000537549.1_5'UTR	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	55					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ACAAAAGCCTCATGAAGGTCC	0.328																																						uc010dmu.2		NaN																	0				ovary(2)	2						c.(163-165)CAT>TAT		polypeptide N-acetylgalactosaminyltransferase 1							76.0	76.0	76.0					18																	33243615		2203	4300	6503	SO:0001583	missense	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33243615C>T		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.163C>T	18.37:g.33243615C>T	ENSP00000269195:p.His55Tyr					GALNT1_uc002kyz.3_5'UTR|GALNT1_uc002kza.2_Missense_Mutation_p.H55Y|GALNT1_uc002kzb.2_Missense_Mutation_p.H55Y	p.H55Y	NM_020474	NP_065207	Q10472	GALT1_HUMAN			3	216	+			55			Lumenal (Potential).		Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	c.163C>T	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586809	0.66105	.	.	ENSG00000141429	ENST00000537748;ENST00000269195	T	0.54071	0.59	5.42	5.42	0.78866	.	0.167517	0.53938	D	0.000046	T	0.45256	0.1333	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35549	-0.9784	10	0.59425	D	0.04	.	16.693	0.85327	0.0:1.0:0.0:0.0	.	55	Q10472	GALT1_HUMAN	Y	55	ENSP00000269195:H55Y	ENSP00000269195:H55Y	H	+	1	0	GALNT1	31497613	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.547000	0.85894	0.655000	0.94253	CAT		0.328	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2		NM_020474		12	13	0	0	0	0.003163	0	12	13		
CTIF	9811	broad.mit.edu	37	18	46287980	46287980	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:46287980G>A	ENST00000256413.3	+	9	1586	c.1291G>A	c.(1291-1293)Gct>Act	p.A431T	CTIF_ENST00000382998.4_Missense_Mutation_p.A433T	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	431	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CGCCTTCACCGCTGCCAAGCT	0.617																																						uc002ldc.2		NaN																	0					0						c.(1291-1293)GCT>ACT		hypothetical protein LOC9811 isoform 1							101.0	87.0	92.0					18																	46287980		2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46287980G>A	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1291G>A	18.37:g.46287980G>A	ENSP00000256413:p.Ala431Thr					KIAA0427_uc002ldd.2_Missense_Mutation_p.A433T|KIAA0427_uc002lde.3_Missense_Mutation_p.A60T	p.A431T	NM_014772	NP_055587	O43310	CTIF_HUMAN			9	1576	+			431			MIF4G.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.1291G>A	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	33	5.269745	0.95429	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.22743	1.94;1.94	5.51	5.51	0.81932	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.47173	0.1431	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.937;0.972	T	0.29518	-1.0009	10	0.41790	T	0.15	-13.0989	19.0419	0.93004	0.0:0.0:1.0:0.0	.	433;431	O43310-2;O43310	.;CTIF_HUMAN	T	431;433;383	ENSP00000256413:A431T;ENSP00000372459:A433T	ENSP00000256413:A431T	A	+	1	0	CTIF	44541978	1.000000	0.71417	0.930000	0.37139	0.904000	0.53231	9.476000	0.97823	2.600000	0.87896	0.655000	0.94253	GCT		0.617	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1		NM_014772		35	100	0	0	0	0.007835	0	35	100		
LIPG	9388	broad.mit.edu	37	18	47101864	47101864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:47101864C>T	ENST00000261292.4	+	5	975	c.697C>T	c.(697-699)Cag>Tag	p.Q233*	LIPG_ENST00000577628.1_Nonsense_Mutation_p.Q269*|LIPG_ENST00000427224.2_Intron|LIPG_ENST00000580036.1_Nonsense_Mutation_p.Q233*	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	233					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CATTGGTATTCAGATGCCTGT	0.532																																					Pancreas(126;280 1778 12814 26243 34948)	uc002ldv.2		NaN																	0				ovary(1)|skin(1)	2						c.(697-699)CAG>TAG		endothelial lipase precursor							103.0	81.0	89.0					18																	47101864		2203	4300	6503	SO:0001587	stop_gained	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47101864C>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.697C>T	18.37:g.47101864C>T	ENSP00000261292:p.Gln233*					LIPG_uc002ldu.1_Nonsense_Mutation_p.Q233*|LIPG_uc010xdh.1_Intron	p.Q233*	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN			5	949	+			233					B0LPG6|Q6P9C8|Q6UW82	Nonsense_Mutation	SNP	ENST00000261292.4	37	c.697C>T	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	C	40	7.971159	0.98588	.	.	ENSG00000101670	ENST00000261292	.	.	.	5.72	5.72	0.89469	.	0.100465	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-30.4836	19.8548	0.96752	0.0:1.0:0.0:0.0	.	.	.	.	X	233	.	ENSP00000261292:Q233X	Q	+	1	0	LIPG	45355862	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	4.030000	0.57260	2.702000	0.92279	0.591000	0.81541	CAG		0.532	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1		NM_006033		37	51	0	0	0	0.007835	0	37	51		
CFAP53	220136	broad.mit.edu	37	18	47777950	47777950	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:47777950C>G	ENST00000398545.4	-	4	795	c.678G>C	c.(676-678)ctG>ctC	p.L226L		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TGTTCTCCATCAGCTCTTTCT	0.552																																						uc002lee.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(676-678)CTG>CTC		coiled-coil domain containing 11							143.0	145.0	144.0					18																	47777950		2051	4195	6246	SO:0001819	synonymous_variant	220136							g.chr18:47777950C>G																												ENST00000398545.4:c.678G>C	18.37:g.47777950C>G							p.L226L	NM_145020	NP_659457	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	4	769	-			226			Potential.			Silent	SNP	ENST00000398545.4	37	c.678G>C	CCDS11940.2																																																																																				0.552	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3				36	63	0	0	0	0.00623	0	36	63		
SOCS6	9306	broad.mit.edu	37	18	67992252	67992252	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:67992252G>A	ENST00000397942.3	+	2	664	c.348G>A	c.(346-348)gtG>gtA	p.V116V	SOCS6_ENST00000582322.1_Silent_p.V116V	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	116					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TTAAAGACGTGAGAGCTCAGA	0.597																																					Melanoma(84;1024 1361 24382 36583 42651)	uc002lkr.1		NaN																	0				large_intestine(1)|lung(1)	2						c.(346-348)GTG>GTA		suppressor of cytokine signaling 6							39.0	42.0	41.0					18																	67992252		2203	4297	6500	SO:0001819	synonymous_variant	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992252G>A	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.348G>A	18.37:g.67992252G>A						SOCS6_uc010dqq.2_Silent_p.V116V	p.V116V	NM_004232	NP_004223	O14544	SOCS6_HUMAN			2	664	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	116					Q8WUM3	Silent	SNP	ENST00000397942.3	37	c.348G>A	CCDS11998.1																																																																																				0.597	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2				19	54	0	0	0	0.010504	0	19	54		
SHC2	25759	broad.mit.edu	37	19	418997	418997	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:418997C>G	ENST00000264554.6	-	12	1679	c.1680G>C	c.(1678-1680)caG>caC	p.Q560H		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	560	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCCCGTTCTGCAGGTGGT	0.677																																						uc002loq.3		NaN																	0					0						c.(1678-1680)CAG>CAC		SHC (Src homology 2 domain containing)							20.0	25.0	23.0					19																	418997		2126	4240	6366	SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:418997C>G	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1680G>C	19.37:g.418997C>G	ENSP00000264554:p.Gln560His					SHC2_uc002lop.3_Missense_Mutation_p.Q301H	p.Q560H	NM_012435	NP_036567	P98077	SHC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1680	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	560			SH2.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	c.1680G>C	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391561	0.42410	.	.	ENSG00000129946	ENST00000264554	T	0.62788	-0.0	4.53	2.33	0.28932	SH2 motif (4);	0.239689	0.42420	D	0.000718	T	0.41604	0.1166	N	0.17594	0.5	0.25491	N	0.987647	B	0.06786	0.001	B	0.10450	0.005	T	0.35001	-0.9806	10	0.56958	D	0.05	-19.278	7.1115	0.25392	0.0:0.571:0.3349:0.0941	.	560	P98077	SHC2_HUMAN	H	560	ENSP00000264554:Q560H	ENSP00000264554:Q560H	Q	-	3	2	SHC2	369997	0.867000	0.29959	0.999000	0.59377	0.860000	0.49131	-0.027000	0.12371	0.883000	0.36040	0.598000	0.82781	CAG		0.677	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3				6	7	0	0	0	0.001168	0	6	7		
POLRMT	5442	broad.mit.edu	37	19	619263	619263	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:619263G>A	ENST00000588649.2	-	14	3184	c.3100C>T	c.(3100-3102)Cgc>Tgc	p.R1034C	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1034	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACCTGGCGTACGAGATAG	0.637																																						uc002lpf.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(3100-3102)CGC>TGC		mitochondrial DNA-directed RNA polymerase							85.0	90.0	88.0					19																	619263		2203	4300	6503	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:619263G>A		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3100C>T	19.37:g.619263G>A	ENSP00000465759:p.Arg1034Cys						p.R1034C	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	3156	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	1034			Mediates interaction with TEFM.		O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.3100C>T	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	11.78	1.741691	0.30865	.	.	ENSG00000099821	ENST00000215591	T	0.46063	0.88	4.48	3.36	0.38483	.	0.587880	0.17744	N	0.163458	T	0.63224	0.2493	M	0.88450	2.955	0.19775	N	0.999952	D	0.76494	0.999	P	0.62382	0.901	T	0.55515	-0.8129	10	0.72032	D	0.01	-23.333	8.8309	0.35082	0.0:0.1498:0.6747:0.1755	.	1034	O00411	RPOM_HUMAN	C	1034	ENSP00000215591:R1034C	ENSP00000215591:R1034C	R	-	1	0	POLRMT	570263	0.006000	0.16342	0.993000	0.49108	0.043000	0.13939	1.430000	0.34914	2.045000	0.60652	0.456000	0.33151	CGC		0.637	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3		NM_005035		4	114	0	0	0	0.000602	0	4	114		
CNN2	1265	broad.mit.edu	37	19	1037770	1037770	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:1037770G>C	ENST00000263097.4	+	7	1164	c.801G>C	c.(799-801)caG>caC	p.Q267H	CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Missense_Mutation_p.Q256H|CNN2_ENST00000348419.3_Missense_Mutation_p.Q228H|ABCA7_ENST00000263094.6_5'Flank|CNN2_ENST00000562958.2_Missense_Mutation_p.Q288H|AC011558.5_ENST00000585757.1_RNA	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	267					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCCGGCAGATATATGACC	0.662																																						uc002lqu.2		NaN																	0					0						c.(799-801)CAG>CAC		calponin 2 isoform a							67.0	78.0	74.0					19																	1037770		2200	4292	6492	SO:0001583	missense	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1037770G>C	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.801G>C	19.37:g.1037770G>C	ENSP00000263097:p.Gln267His					ABCA7_uc002lqw.3_5'Flank|CNN2_uc002lqv.2_Missense_Mutation_p.Q228H|CNN2_uc010xgb.1_Missense_Mutation_p.Q256H|CNN2_uc010xgc.1_Missense_Mutation_p.Q288H|ABCA7_uc010dsa.2_5'Flank	p.Q267H	NM_004368	NP_004359	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1164	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	267			Calponin-like 3.		A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP	ENST00000263097.4	37	c.801G>C	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	g	18.34	3.602768	0.66445	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	T;T	0.51071	0.72;0.72	4.26	3.22	0.36961	.	0.000000	0.85682	U	0.000000	T	0.54565	0.1866	L	0.39514	1.22	0.43296	D	0.995284	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.47873	-0.9083	10	0.30078	T	0.28	.	9.7818	0.40653	0.1026:0.0:0.8974:0.0	.	288;256;228;267	B4DUT8;B4DDF4;A6NFI4;Q99439	.;.;.;CNN2_HUMAN	H	267;228;246	ENSP00000263097:Q267H;ENSP00000340129:Q228H	ENSP00000263097:Q267H	Q	+	3	2	CNN2	988770	1.000000	0.71417	0.985000	0.45067	0.925000	0.55904	5.929000	0.70096	1.006000	0.39211	0.556000	0.70494	CAG		0.662	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3		NM_004368		41	69	0	0	0	0.00361	0	41	69		
MUM1	84939	broad.mit.edu	37	19	1360523	1360523	+	Missense_Mutation	SNP	G	G	C	rs372425730		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:1360523G>C	ENST00000415183.3	+	4	632	c.606G>C	c.(604-606)gaG>gaC	p.E202D	MUM1_ENST00000591806.1_Missense_Mutation_p.E202D|MUM1_ENST00000344663.3_Missense_Mutation_p.E202D|MUM1_ENST00000311401.5_Missense_Mutation_p.E133D			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	201					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAAGATGAGAGTGGGTCCA	0.537											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010xgm.1		NaN																	0					0						c.(601-603)GAG>GAC		SubName: Full=MUM1 protein;							56.0	54.0	55.0					19																	1360523		2203	4300	6503	SO:0001583	missense	84939				chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	g.chr19:1360523G>C	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.606G>C	19.37:g.1360523G>C	ENSP00000394925:p.Glu202Asp		OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	595	MUM1_uc010dsi.2_Missense_Mutation_p.E133D|MUM1_uc002lrz.2_Missense_Mutation_p.E202D|MUM1_uc002lsb.2_Missense_Mutation_p.E133D|MUM1_uc002lsc.1_Missense_Mutation_p.E133D	p.E201D			Q2TAK8	MUM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	672	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	201					A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37	c.603G>C		.	.	.	.	.	.	.	.	.	.	G	0.005	-2.204768	0.00296	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183;ENST00000542512	T;T;T	0.34275	1.37;1.37;1.37	4.29	-8.57	0.00900	.	0.902049	0.09473	N	0.797453	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.0;0.003;0.002;0.0	B;B;B;B	0.08055	0.001;0.001;0.003;0.0	T	0.14392	-1.0474	10	0.05525	T	0.97	.	1.732	0.02934	0.2506:0.0914:0.3533:0.3048	.	202;202;133;201	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	D	202;133;202;131	ENSP00000345789:E202D;ENSP00000309135:E133D;ENSP00000394925:E202D	ENSP00000309135:E133D	E	+	3	2	MUM1	1311523	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.119000	0.00291	-4.782000	0.00032	-0.171000	0.13296	GAG		0.537	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1		NM_032853		9	15	0	0	0	0.006214	0	9	15		
LRRC8E	80131	broad.mit.edu	37	19	7964521	7964521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:7964521C>T	ENST00000306708.6	+	3	1215	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	372					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q372*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CCTCATCGATCAGTACGACTC	0.572																																						uc002mir.2		NaN																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	lung(1)|pancreas(1)	2						c.(1114-1116)CAG>TAG		leucine rich repeat containing 8 family, member							101.0	75.0	84.0					19																	7964521		2203	4300	6503	SO:0001587	stop_gained	80131					integral to membrane		g.chr19:7964521C>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1114C>T	19.37:g.7964521C>T	ENSP00000306524:p.Gln372*						p.Q372*	NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN			3	1215	+			372					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Nonsense_Mutation	SNP	ENST00000306708.6	37	c.1114C>T	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103677	0.76983	.	.	ENSG00000171017	ENST00000306708	.	.	.	4.89	2.66	0.31614	.	0.059322	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	12.8608	0.57911	0.0:0.7003:0.2997:0.0	.	.	.	.	X	372	.	ENSP00000306524:Q372X	Q	+	1	0	LRRC8E	7870521	1.000000	0.71417	0.999000	0.59377	0.378000	0.30076	4.894000	0.63206	0.606000	0.29965	0.555000	0.69702	CAG		0.572	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1		NM_025061		17	49	0	0	0	0.010504	0	17	49		
TIMM44	10469	broad.mit.edu	37	19	7992542	7992542	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:7992542C>T	ENST00000270538.3	-	12	1507	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	CTD-3193O13.8_ENST00000594308.1_RNA|CTXN1_ENST00000318978.4_5'Flank|TIMM44_ENST00000598968.1_5'UTR	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	413					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CCTCACTCACCGGGTCACCCT	0.627																																						uc002miz.2		NaN																	0				ovary(1)	1						c.(1237-1239)CCG>CCA		translocase of inner mitochondrial membrane 44							150.0	116.0	127.0					19																	7992542		2203	4300	6503	SO:0001630	splice_region_variant	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7992542C>T	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.1239+1G>A	19.37:g.7992542C>T						TIMM44_uc002mja.2_Silent_p.P153P|CTXN1_uc002miy.3_5'Flank	p.P413P	NM_006351	NP_006342	O43615	TIM44_HUMAN			12	1241	-			413					A8K0R9|D6W664|Q8N193	Silent	SNP	ENST00000270538.3	37	c.1239G>A	CCDS12192.1																																																																																				0.627	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			Silent	106	88	0	0	0	0.00361	0	106	88		
DNM2	1785	broad.mit.edu	37	19	10934516	10934516	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:10934516G>A	ENST00000355667.6	+	17	1914	c.1834G>A	c.(1834-1836)Gac>Aac	p.D612N	DNM2_ENST00000359692.6_Missense_Mutation_p.D608N|DNM2_ENST00000314646.5_Missense_Mutation_p.D612N|DNM2_ENST00000389253.4_Missense_Mutation_p.D612N|DNM2_ENST00000585892.1_Missense_Mutation_p.D612N|DNM2_ENST00000408974.4_Missense_Mutation_p.D608N	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	612	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTCCCAGGAAGACGTGGACAG	0.667			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1		NaN		Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(1834-1836)GAC>AAC		dynamin 2 isoform 2							71.0	61.0	64.0					19																	10934516		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10934516G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1834G>A	19.37:g.10934516G>A	ENSP00000347890:p.Asp612Asn					DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Missense_Mutation_p.D612N|DNM2_uc002mpv.1_Missense_Mutation_p.D608N|DNM2_uc002mpu.1_Missense_Mutation_p.D608N|DNM2_uc010dxl.1_Missense_Mutation_p.D612N|DNM2_uc002mpw.2_Missense_Mutation_p.D341N|DNM2_uc002mpx.1_5'UTR	p.D612N	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		17	1998	+			612			PH.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1834G>A	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	34	5.385844	0.95967	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	D;T;D;D	0.96774	-4.12;-0.99;-4.12;-4.12	4.92	4.92	0.64577	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.151252	0.56097	D	0.000021	D	0.96731	0.8933	M	0.71581	2.175	0.80722	D	1	P;B;B;P;P;P	0.48834	0.633;0.447;0.028;0.57;0.738;0.916	P;B;B;P;P;P	0.51516	0.604;0.305;0.408;0.64;0.665;0.672	D	0.96415	0.9307	10	0.41790	T	0.15	-2.8383	16.9115	0.86141	0.0:0.0:1.0:0.0	.	206;341;608;608;612;612	Q8N1K8;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;DYN2_HUMAN;.	N	608;608;612;612;612;219	ENSP00000386192:D608N;ENSP00000347890:D608N;ENSP00000373905:D612N;ENSP00000313164:D612N	ENSP00000313164:D612N	D	+	1	0	DNM2	10795516	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	9.516000	0.98017	2.281000	0.76405	0.462000	0.41574	GAC		0.667	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1		NM_004945		39	52	0	0	0	0.00361	0	39	52		
DNM2	1785	broad.mit.edu	37	19	10934530	10934530	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:10934530G>C	ENST00000355667.6	+	17	1928	c.1848G>C	c.(1846-1848)tgG>tgC	p.W616C	DNM2_ENST00000359692.6_Missense_Mutation_p.W612C|DNM2_ENST00000314646.5_Missense_Mutation_p.W616C|DNM2_ENST00000389253.4_Missense_Mutation_p.W616C|DNM2_ENST00000585892.1_Missense_Mutation_p.W616C|DNM2_ENST00000408974.4_Missense_Mutation_p.W612C	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	616	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGGACAGCTGGAAGGCCTCGT	0.657			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1		NaN		Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(1846-1848)TGG>TGC		dynamin 2 isoform 2							68.0	58.0	62.0					19																	10934530		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10934530G>C		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1848G>C	19.37:g.10934530G>C	ENSP00000347890:p.Trp616Cys					DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Missense_Mutation_p.W616C|DNM2_uc002mpv.1_Missense_Mutation_p.W612C|DNM2_uc002mpu.1_Missense_Mutation_p.W612C|DNM2_uc010dxl.1_Missense_Mutation_p.W616C|DNM2_uc002mpw.2_Missense_Mutation_p.W345C|DNM2_uc002mpx.1_5'UTR	p.W616C	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		17	2012	+			616			PH.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1848G>C	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423567	0.83559	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	D;D;D	0.99889	-7.55;-7.55;-7.55	4.92	4.92	0.64577	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.99908	0.9956	M	0.92691	3.335	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.997;0.998;0.999;1.0	D	0.96016	0.9005	10	0.72032	D	0.01	-1.2536	16.9115	0.86141	0.0:0.0:1.0:0.0	.	210;345;612;612;616;616	Q8N1K8;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;DYN2_HUMAN;.	C	612;612;616;616;616;223	ENSP00000386192:W612C;ENSP00000373905:W616C;ENSP00000313164:W616C	ENSP00000313164:W616C	W	+	3	0	DNM2	10795530	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.516000	0.98017	2.281000	0.76405	0.462000	0.41574	TGG		0.657	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1		NM_004945		30	49	0	0	0	0.00361	0	30	49		
ZNF442	79973	broad.mit.edu	37	19	12474396	12474396	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:12474396G>C	ENST00000242804.4	-	3	632	c.50C>G	c.(49-51)tCt>tGt	p.S17C	ZNF442_ENST00000438182.1_Intron	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	17					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						ATTAGTCTGAGAGTCAGGAAG	0.488																																						uc002mtr.1		NaN																	0				large_intestine(2)|breast(1)|kidney(1)	4						c.(49-51)TCT>TGT		zinc finger protein 442							250.0	229.0	236.0					19																	12474396		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12474396G>C	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.50C>G	19.37:g.12474396G>C	ENSP00000242804:p.Ser17Cys					ZNF442_uc010xmk.1_Intron	p.S17C	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN			3	661	-			17					B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.50C>G	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	G	5.491	0.275577	0.10403	.	.	ENSG00000198342	ENST00000242804	T	0.05513	3.43	0.468	0.468	0.16732	.	.	.	.	.	T	0.05731	0.0150	N	0.08118	0	0.09310	N	1	P	0.46578	0.88	P	0.52481	0.7	T	0.44236	-0.9341	8	0.36615	T	0.2	.	.	.	.	.	17	Q9H7R0	ZN442_HUMAN	C	17	ENSP00000242804:S17C	ENSP00000242804:S17C	S	-	2	0	ZNF442	12335396	0.179000	0.23135	0.055000	0.19348	0.052000	0.14988	0.529000	0.23019	0.488000	0.27723	0.491000	0.48974	TCT		0.488	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1		NM_030824		8	140	0	0	0	0.004482	0	8	140		
MAN2B1	4125	broad.mit.edu	37	19	12767436	12767436	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:12767436G>A	ENST00000456935.2	-	13	1633	c.1593C>T	c.(1591-1593)agC>agT	p.S531S	MAN2B1_ENST00000495617.1_5'Flank|MAN2B1_ENST00000221363.4_Silent_p.S530S	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	531					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAACGCCTTCGCTGACCGGCA	0.602																																						uc002mub.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(1591-1593)AGC>AGT		mannosidase, alpha, class 2B, member 1							86.0	80.0	82.0					19																	12767436		2203	4300	6503	SO:0001819	synonymous_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12767436G>A		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1593C>T	19.37:g.12767436G>A						MAN2B1_uc010dyv.1_Silent_p.S530S	p.S531S	NM_000528	NP_000519	O00754	MA2B1_HUMAN			13	1669	-			531					G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	c.1593C>T	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	9.493	1.101275	0.20632	.	.	ENSG00000104774	ENST00000433513	.	.	.	5.24	-5.48	0.02592	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.6083	3.4876	0.07625	0.5358:0.1116:0.2402:0.1125	.	.	.	.	X	67	.	.	R	-	1	2	MAN2B1	12628436	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	-1.346000	0.02634	-0.516000	0.06470	-0.229000	0.12294	CGA		0.602	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1				106	68	0	0	0	0.00361	0	106	68		
CASP14	23581	broad.mit.edu	37	19	15164702	15164702	+	Silent	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:15164702G>T	ENST00000427043.3	+	4	644	c.336G>T	c.(334-336)ctG>ctT	p.L112L	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Silent_p.L112L	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	112					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						TCGAGGCCCTGAACAACAAGA	0.562																																						uc010dzv.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(334-336)CTG>CTT		caspase 14 precursor							96.0	87.0	90.0					19																	15164702		2203	4300	6503	SO:0001819	synonymous_variant	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15164702G>T		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.336G>T	19.37:g.15164702G>T						CASP14_uc002naf.2_Silent_p.L112L	p.L112L	NM_012114	NP_036246	P31944	CASPE_HUMAN			4	644	+			112					O95823|Q3SYC9	Silent	SNP	ENST00000427043.3	37	c.336G>T	CCDS12323.1																																																																																				0.562	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1		NM_012114		29	48	1	0	3.11337e-16	0.002836	3.31456e-16	29	48		
CHERP	10523	broad.mit.edu	37	19	16652774	16652774	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:16652774C>G	ENST00000198939.6	-	2	142	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	CHERP_ENST00000546361.2_Missense_Mutation_p.E36Q|CTD-3222D19.7_ENST00000595909.1_lincRNA|RN7SL146P_ENST00000472338.2_RNA|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TTCTGCTTCTCCATAGTCATC	0.532																																						uc002nei.1		NaN																	0				ovary(2)	2						c.(106-108)GAG>CAG		calcium homeostasis endoplasmic reticulum							128.0	147.0	141.0					19																	16652774		1953	4130	6083	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16652774C>G	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.106G>C	19.37:g.16652774C>G	ENSP00000198939:p.Glu36Gln					MED26_uc002nee.2_Intron|CHERP_uc002nej.2_Missense_Mutation_p.E4Q	p.E36Q	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			2	180	-			36			SURP motif.			Missense_Mutation	SNP	ENST00000198939.6	37	c.106G>C		.	.	.	.	.	.	.	.	.	.	C	17.73	3.460401	0.63401	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.44482	0.92;0.92	4.31	4.31	0.51392	SWAP/Surp (3);	.	.	.	.	T	0.28532	0.0706	N	0.12182	0.205	0.54753	D	0.999985	B	0.33883	0.43	B	0.36719	0.231	T	0.10636	-1.0621	9	0.25106	T	0.35	-24.0641	15.8021	0.78458	0.0:1.0:0.0:0.0	.	36	Q8IWX8	CHERP_HUMAN	Q	36	ENSP00000439856:E36Q;ENSP00000198939:E36Q	ENSP00000198939:E36Q	E	-	1	0	CHERP	16513774	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.455000	0.66658	1.954000	0.56735	0.511000	0.50034	GAG		0.532	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1		NM_006387		21	40	0	0	0	0.00278	0	21	40		
CHERP	10523	broad.mit.edu	37	19	16653168	16653168	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:16653168C>G	ENST00000198939.6	-	1	58	c.22G>C	c.(22-24)Gat>Cat	p.D8H	CHERP_ENST00000546361.2_Missense_Mutation_p.D8H|CTD-3222D19.7_ENST00000595909.1_lincRNA|RN7SL146P_ENST00000472338.2_RNA|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GTCTCACCATCGGGGGGCAGC	0.726																																						uc002nei.1		NaN																	0				ovary(2)	2						c.(22-24)GAT>CAT		calcium homeostasis endoplasmic reticulum							11.0	15.0	14.0					19																	16653168		1928	4120	6048	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16653168C>G	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.22G>C	19.37:g.16653168C>G	ENSP00000198939:p.Asp8His					MED26_uc002nee.2_Intron|CHERP_uc002nej.2_5'Flank	p.D8H	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			1	96	-			8						Missense_Mutation	SNP	ENST00000198939.6	37	c.22G>C		.	.	.	.	.	.	.	.	.	.	C	14.91	2.677028	0.47886	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.41758	0.99;0.99	4.55	4.55	0.56014	.	.	.	.	.	T	0.43233	0.1238	L	0.50333	1.59	0.45108	D	0.998127	P	0.39250	0.665	B	0.43274	0.414	T	0.44267	-0.9339	9	0.56958	D	0.05	.	12.845	0.57825	0.0:1.0:0.0:0.0	.	8	Q8IWX8	CHERP_HUMAN	H	8	ENSP00000439856:D8H;ENSP00000198939:D8H	ENSP00000198939:D8H	D	-	1	0	CHERP	16514168	0.763000	0.28462	0.977000	0.42913	0.164000	0.22412	1.142000	0.31540	2.090000	0.63153	0.555000	0.69702	GAT		0.726	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1		NM_006387		3	14	0	0	0	0.004482	0	3	14		
MAP1S	55201	broad.mit.edu	37	19	17831750	17831750	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:17831750C>T	ENST00000324096.4	+	2	275	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.R16W	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	42	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						ACCAGGCATCCGGTCTTGGGA	0.582																																						uc002nhe.1		NaN																	0				central_nervous_system(1)	1						c.(124-126)CGG>TGG		BPY2 interacting protein 1							123.0	113.0	117.0					19																	17831750		2203	4300	6503	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17831750C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.124C>T	19.37:g.17831750C>T	ENSP00000325313:p.Arg42Trp					MAP1S_uc010eaz.1_Intron|MAP1S_uc010eba.1_Missense_Mutation_p.R42W|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.R16W	p.R42W	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			2	133	+			42			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.124C>T	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	c	17.27	3.347266	0.61183	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.20881	2.04;2.04	3.87	3.87	0.44632	.	0.162248	0.29159	N	0.012975	T	0.40694	0.1127	M	0.71036	2.16	0.49213	D	0.999766	D;D;D	0.89917	0.999;1.0;1.0	P;P;D	0.75484	0.862;0.897;0.986	T	0.28235	-1.0050	10	0.72032	D	0.01	-27.0216	7.7518	0.28901	0.0:0.8792:0.0:0.1208	.	16;42;42	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	W	42;16	ENSP00000325313:R42W;ENSP00000439243:R16W	ENSP00000325313:R42W	R	+	1	2	MAP1S	17692750	1.000000	0.71417	0.997000	0.53966	0.307000	0.27823	5.276000	0.65580	1.863000	0.54032	0.486000	0.48141	CGG		0.582	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1		NM_018174		8	128	0	0	0	0.010729	0	8	128		
ZNF253	56242	broad.mit.edu	37	19	19990934	19990934	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:19990934G>A	ENST00000589717.1	+	3	297	c.205G>A	c.(205-207)Gag>Aag	p.E69K	ZNF253_ENST00000355650.4_Intron	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAAAGACATGAGATGATTGC	0.373																																						uc002noj.2		NaN																	0					0						c.(205-207)GAG>AAG		zinc finger protein 253							75.0	81.0	79.0					19																	19990934		2147	4267	6414	SO:0001583	missense	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19990934G>A	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.205G>A	19.37:g.19990934G>A	ENSP00000468720:p.Glu69Lys					ZNF253_uc002nok.2_Intron|ZNF253_uc002nol.2_Intron	p.E69K	NM_021047	NP_066385	O75346	ZN253_HUMAN			3	297	+			69			KRAB.		A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	37	c.205G>A	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	g	7.182	0.589781	0.13812	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.439	0.439	0.16567	Krueppel-associated box (1);	.	.	.	.	T	0.24509	0.0594	L	0.35644	1.08	0.09310	N	1	P	0.47106	0.89	B	0.40066	0.318	T	0.11743	-1.0575	6	.	.	.	.	.	.	.	.	69	O75346	ZN253_HUMAN	K	69	.	.	E	+	1	0	ZNF253	19851934	0.011000	0.17503	0.006000	0.13384	0.132000	0.20833	1.163000	0.31798	0.456000	0.26937	0.205000	0.17691	GAG		0.373	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1		NM_021047		7	33	0	0	0	0.001984	0	7	33		
ZNF253	56242	broad.mit.edu	37	19	19990939	19990939	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:19990939G>A	ENST00000589717.1	+	3	302	c.210G>A	c.(208-210)atG>atA	p.M70I	ZNF253_ENST00000355650.4_Intron	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	70	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACATGAGATGATTGCCAAAC	0.373																																						uc002noj.2		NaN																	0					0						c.(208-210)ATG>ATA		zinc finger protein 253							73.0	79.0	77.0					19																	19990939		2142	4268	6410	SO:0001583	missense	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19990939G>A	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.210G>A	19.37:g.19990939G>A	ENSP00000468720:p.Met70Ile					ZNF253_uc002nok.2_Intron|ZNF253_uc002nol.2_Intron	p.M70I	NM_021047	NP_066385	O75346	ZN253_HUMAN			3	302	+			70			KRAB.		A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	37	c.210G>A	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	g	8.584	0.882894	0.17467	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.439	-0.733	0.11144	Krueppel-associated box (1);	.	.	.	.	T	0.11067	0.0270	N	0.12831	0.26	0.09310	N	1	P	0.39782	0.688	B	0.28849	0.095	T	0.18272	-1.0342	6	.	.	.	.	.	.	.	.	70	O75346	ZN253_HUMAN	I	70	.	.	M	+	3	0	ZNF253	19851939	0.000000	0.05858	0.002000	0.10522	0.174000	0.22865	-0.756000	0.04777	-0.411000	0.07530	0.205000	0.17691	ATG		0.373	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1		NM_021047		6	33	0	0	0	0.001168	0	6	33		
ZNF493	284443	broad.mit.edu	37	19	21606279	21606279	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:21606279C>T	ENST00000355504.4	+	2	700	c.434C>T	c.(433-435)tCt>tTt	p.S145F	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.S273F	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S273C(1)|p.S145C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGTGGCACATCTTTCTACCAA	0.348																																						uc002npx.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(433-435)TCT>TTT		zinc finger protein 493 isoform 1							52.0	54.0	53.0					19																	21606279		2203	4297	6500	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606279C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.434C>T	19.37:g.21606279C>T	ENSP00000347691:p.Ser145Phe					ZNF493_uc002npw.2_Missense_Mutation_p.S273F|ZNF493_uc002npy.2_Missense_Mutation_p.S145F	p.S145F	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	714	+			145			C2H2-type 5.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.434C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	8.616	0.890201	0.17613	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.19394	2.15;2.15	0.927	0.927	0.19437	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29458	0.0734	M	0.64997	1.995	0.09310	N	1	D;P	0.53151	0.958;0.68	P;B	0.52454	0.699;0.166	T	0.11155	-1.0599	9	0.72032	D	0.01	.	6.3469	0.21355	0.0:0.4433:0.5567:0.0	.	145;273	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	F	273;145	ENSP00000376110:S273F;ENSP00000347691:S145F	ENSP00000347691:S145F	S	+	2	0	ZNF493	21398119	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-0.908000	0.04063	0.378000	0.24764	0.384000	0.25694	TCT		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1		NM_175910		16	3	0	0	0	0.00499	0	16	3		
ZNF493	284443	broad.mit.edu	37	19	21607244	21607244	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:21607244C>T	ENST00000355504.4	+	2	1665	c.1399C>T	c.(1399-1401)Cat>Tat	p.H467Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.H595Y	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CAAGATAATTCATACTGATAA	0.333																																						uc002npx.2		NaN																	0				ovary(1)	1						c.(1399-1401)CAT>TAT		zinc finger protein 493 isoform 1							33.0	32.0	33.0					19																	21607244		2201	4298	6499	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607244C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1399C>T	19.37:g.21607244C>T	ENSP00000347691:p.His467Tyr					ZNF493_uc002npw.2_Missense_Mutation_p.H595Y|ZNF493_uc002npy.2_Missense_Mutation_p.H467Y	p.H467Y	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	1679	+			467			C2H2-type 16.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1399C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	15.04	2.715517	0.48622	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.67523	-0.27;-0.27	1.06	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84840	0.5561	H	0.96805	3.885	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.74348	0.963;0.983	D	0.84984	0.0890	9	0.72032	D	0.01	.	8.9275	0.35650	0.0:1.0:0.0:0.0	.	467;595	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Y	595;467	ENSP00000376110:H595Y;ENSP00000347691:H467Y	ENSP00000347691:H467Y	H	+	1	0	ZNF493	21399084	0.682000	0.27624	0.002000	0.10522	0.002000	0.02628	2.343000	0.44001	0.458000	0.26988	0.467000	0.42956	CAT		0.333	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1		NM_175910		7	1	0	0	0	0.00308	0	7	1		
ZNF493	284443	broad.mit.edu	37	19	21607722	21607722	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:21607722C>T	ENST00000355504.4	+	2	2143	c.1877C>T	c.(1876-1878)tCa>tTa	p.S626L	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.S754L	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	626					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGGCGGTCTTCACATCTTAGT	0.373																																						uc002npx.2		NaN																	0				ovary(1)	1						c.(1876-1878)TCA>TTA		zinc finger protein 493 isoform 1							47.0	48.0	48.0					19																	21607722		2203	4299	6502	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607722C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1877C>T	19.37:g.21607722C>T	ENSP00000347691:p.Ser626Leu					ZNF493_uc002npw.2_Missense_Mutation_p.S754L|ZNF493_uc002npy.2_Missense_Mutation_p.S626L	p.S626L	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	2157	+			626			C2H2-type 22.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1877C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	8.977	0.974299	0.18736	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.31769	1.48;1.48	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42404	0.1201	L	0.51853	1.615	0.09310	N	0.999994	D;P	0.60160	0.987;0.724	P;B	0.62435	0.902;0.137	T	0.22556	-1.0213	9	0.87932	D	0	.	8.4137	0.32659	0.0:1.0:0.0:0.0	.	626;754	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	L	754;626	ENSP00000376110:S754L;ENSP00000347691:S626L	ENSP00000347691:S626L	S	+	2	0	ZNF493	21399562	0.000000	0.05858	0.118000	0.21660	0.151000	0.21798	0.151000	0.16283	0.192000	0.20272	0.195000	0.17529	TCA		0.373	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1		NM_175910		9	4	0	0	0	0.004482	0	9	4		
ZNF493	284443	broad.mit.edu	37	19	21607760	21607760	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:21607760C>T	ENST00000355504.4	+	2	2181	c.1915C>T	c.(1915-1917)Cat>Tat	p.H639Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.H767Y	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	639					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TATTGGAATTCATACTGAAGA	0.378																																						uc002npx.2		NaN																	0				ovary(1)	1						c.(1915-1917)CAT>TAT		zinc finger protein 493 isoform 1							47.0	49.0	49.0					19																	21607760		2203	4297	6500	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607760C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1915C>T	19.37:g.21607760C>T	ENSP00000347691:p.His639Tyr					ZNF493_uc002npw.2_Missense_Mutation_p.H767Y|ZNF493_uc002npy.2_Missense_Mutation_p.H639Y	p.H639Y	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	2195	+			639					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1915C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	7.398	0.632102	0.14322	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.07908	3.33;3.15	0.85	0.85	0.18980	Zinc finger, C2H2 (1);	.	.	.	.	T	0.03477	0.0100	N	0.11313	0.125	0.58432	D	0.999994	B;P	0.41041	0.094;0.736	B;B	0.34536	0.027;0.185	T	0.51340	-0.8718	9	0.87932	D	0	.	4.7959	0.13272	0.0:1.0:0.0:0.0	.	639;767	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Y	767;639	ENSP00000376110:H767Y;ENSP00000347691:H639Y	ENSP00000347691:H639Y	H	+	1	0	ZNF493	21399600	0.999000	0.42202	0.104000	0.21259	0.130000	0.20726	1.776000	0.38594	0.192000	0.20272	0.195000	0.17529	CAT		0.378	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1		NM_175910		12	6	0	0	0	0.00245	0	12	6		
ZNF91	7644	broad.mit.edu	37	19	23544994	23544994	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:23544994C>G	ENST00000300619.7	-	4	992	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	ZNF91_ENST00000397082.2_Missense_Mutation_p.E231Q|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	263					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAGATTTTCTCTTTAGCACAG	0.378																																						uc002nre.2		NaN																	0					0						c.(787-789)GAG>CAG		zinc finger protein 91							112.0	124.0	120.0					19																	23544994		2186	4297	6483	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544994C>G	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.787G>C	19.37:g.23544994C>G	ENSP00000300619:p.Glu263Gln					ZNF91_uc010xrj.1_Missense_Mutation_p.E231Q	p.E263Q	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	900	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	263					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.787G>C	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804992	0.31961	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.41758	0.99;0.99	1.96	-0.68	0.11346	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40015	0.1100	M	0.83483	2.645	0.09310	N	0.999999	B;P	0.35155	0.351;0.487	B;B	0.30572	0.117;0.085	T	0.35822	-0.9773	9	0.72032	D	0.01	.	5.5373	0.17018	0.0:0.6648:0.2017:0.1335	.	231;263	Q05481-2;Q05481	.;ZNF91_HUMAN	Q	263;231	ENSP00000300619:E263Q;ENSP00000380272:E231Q	ENSP00000300619:E263Q	E	-	1	0	ZNF91	23336834	0.021000	0.18746	0.001000	0.08648	0.000000	0.00434	1.366000	0.34193	-0.229000	0.09854	-1.723000	0.00705	GAG		0.378	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1		NM_003430		29	42	0	0	0	0.002836	0	29	42		
ZNF536	9745	broad.mit.edu	37	19	30934886	30934886	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:30934886C>T	ENST00000355537.3	+	2	564	c.417C>T	c.(415-417)ttC>ttT	p.F139F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	139					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.F139F(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAAGCGCTTCCGCTTCAACA	0.637																																						uc002nsu.1		NaN																	1	Substitution - coding silent(1)	p.F139F(1)	ovary(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(415-417)TTC>TTT		zinc finger protein 536							66.0	54.0	58.0					19																	30934886		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934886C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.417C>T	19.37:g.30934886C>T						ZNF536_uc010edd.1_Silent_p.F139F	p.F139F	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	555	+	Esophageal squamous(110;0.0834)		139			C2H2-type 1.		A2RU18	Silent	SNP	ENST00000355537.3	37	c.417C>T	CCDS32984.1																																																																																				0.637	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2		NM_014717		207	50	0	0	0	0.00361	0	207	50		
GPI	2821	broad.mit.edu	37	19	34884965	34884965	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:34884965C>T	ENST00000356487.5	+	12	1297	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	GPI_ENST00000586425.1_Silent_p.F352F|GPI_ENST00000415930.3_Silent_p.F363F	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	352					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CTGCGTACTTCCAGCAGGTAC	0.577																																						uc002nvg.1		NaN																	0				ovary(1)|kidney(1)	2						c.(1054-1056)TTC>TTT		glucose phosphate isomerase							51.0	47.0	49.0					19																	34884965		2203	4300	6503	SO:0001819	synonymous_variant	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34884965C>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1056C>T	19.37:g.34884965C>T						GPI_uc002nvf.2_Silent_p.F391F|GPI_uc010xrv.1_Silent_p.F363F|GPI_uc010xrw.1_Silent_p.F324F|GPI_uc010edl.1_Silent_p.F352F|GPI_uc002nvi.1_Silent_p.F15F	p.F352F	NM_000175	NP_000166	P06744	G6PI_HUMAN			12	1159	+	Esophageal squamous(110;0.162)		352					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	ENST00000356487.5	37	c.1056C>T	CCDS12437.1																																																																																				0.577	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3				42	50	0	0	0	0.00361	0	42	50		
ZNF585B	92285	broad.mit.edu	37	19	37676214	37676214	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:37676214C>G	ENST00000532828.2	-	5	2476	c.2225G>C	c.(2224-2226)gGa>gCa	p.G742A	ZNF585B_ENST00000531805.1_Missense_Mutation_p.G687A|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.G330A	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	742					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGTTTGTCTCCAGTGTGTGT	0.478																																					Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.2		NaN																	0				ovary(1)	1						c.(2224-2226)GGA>GCA		zinc finger protein 585B							159.0	134.0	143.0					19																	37676214		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37676214C>G	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2225G>C	19.37:g.37676214C>G	ENSP00000433773:p.Gly742Ala					uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.G556A	p.G742A	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2479	-			742					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.2225G>C	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522682	0.27211	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.26373	1.74;1.74;1.74	2.42	2.42	0.29668	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.432876	0.17200	N	0.183162	T	0.28433	0.0703	L	0.53617	1.68	0.34272	D	0.681139	B;P	0.45715	0.438;0.865	B;B	0.44085	0.132;0.44	T	0.52139	-0.8615	10	0.87932	D	0	.	11.8932	0.52641	0.0:1.0:0.0:0.0	.	687;742	E9PQH3;Q52M93	.;Z585B_HUMAN	A	687;742;330	ENSP00000436774:G687A;ENSP00000433773:G742A;ENSP00000442139:G330A	ENSP00000442139:G330A	G	-	2	0	ZNF585B	42368054	0.019000	0.18553	0.979000	0.43373	0.564000	0.35744	2.652000	0.46682	1.331000	0.45412	0.305000	0.20034	GGA		0.478	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2		NM_152279		10	203	0	0	0	0.001368	0	10	203		
SIPA1L3	23094	broad.mit.edu	37	19	38633219	38633219	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:38633219C>T	ENST00000222345.6	+	12	3911	c.3402C>T	c.(3400-3402)gtC>gtT	p.V1134V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1134					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTAGGCCTGTCAGCTTCCCAG	0.617											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ohk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3400-3402)GTC>GTT		signal-induced proliferation-associated 1 like							214.0	204.0	208.0					19																	38633219		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38633219C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3402C>T	19.37:g.38633219C>T			OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	879		p.V1134V	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		12	3911	+			1134					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.3402C>T	CCDS33007.1																																																																																				0.617	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2		XM_032278		337	316	0	0	0	0.00361	0	337	316		
RYR1	6261	broad.mit.edu	37	19	39055650	39055650	+	Missense_Mutation	SNP	G	G	A	rs118192128		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:39055650G>A	ENST00000359596.3	+	91	12676	c.12676G>A	c.(12676-12678)Gag>Aag	p.E4226K	RYR1_ENST00000355481.4_Missense_Mutation_p.E4221K|RYR1_ENST00000360985.3_Missense_Mutation_p.E4221K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4226					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGAGGGCGGCGAGGCTGAGAA	0.642																																						uc002oit.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(12676-12678)GAG>AAG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						29.0	24.0	25.0					19																	39055650		2200	4296	6496	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39055650G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12676G>A	19.37:g.39055650G>A	ENSP00000352608:p.Glu4226Lys					RYR1_uc002oiu.2_Missense_Mutation_p.E4221K|RYR1_uc002oiv.1_Missense_Mutation_p.E1135K	p.E4226K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		91	12806	+	all_cancers(60;7.91e-06)		4226					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.12676G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058105	0.55325	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97710	-4.5;-4.5;-4.5	3.07	3.07	0.35406	.	0.000000	0.64402	U	0.000002	D	0.98692	0.9561	M	0.88704	2.975	0.58432	D	0.999993	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76575	0.982;0.988;0.972	D	0.99271	1.0893	10	0.72032	D	0.01	.	14.2817	0.66216	0.0:0.0:1.0:0.0	.	4221;4221;4226	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	K	4226;4221;4221	ENSP00000352608:E4226K;ENSP00000347667:E4221K;ENSP00000354254:E4221K	ENSP00000347667:E4221K	E	+	1	0	RYR1	43747490	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	9.449000	0.97603	1.744000	0.51775	0.505000	0.49811	GAG		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1				11	20	0	0	0	0.003163	0	11	20		
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G	rs200594600		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:40580552T>G	ENST00000595687.2	-	6	2006	c.1797A>C	c.(1795-1797)caA>caC	p.Q599H	ZNF780A_ENST00000450241.2_Missense_Mutation_p.Q565H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403																																						uc002omy.2		NaN																	0					0						c.(1795-1797)CAA>CAC		zinc finger protein 780A isoform b							144.0	142.0	143.0					19																	40580552		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580552T>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1797A>C	19.37:g.40580552T>G	ENSP00000472189:p.Gln599His					ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.Q599H|ZNF780A_uc010xvh.1_Missense_Mutation_p.Q600H	p.Q599H	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	2022	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		599			C2H2-type 16.		E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1797A>C	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	t	9.527	1.109847	0.20714	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.27402	1.67;1.67	1.93	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19208	0.0461	N	0.02674	-0.535	0.09310	N	1	B;D	0.69078	0.387;0.997	B;D	0.65684	0.312;0.937	T	0.17715	-1.0360	9	0.08599	T	0.76	.	6.7369	0.23415	0.0:0.0:0.4738:0.5262	.	600;599	E9PB48;O75290	.;Z780A_HUMAN	H	599;600;599	ENSP00000400997:Q600H;ENSP00000341507:Q599H	ENSP00000341507:Q599H	Q	-	3	2	ZNF780A	45272392	0.000000	0.05858	0.004000	0.12327	0.653000	0.38743	-2.502000	0.00965	-0.004000	0.14419	0.260000	0.18958	CAA		0.403	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1		NM_001010880		6	211	0	0	0	0.00308	0	6	211		
ZNF780A	284323	broad.mit.edu	37	19	40580582	40580582	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:40580582C>T	ENST00000595687.2	-	6	1976	c.1767G>A	c.(1765-1767)gaG>gaA	p.E589E	ZNF780A_ENST00000450241.2_Silent_p.E555E|ZNF780A_ENST00000340963.5_Silent_p.E589E|ZNF780A_ENST00000594395.1_Silent_p.E590E|ZNF780A_ENST00000455521.1_Silent_p.E590E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACACTCCTTACATT	0.393																																						uc002omy.2		NaN																	0					0						c.(1765-1767)GAG>GAA		zinc finger protein 780A isoform b							144.0	143.0	143.0					19																	40580582		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580582C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1767G>A	19.37:g.40580582C>T						ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Silent_p.E589E|ZNF780A_uc010xvh.1_Silent_p.E590E	p.E589E	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	1992	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		589			C2H2-type 16.		E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1767G>A	CCDS33026.2																																																																																				0.393	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1		NM_001010880		4	251	0	0	0	0.000602	0	4	251		
CYP2A6	1548	broad.mit.edu	37	19	41351241	41351241	+	Silent	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:41351241T>C	ENST00000301141.5	-	7	1139	c.1119A>G	c.(1117-1119)agA>agG	p.R373R	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	373					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCTTTTTGACTCTGCGGGCCA	0.572																																						uc002opl.3		NaN																	0				ovary(2)	2						c.(1117-1119)AGA>AGG		cytochrome P450, family 2, subfamily A,	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						121.0	117.0	118.0					19																	41351241		2203	4300	6503	SO:0001819	synonymous_variant	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41351241T>C	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.1119A>G	19.37:g.41351241T>C						CYP2A6_uc010ehe.1_Silent_p.R169R	p.R373R	NM_000762	NP_000753	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		7	1140	-			373					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Silent	SNP	ENST00000301141.5	37	c.1119A>G	CCDS12568.1																																																																																				0.572	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1		NM_000762		5	270	0	0	0	0.008291	0	5	270		
CIC	23152	broad.mit.edu	37	19	42796294	42796294	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:42796294G>C	ENST00000575354.2	+	12	2983	c.2943G>C	c.(2941-2943)ctG>ctC	p.L981L	CIC_ENST00000160740.3_Silent_p.L981L|CIC_ENST00000572681.2_Silent_p.L1890L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	981	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCCGCCCCTGAGCCCAGCCA	0.652			"""Mis, F, S"""		oligodendroglioma																																	uc002otf.1		NaN		Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		0				ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(2941-2943)CTG>CTC		capicua homolog							52.0	59.0	57.0					19																	42796294		2203	4297	6500	SO:0001819	synonymous_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796294G>C	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2943G>C	19.37:g.42796294G>C							p.L981L	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			12	2983	+		Prostate(69;0.00682)	981			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	c.2943G>C	CCDS12601.1																																																																																				0.652	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2				80	64	0	0	0	0.00361	0	80	64		
ZNF230	7773	broad.mit.edu	37	19	44514657	44514657	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:44514657G>C	ENST00000429154.2	+	5	694	c.466G>C	c.(466-468)Gat>Cat	p.D156H		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	156	KRNB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TGCCATCTTTGATCCTCCTCA	0.453																																					GBM(175;914 2069 22996 47111 52600)	uc002oyb.1		NaN																	0					0						c.(466-468)GAT>CAT		zinc finger protein 230							148.0	142.0	144.0					19																	44514657		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44514657G>C	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.466G>C	19.37:g.44514657G>C	ENSP00000409318:p.Asp156His						p.D156H	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			5	717	+		Prostate(69;0.0352)	156			KRNB.		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.466G>C	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698890	0.30142	.	.	ENSG00000159882	ENST00000429154	T	0.15017	2.46	1.89	-0.82	0.10826	.	.	.	.	.	T	0.17831	0.0428	N	0.21373	0.66	0.09310	N	1	D	0.67145	0.996	P	0.61201	0.885	T	0.13495	-1.0507	9	0.45353	T	0.12	.	3.0761	0.06247	0.4406:0.2291:0.3303:0.0	.	156	Q9UIE0	ZN230_HUMAN	H	156	ENSP00000409318:D156H	ENSP00000409318:D156H	D	+	1	0	ZNF230	49206497	0.000000	0.05858	0.000000	0.03702	0.168000	0.22595	-0.821000	0.04452	-0.310000	0.08766	0.205000	0.17691	GAT		0.453	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1				79	117	0	0	0	0.00361	0	79	117		
ZNF223	7766	broad.mit.edu	37	19	44571265	44571265	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:44571265C>G	ENST00000434772.3	+	5	1539	c.1284C>G	c.(1282-1284)ttC>ttG	p.F428L	ZNF223_ENST00000591793.1_Missense_Mutation_p.F538L	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	428					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(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AAAAACCATTCAAATGTGAGG	0.408																																						uc002oyf.1		NaN																	0				ovary(1)	1						c.(1282-1284)TTC>TTG		zinc finger protein 223							106.0	107.0	107.0					19																	44571265		2203	4300	6503	SO:0001583	missense	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44571265C>G	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1284C>G	19.37:g.44571265C>G	ENSP00000401947:p.Phe428Leu					ZNF284_uc010ejd.2_RNA	p.F428L	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN			5	1537	+		Prostate(69;0.0352)	428			C2H2-type 10; degenerate.		Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	c.1284C>G	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570713	0.28003	.	.	ENSG00000178386	ENST00000434772	T	0.36878	1.23	2.46	-4.59	0.03400	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35278	0.0926	M	0.74647	2.275	0.09310	N	1	B	0.19935	0.04	B	0.20955	0.032	T	0.44314	-0.9336	9	0.62326	D	0.03	.	9.677	0.40047	0.0:0.3669:0.0:0.6331	.	428	Q9UK11	ZN223_HUMAN	L	428	ENSP00000401947:F428L	ENSP00000401947:F428L	F	+	3	2	ZNF223	49263105	0.000000	0.05858	0.001000	0.08648	0.319000	0.28217	-0.743000	0.04845	-0.925000	0.03775	0.313000	0.20887	TTC		0.408	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2				60	66	0	0	0	0.00361	0	60	66		
CEACAM19	56971	broad.mit.edu	37	19	45175238	45175238	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:45175238C>T	ENST00000403660.3	+	1	245	c.35C>T	c.(34-36)tCa>tTa	p.S12L	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000358777.4_Missense_Mutation_p.S12L			Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	12						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				GGCTGCTTCTCAAAGAGCCTC	0.562																																						uc002ozo.3		NaN																	0					0						c.(34-36)TCA>TTA		carcinoembryonic antigen-related cell adhesion							28.0	28.0	28.0					19																	45175238		2203	4300	6503	SO:0001583	missense	56971					integral to membrane		g.chr19:45175238C>T	AF406955	CCDS12641.1, CCDS46108.1	19q13.31	2013-01-11			ENSG00000186567	ENSG00000186567		"""Immunoglobulin superfamily / V-set domain containing"""	31951	protein-coding gene	gene with protein product		606691					Standard	NM_020219		Approved	CEAL1	uc002ozo.4	Q7Z692	OTTHUMG00000151528	ENST00000403660.3:c.35C>T	19.37:g.45175238C>T	ENSP00000384887:p.Ser12Leu					CEACAM19_uc002ozp.3_Missense_Mutation_p.S12L	p.S12L	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN			1	515	+	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)	12					Q5XJ15|Q7Z693	Missense_Mutation	SNP	ENST00000403660.3	37	c.35C>T	CCDS12641.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822443	0.50739	.	.	ENSG00000186567	ENST00000358777;ENST00000403660	T;T	0.02498	4.27;4.27	3.33	1.07	0.20283	.	0.245124	0.21253	N	0.077609	T	0.02119	0.0066	L	0.27053	0.805	0.09310	N	1	P;P	0.37466	0.596;0.596	B;B	0.35470	0.203;0.203	T	0.46275	-0.9203	10	0.56958	D	0.05	-3.56	5.8168	0.18497	0.2247:0.5574:0.2179:0.0	.	12;12	Q5XJ15;Q7Z692	.;CEA19_HUMAN	L	12	ENSP00000351627:S12L;ENSP00000384887:S12L	ENSP00000351627:S12L	S	+	2	0	CEACAM19	49867078	0.000000	0.05858	0.011000	0.14972	0.711000	0.40976	0.343000	0.19944	0.371000	0.24564	0.555000	0.69702	TCA		0.562	CEACAM19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323022.1		NM_020219		12	17	0	0	0	0.00499	0	12	17		
GIPR	2696	broad.mit.edu	37	19	46178078	46178078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:46178078G>A	ENST00000590918.1	+	7	726	c.627G>A	c.(625-627)tgG>tgA	p.W209*	GIPR_ENST00000263281.3_Nonsense_Mutation_p.W209*|GIPR_ENST00000304207.8_Nonsense_Mutation_p.W173*|MIR642A_ENST00000385039.1_RNA	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	209					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TTGCGCTGTGGAACCAGGTGG	0.577																																						uc002pcu.1		NaN																	0				skin(1)	1						c.(625-627)TGG>TGA		gastric inhibitory polypeptide receptor							68.0	58.0	61.0					19																	46178078		2203	4300	6503	SO:0001587	stop_gained	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46178078G>A		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.627G>A	19.37:g.46178078G>A	ENSP00000467494:p.Trp209*					GIPR_uc002pct.1_Nonsense_Mutation_p.W209*|GIPR_uc010xxp.1_Nonsense_Mutation_p.W173*|GIPR_uc010xxq.1_RNA|MIR642_hsa-mir-642|MI0003657_5'Flank	p.W209*	NM_000164	NP_000155	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	7	726	+		Ovarian(192;0.051)|all_neural(266;0.112)	209			Extracellular (Potential).		B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Nonsense_Mutation	SNP	ENST00000590918.1	37	c.627G>A	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990896	0.54041	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	.	.	.	4.53	3.41	0.39046	.	0.285191	0.25813	N	0.028140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	9.2769	0.37705	0.0:0.0:0.7853:0.2147	.	.	.	.	X	209;173	.	ENSP00000263281:W209X	W	+	3	0	GIPR	50869918	0.997000	0.39634	0.978000	0.43139	0.202000	0.24057	1.555000	0.36277	2.508000	0.84585	0.561000	0.74099	TGG		0.577	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1				20	61	0	0	0	0.004656	0	20	61		
TULP2	7288	broad.mit.edu	37	19	49392787	49392787	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:49392787C>T	ENST00000221399.3	-	7	760	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	206					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GCCAAGTTTTCATATACACAG	0.502																																						uc002pkz.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(616-618)GAA>AAA		tubby like protein 2							222.0	181.0	195.0					19																	49392787		2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49392787C>T	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.616G>A	19.37:g.49392787C>T	ENSP00000221399:p.Glu206Lys						p.E206K	NM_003323	NP_003314	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	7	767	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	206					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.616G>A	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218590	0.39201	.	.	ENSG00000104804	ENST00000221399;ENST00000518572;ENST00000522945;ENST00000520977	D;T;T;T	0.82526	-1.62;2.23;1.43;0.78	3.41	3.41	0.39046	.	343.072000	0.00166	N	0.000000	T	0.65903	0.2736	N	0.08118	0	0.09310	N	1	B	0.34061	0.436	B	0.23852	0.049	T	0.59736	-0.7398	10	0.08381	T	0.77	-11.5975	10.6756	0.45783	0.0:1.0:0.0:0.0	.	206	O00295	TULP2_HUMAN	K	206;160;203;187	ENSP00000221399:E206K;ENSP00000428420:E160K;ENSP00000430040:E203K;ENSP00000428535:E187K	ENSP00000221399:E206K	E	-	1	0	TULP2	54084599	0.004000	0.15560	0.034000	0.17996	0.007000	0.05969	1.592000	0.36676	2.218000	0.71995	0.545000	0.68477	GAA		0.502	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1		NM_003323		65	135	0	0	0	0.00361	0	65	135		
ZNF766	90321	broad.mit.edu	37	19	52785369	52785369	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:52785369C>T	ENST00000439461.1	+	2	67	c.24C>T	c.(22-24)caC>caT	p.H8H	CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000600821.1_Silent_p.H3H|ZNF766_ENST00000593612.1_Silent_p.H23H|MIR643_ENST00000385267.1_RNA|ZNF766_ENST00000359102.4_Silent_p.H23H|ZNF766_ENST00000599581.1_Silent_p.H8H	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TTTAGGGACACTTGACATTCA	0.438																																						uc002pyr.1		NaN																	0					0						c.(22-24)CAC>CAT		zinc finger protein 766							231.0	240.0	237.0					19																	52785369		2203	4300	6503	SO:0001819	synonymous_variant	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52785369C>T	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.24C>T	19.37:g.52785369C>T						ZNF766_uc002pys.1_Silent_p.H8H|ZNF766_uc002pyt.1_Silent_p.H23H	p.H8H	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	2	67	+			8					B2RNE0|Q7Z326	Silent	SNP	ENST00000439461.1	37	c.24C>T	CCDS46163.1																																																																																				0.438	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1		NM_001010851		147	163	0	0	0	0.00361	0	147	163		
ZNF480	147657	broad.mit.edu	37	19	52824897	52824897	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:52824897T>A	ENST00000595962.1	+	5	460	c.394T>A	c.(394-396)Ttt>Att	p.F132I	ZNF480_ENST00000334564.7_Missense_Mutation_p.F89I|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_Silent_p.P46P|ZNF480_ENST00000335090.6_Missense_Mutation_p.F55I	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGGAGTATCCTTTCACTTACA	0.378																																						uc010ydl.1		NaN																	0				large_intestine(1)	1						c.(394-396)TTT>ATT		zinc finger protein 480							79.0	73.0	75.0					19																	52824897		2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52824897T>A	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.394T>A	19.37:g.52824897T>A	ENSP00000471754:p.Phe132Ile					ZNF480_uc002pyv.2_Missense_Mutation_p.F55I|ZNF480_uc010ydm.1_Missense_Mutation_p.F89I|ZNF480_uc010epn.2_5'UTR|uc002pyw.1_Intron	p.F132I	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	464	+			132					Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.394T>A	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	T	10.19	1.281297	0.23392	.	.	ENSG00000198464	ENST00000354515;ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.07327	3.4;3.4;3.2	1.85	0.723	0.18231	.	.	.	.	.	T	0.07863	0.0197	L	0.52011	1.625	0.09310	N	1	P;P	0.42584	0.784;0.524	B;B	0.43274	0.414;0.095	T	0.26573	-1.0099	9	0.19590	T	0.45	.	2.4795	0.04584	0.0:0.1832:0.2964:0.5203	.	89;132	F8WEZ9;Q8WV37	.;ZN480_HUMAN	I	154;132;89;55	ENSP00000417424:F132I;ENSP00000334164:F89I;ENSP00000335670:F55I	ENSP00000334164:F89I	F	+	1	0	ZNF480	57516709	0.000000	0.05858	0.001000	0.08648	0.097000	0.18754	-0.377000	0.07456	-0.017000	0.14103	0.260000	0.18958	TTT		0.378	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3		NM_144684		14	78	0	0	0	0.006122	0	14	78		
ZNF761	388561	broad.mit.edu	37	19	53959484	53959484	+	RNA	SNP	G	G	C	rs377588768		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:53959484G>C	ENST00000454407.1	+	0	2176							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATAGTGGAGAGAACCCTTA	0.383																																						uc010eqp.2		NaN																	0				ovary(1)	1						c.(1723-1725)GAG>CAG		zinc finger protein 761							93.0	95.0	94.0					19																	53959484		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959484G>C	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959484G>C						ZNF761_uc010ydy.1_Missense_Mutation_p.E521Q|ZNF761_uc002qbt.1_Missense_Mutation_p.E521Q	p.E575Q	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	2181	+			575					Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.1723G>C																																																																																					0.383	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript			NM_001008401		11	91	0	0	0	0.010729	0	11	91		
USP29	57663	broad.mit.edu	37	19	57642777	57642777	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:57642777G>A	ENST00000254181.4	+	4	3188	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	USP29_ENST00000598197.1_Missense_Mutation_p.E912K|U3_ENST00000516874.1_RNA	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	912					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCTCAGGGGGAATACGAAGG	0.468																																						uc002qny.2		NaN																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(2734-2736)GAA>AAA		ubiquitin specific peptidase 29							65.0	74.0	71.0					19																	57642777		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642777G>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2734G>A	19.37:g.57642777G>A	ENSP00000254181:p.Glu912Lys						p.E912K	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	3090	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	912						Missense_Mutation	SNP	ENST00000254181.4	37	c.2734G>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	9.315	1.056554	0.19907	.	.	ENSG00000131864	ENST00000254181	T	0.50001	0.76	2.3	0.043	0.14220	.	.	.	.	.	T	0.22589	0.0545	N	0.04880	-0.145	0.09310	N	1	B	0.18013	0.025	B	0.10450	0.005	T	0.18366	-1.0339	9	0.72032	D	0.01	0.2964	3.6311	0.08131	0.1591:0.2608:0.5801:0.0	.	912	Q9HBJ7	UBP29_HUMAN	K	912	ENSP00000254181:E912K	ENSP00000254181:E912K	E	+	1	0	USP29	62334589	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.407000	0.07178	0.073000	0.16731	-0.226000	0.12346	GAA		0.468	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1				76	92	0	0	0	0.00361	0	76	92		
ZNF544	27300	broad.mit.edu	37	19	58772798	58772799	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:58772798_58772799GG>AT	ENST00000596652.1	+	6	1060_1061	c.826_827GG>AT	c.(826-828)GGa>ATa	p.G276I	ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.G248I|ZNF544_ENST00000415203.2_Missense_Mutation_p.G248I|ZNF544_ENST00000599953.1_Missense_Mutation_p.G134I|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.G248I|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000269829.4_Missense_Mutation_p.G276I|ZNF544_ENST00000599227.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TAAGGATTATGGAAACCTCTTC	0.411																																						uc010euo.2		NaN																	0				pancreas(1)	1						c.(826-828)GGA>ATA		zinc finger protein 544																																				SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772798_58772799GG>AT	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		Exception_encountered	19.37:g.58772798_58772799delinsAT	ENSP00000469635:p.Gly276Ile					ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.G248I|ZNF544_uc010yhy.1_Missense_Mutation_p.G248I|ZNF544_uc002qrt.3_Missense_Mutation_p.G134I|ZNF544_uc002qru.3_Missense_Mutation_p.G134I|uc002qrx.1_Intron	p.G276I	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1300_1301	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	276					A8K6J1|Q9UEX4	Missense_Mutation	DNP	ENST00000596652.1	37	c.826_827GG>AT	CCDS12973.1																																																																																				0.411	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1		NM_014480		13	82	0	0	0	0.004672	0	13	82		
LAPTM4A	9741	broad.mit.edu	37	2	20251207	20251207	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:20251207G>C	ENST00000175091.4	-	1	582	c.75C>G	c.(73-75)gtC>gtG	p.V25V	RP11-644K8.1_ENST00000452342.2_RNA	NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	25					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCGGTGCGGACATGGCAAC	0.667																																					Ovarian(90;1240 1386 7711 14384 46863)	uc002rdm.2		NaN																	0				ovary(1)	1						c.(73-75)GTC>GTG		lysosomal protein transmembrane 4 alpha							39.0	34.0	36.0					2																	20251207		2203	4300	6503	SO:0001819	synonymous_variant	9741				transport	endomembrane system|Golgi apparatus|integral to membrane		g.chr2:20251207G>C	D14696	CCDS1696.1	2p24.1	2008-08-11	2008-08-11		ENSG00000068697	ENSG00000068697			6924	protein-coding gene	gene with protein product			"""lysosomal-associated protein transmembrane 4 alpha"""	MBNT		8621662, 7788527	Standard	NM_014713		Approved	HUMORF13, KIAA0108, Mtrp, LAPTM4	uc002rdm.3	Q15012	OTTHUMG00000090750	ENST00000175091.4:c.75C>G	2.37:g.20251207G>C						LAPTM4A_uc002rdn.2_5'UTR|LAPTM4A_uc010yjx.1_Silent_p.V25V	p.V25V	NM_014713	NP_055528	Q15012	LAP4A_HUMAN			1	583	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		25					Q6UW22	Silent	SNP	ENST00000175091.4	37	c.75C>G	CCDS1696.1																																																																																				0.667	LAPTM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207494.1		NM_014713		17	16	0	0	0	0.002299	0	17	16		
LAPTM4A	9741	broad.mit.edu	37	2	20251240	20251240	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:20251240G>A	ENST00000175091.4	-	1	549	c.42C>T	c.(40-42)ttC>ttT	p.F14F	RP11-644K8.1_ENST00000452342.2_RNA	NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	14					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTGCTGTAGAACCGGTCAC	0.642																																					Ovarian(90;1240 1386 7711 14384 46863)	uc002rdm.2		NaN																	0				ovary(1)	1						c.(40-42)TTC>TTT		lysosomal protein transmembrane 4 alpha							48.0	40.0	43.0					2																	20251240		2203	4300	6503	SO:0001819	synonymous_variant	9741				transport	endomembrane system|Golgi apparatus|integral to membrane		g.chr2:20251240G>A	D14696	CCDS1696.1	2p24.1	2008-08-11	2008-08-11		ENSG00000068697	ENSG00000068697			6924	protein-coding gene	gene with protein product			"""lysosomal-associated protein transmembrane 4 alpha"""	MBNT		8621662, 7788527	Standard	NM_014713		Approved	HUMORF13, KIAA0108, Mtrp, LAPTM4	uc002rdm.3	Q15012	OTTHUMG00000090750	ENST00000175091.4:c.42C>T	2.37:g.20251240G>A						LAPTM4A_uc002rdn.2_5'UTR|LAPTM4A_uc010yjx.1_Silent_p.F14F	p.F14F	NM_014713	NP_055528	Q15012	LAP4A_HUMAN			1	550	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		14					Q6UW22	Silent	SNP	ENST00000175091.4	37	c.42C>T	CCDS1696.1																																																																																				0.642	LAPTM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207494.1		NM_014713		13	15	0	0	0	0.00499	0	13	15		
SDC1	6382	broad.mit.edu	37	2	20405149	20405149	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:20405149C>T	ENST00000254351.4	-	2	347	c.103G>A	c.(103-105)Gat>Aat	p.D35N	SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Missense_Mutation_p.D35N|SDC1_ENST00000381150.1_Missense_Mutation_p.D35N	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	35					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CCAGAGCCATCTTGATCTTCA	0.557																																						uc002rdo.1		NaN																	0				ovary(4)|skin(1)	5						c.(103-105)GAT>AAT		syndecan 1 precursor							83.0	85.0	84.0					2																	20405149		2203	4300	6503	SO:0001583	missense	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20405149C>T	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.103G>A	2.37:g.20405149C>T	ENSP00000254351:p.Asp35Asn					SDC1_uc002rdp.1_Missense_Mutation_p.D35N|SDC1_uc010exv.2_Missense_Mutation_p.D35N|SDC1_uc010exw.1_RNA	p.D35N	NM_002997	NP_002988	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	2	402	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		35			Extracellular (Potential).		D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	c.103G>A	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627121	0.87560	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000403076;ENST00000429035	T;T;T;T	0.67171	1.68;1.68;-0.18;-0.25	4.46	4.46	0.54185	.	0.000000	0.53938	D	0.000045	T	0.81039	0.4740	M	0.73598	2.24	0.43555	D	0.99586	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	D	0.83722	0.0193	10	0.87932	D	0	-22.4067	15.4034	0.74858	0.0:1.0:0.0:0.0	.	35;35	E9PHH3;P18827	.;SDC1_HUMAN	N	35;35;35;43	ENSP00000254351:D35N;ENSP00000370542:D35N;ENSP00000384613:D35N;ENSP00000400773:D43N	ENSP00000254351:D35N	D	-	1	0	SDC1	20268630	0.998000	0.40836	0.962000	0.40283	0.796000	0.44982	5.189000	0.65098	2.415000	0.81967	0.462000	0.41574	GAT		0.557	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1		NM_001006946		50	114	0	0	0	0.00361	0	50	114		
ASXL2	55252	broad.mit.edu	37	2	25990551	25990551	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:25990551G>A	ENST00000435504.4	-	8	969	c.676C>T	c.(676-678)Caa>Taa	p.Q226*	ASXL2_ENST00000497092.1_5'Flank|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.Q198*|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000404843.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	226	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGAGTTTTGAGGGCTGCCT	0.418																																						uc002rgs.2		NaN																	0				pancreas(1)	1						c.(676-678)CAA>TAA		additional sex combs like 2							151.0	146.0	147.0					2																	25990551		1871	4103	5974	SO:0001587	stop_gained	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25990551G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.676C>T	2.37:g.25990551G>A	ENSP00000391447:p.Gln226*					ASXL2_uc002rgt.1_5'UTR	p.Q226*	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			7	897	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		226			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Nonsense_Mutation	SNP	ENST00000435504.4	37	c.676C>T		.	.	.	.	.	.	.	.	.	.	G	37	5.981594	0.97168	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	.	.	.	5.63	5.63	0.86233	.	0.591876	0.15914	N	0.238471	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.7599	18.2734	0.90076	0.0:0.0:1.0:0.0	.	.	.	.	X	226;198	.	ENSP00000337250:Q198X	Q	-	1	0	ASXL2	25844055	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	7.046000	0.76592	2.652000	0.90054	0.655000	0.94253	CAA		0.418	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3		NM_018263		77	12	0	0	0	0.00361	0	77	12		
TMEM214	54867	broad.mit.edu	37	2	27260564	27260564	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:27260564G>A	ENST00000238788.9	+	9	1208	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	TMEM214_ENST00000404032.3_Silent_p.K337K	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	382					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CTGAGATGAAGAAAGAGGTGA	0.547																																						uc002ria.3		NaN																	0					0						c.(1144-1146)AAG>AAA		transmembrane protein 214 isoform 1							90.0	91.0	91.0					2																	27260564		1893	4114	6007	SO:0001819	synonymous_variant	54867					integral to membrane	protein binding	g.chr2:27260564G>A		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1146G>A	2.37:g.27260564G>A						TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Silent_p.K337K	p.K382K	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN			9	1256	+			382					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	c.1146G>A	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	G	9.281	1.048219	0.19827	.	.	ENSG00000119777	ENST00000425720	.	.	.	5.69	3.9	0.45041	.	.	.	.	.	T	0.61248	0.2332	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57081	-0.7872	4	.	.	.	-14.9363	10.2191	0.43186	0.1541:0.0:0.8459:0.0	.	.	.	.	K	141	.	.	R	+	2	0	TMEM214	27114068	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.080000	0.41586	0.770000	0.33336	0.561000	0.74099	AGA		0.547	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1		NM_017727		23	98	0	0	0	0.004656	0	23	98		
EIF2AK2	5610	broad.mit.edu	37	2	37366873	37366873	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:37366873C>T	ENST00000233057.4	-	6	739	c.417G>A	c.(415-417)caG>caA	p.Q139Q	EIF2AK2_ENST00000405334.1_Silent_p.Q139Q|EIF2AK2_ENST00000395127.2_Silent_p.Q139Q	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	139	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TATATTCTTTCTGTCCCATTT	0.323																																						uc010ynh.1		NaN																	0				ovary(2)|lung(2)|pancreas(1)	5						c.(415-417)CAG>CAA		eukaryotic translation initiation factor 2-alpha							130.0	128.0	129.0					2																	37366873		2203	4300	6503	SO:0001819	synonymous_variant	5610				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37366873C>T	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.417G>A	2.37:g.37366873C>T						EIF2AK2_uc010fab.1_Silent_p.Q139Q|EIF2AK2_uc010yng.1_Silent_p.Q139Q|EIF2AK2_uc010fac.2_Silent_p.Q139Q|EIF2AK2_uc010fad.2_Silent_p.Q139Q	p.Q139Q	NM_002759	NP_002750	P19525	E2AK2_HUMAN			6	974	-		all_hematologic(82;0.248)	139			DRBM 2.		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Silent	SNP	ENST00000233057.4	37	c.417G>A	CCDS1786.1																																																																																				0.323	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2		NM_002759		8	41	0	0	0	0.006214	0	8	41		
SOCS5	9655	broad.mit.edu	37	2	46986049	46986049	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:46986049C>T	ENST00000306503.5	+	2	552	c.380C>T	c.(379-381)tCc>tTc	p.S127F	SOCS5_ENST00000394861.2_Missense_Mutation_p.S127F	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	127					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAAAAACATTCCTGTTCTACA	0.443																																						uc002rvf.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(379-381)TCC>TTC		suppressor of cytokine signaling 5							61.0	62.0	62.0					2																	46986049		2203	4300	6503	SO:0001583	missense	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986049C>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.380C>T	2.37:g.46986049C>T	ENSP00000305133:p.Ser127Phe					SOCS5_uc010yoe.1_Missense_Mutation_p.S96F|SOCS5_uc002rvg.2_Missense_Mutation_p.S127F	p.S127F	NM_014011	NP_054730	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	544	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	127					Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.380C>T	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052473	0.75960	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.37915	1.17;1.17	5.4	5.4	0.78164	.	0.059932	0.64402	D	0.000001	T	0.51534	0.1680	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.52011	-0.8632	10	0.87932	D	0	-16.918	18.9642	0.92689	0.0:1.0:0.0:0.0	.	127	O75159	SOCS5_HUMAN	F	127	ENSP00000305133:S127F;ENSP00000378330:S127F	ENSP00000305133:S127F	S	+	2	0	SOCS5	46839553	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.617000	0.67716	2.805000	0.96524	0.655000	0.94253	TCC		0.443	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2				18	37	0	0	0	0.007413	0	18	37		
FOXN2	3344	broad.mit.edu	37	2	48573386	48573386	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:48573386G>A	ENST00000340553.3	+	3	294	c.33G>A	c.(31-33)aaG>aaA	p.K11K		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	11					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CTCCAGATAAGAGAGCTGAAA	0.423																																						uc002rwh.1		NaN																	0					0						c.(31-33)AAG>AAA		T-cell leukemia virus enhancer factor							86.0	92.0	90.0					2																	48573386		2203	4300	6503	SO:0001819	synonymous_variant	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48573386G>A		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.33G>A	2.37:g.48573386G>A							p.K11K	NM_002158	NP_002149	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		3	348	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	11					Q15769|Q6P4Q2	Silent	SNP	ENST00000340553.3	37	c.33G>A	CCDS1838.1																																																																																				0.423	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3		NM_002158		76	15	0	0	0	0.00361	0	76	15		
SPTBN1	6711	broad.mit.edu	37	2	54858547	54858547	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:54858547G>A	ENST00000356805.4	+	16	3644	c.3363G>A	c.(3361-3363)atG>atA	p.M1121I	SPTBN1_ENST00000333896.5_Missense_Mutation_p.M1108I	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1121					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCAGAAGATGAGGGACATGG	0.587																																						uc002rxu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(3361-3363)ATG>ATA		spectrin, beta, non-erythrocytic 1 isoform 1							194.0	160.0	172.0					2																	54858547		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54858547G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3363G>A	2.37:g.54858547G>A	ENSP00000349259:p.Met1121Ile					SPTBN1_uc002rxx.2_Missense_Mutation_p.M1108I	p.M1121I	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		16	3612	+			1121			Spectrin 8.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.3363G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289329	0.40494	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.38560	1.13;1.13	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.36771	0.0979	L	0.33339	1.005	0.58432	D	0.999999	B;B	0.13145	0.002;0.007	B;B	0.16289	0.009;0.015	T	0.07065	-1.0792	10	0.30854	T	0.27	.	19.5375	0.95260	0.0:0.0:1.0:0.0	.	1108;1121	Q01082-3;Q01082	.;SPTB2_HUMAN	I	1121;1108	ENSP00000349259:M1121I;ENSP00000334156:M1108I	ENSP00000334156:M1108I	M	+	3	0	SPTBN1	54712051	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.620000	0.88729	0.655000	0.94253	ATG		0.587	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3				75	130	0	0	0	0.00361	0	75	130		
CCDC88A	55704	broad.mit.edu	37	2	55523009	55523009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:55523009G>A	ENST00000436346.1	-	31	6116	c.5275C>T	c.(5275-5277)Cga>Tga	p.R1759*	CCDC88A_ENST00000413716.2_Intron|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.R1731*|CCDC88A_ENST00000422883.2_Nonsense_Mutation_p.R260*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.R1758*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1759					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCAGTTTTTCGAGGACCAGGT	0.438																																						uc002ryv.2		NaN																	0				ovary(2)|skin(2)	4						c.(5272-5274)CGA>TGA		coiled-coil domain containing 88A isoform 1							82.0	85.0	84.0					2																	55523009		2203	4300	6503	SO:0001587	stop_gained	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55523009G>A	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.5275C>T	2.37:g.55523009G>A	ENSP00000410608:p.Arg1759*					CCDC88A_uc010yoz.1_Nonsense_Mutation_p.R1731*|CCDC88A_uc010ypa.1_Intron|CCDC88A_uc002ryt.2_Nonsense_Mutation_p.R49*|CCDC88A_uc010fbw.2_Nonsense_Mutation_p.R260*|CCDC88A_uc002ryu.2_Nonsense_Mutation_p.R1013*|CCDC88A_uc002rys.2_Nonsense_Mutation_p.R716*|CCDC88A_uc002ryw.2_Nonsense_Mutation_p.R1042*|CCDC88A_uc010fby.1_Nonsense_Mutation_p.R610*	p.R1758*	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			31	6114	-			1759					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Nonsense_Mutation	SNP	ENST00000436346.1	37	c.5272C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.8|29.8	5.039997|5.039997	0.93630|0.93630	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000426576|ENST00000456975	.|.	.|.	.|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.367475|.	0.19640|.	U|.	0.109471|.	.|T	.|0.74168	.|0.3681	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73694	.|-0.3902	.|3	0.02654|.	T|.	1|.	-0.2117|-0.2117	18.3883|18.3883	0.90473|0.90473	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1758;1731;1759;260;776;934|711	.|.	ENSP00000263630:R1731X|.	R|S	-|-	1|2	2|0	CCDC88A|CCDC88A	55376513|55376513	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.601000|3.601000	0.54059|0.54059	2.393000|2.393000	0.81446|0.81446	0.563000|0.563000	0.77884|0.77884	CGA|TCG		0.438	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding			NM_017571		36	43	0	0	0	0.00874	0	36	43		
SLC1A4	6509	broad.mit.edu	37	2	65217170	65217170	+	Silent	SNP	C	C	T	rs377099939		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:65217170C>T	ENST00000234256.3	+	1	636	c.393C>T	c.(391-393)ctC>ctT	p.L131L	SLC1A4_ENST00000493121.1_Intron|SLC1A4_ENST00000531327.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	131					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CCTCGGCGCTCGCCGTGGCCT	0.687																																						uc010yqa.1		NaN																	0				pancreas(1)	1						c.(391-393)CTC>CTT		solute carrier family 1, member 4 isoform 1	L-Alanine(DB00160)						18.0	19.0	19.0					2																	65217170		2203	4299	6502	SO:0001819	synonymous_variant	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65217170C>T		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.393C>T	2.37:g.65217170C>T						SLC1A4_uc010ypy.1_Intron|SLC1A4_uc010ypz.1_Intron|SLC1A4_uc010fcv.2_Silent_p.L131L	p.L131L	NM_003038	NP_003029	P43007	SATT_HUMAN			1	715	+			131			Helical; (Potential).		B7Z3C0|D6W5F0	Silent	SNP	ENST00000234256.3	37	c.393C>T	CCDS1879.1																																																																																				0.687	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2		NM_003038		21	3	0	0	0	0.004656	0	21	3		
DYSF	8291	broad.mit.edu	37	2	71730410	71730410	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:71730410C>T	ENST00000258104.3	+	4	580	c.303C>T	c.(301-303)ttC>ttT	p.F101F	DYSF_ENST00000409366.1_Silent_p.F102F|DYSF_ENST00000409744.1_Silent_p.F102F|DYSF_ENST00000409762.1_Silent_p.F101F|DYSF_ENST00000413539.2_Silent_p.F101F|DYSF_ENST00000394120.2_Silent_p.F102F|DYSF_ENST00000409651.1_Silent_p.F102F|DYSF_ENST00000410020.3_Silent_p.F102F|DYSF_ENST00000429174.2_Silent_p.F101F|DYSF_ENST00000410041.1_Silent_p.F102F|DYSF_ENST00000409582.3_Silent_p.F101F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	101					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCGCCAGCTTCAATGCCCCCC	0.577																																						uc002sie.2		NaN																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(301-303)TTC>TTT		dysferlin isoform 8							107.0	105.0	106.0					2																	71730410		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71730410C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.303C>T	2.37:g.71730410C>T						DYSF_uc010feg.2_Silent_p.F101F|DYSF_uc010feh.2_Silent_p.F101F|DYSF_uc002sig.3_Silent_p.F101F|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.F101F|DYSF_uc010fef.2_Silent_p.F101F|DYSF_uc010fei.2_Silent_p.F101F|DYSF_uc010fek.2_Silent_p.F102F|DYSF_uc010fej.2_Silent_p.F102F|DYSF_uc010fel.2_Silent_p.F102F|DYSF_uc010feo.2_Silent_p.F102F|DYSF_uc010fem.2_Silent_p.F102F|DYSF_uc010fen.2_Silent_p.F102F|DYSF_uc002sif.2_Silent_p.F102F	p.F101F	NM_003494	NP_003485	O75923	DYSF_HUMAN			4	679	+			101			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.303C>T	CCDS1918.1																																																																																				0.577	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3		NM_003494		219	31	0	0	0	0.00361	0	219	31		
DYSF	8291	broad.mit.edu	37	2	71776507	71776507	+	Missense_Mutation	SNP	C	C	T	rs144931729	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:71776507C>T	ENST00000258104.3	+	17	1785	c.1508C>T	c.(1507-1509)tCg>tTg	p.S503L	DYSF_ENST00000409366.1_Missense_Mutation_p.S504L|DYSF_ENST00000409744.1_Intron|DYSF_ENST00000409762.1_Intron|DYSF_ENST00000413539.2_Missense_Mutation_p.S534L|DYSF_ENST00000394120.2_Missense_Mutation_p.S504L|DYSF_ENST00000409651.1_Missense_Mutation_p.S535L|DYSF_ENST00000410020.3_Intron|DYSF_ENST00000429174.2_Missense_Mutation_p.S503L|DYSF_ENST00000410041.1_Intron|DYSF_ENST00000409582.3_Intron	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	503					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTCAAGCCTTCGAAAGCCTCA	0.577																																						uc002sie.2		NaN																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(1507-1509)TCG>TTG		dysferlin isoform 8		C	LEU/SER,,,LEU/SER,LEU/SER,,,LEU/SER,LEU/SER,,,,,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	68.0	62.0	64.0		1511,,,1508,1601,,,1604,1511,,,,,1508	3.3	0.6	2	dbSNP_134	64	0,8600		0,0,4300	no	missense,intron,intron,missense,missense,intron,intron,missense,missense,intron,intron,intron,intron,missense	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	145,,,145,145,,,145,145,,,,,145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,,,,,,,,,,,	504/2082,,,503/2102,534/2112,,,535/2113,504/2103,,,,,503/2081	71776507	2,13004	2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71776507C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1508C>T	2.37:g.71776507C>T	ENSP00000258104:p.Ser503Leu					DYSF_uc010feg.2_Missense_Mutation_p.S534L|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.S503L|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Missense_Mutation_p.S535L|DYSF_uc010fem.2_Missense_Mutation_p.S504L|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Missense_Mutation_p.S504L	p.S503L	NM_003494	NP_003485	O75923	DYSF_HUMAN			17	1884	+			503			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.1508C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	5.105	0.205079	0.09704	4.54E-4	0.0	ENSG00000135636	ENST00000413539;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409366	D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.23	3.32	0.38043	C2 calcium/lipid-binding domain, CaLB (1);	1.567770	0.03508	N	0.219155	T	0.68622	0.3021	N	0.14661	0.345	0.09310	N	0.999998	B;B;B;B;B;B	0.06786	0.001;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001;0.0	T	0.57997	-0.7714	10	0.13470	T	0.59	.	5.45	0.16560	0.199:0.7008:0.0:0.1002	.	535;504;534;503;504;503	O75923-8;O75923-10;O75923-2;O75923-4;O75923-14;O75923	.;.;.;.;.;DYSF_HUMAN	L	534;503;503;535;504;504	ENSP00000407046:S534L;ENSP00000398305:S503L;ENSP00000258104:S503L;ENSP00000386683:S535L;ENSP00000377678:S504L;ENSP00000386512:S504L	ENSP00000258104:S503L	S	+	2	0	DYSF	71630015	0.007000	0.16637	0.591000	0.28745	0.657000	0.38888	1.161000	0.31773	2.612000	0.88384	0.655000	0.94253	TCG		0.577	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3		NM_003494		36	6	0	0	0	0.010771	0	36	6		
TET3	200424	broad.mit.edu	37	2	74326619	74326619	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:74326619C>T	ENST00000409262.3	+	8	3079	c.3079C>T	c.(3079-3081)Cgg>Tgg	p.R1027W		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1027					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCCGCCAGCGGCAGCTGGA	0.637																																						uc002skb.3		NaN																	0					0						c.(3079-3081)CGG>TGG		tet oncogene family member 3							14.0	19.0	18.0					2																	74326619		1952	4115	6067	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74326619C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3079C>T	2.37:g.74326619C>T	ENSP00000386869:p.Arg1027Trp						p.R1027W	NM_144993	NP_659430	O43151	TET3_HUMAN			8	3079	+			1027					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.3079C>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091306	0.76756	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.19105	2.17	5.06	5.06	0.68205	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.000000	0.85682	D	0.000000	T	0.44286	0.1286	M	0.76170	2.325	0.51767	D	0.99993	D	0.89917	1.0	D	0.78314	0.991	T	0.38265	-0.9669	10	0.87932	D	0	.	10.8714	0.46885	0.2932:0.7068:0.0:0.0	.	1027	O43151	TET3_HUMAN	W	1027	ENSP00000386869:R1027W	ENSP00000233310:R1027W	R	+	1	2	TET3	74180127	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.849000	0.48286	2.632000	0.89209	0.655000	0.94253	CGG		0.637	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4				19	15	0	0	0	0.003954	0	19	15		
BOLA3	388962	broad.mit.edu	37	2	74369455	74369455	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:74369455C>G	ENST00000327428.5	-	3	321	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q	BOLA3_ENST00000295326.4_Intron	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3	68						extracellular region (GO:0005576)				large_intestine(1)|lung(1)	2						TCTTCTGATTCAATTTTAATT	0.423																																						uc002skc.1		NaN																	0					0						c.(202-204)GAA>CAA		bolA-like 3 isoform 1							118.0	107.0	111.0					2																	74369455		2202	4300	6502	SO:0001583	missense	388962					extracellular region		g.chr2:74369455C>G	BC017744	CCDS33224.1, CCDS33225.1	2p13.1	2013-09-02	2013-09-02		ENSG00000163170	ENSG00000163170			24415	protein-coding gene	gene with protein product		613183	"""bolA-like 3 (E. coli)"", ""bolA homolog 3 (E. coli)"""			14718656	Standard	NM_001035505		Approved		uc002skc.1	Q53S33	OTTHUMG00000152834	ENST00000327428.5:c.202G>C	2.37:g.74369455C>G	ENSP00000331369:p.Glu68Gln					BOLA3_uc002skd.1_Intron	p.E68Q	NM_212552	NP_997717	Q53S33	BOLA3_HUMAN			3	240	-			68					G3XAB0	Missense_Mutation	SNP	ENST00000327428.5	37	c.202G>C	CCDS33225.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628816	0.87560	.	.	ENSG00000163170	ENST00000327428	T	0.62788	-0.0	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	L	0.48218	1.51	0.80722	D	1	D	0.62365	0.991	P	0.62089	0.898	T	0.69439	-0.5145	10	0.42905	T	0.14	-19.4264	17.8559	0.88762	0.0:1.0:0.0:0.0	.	68	Q53S33	BOLA3_HUMAN	Q	68	ENSP00000331369:E68Q	ENSP00000331369:E68Q	E	-	1	0	BOLA3	74222963	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	6.232000	0.72313	2.894000	0.99253	0.655000	0.94253	GAA		0.423	BOLA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328207.2		NM_212552		34	65	0	0	0	0.010771	0	34	65		
MOGS	7841	broad.mit.edu	37	2	74689799	74689799	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:74689799C>G	ENST00000233616.4	-	4	1279	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000452063.2_Missense_Mutation_p.E267Q	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	373					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AAGGTCTTCTCAAAGCGCTCT	0.587																																						uc010ffj.2		NaN																	0					0						c.(1117-1119)GAG>CAG		mannosyl-oligosaccharide glucosidase isoform 1							85.0	90.0	88.0					2																	74689799		1934	4134	6068	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689799C>G	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1117G>C	2.37:g.74689799C>G	ENSP00000233616:p.Glu373Gln					MOGS_uc010ffh.2_Missense_Mutation_p.E98Q|MOGS_uc010yrt.1_Missense_Mutation_p.E254Q|MOGS_uc010ffi.2_Missense_Mutation_p.E267Q	p.E373Q	NM_006302	NP_006293	Q13724	MOGS_HUMAN			4	1280	-			373			Lumenal (Potential).		A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.1117G>C	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580741	0.46006	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666	T;T;T	0.39406	1.08;1.08;1.08	4.73	4.73	0.59995	.	0.057641	0.64402	D	0.000002	T	0.42653	0.1212	L	0.43646	1.37	0.80722	D	1	D	0.52996	0.957	P	0.50490	0.642	T	0.17107	-1.0380	10	0.36615	T	0.2	-21.8144	11.0114	0.47665	0.0:0.8117:0.1883:0.0	.	373	Q13724	MOGS_HUMAN	Q	373;267;267	ENSP00000233616:E373Q;ENSP00000388201:E267Q;ENSP00000410992:E267Q	ENSP00000233616:E373Q	E	-	1	0	MOGS	74543307	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.138000	0.64795	2.458000	0.83093	0.655000	0.94253	GAG		0.587	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1		NM_006302		33	108	0	0	0	0.010818	0	33	108		
MOGS	7841	broad.mit.edu	37	2	74689864	74689864	+	Missense_Mutation	SNP	C	C	G	rs368536824		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:74689864C>G	ENST00000233616.4	-	4	1214	c.1052G>C	c.(1051-1053)aGa>aCa	p.R351T	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000452063.2_Missense_Mutation_p.R245T	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	351					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GCCTGCCAGTCTTGGCAGGGC	0.532																																						uc010ffj.2		NaN																	0					0						c.(1051-1053)AGA>ACA		mannosyl-oligosaccharide glucosidase isoform 1		C	THR/ARG,THR/ARG	1,3897		0,1,1948	86.0	92.0	90.0		734,1052	-2.0	0.2	2		90	0,8280		0,0,4140	no	missense,missense	MOGS	NM_001146158.1,NM_006302.2	71,71	0,1,6088	GG,GC,CC		0.0,0.0257,0.0082	benign,benign	245/732,351/838	74689864	1,12177	1949	4140	6089	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689864C>G	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1052G>C	2.37:g.74689864C>G	ENSP00000233616:p.Arg351Thr					MOGS_uc010ffh.2_Missense_Mutation_p.R76T|MOGS_uc010yrt.1_Missense_Mutation_p.R232T|MOGS_uc010ffi.2_Missense_Mutation_p.R245T	p.R351T	NM_006302	NP_006293	Q13724	MOGS_HUMAN			4	1215	-			351			Lumenal (Potential).		A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.1052G>C	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	C	0.196	-1.049131	0.01981	2.57E-4	0.0	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666	T;T;T	0.37584	1.19;1.19;1.19	4.73	-2.04	0.07343	.	0.332697	0.29501	N	0.011973	T	0.22244	0.0536	L	0.35487	1.065	0.80722	D	1	B	0.27316	0.175	B	0.27076	0.076	T	0.06534	-1.0821	10	0.21540	T	0.41	-2.7906	10.3968	0.44205	0.0:0.5381:0.0:0.4619	.	351	Q13724	MOGS_HUMAN	T	351;245;245	ENSP00000233616:R351T;ENSP00000388201:R245T;ENSP00000410992:R245T	ENSP00000233616:R351T	R	-	2	0	MOGS	74543372	0.394000	0.25246	0.178000	0.23040	0.066000	0.16364	-0.108000	0.10857	-0.241000	0.09681	-0.302000	0.09304	AGA		0.532	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1		NM_006302		69	93	0	0	0	0.00361	0	69	93		
TGOLN2	10618	broad.mit.edu	37	2	85554607	85554607	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:85554607T>C	ENST00000409232.3	-	2	309	c.248A>G	c.(247-249)aAg>aGg	p.K83R	TGOLN2_ENST00000398263.2_Missense_Mutation_p.K83R|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409015.1_Missense_Mutation_p.K83R|TGOLN2_ENST00000444342.2_Missense_Mutation_p.K83R|TGOLN2_ENST00000377386.3_Missense_Mutation_p.K83R			O43493	TGON2_HUMAN	trans-golgi network protein 2	83	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CGCACCCGACTTGTTGGGGGT	0.602																																						uc010fgd.1		NaN																	0					0						c.(247-249)AAG>AGG		trans-golgi network protein 2							243.0	238.0	240.0					2																	85554607		1924	4137	6061	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554607T>C	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.248A>G	2.37:g.85554607T>C	ENSP00000386443:p.Lys83Arg					TGOLN2_uc002soz.2_Missense_Mutation_p.K83R|TGOLN2_uc002spa.2_Intron|TGOLN2_uc002spb.2_Missense_Mutation_p.K83R|TGOLN2_uc002spc.1_Missense_Mutation_p.K83R	p.K83R	NM_006464	NP_006455	O43493	TGON2_HUMAN			2	537	-			83			Extracellular (Potential).|14 X 14 AA tandem repeats.|3.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.248A>G	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	T	4.674	0.125323	0.08931	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T	0.13538	2.69;2.58;2.63;2.7;2.73	2.35	-3.55	0.04639	.	.	.	.	.	T	0.07503	0.0189	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.17667	0.005;0.011;0.023;0.005	B;B;B;B	0.16289	0.003;0.005;0.015;0.008	T	0.35748	-0.9776	9	0.34782	T	0.22	.	4.1864	0.10400	0.0:0.2308:0.342:0.4271	.	83;83;83;83	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	R	83	ENSP00000366603:K83R;ENSP00000381312:K83R;ENSP00000386443:K83R;ENSP00000387035:K83R;ENSP00000391190:K83R	ENSP00000366603:K83R	K	-	2	0	TGOLN2	85408118	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-2.021000	0.01440	-0.860000	0.04099	-0.639000	0.03973	AAG		0.602	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2		NM_006464		7	533	0	0	0	0.004482	0	7	533		
REV1	51455	broad.mit.edu	37	2	100052376	100052376	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:100052376C>G	ENST00000258428.3	-	7	1469	c.1241G>C	c.(1240-1242)aGa>aCa	p.R414T	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.R414T	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	414					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTCTGATGTCTGGGAGAATT	0.348								Direct reversal of damage																														uc002tad.2		NaN																	0				ovary(2)	2						c.(1240-1242)AGA>ACA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							104.0	103.0	103.0					2																	100052376		2203	4299	6502	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100052376C>G	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1241G>C	2.37:g.100052376C>G	ENSP00000258428:p.Arg414Thr					REV1_uc002tac.2_Missense_Mutation_p.R414T	p.R414T	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			7	1453	-			414					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.1241G>C	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960624	0.34565	.	.	ENSG00000135945	ENST00000393445;ENST00000258428;ENST00000450415	T;T;T	0.70631	-0.5;-0.5;-0.5	5.77	4.89	0.63831	.	0.305905	0.43260	D	0.000587	T	0.61763	0.2373	L	0.54323	1.7	0.32469	N	0.543085	P;P	0.43094	0.799;0.646	B;B	0.41571	0.272;0.36	T	0.65245	-0.6215	10	0.16896	T	0.51	.	7.0825	0.25239	0.0:0.7152:0.0:0.2848	.	414;414	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	T	414;414;52	ENSP00000377091:R414T;ENSP00000258428:R414T;ENSP00000414875:R52T	ENSP00000258428:R414T	R	-	2	0	REV1	99418808	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	3.268000	0.51585	1.442000	0.47568	-0.150000	0.13652	AGA		0.348	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2		NM_016316		39	119	0	0	0	0.00361	0	39	119		
NPAS2	4862	broad.mit.edu	37	2	101591943	101591943	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:101591943G>A	ENST00000335681.5	+	14	1591	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	AC016738.3_ENST00000433012.1_RNA|AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.E501K	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	436					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGATGGCAGAGGCCAGCAC	0.577																																						uc002tap.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1306-1308)GAG>AAG		neuronal PAS domain protein 2							119.0	124.0	122.0					2																	101591943		2203	4300	6503	SO:0001583	missense	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101591943G>A	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1306G>A	2.37:g.101591943G>A	ENSP00000338283:p.Glu436Lys					NPAS2_uc010yvt.1_Missense_Mutation_p.E501K|NPAS2_uc010fit.1_Missense_Mutation_p.E14K	p.E436K	NM_002518	NP_002509	Q99743	NPAS2_HUMAN			14	1592	+			436					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.1306G>A	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004201	0.74932	.	.	ENSG00000170485	ENST00000335681;ENST00000542504;ENST00000450763	T;T;T	0.36699	3.42;3.4;1.24	5.93	5.05	0.67936	.	1.123360	0.06435	N	0.724936	T	0.43033	0.1229	M	0.61703	1.905	0.47065	D	0.999303	B;B;B	0.27068	0.167;0.005;0.034	B;B;B	0.27380	0.079;0.01;0.025	T	0.26608	-1.0098	10	0.62326	D	0.03	.	13.6377	0.62230	0.0732:0.0:0.9268:0.0	.	501;436;436	F5H027;A0PJF9;Q99743	.;.;NPAS2_HUMAN	K	436;501;35	ENSP00000338283:E436K;ENSP00000438428:E501K;ENSP00000392125:E35K	ENSP00000338283:E436K	E	+	1	0	NPAS2	100958375	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	5.445000	0.66594	2.826000	0.97356	0.655000	0.94253	GAG		0.577	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3				156	253	0	0	0	0.00361	0	156	253		
CNOT11	55571	broad.mit.edu	37	2	101885518	101885518	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:101885518G>C	ENST00000289382.3	+	6	1418	c.1255G>C	c.(1255-1257)Gat>Cat	p.D419H	RNF149_ENST00000485752.1_5'Flank	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	419					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											TACAGCTGTTGATCTACCTCC	0.284																																						uc002taw.3		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1255-1257)GAT>CAT		hypothetical protein LOC55571							76.0	77.0	77.0					2																	101885518		2202	4296	6498	SO:0001583	missense	55571				cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol		g.chr2:101885518G>C	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.1255G>C	2.37:g.101885518G>C	ENSP00000289382:p.Asp419His						p.D419H	NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN			6	1337	+			419					Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	c.1255G>C	CCDS2050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.696312|4.696312	0.88830|0.88830	.|.	.|.	ENSG00000158435|ENSG00000158435	ENST00000289382|ENST00000420107	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.115091|.	0.64402|.	D|.	0.000010|.	T|.	0.76018|.	0.3929|.	M|M	0.65677|0.65677	2.01|2.01	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.81914|.	0.995|.	T|.	0.72090|.	-0.4395|.	9|.	0.48119|.	T|.	0.1|.	-25.8161|-25.8161	20.422|20.422	0.99049|0.99049	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	419|.	Q9UKZ1|.	CB029_HUMAN|.	H|S	419|98	.|.	ENSP00000289382:D419H|.	D|X	+|+	1|2	0|2	C2orf29|C2orf29	101251950|101251950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.699000|9.699000	0.98703|0.98703	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAT|TGA		0.284	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1		NM_017546		5	24	0	0	0	0.001168	0	5	24		
IMP4	92856	broad.mit.edu	37	2	131103254	131103254	+	Missense_Mutation	SNP	G	G	A	rs146322628	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:131103254G>A	ENST00000259239.3	+	5	1129	c.421G>A	c.(421-423)Gag>Aag	p.E141K	IMP4_ENST00000409935.1_Missense_Mutation_p.E141K	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	141	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					GGTCGTTCACGAGCATCGGGG	0.667													G|||	3	0.000599042	0.0008	0.0	5008	,	,		18080	0.001		0.001	False		,,,				2504	0.0					uc002tra.1		NaN																	0				central_nervous_system(2)	2						c.(421-423)GAG>AAG		IMP4, U3 small nucleolar ribonucleoprotein,		G	LYS/GLU	0,4406		0,0,2203	54.0	57.0	56.0		421	5.1	0.9	2	dbSNP_134	56	10,8590	7.7+/-29.5	0,10,4290	yes	missense	IMP4	NM_033416.1	56	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	probably-damaging	141/292	131103254	10,12996	2203	4300	6503	SO:0001583	missense	92856				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131103254G>A	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.421G>A	2.37:g.131103254G>A	ENSP00000259239:p.Glu141Lys						p.E141K	NM_033416	NP_219484	Q96G21	IMP4_HUMAN			5	438	+	Colorectal(110;0.1)		141			Brix.		Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	c.421G>A	CCDS2160.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	22.5	4.293081	0.80914	0.0	0.001163	ENSG00000136718	ENST00000259239;ENST00000409935;ENST00000409649;ENST00000428740	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.06	5.06	0.68205	Brix domain (3);Anticodon-binding (1);	0.048254	0.85682	N	0.000000	D	0.83783	0.5329	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90423	0.4418	10	0.87932	D	0	-24.6185	16.312	0.82874	0.0:0.0:1.0:0.0	.	141	Q96G21	IMP4_HUMAN	K	141;141;56;86	ENSP00000259239:E141K;ENSP00000386411:E141K;ENSP00000386716:E56K;ENSP00000389701:E86K	ENSP00000259239:E141K	E	+	1	0	IMP4	130819724	1.000000	0.71417	0.945000	0.38365	0.269000	0.26545	8.540000	0.90641	2.517000	0.84864	0.655000	0.94253	GAG		0.667	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2		NM_033416		48	36	0	0	0	0.00361	0	48	36		
AMER3	205147	broad.mit.edu	37	2	131520411	131520411	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:131520411G>A	ENST00000423981.1	+	2	876	c.766G>A	c.(766-768)Gat>Aat	p.D256N	AMER3_ENST00000321420.4_Missense_Mutation_p.D256N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	256					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GGTGTTCGCAGATGAGAGCTC	0.647																																						uc002trw.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(766-768)GAT>AAT		hypothetical protein LOC205147							58.0	65.0	62.0					2																	131520411		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520411G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.766G>A	2.37:g.131520411G>A	ENSP00000392700:p.Asp256Asn					FAM123C_uc010fmv.2_Missense_Mutation_p.D256N|FAM123C_uc010fms.1_Missense_Mutation_p.D256N|FAM123C_uc010fmt.1_Missense_Mutation_p.D256N|FAM123C_uc010fmu.1_Missense_Mutation_p.D256N	p.D256N	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	956	+	Colorectal(110;0.1)		256					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.766G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592259	0.66219	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.29397	1.57;1.57	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.57095	0.2030	M	0.74258	2.255	0.46981	D	0.999279	D	0.89917	1.0	D	0.97110	1.0	T	0.60767	-0.7198	10	0.87932	D	0	.	16.6282	0.84992	0.0:0.0:1.0:0.0	.	256	Q8N944	F123C_HUMAN	N	256	ENSP00000314914:D256N;ENSP00000392700:D256N	ENSP00000314914:D256N	D	+	1	0	FAM123C	131236881	1.000000	0.71417	0.983000	0.44433	0.013000	0.08279	8.804000	0.91921	2.597000	0.87782	0.561000	0.74099	GAT		0.647	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3		NM_152698		58	54	0	0	0	0.00361	0	58	54		
LRP1B	53353	broad.mit.edu	37	2	141625324	141625324	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:141625324G>C	ENST00000389484.3	-	27	5385	c.4414C>G	c.(4414-4416)Ccc>Gcc	p.P1472A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1472					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGCAAAGGGATGGGAAAGG	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(4414-4416)CCC>GCC		low density lipoprotein-related protein 1B							143.0	139.0	140.0					2																	141625324		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141625324G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4414C>G	2.37:g.141625324G>C	ENSP00000374135:p.Pro1472Ala	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.P654A	p.P1472A	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	27	5386	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1472			Extracellular (Potential).|LDL-receptor class B 12.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4414C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812758	0.70912	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.94758	-3.51;-3.51	5.42	5.42	0.78866	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98314	0.9441	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	D	0.99191	1.0870	10	0.66056	D	0.02	.	19.2069	0.93734	0.0:0.0:1.0:0.0	.	655;1472	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	A	1472;1410;617	ENSP00000374135:P1472A;ENSP00000413239:P617A	ENSP00000374135:P1472A	P	-	1	0	LRP1B	141341794	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.744000	0.98853	2.547000	0.85894	0.655000	0.94253	CCC		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		4	78	0	0	0	0.009096	0	4	78		
NEB	4703	broad.mit.edu	37	2	152468805	152468805	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:152468805C>G	ENST00000172853.10	-	74	11118	c.10971G>C	c.(10969-10971)ctG>ctC	p.L3657L	NEB_ENST00000603639.1_Silent_p.L3900L|NEB_ENST00000604864.1_Silent_p.L3900L|NEB_ENST00000427231.2_Silent_p.L3900L|NEB_ENST00000409198.1_Silent_p.L3657L|NEB_ENST00000397345.3_Silent_p.L3900L			P20929	NEBU_HUMAN	nebulin	3657					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCTGTCACTCAGGATTTCTC	0.473																																						uc010fnx.2		NaN																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(10969-10971)CTG>CTC		nebulin isoform 3							98.0	93.0	95.0					2																	152468805		1945	4161	6106	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152468805C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10971G>C	2.37:g.152468805C>G							p.L3657L	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	74	11162	-			3657			Nebulin 100.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.10971G>C																																																																																					0.473	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		49	6	0	0	0	0.00361	0	49	6		
HOXD13	3239	broad.mit.edu	37	2	176958267	176958267	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:176958267G>A	ENST00000392539.3	+	1	649	c.649G>A	c.(649-651)Gag>Aag	p.E217K		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	217					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CGGCTCCGGGGAGCCTCGGCA	0.617			T	NUP98	AML*																																	uc002ukf.1		NaN		Dom	yes		2	2q31-q32	3239	T	homeo box D13			L	NUP98		AML*		0				lung(1)	1						c.(649-651)GAG>AAG		homeobox D13							62.0	62.0	62.0					2																	176958267		2203	4300	6503	SO:0001583	missense	3239				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	g.chr2:176958267G>A	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"""Homeoboxes / ANTP class : HOXL subclass"""	5136	protein-coding gene	gene with protein product		142989	"""homeo box D13"""	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.649G>A	2.37:g.176958267G>A	ENSP00000376322:p.Glu217Lys						p.E217K	NM_000523	NP_000514	P35453	HXD13_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	1	736	+			217						Missense_Mutation	SNP	ENST00000392539.3	37	c.649G>A	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	G	36	5.703673	0.96812	.	.	ENSG00000128714	ENST00000392539	D	0.95821	-3.82	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000012	D	0.97207	0.9087	M	0.87269	2.87	0.54753	D	0.999988	D	0.60160	0.987	P	0.55455	0.776	D	0.97964	1.0339	10	0.72032	D	0.01	.	16.1806	0.81895	0.0:0.0:1.0:0.0	.	217	P35453	HXD13_HUMAN	K	217	ENSP00000376322:E217K	ENSP00000376322:E217K	E	+	1	0	HOXD13	176666513	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.219000	0.95173	2.335000	0.79485	0.563000	0.77884	GAG		0.617	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1				67	12	0	0	0	0.00361	0	67	12		
COL5A2	1290	broad.mit.edu	37	2	189931201	189931201	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:189931201G>A	ENST00000374866.3	-	23	1752	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	493					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGGGCCTATCGGACCCTGAAT	0.478																																						uc002uqk.2		NaN																	0				ovary(2)	2						c.(1477-1479)CCG>CTG		alpha 2 type V collagen preproprotein							122.0	127.0	125.0					2																	189931201		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189931201G>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1478C>T	2.37:g.189931201G>A	ENSP00000364000:p.Pro493Leu					COL5A2_uc010frx.2_Intron	p.P493L	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		23	1753	-			493					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.1478C>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771770	0.69992	.	.	ENSG00000204262	ENST00000374866	D	0.96885	-4.16	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000056	D	0.92619	0.7655	N	0.25957	0.775	0.48087	D	0.999582	B	0.29162	0.235	B	0.24394	0.053	D	0.89694	0.3900	9	.	.	.	.	19.7984	0.96495	0.0:0.0:1.0:0.0	.	493	P05997	CO5A2_HUMAN	L	493	ENSP00000364000:P493L	.	P	-	2	0	COL5A2	189639446	1.000000	0.71417	0.995000	0.50966	0.838000	0.47535	3.443000	0.52907	2.753000	0.94483	0.467000	0.42956	CCG		0.478	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1		NM_000393		51	136	0	0	0	0.00361	0	51	136		
AOX1	316	broad.mit.edu	37	2	201469496	201469496	+	Silent	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:201469496G>T	ENST00000374700.2	+	9	988	c.747G>T	c.(745-747)ctG>ctT	p.L249L		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	249	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCGTGACCCTGAAGGAACTGC	0.448																																						uc002uvx.2		NaN																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(745-747)CTG>CTT		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						130.0	118.0	122.0					2																	201469496		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201469496G>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.747G>T	2.37:g.201469496G>T							p.L249L	NM_001159	NP_001150	Q06278	ADO_HUMAN			9	848	+			249			FAD-binding PCMH-type.		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.747G>T	CCDS33360.1																																																																																				0.448	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1		NM_001159		85	41	1	0	3.27315e-48	0.00361	3.59501e-48	85	41		
ICOS	29851	broad.mit.edu	37	2	204820542	204820542	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:204820542A>T	ENST00000316386.6	+	2	309	c.242A>T	c.(241-243)aAa>aTa	p.K81I	ICOS_ENST00000435193.1_Missense_Mutation_p.K81I	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	81	Ig-like V-type.				immune response (GO:0006955)|single organismal cell-cell adhesion (GO:0016337)|T cell costimulation (GO:0031295)|T cell tolerance induction (GO:0002517)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6						AAGAGTCTGAAATTCTGCCAT	0.388																																						uc002vam.2		NaN																	0					0						c.(241-243)AAA>ATA		inducible T-cell co-stimulator precursor							154.0	146.0	149.0					2																	204820542		2203	4300	6503	SO:0001583	missense	29851				immune response|T cell costimulation	extracellular region		g.chr2:204820542A>T	AB023135	CCDS2363.1	2q33	2014-09-17			ENSG00000163600	ENSG00000163600		"""CD molecules"""	5351	protein-coding gene	gene with protein product	"""activation-inducible lymphocyte immunomediatory molecule"""	604558				9930702, 10617205	Standard	NM_012092		Approved	AILIM, CD278	uc002vam.3	Q9Y6W8	OTTHUMG00000132880	ENST00000316386.6:c.242A>T	2.37:g.204820542A>T	ENSP00000319476:p.Lys81Ile					ICOS_uc010zip.1_Missense_Mutation_p.K81I|ICOS_uc010fua.2_Missense_Mutation_p.K81I	p.K81I	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN			2	309	+			81			Ig-like V-type.|Extracellular (Potential).		Q8N6W8	Missense_Mutation	SNP	ENST00000316386.6	37	c.242A>T	CCDS2363.1	.	.	.	.	.	.	.	.	.	.	A	5.203	0.222949	0.09863	.	.	ENSG00000163600	ENST00000316386;ENST00000435193	T;T	0.33216	1.42;1.42	5.45	-5.33	0.02713	Immunoglobulin-like fold (1);	1.975580	0.02001	N	0.046300	T	0.18800	0.0451	L	0.29908	0.895	0.09310	N	1	B;B;B	0.28636	0.218;0.218;0.218	B;B;B	0.21546	0.035;0.035;0.035	T	0.17137	-1.0379	10	0.37606	T	0.19	-1.26	4.9964	0.14242	0.2355:0.0:0.1721:0.5924	.	81;81;81	Q53QY6;Q9Y6W8-2;Q9Y6W8	.;.;ICOS_HUMAN	I	81	ENSP00000319476:K81I;ENSP00000415951:K81I	ENSP00000319476:K81I	K	+	2	0	ICOS	204528787	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.591000	0.05753	-0.479000	0.06813	-0.256000	0.11100	AAA		0.388	ICOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256369.1		NM_012092		29	63	0	0	0	0.010818	0	29	63		
ICOS	29851	broad.mit.edu	37	2	204820544	204820544	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:204820544T>C	ENST00000316386.6	+	2	311	c.244T>C	c.(244-246)Ttc>Ctc	p.F82L	ICOS_ENST00000435193.1_Missense_Mutation_p.F82L	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	82	Ig-like V-type.				immune response (GO:0006955)|single organismal cell-cell adhesion (GO:0016337)|T cell costimulation (GO:0031295)|T cell tolerance induction (GO:0002517)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6						GAGTCTGAAATTCTGCCATTC	0.388																																						uc002vam.2		NaN																	0					0						c.(244-246)TTC>CTC		inducible T-cell co-stimulator precursor							154.0	146.0	149.0					2																	204820544		2203	4300	6503	SO:0001583	missense	29851				immune response|T cell costimulation	extracellular region		g.chr2:204820544T>C	AB023135	CCDS2363.1	2q33	2014-09-17			ENSG00000163600	ENSG00000163600		"""CD molecules"""	5351	protein-coding gene	gene with protein product	"""activation-inducible lymphocyte immunomediatory molecule"""	604558				9930702, 10617205	Standard	NM_012092		Approved	AILIM, CD278	uc002vam.3	Q9Y6W8	OTTHUMG00000132880	ENST00000316386.6:c.244T>C	2.37:g.204820544T>C	ENSP00000319476:p.Phe82Leu					ICOS_uc010zip.1_Missense_Mutation_p.F82L|ICOS_uc010fua.2_Missense_Mutation_p.F82L	p.F82L	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN			2	311	+			82			Ig-like V-type.|Extracellular (Potential).		Q8N6W8	Missense_Mutation	SNP	ENST00000316386.6	37	c.244T>C	CCDS2363.1	.	.	.	.	.	.	.	.	.	.	T	1.905	-0.452218	0.04540	.	.	ENSG00000163600	ENST00000316386;ENST00000435193	T;T	0.28255	1.62;1.62	5.45	0.268	0.15626	Immunoglobulin-like fold (1);	0.702292	0.14085	N	0.342435	T	0.10723	0.0262	N	0.04043	-0.29	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.34254	-0.9836	10	0.12430	T	0.62	0.27	5.069	0.14596	0.0:0.1625:0.3199:0.5175	.	82;82;82	Q53QY6;Q9Y6W8-2;Q9Y6W8	.;.;ICOS_HUMAN	L	82	ENSP00000319476:F82L;ENSP00000415951:F82L	ENSP00000319476:F82L	F	+	1	0	ICOS	204528789	0.000000	0.05858	0.011000	0.14972	0.001000	0.01503	-0.036000	0.12185	-0.106000	0.12110	-0.258000	0.10820	TTC		0.388	ICOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256369.1		NM_012092		28	61	0	0	0	0.010818	0	28	61		
BARD1	580	broad.mit.edu	37	2	215645993	215645993	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:215645993G>C	ENST00000260947.4	-	4	739	c.605C>G	c.(604-606)tCt>tGt	p.S202C	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.S58C	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	202					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTTTTCCAGATCTTGCAGA	0.368									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002veu.2		NaN																	0				lung(2)	2						c.(604-606)TCT>TGT		BRCA1 associated RING domain 1							61.0	64.0	63.0					2																	215645993		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645993G>C		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.605C>G	2.37:g.215645993G>C	ENSP00000260947:p.Ser202Cys					BARD1_uc010zjm.1_Missense_Mutation_p.S58C	p.S202C	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	740	-		Renal(323;0.0243)	202					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.605C>G	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	5.342	0.248459	0.10130	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.73897	-0.79;-0.15	5.75	4.85	0.62838	.	0.417706	0.25830	N	0.028032	T	0.65595	0.2706	L	0.41824	1.3	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.11329	0.006;0.004	T	0.58618	-0.7605	10	0.49607	T	0.09	-7.3172	11.4489	0.50140	0.0:0.128:0.7232:0.1488	.	58;202	E7EUI3;Q99728	.;BARD1_HUMAN	C	202;58	ENSP00000260947:S202C;ENSP00000406752:S58C	ENSP00000260947:S202C	S	-	2	0	BARD1	215354238	0.568000	0.26635	0.039000	0.18376	0.007000	0.05969	1.874000	0.39568	1.532000	0.49169	0.650000	0.86243	TCT		0.368	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1		NM_000465		7	15	0	0	0	0.001984	0	7	15		
OBSL1	23363	broad.mit.edu	37	2	220432452	220432452	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:220432452G>A	ENST00000404537.1	-	3	1578	c.1522C>T	c.(1522-1524)Ctc>Ttc	p.L508F	OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000603926.1_Missense_Mutation_p.L508F|OBSL1_ENST00000373873.4_Missense_Mutation_p.L508F|OBSL1_ENST00000289656.3_Missense_Mutation_p.L95F|OBSL1_ENST00000265318.4_Missense_Mutation_p.L508F|OBSL1_ENST00000373876.1_Missense_Mutation_p.L508F	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	508					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TTTACTCTGAGAAGCGTAGTG	0.597																																						uc010fwk.2		NaN																	0					0						c.(1522-1524)CTC>TTC		obscurin-like 1							54.0	60.0	58.0					2																	220432452		2123	4222	6345	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220432452G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1522C>T	2.37:g.220432452G>A	ENSP00000385636:p.Leu508Phe					OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.L508F|OBSL1_uc002vmj.2_Missense_Mutation_p.L95F	p.L508F	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	3	1579	-		Renal(207;0.0376)	508					A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.1522C>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299373	0.60195	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	4.55	4.55	0.56014	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92459	0.7606	L	0.49571	1.57	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	D	0.93203	0.6593	9	0.72032	D	0.01	.	15.631	0.76908	0.0:0.0:1.0:0.0	.	508;95;508	O75147;A8MSZ8;O75147-2	OBSL1_HUMAN;.;.	F	508;508;508;508;95	ENSP00000265318:L508F;ENSP00000385636:L508F;ENSP00000362983:L508F;ENSP00000362980:L508F;ENSP00000289656:L95F	ENSP00000265318:L508F	L	-	1	0	OBSL1	220140696	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	5.960000	0.70348	2.352000	0.79861	0.484000	0.47621	CTC		0.597	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1				22	66	0	0	0	0.005443	0	22	66		
MFF	56947	broad.mit.edu	37	2	228205033	228205033	+	Missense_Mutation	SNP	G	G	C	rs531923234		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:228205033G>C	ENST00000353339.3	+	6	896	c.455G>C	c.(454-456)aGa>aCa	p.R152T	MFF_ENST00000337110.7_Missense_Mutation_p.R126T|MFF_ENST00000409616.1_Missense_Mutation_p.R126T|MFF_ENST00000409565.1_Missense_Mutation_p.R126T|MFF_ENST00000392059.1_Missense_Mutation_p.R152T|MFF_ENST00000354503.6_Missense_Mutation_p.R126T|MFF_ENST00000304593.9_Missense_Mutation_p.R126T|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Missense_Mutation_p.R126T|MFF_ENST00000524634.1_5'UTR	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	152					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AGACTAAAAAGAGAGCGGTCT	0.413																																						uc002vos.2		NaN																	0				large_intestine(1)	1						c.(454-456)AGA>ACA		mitochondrial fission factor							87.0	81.0	83.0					2																	228205033		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228205033G>C	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.455G>C	2.37:g.228205033G>C	ENSP00000302037:p.Arg152Thr					MFF_uc002vot.2_Missense_Mutation_p.R126T|MFF_uc002vou.2_Missense_Mutation_p.R152T|MFF_uc002vov.2_Missense_Mutation_p.R126T|MFF_uc002vow.2_Missense_Mutation_p.R126T|MFF_uc002vox.2_Missense_Mutation_p.R126T|MFF_uc002voy.2_Missense_Mutation_p.R152T|MFF_uc002voz.2_Missense_Mutation_p.R126T	p.R152T	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN			6	873	+			152			Cytoplasmic (Potential).		Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.455G>C	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215318	0.79352	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000349901;ENST00000392059;ENST00000456345	T;T	0.38722	1.12;1.12	5.95	5.95	0.96441	.	0.042029	0.85682	D	0.000000	T	0.56702	0.2003	L	0.46157	1.445	0.46586	D	0.999116	D;P;D;P;D;D	0.89917	0.976;0.633;0.989;0.505;0.997;1.0	P;B;P;B;D;D	0.77004	0.686;0.297;0.714;0.336;0.945;0.989	T	0.53049	-0.8493	10	0.48119	T	0.1	-4.9302	13.5695	0.61838	0.0706:0.0:0.9294:0.0	.	126;126;126;126;126;152	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	T	126;152;126;126;126;126;126;126;152;9	ENSP00000302037:R152T;ENSP00000375912:R152T	ENSP00000304898:R126T	R	+	2	0	MFF	227913277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.384000	0.73177	2.824000	0.97209	0.655000	0.94253	AGA		0.413	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2		NM_020194		28	18	0	0	0	0.00874	0	28	18		
USP40	55230	broad.mit.edu	37	2	234386116	234386116	+	Silent	SNP	G	G	A	rs373474102		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:234386116G>A	ENST00000427112.2	-	31	3665	c.3630C>T	c.(3628-3630)atC>atT	p.I1210I	USP40_ENST00000450966.1_Silent_p.I1222I|USP40_ENST00000251722.6_Silent_p.I1210I			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1210					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CACTGGAGAGGATGTAGCTGC	0.602																																						uc010zmr.1		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(3664-3666)ATC>ATT		ubiquitin thioesterase 40		G		0,4098		0,0,2049	56.0	63.0	61.0		3666	-8.7	0.0	2		61	1,8403		0,1,4201	no	coding-synonymous	USP40	NM_018218.2		0,1,6250	AA,AG,GG		0.0119,0.0,0.0080		1222/1248	234386116	1,12501	2049	4202	6251	SO:0001819	synonymous_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234386116G>A	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3630C>T	2.37:g.234386116G>A						USP40_uc002vul.2_Silent_p.I206I	p.I1222I	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	31	3666	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	1210					Q6NX38|Q70EL0	Silent	SNP	ENST00000427112.2	37	c.3666C>T	CCDS46547.1																																																																																				0.602	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1		XM_114294		15	45	0	0	0	0.006122	0	15	45		
IDH3B	3420	broad.mit.edu	37	20	2639436	2639436	+	Missense_Mutation	SNP	G	G	C	rs140692628		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:2639436G>C	ENST00000380843.4	-	12	1149	c.1119C>G	c.(1117-1119)atC>atG	p.I373M	SNORD57_ENST00000448188.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000380851.5_Intron|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	373					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						TGACAGACTTGATGAAGTCGG	0.552																																						uc002wgp.2		NaN																	0					0						c.(1117-1119)ATC>ATG		isocitrate dehydrogenase 3, beta subunit isoform	NADH(DB00157)						168.0	146.0	153.0					20																	2639436		2203	4300	6503	SO:0001583	missense	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2639436G>C		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.1119C>G	20.37:g.2639436G>C	ENSP00000370223:p.Ile373Met					IDH3B_uc002wgq.2_Intron|IDH3B_uc002wgr.2_Missense_Mutation_p.I221M	p.I373M	NM_006899	NP_008830	O43837	IDH3B_HUMAN			12	1128	-			373					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	ENST00000380843.4	37	c.1119C>G	CCDS13032.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802591	0.31869	.	.	ENSG00000101365	ENST00000380843;ENST00000435594	T	0.70045	-0.45	5.69	4.75	0.60458	Isopropylmalate dehydrogenase-like domain (2);	0.246767	0.38720	N	0.001584	T	0.57154	0.2034	L	0.35542	1.07	0.38197	D	0.940077	B;B	0.19935	0.008;0.04	B;B	0.24701	0.026;0.055	T	0.59658	-0.7413	10	0.62326	D	0.03	-18.0707	12.3621	0.55209	0.0814:0.0:0.9186:0.0	.	221;373	O43837-3;O43837	.;IDH3B_HUMAN	M	373;221	ENSP00000370223:I373M	ENSP00000370223:I373M	I	-	3	3	IDH3B	2587436	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	2.935000	0.48963	1.417000	0.47077	-0.225000	0.12378	ATC		0.552	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1				31	45	0	0	0	0.00874	0	31	45		
IDH3B	3420	broad.mit.edu	37	20	2640753	2640753	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:2640753G>C	ENST00000380843.4	-	9	868	c.838C>G	c.(838-840)Ctg>Gtg	p.L280V	IDH3B_ENST00000380851.5_Missense_Mutation_p.L280V|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	280					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						CCAGCAGCCAGATTGTCAATA	0.517																																						uc002wgp.2		NaN																	0					0						c.(838-840)CTG>GTG		isocitrate dehydrogenase 3, beta subunit isoform	NADH(DB00157)						126.0	118.0	121.0					20																	2640753		2203	4300	6503	SO:0001583	missense	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2640753G>C		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.838C>G	20.37:g.2640753G>C	ENSP00000370223:p.Leu280Val					IDH3B_uc002wgq.2_Missense_Mutation_p.L280V|IDH3B_uc002wgr.2_Missense_Mutation_p.L128V	p.L280V	NM_006899	NP_008830	O43837	IDH3B_HUMAN			9	847	-			280					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	ENST00000380843.4	37	c.838C>G	CCDS13032.1	.	.	.	.	.	.	.	.	.	.	G	9.292	1.050802	0.19827	.	.	ENSG00000101365	ENST00000380851;ENST00000380843;ENST00000435594	T;T	0.56611	0.45;0.45	5.03	3.09	0.35607	Isopropylmalate dehydrogenase-like domain (2);Isocitrate/isopropylmalate dehydrogenase, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.48241	0.1489	L	0.55990	1.75	0.80722	D	1	B;P;P	0.37083	0.286;0.526;0.581	B;B;P	0.45946	0.175;0.365;0.498	T	0.45101	-0.9284	10	0.02654	T	1	-14.5096	9.3844	0.38333	0.173:0.0:0.827:0.0	.	128;280;280	O43837-3;O43837-2;O43837	.;.;IDH3B_HUMAN	V	280;280;128	ENSP00000370232:L280V;ENSP00000370223:L280V	ENSP00000370223:L280V	L	-	1	2	IDH3B	2588753	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.330000	0.59266	0.719000	0.32188	0.655000	0.94253	CTG		0.517	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1				38	55	0	0	0	0.009718	0	38	55		
SEC23B	10483	broad.mit.edu	37	20	18535017	18535017	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:18535017G>A	ENST00000336714.3	+	18	2563	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K	SEC23B_ENST00000262544.2_Missense_Mutation_p.E711K|SEC23B_ENST00000377475.3_Missense_Mutation_p.E711K|SEC23B_ENST00000377465.1_Missense_Mutation_p.E711K	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)	711					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						CATCAACACGGAGCATGGAGG	0.458																																						uc002wqz.1		NaN																	0				ovary(1)	1						c.(2131-2133)GAG>AAG		Sec23 homolog B							149.0	130.0	137.0					20																	18535017		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.chr20:18535017G>A	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.2131G>A	20.37:g.18535017G>A	ENSP00000338844:p.Glu711Lys					SEC23B_uc002wra.1_Missense_Mutation_p.E711K|SEC23B_uc002wrb.1_Missense_Mutation_p.E711K|SEC23B_uc010zsb.1_Missense_Mutation_p.E693K|SEC23B_uc002wrc.1_Missense_Mutation_p.E711K	p.E711K	NM_006363	NP_006354	Q15437	SC23B_HUMAN			18	2574	+			711					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.2131G>A	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631520	0.87660	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	4.69	4.69	0.59074	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.81942	2.565	0.80722	D	1	P;B	0.41848	0.763;0.11	P;B	0.46208	0.507;0.215	T	0.71859	-0.4465	10	0.87932	D	0	-25.0577	17.1327	0.86730	0.0:0.0:1.0:0.0	.	693;711	B4DJW8;Q15437	.;SC23B_HUMAN	K	711;711;711;711;190	ENSP00000338844:E711K;ENSP00000262544:E711K;ENSP00000366695:E711K;ENSP00000366685:E711K;ENSP00000409882:E190K	ENSP00000262544:E711K	E	+	1	0	SEC23B	18483017	1.000000	0.71417	0.995000	0.50966	0.480000	0.33159	9.601000	0.98297	2.588000	0.87417	0.655000	0.94253	GAG		0.458	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5				78	63	0	0	0	0.00361	0	78	63		
CFAP61	26074	broad.mit.edu	37	20	20177385	20177385	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:20177385T>G	ENST00000245957.5	+	16	1838	c.1762T>G	c.(1762-1764)Tac>Gac	p.Y588D	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		588										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATCCTGTCTCTACTACCGTGT	0.473																																						uc002wru.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(1762-1764)TAC>GAC		hypothetical protein LOC26074							103.0	95.0	97.0					20																	20177385		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20177385T>G																												ENST00000245957.5:c.1762T>G	20.37:g.20177385T>G	ENSP00000245957:p.Tyr588Asp					C20orf26_uc010zse.1_Missense_Mutation_p.Y568D	p.Y588D	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	16	1838	+			588					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1762T>G	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489803	0.84962	.	.	ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	T	0.61980	0.06	5.68	5.68	0.88126	.	0.150900	0.45606	D	0.000345	T	0.78622	0.4312	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.81156	-0.1061	10	0.87932	D	0	.	15.9129	0.79485	0.0:0.0:0.0:1.0	.	568;588	F8W6K4;Q8NHU2	.;CT026_HUMAN	D	528;156;568;588	ENSP00000245957:Y588D	ENSP00000245957:Y588D	Y	+	1	0	C20orf26	20125385	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.793000	0.85851	2.152000	0.67230	0.533000	0.62120	TAC		0.473	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3				18	56	0	0	0	0.010504	0	18	56		
CFAP61	26074	broad.mit.edu	37	20	20257987	20257987	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:20257987G>C	ENST00000245957.5	+	22	2757	c.2681G>C	c.(2680-2682)gGa>gCa	p.G894A	C20orf26_ENST00000377309.2_Missense_Mutation_p.G250A	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		894										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GGAGCCGCCGGAGTCACTATG	0.652																																						uc002wru.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(2680-2682)GGA>GCA		hypothetical protein LOC26074							87.0	80.0	83.0					20																	20257987		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20257987G>C																												ENST00000245957.5:c.2681G>C	20.37:g.20257987G>C	ENSP00000245957:p.Gly894Ala					C20orf26_uc010zse.1_Missense_Mutation_p.G874A|C20orf26_uc002wrw.2_RNA	p.G894A	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	22	2757	+			894					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2681G>C	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307249	0.60305	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389655;ENST00000245957	T;T	0.22336	1.96;1.96	5.03	3.97	0.46021	.	0.434072	0.24269	N	0.040010	T	0.41351	0.1155	M	0.74647	2.275	0.21290	N	0.999738	D;P	0.61697	0.99;0.728	P;B	0.61275	0.886;0.346	T	0.18147	-1.0346	10	0.87932	D	0	.	11.9926	0.53184	0.1189:0.0:0.8811:0.0	.	860;894	F8W6K4;Q8NHU2	.;CT026_HUMAN	A	834;250;860;894	ENSP00000366524:G250A;ENSP00000245957:G894A	ENSP00000245957:G894A	G	+	2	0	C20orf26	20205987	0.058000	0.20735	0.019000	0.16419	0.008000	0.06430	1.552000	0.36244	2.344000	0.79699	0.460000	0.39030	GGA		0.652	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3				28	58	0	0	0	0.007291	0	28	58		
ENTPD6	955	broad.mit.edu	37	20	25203528	25203528	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:25203528G>C	ENST00000376652.4	+	12	1263	c.1100G>C	c.(1099-1101)aGa>aCa	p.R367T	ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000360031.2_Missense_Mutation_p.R366T|ENTPD6_ENST00000433259.2_Missense_Mutation_p.R333T|ENTPD6_ENST00000354989.5_Missense_Mutation_p.R350T			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	367					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CTTCAAAACAGAGTGCACAGG	0.582																																						uc002wuj.2		NaN																	0					0						c.(1099-1101)AGA>ACA		ectonucleoside triphosphate diphosphohydrolase 6							180.0	149.0	160.0					20																	25203528		2203	4300	6503	SO:0001583	missense	955					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25203528G>C	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1100G>C	20.37:g.25203528G>C	ENSP00000365840:p.Arg367Thr					ENTPD6_uc010zsz.1_Missense_Mutation_p.R149T|ENTPD6_uc002wum.2_Missense_Mutation_p.R350T|ENTPD6_uc010zta.1_Missense_Mutation_p.R367T|ENTPD6_uc002wun.2_Missense_Mutation_p.R333T|ENTPD6_uc002wuk.2_Missense_Mutation_p.R366T|ENTPD6_uc002wul.2_Missense_Mutation_p.R366T|ENTPD6_uc010ztb.1_Missense_Mutation_p.R339T|ENTPD6_uc010ztc.1_Missense_Mutation_p.R339T|ENTPD6_uc002wuo.2_Missense_Mutation_p.R119T|ENTPD6_uc010ztd.1_Missense_Mutation_p.R115T|ENTPD6_uc010gdk.1_RNA|ENTPD6_uc010gdl.1_RNA	p.R367T	NM_001247	NP_001238	O75354	ENTP6_HUMAN			12	1280	+			367			Lumenal (Potential).		A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.1100G>C	CCDS13170.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	9.198|9.198|9.198	1.027789|1.027789|1.027789	0.19512|0.19512|0.19512	.|.|.	.|.|.	ENSG00000197586|ENSG00000197586|ENSG00000197586	ENST00000433417;ENST00000447877|ENST00000376666|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000433259	.|.|T;T;T;T	.|.|0.17213	.|.|2.84;2.84;2.84;2.29	5.67|5.67|5.67	-0.56|-0.56|-0.56	0.11789|0.11789|0.11789	.|.|.	.|.|0.714488	.|.|0.14902	.|.|N	.|.|0.291738	T|T|T	0.10551|0.10551|0.10551	0.0258|0.0258|0.0258	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|.|B;P;B;B;B;B;P;P	.|.|0.36183	.|.|0.003;0.542;0.124;0.409;0.016;0.034;0.525;0.525	.|.|B;B;B;B;B;B;B;B	.|.|0.41135	.|.|0.009;0.348;0.247;0.348;0.015;0.044;0.245;0.245	T|T|T	0.36261|0.36261|0.36261	-0.9755|-0.9755|-0.9755	5|5|10	.|.|0.21540	.|.|T	.|.|0.41	-2.7794|-2.7794|-2.7794	9.8794|9.8794|9.8794	0.41225|0.41225|0.41225	0.6397:0.0:0.3603:0.0|0.6397:0.0:0.3603:0.0|0.6397:0.0:0.3603:0.0	.|.|.	.|.|115;349;367;333;350;366;366;367	.|.|B4DHS2;B4DDM7;B4DNK6;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.|.|.;.;.;.;.;.;.;ENTP6_HUMAN	Q|H|T	288;226|190|350;366;287;263;367;333	.|.|ENSP00000347084:R350T;ENSP00000353131:R366T;ENSP00000365840:R367T;ENSP00000401895:R333T	.|.|ENSP00000347084:R350T	E|Q|R	+|+|+	1|3|2	0|2|0	ENTPD6|ENTPD6|ENTPD6	25151528|25151528|25151528	0.989000|0.989000|0.989000	0.36119|0.36119|0.36119	0.001000|0.001000|0.001000	0.08648|0.08648|0.08648	0.217000|0.217000|0.217000	0.24651|0.24651|0.24651	2.063000|2.063000|2.063000	0.41423|0.41423|0.41423	-0.383000|-0.383000|-0.383000	0.07858|0.07858|0.07858	-0.379000|-0.379000|-0.379000	0.06801|0.06801|0.06801	GAG|CAG|AGA		0.582	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2				116	65	0	0	0	0.00361	0	116	65		
NINL	22981	broad.mit.edu	37	20	25459797	25459797	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:25459797C>T	ENST00000278886.6	-	16	2036	c.1963G>A	c.(1963-1965)Gag>Aag	p.E655K	NINL_ENST00000422516.1_Missense_Mutation_p.E655K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	655					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTCTCCTTCTCAAAGTTCCTT	0.537																																						uc002wux.1		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1963-1965)GAG>AAG		ninein-like							88.0	85.0	86.0					20																	25459797		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25459797C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1963G>A	20.37:g.25459797C>T	ENSP00000278886:p.Glu655Lys					NINL_uc010gdn.1_Missense_Mutation_p.E655K|NINL_uc010gdo.1_Missense_Mutation_p.E438K	p.E655K	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			16	2037	-			655			Potential.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.1963G>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699075	0.68501	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.38887	1.25;1.11	4.91	4.91	0.64330	.	0.205058	0.40144	N	0.001180	T	0.54240	0.1846	M	0.65975	2.015	0.36966	D	0.893585	P;D	0.60160	0.873;0.987	B;P	0.53146	0.385;0.719	T	0.59979	-0.7352	10	0.33940	T	0.23	-20.9788	17.0279	0.86453	0.0:1.0:0.0:0.0	.	655;655	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	K	655	ENSP00000278886:E655K;ENSP00000410431:E655K	ENSP00000278886:E655K	E	-	1	0	NINL	25407797	1.000000	0.71417	0.994000	0.49952	0.742000	0.42306	2.412000	0.44609	2.543000	0.85770	0.655000	0.94253	GAG		0.537	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3		NM_025176		19	71	0	0	0	0.00333	0	19	71		
CBFA2T2	9139	broad.mit.edu	37	20	32210977	32210977	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:32210977G>C	ENST00000346541.3	+	6	1131	c.594G>C	c.(592-594)caG>caC	p.Q198H	CBFA2T2_ENST00000397800.1_Missense_Mutation_p.Q169H|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.Q169H|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.Q198H|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.Q169H|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.Q189H|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.Q169H|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.Q208H	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	198	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CGGCCAAGCAGACCCCATCCC	0.582																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	uc002wzg.1		NaN																	0				pancreas(1)|skin(1)	2						c.(592-594)CAG>CAC		core-binding factor, runt domain, alpha subunit							92.0	78.0	83.0					20																	32210977		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32210977G>C	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.594G>C	20.37:g.32210977G>C	ENSP00000262653:p.Gln198His					CBFA2T2_uc010zug.1_5'UTR|CBFA2T2_uc002wze.1_Missense_Mutation_p.Q189H|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Missense_Mutation_p.Q169H|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA	p.Q198H	NM_005093	NP_005084	O43439	MTG8R_HUMAN			6	1131	+			198			TAFH.		B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.594G>C	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241253	0.79912	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53	6.02	2.97	0.34412	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	L	0.47716	1.5	0.80722	D	1	D;D	0.63880	0.993;0.992	D;D	0.79784	0.993;0.988	T	0.61456	-0.7059	10	0.87932	D	0	0.9854	9.8022	0.40770	0.296:0.0:0.704:0.0	.	198;189	O43439;F8W6D7	MTG8R_HUMAN;.	H	198;189;169;198;169;169;208	ENSP00000364428:Q198H;ENSP00000345810:Q189H;ENSP00000341865:Q169H;ENSP00000262653:Q198H;ENSP00000380902:Q169H;ENSP00000380900:Q169H;ENSP00000352622:Q208H	ENSP00000345810:Q189H	Q	+	3	2	CBFA2T2	31674638	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.453000	0.44970	0.381000	0.24851	0.650000	0.86243	CAG		0.582	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2		NM_001032999		32	129	0	0	0	0.004289	0	32	129		
NCOA6	23054	broad.mit.edu	37	20	33364229	33364229	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:33364229C>T	ENST00000374796.2	-	5	2828	c.258G>A	c.(256-258)caG>caA	p.Q86Q	NCOA6_ENST00000359003.2_Silent_p.Q86Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	86	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GCTCCACCTTCTGTACTTTTA	0.453																																						uc002xav.2		NaN																	0				ovary(3)|breast(3)|central_nervous_system(1)	7						c.(256-258)CAG>CAA		nuclear receptor coactivator 6							89.0	84.0	86.0					20																	33364229		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33364229C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.258G>A	20.37:g.33364229C>T						NCOA6_uc002xaw.2_Silent_p.Q86Q|NCOA6_uc010gew.1_Silent_p.Q86Q	p.Q86Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			5	2829	-			86			TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.258G>A	CCDS13241.1																																																																																				0.453	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		NM_014071		19	51	0	0	0	0.00278	0	19	51		
UQCC1	55245	broad.mit.edu	37	20	33891825	33891825	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:33891825C>T	ENST00000374385.5	-	10	990	c.813G>A	c.(811-813)ggG>ggA	p.G271G	UQCC1_ENST00000349714.5_Silent_p.G244G|UQCC1_ENST00000397556.3_Silent_p.G172G|UQCC1_ENST00000374377.5_Silent_p.G159G|UQCC1_ENST00000540457.1_Silent_p.G116G|UQCC1_ENST00000407996.2_Silent_p.G134G|UQCC1_ENST00000374380.2_Silent_p.G203G|UQCC1_ENST00000359226.2_Silent_p.G191G|UQCC1_ENST00000374384.2_Silent_p.G245G	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	271						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											AGCTCACCTCCCCTGTCAGAA	0.592											OREG0025888	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xcd.2		NaN																	0				breast(1)	1						c.(811-813)GGG>GGA		basic FGF-repressed Zic binding protein isoform							110.0	100.0	103.0					20																	33891825		2203	4300	6503	SO:0001819	synonymous_variant	55245					cytoplasmic membrane-bounded vesicle		g.chr20:33891825C>T	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.813G>A	20.37:g.33891825C>T			OREG0025888	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	843	UQCC_uc010zuy.1_Silent_p.G172G|UQCC_uc010zuz.1_Silent_p.G116G|UQCC_uc010zva.1_Silent_p.G134G|UQCC_uc002xce.2_Silent_p.G244G|UQCC_uc002xcg.2_Silent_p.G137G|UQCC_uc010gfb.2_Silent_p.G245G|UQCC_uc010zvb.1_Silent_p.G203G|UQCC_uc002xcf.2_Silent_p.G159G|UQCC_uc002xch.2_RNA|UQCC_uc002xcc.2_Silent_p.G84G	p.G271G	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		10	880	-			271					B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Silent	SNP	ENST00000374385.5	37	c.813G>A	CCDS13252.1																																																																																				0.592	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1		NM_018244		71	53	0	0	0	0.00361	0	71	53		
CHD6	84181	broad.mit.edu	37	20	40127937	40127937	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:40127937C>T	ENST00000373233.3	-	6	1090	c.913G>A	c.(913-915)Gag>Aag	p.E305K	CHD6_ENST00000373222.3_Missense_Mutation_p.E340K|CHD6_ENST00000309279.7_Missense_Mutation_p.E305K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	305	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Required for DNA-dependent ATPase activity.				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)				CCACCAACCTCCTGGACAGTC	0.403																																						uc002xka.1		NaN																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(913-915)GAG>AAG		chromodomain helicase DNA binding protein 6							81.0	68.0	72.0					20																	40127937		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.chr20:40127937C>T	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.913G>A	20.37:g.40127937C>T	ENSP00000362330:p.Glu305Lys					CHD6_uc002xkd.2_Missense_Mutation_p.E283K|CHD6_uc002xkc.2_Missense_Mutation_p.E340K	p.E305K	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			6	1091	-		Myeloproliferative disorder(115;0.00425)	305			Chromo 1.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.913G>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612326	0.28712	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222	T;T;T	0.54071	0.59;0.59;0.59	4.44	4.44	0.53790	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (1);	0.000000	0.64402	D	0.000016	T	0.32164	0.0820	N	0.01874	-0.695	0.46499	D	0.999076	D;B	0.65815	0.995;0.218	P;B	0.61722	0.893;0.199	T	0.51188	-0.8737	10	0.02654	T	1	-23.7071	5.5072	0.16860	0.0:0.7557:0.0:0.2443	.	340;305	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	K	305;305;340	ENSP00000362330:E305K;ENSP00000308684:E305K;ENSP00000362319:E340K	ENSP00000308684:E305K	E	-	1	0	CHD6	39561351	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.575000	0.53870	2.468000	0.83385	0.561000	0.74099	GAG		0.403	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1				13	5	0	0	0	0.006122	0	13	5		
TOX2	84969	broad.mit.edu	37	20	42694696	42694696	+	Silent	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:42694696C>A	ENST00000358131.5	+	6	1459	c.1251C>A	c.(1249-1251)ccC>ccA	p.P417P	TOX2_ENST00000423191.2_Silent_p.P393P|TOX2_ENST00000372999.1_Silent_p.P393P|TOX2_ENST00000341197.4_Silent_p.P435P|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	417	Pro-rich.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCCACCCCCATGGCACTCC	0.677																																						uc002xlf.3		NaN																	0				ovary(1)	1						c.(1249-1251)CCC>CCA		TOX high mobility group box family member 2							10.0	12.0	11.0					20																	42694696		2106	4155	6261	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42694696C>A	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1251C>A	20.37:g.42694696C>A						TOX2_uc010ggo.2_Silent_p.P435P|TOX2_uc002xle.3_Silent_p.P393P|TOX2_uc010ggp.2_Silent_p.P393P|TOX2_uc002xlg.2_Intron|TOX2_uc010zwk.1_Silent_p.P313P	p.P417P	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1268	+		Myeloproliferative disorder(115;0.00452)	417			Pro-rich.		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.1251C>A	CCDS42875.1																																																																																				0.677	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2				48	25	1	0	2.47907e-22	0.00361	2.6826e-22	48	25		
ZMYND8	23613	broad.mit.edu	37	20	45875047	45875047	+	Missense_Mutation	SNP	C	C	G	rs372084926		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:45875047C>G	ENST00000311275.7	-	14	2182	c.1929G>C	c.(1927-1929)gaG>gaC	p.E643D	ZMYND8_ENST00000458360.2_Missense_Mutation_p.E638D|ZMYND8_ENST00000355972.4_Missense_Mutation_p.E643D|ZMYND8_ENST00000461685.1_Missense_Mutation_p.E663D|ZMYND8_ENST00000352431.2_Missense_Mutation_p.E663D|ZMYND8_ENST00000471951.2_Missense_Mutation_p.E663D|ZMYND8_ENST00000446994.2_Missense_Mutation_p.E580D|ZMYND8_ENST00000396281.4_Missense_Mutation_p.E643D|ZMYND8_ENST00000372023.3_Missense_Mutation_p.E638D|ZMYND8_ENST00000540497.1_Missense_Mutation_p.E591D|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Missense_Mutation_p.E638D|ZMYND8_ENST00000262975.4_Missense_Mutation_p.E643D|ZMYND8_ENST00000536340.1_Missense_Mutation_p.E670D	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	643					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CCTCTTTAATCTCCACTGGGT	0.512																																						uc002xta.1		NaN																	0				central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(1927-1929)GAG>GAC		zinc finger, MYND-type containing 8 isoform b							230.0	219.0	223.0					20																	45875047		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45875047C>G	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1929G>C	20.37:g.45875047C>G	ENSP00000312237:p.Glu643Asp					ZMYND8_uc010ghq.1_Missense_Mutation_p.E320D|ZMYND8_uc010ghr.1_Missense_Mutation_p.E618D|ZMYND8_uc002xst.1_Missense_Mutation_p.E571D|ZMYND8_uc002xsu.1_Missense_Mutation_p.E643D|ZMYND8_uc002xsv.1_Missense_Mutation_p.E571D|ZMYND8_uc002xsw.1_Missense_Mutation_p.E395D|ZMYND8_uc002xsx.1_Missense_Mutation_p.E395D|ZMYND8_uc002xsy.1_Missense_Mutation_p.E618D|ZMYND8_uc002xsz.1_Missense_Mutation_p.E580D|ZMYND8_uc010zxy.1_Missense_Mutation_p.E670D|ZMYND8_uc002xtb.1_Missense_Mutation_p.E663D|ZMYND8_uc002xss.2_Missense_Mutation_p.E643D|ZMYND8_uc010zxz.1_Missense_Mutation_p.E638D|ZMYND8_uc002xtc.1_Missense_Mutation_p.E663D|ZMYND8_uc002xtd.1_Missense_Mutation_p.E638D|ZMYND8_uc002xte.1_Missense_Mutation_p.E643D|ZMYND8_uc010zya.1_Missense_Mutation_p.E643D|ZMYND8_uc002xtf.1_Missense_Mutation_p.E663D|ZMYND8_uc002xtg.2_Missense_Mutation_p.E637D|ZMYND8_uc010ghs.1_Missense_Mutation_p.E637D	p.E643D	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2183	-			643					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.1929G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.197|7.197	0.592797|0.592797	0.13875|0.13875	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|D;D;D;D;D;D;D;D;D;D;D	.|0.90676	.|-1.87;-1.81;-1.86;-1.76;-1.92;-1.82;-1.81;-2.71;-1.75;-1.87;-2.0	5.91|5.91	3.66|3.66	0.41972|0.41972	.|.	.|0.106801	.|0.64402	.|D	.|0.000005	T|T	0.80226|0.80226	0.4584|0.4584	N|N	0.21583|0.21583	0.68|0.68	0.21967|0.21967	N|N	0.999448|0.999448	.|B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	.|0.16166	.|0.004;0.003;0.001;0.001;0.004;0.002;0.003;0.004;0.002;0.001;0.004;0.001;0.002;0.002;0.001;0.016;0.004;0.001	.|B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	.|0.17098	.|0.005;0.017;0.005;0.003;0.005;0.008;0.017;0.012;0.009;0.008;0.012;0.005;0.005;0.005;0.005;0.011;0.003;0.008	T|T	0.63875|0.63875	-0.6538|-0.6538	5|10	.|0.25751	.|T	.|0.34	-7.6093|-7.6093	4.408|4.408	0.11418|0.11418	0.1809:0.5769:0.0:0.2422|0.1809:0.5769:0.0:0.2422	.|.	.|638;670;638;638;618;637;663;643;638;663;663;643;580;638;591;663;591;643	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	H|D	571|638;643;638;644;664;663;643;670;643;580;663;638;591	.|ENSP00000354166:E638D;ENSP00000312237:E643D;ENSP00000392964:E638D;ENSP00000335537:E663D;ENSP00000379577:E643D;ENSP00000439800:E670D;ENSP00000348246:E643D;ENSP00000396725:E580D;ENSP00000418210:E663D;ENSP00000361093:E638D;ENSP00000443086:E591D	.|ENSP00000262975:E644D	D|E	-|-	1|3	0|2	ZMYND8|ZMYND8	45308454|45308454	0.245000|0.245000	0.23899|0.23899	0.522000|0.522000	0.27862|0.27862	0.497000|0.497000	0.33675|0.33675	0.758000|0.758000	0.26447|0.26447	1.498000|1.498000	0.48600|0.48600	0.655000|0.655000	0.94253|0.94253	GAT|GAG		0.512	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2		NM_183047		42	158	0	0	0	0.00361	0	42	158		
PARD6B	84612	broad.mit.edu	37	20	49354553	49354553	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:49354553G>A	ENST00000371610.2	+	2	469	c.226G>A	c.(226-228)Gat>Aat	p.D76N	PARD6B_ENST00000396039.1_Missense_Mutation_p.D76N	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	76	OPR.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AAATAATGATGATAATTATCA	0.338																																						uc002xvo.2		NaN																	0				kidney(1)	1						c.(226-228)GAT>AAT		PAR-6 beta							84.0	81.0	82.0					20																	49354553		2203	4300	6503	SO:0001583	missense	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49354553G>A	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.226G>A	20.37:g.49354553G>A	ENSP00000360672:p.Asp76Asn						p.D76N	NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN			2	469	+			76			OPR.		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	c.226G>A	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.921011	0.92249	.	.	ENSG00000124171	ENST00000371610;ENST00000396039	T;T	0.23950	1.88;1.88	6.17	6.17	0.99709	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	M	0.61703	1.905	0.80722	D	1	P	0.42248	0.774	P	0.51742	0.678	T	0.04915	-1.0918	10	0.49607	T	0.09	-44.5315	19.8676	0.96824	0.0:0.0:1.0:0.0	.	76	Q9BYG5	PAR6B_HUMAN	N	76	ENSP00000360672:D76N;ENSP00000379354:D76N	ENSP00000360672:D76N	D	+	1	0	PARD6B	48787960	1.000000	0.71417	0.795000	0.32087	0.782000	0.44232	9.431000	0.97494	2.941000	0.99782	0.655000	0.94253	GAT		0.338	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2		NM_032521		41	22	0	0	0	0.00361	0	41	22		
ZNF831	128611	broad.mit.edu	37	20	57768706	57768706	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:57768706G>A	ENST00000371030.2	+	1	2632	c.2632G>A	c.(2632-2634)Gag>Aag	p.E878K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	878							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGTGGGCGAGCCTCTGGA	0.657																																						uc002yan.2		NaN																	0				skin(13)|ovary(1)	14						c.(2632-2634)GAG>AAG		zinc finger protein 831							26.0	31.0	29.0					20																	57768706		1976	4155	6131	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768706G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2632G>A	20.37:g.57768706G>A	ENSP00000360069:p.Glu878Lys						p.E878K	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	2632	+	all_lung(29;0.0085)		878					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2632G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	6.953	0.545724	0.13312	.	.	ENSG00000124203	ENST00000371030	T	0.05258	3.47	3.81	1.77	0.24775	.	1.942110	0.02275	N	0.068868	T	0.02012	0.0063	N	0.04508	-0.205	0.09310	N	1	P	0.47253	0.892	B	0.27262	0.078	T	0.39921	-0.9590	10	0.06236	T	0.91	-2.0E-4	4.1238	0.10118	0.13:0.0:0.6398:0.2303	.	878	Q5JPB2	ZN831_HUMAN	K	878	ENSP00000360069:E878K	ENSP00000360069:E878K	E	+	1	0	ZNF831	57202101	0.000000	0.05858	0.001000	0.08648	0.100000	0.18952	0.132000	0.15891	0.197000	0.20387	0.655000	0.94253	GAG		0.657	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2		NM_178457		14	86	0	0	0	0.007413	0	14	86		
CDH4	1002	broad.mit.edu	37	20	60509192	60509192	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:60509192G>C	ENST00000360469.5	+	15	2546	c.2458G>C	c.(2458-2460)Gat>Cat	p.D820H	CDH4_ENST00000543233.1_Missense_Mutation_p.D746H	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	820					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCGTCGCGTGGATGAGCGGCC	0.677																																						uc002ybn.1		NaN																	0				lung(3)|ovary(2)|skin(1)	6						c.(2458-2460)GAT>CAT		cadherin 4, type 1 preproprotein							30.0	35.0	33.0					20																	60509192		2202	4297	6499	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60509192G>C	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2458G>C	20.37:g.60509192G>C	ENSP00000353656:p.Asp820His					CDH4_uc002ybp.1_Missense_Mutation_p.D746H	p.D820H	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		15	2472	+			820			Cytoplasmic (Potential).		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2458G>C	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273100	0.80580	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.79033	-1.23;-1.23	4.52	4.52	0.55395	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.89090	0.6616	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90665	0.4593	9	.	.	.	.	17.2442	0.87022	0.0:0.0:1.0:0.0	.	820	P55283	CADH4_HUMAN	H	820;728;746	ENSP00000353656:D820H;ENSP00000443301:D746H	.	D	+	1	0	CDH4	59942587	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	7.396000	0.79891	2.054000	0.61138	0.491000	0.48974	GAT		0.677	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2		NM_001794		11	74	0	0	0	0.004007	0	11	74		
LAMA5	3911	broad.mit.edu	37	20	60921967	60921967	+	Splice_Site	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:60921967A>C	ENST00000252999.3	-	7	1139		c.e7+1		LAMA5_ENST00000370692.3_Splice_Site|LAMA5_ENST00000370677.3_Splice_Site	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGAGGCACTCACACTGGCACT	0.687																																						uc002ycq.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.e7+1		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						66.0	62.0	63.0					20																	60921967		2202	4296	6498	SO:0001630	splice_region_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60921967A>C	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1072+1T>G	20.37:g.60921967A>C							p.S358_splice	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		7	1139	-	Breast(26;1.57e-08)							Q8TDF8|Q8WZA7|Q9H1P1	Splice_Site	SNP	ENST00000252999.3	37	c.1072_splice	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.733672	0.48939	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1164	0.65156	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA5	60355362	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	9.050000	0.93843	1.729000	0.51567	0.454000	0.30748	.		0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560	Intron	33	52	0	0	0	0.007835	0	33	52		
CABLES2	81928	broad.mit.edu	37	20	60968519	60968519	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:60968519G>A	ENST00000279101.5	-	6	865	c.857C>T	c.(856-858)tCg>tTg	p.S286L		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	286					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCTGGTGCCGACTTGGTGGG	0.637																																						uc002ycv.2		NaN																	0				pancreas(1)	1						c.(856-858)TCG>TTG		Cdk5 and Abl enzyme substrate 2							101.0	96.0	98.0					20																	60968519		2203	4300	6503	SO:0001583	missense	81928				cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	g.chr20:60968519G>A	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 150"""	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.857C>T	20.37:g.60968519G>A	ENSP00000279101:p.Ser286Leu						p.S286L	NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		6	864	-	Breast(26;2.05e-08)		286					Q5JWL0|Q9BYK0	Missense_Mutation	SNP	ENST00000279101.5	37	c.857C>T	CCDS33503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.978|7.978	0.750535|0.750535	0.15778|0.15778	.|.	.|.	ENSG00000149679|ENSG00000149679	ENST00000453274|ENST00000370560;ENST00000279101	.|T	.|0.46819	.|0.86	4.79|4.79	3.84|3.84	0.44239|0.44239	.|.	.|1.212610	.|0.05928	.|N	.|0.634723	T|T	0.43942|0.43942	0.1270|0.1270	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|B	.|0.17465	.|0.022	.|B	.|0.15052	.|0.012	T|T	0.31558|0.31558	-0.9939|-0.9939	5|10	.|0.33940	.|T	.|0.23	0.1997|0.1997	9.7398|9.7398	0.40411|0.40411	0.1673:0.0:0.8327:0.0|0.1673:0.0:0.8327:0.0	.|.	.|286	.|Q9BTV7	.|CABL2_HUMAN	W|L	80|74;286	.|ENSP00000279101:S286L	.|ENSP00000279101:S286L	R|S	-|-	1|2	2|0	CABLES2|CABLES2	60401914|60401914	0.892000|0.892000	0.30473|0.30473	0.025000|0.025000	0.17156|0.17156	0.018000|0.018000	0.09664|0.09664	3.988000|3.988000	0.56951|0.56951	1.014000|1.014000	0.39417|0.39417	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.637	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2		XM_037265		45	151	0	0	0	0.00361	0	45	151		
LTN1	26046	broad.mit.edu	37	21	30339132	30339132	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:30339132C>G	ENST00000361371.5	-	10	1760	c.1681G>C	c.(1681-1683)Gag>Cag	p.E561Q	LTN1_ENST00000389194.2_Missense_Mutation_p.E607Q|LTN1_ENST00000389195.2_Missense_Mutation_p.E607Q			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	561					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TCAATCTTCTCTCCTTCTGAA	0.348																																						uc002ymr.2		NaN																	0					0						c.(1819-1821)GAG>CAG		zinc finger protein 294							58.0	53.0	55.0					21																	30339132		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30339132C>G	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1681G>C	21.37:g.30339132C>G	ENSP00000354977:p.Glu561Gln					RNF160_uc010gll.1_RNA	p.E607Q	NM_015565	NP_056380	O94822	LTN1_HUMAN			10	1832	-			561					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.1819G>C		.	.	.	.	.	.	.	.	.	.	C	4.323	0.059264	0.08339	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	T;T;T	0.24151	2.21;2.22;1.87	4.75	2.9	0.33743	.	0.361372	0.29300	N	0.012558	T	0.11836	0.0288	N	0.14661	0.345	0.43137	D	0.994886	B	0.19445	0.036	B	0.15870	0.014	T	0.12863	-1.0531	10	0.24483	T	0.36	.	4.7138	0.12886	0.0:0.4496:0.3376:0.2128	.	561	O94822	LTN1_HUMAN	Q	607;561;607	ENSP00000373846:E607Q;ENSP00000354977:E561Q;ENSP00000373847:E607Q	ENSP00000354977:E561Q	E	-	1	0	LTN1	29261003	0.781000	0.28676	0.955000	0.39395	0.074000	0.17049	0.683000	0.25349	0.688000	0.31529	-0.142000	0.14014	GAG		0.348	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1		NM_015565		13	7	0	0	0	0.001855	0	13	7		
GRIK1	2897	broad.mit.edu	37	21	30934029	30934029	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:30934029C>G	ENST00000399907.1	-	15	2683	c.2272G>C	c.(2272-2274)Gag>Cag	p.E758Q	GRIK1_ENST00000399913.1_Missense_Mutation_p.E758Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.E743Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.E760Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.E758Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.E743Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.E760Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.E758Q|GRIK1_ENST00000399914.1_Missense_Mutation_p.E743Q	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	758					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GTCACATACTCAATGCTGGTG	0.547																																						uc002yno.1		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(2272-2274)GAG>CAG		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						162.0	130.0	141.0					21																	30934029		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30934029C>G		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2272G>C	21.37:g.30934029C>G	ENSP00000382791:p.Glu758Gln					GRIK1_uc002ynn.2_Missense_Mutation_p.E743Q|GRIK1_uc011acs.1_Missense_Mutation_p.E758Q|GRIK1_uc011act.1_Missense_Mutation_p.E619Q	p.E758Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN			15	2736	-			758			Extracellular (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.2272G>C	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930118	0.92389	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73	4.83	4.83	0.62350	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.69078	0.997;0.993;0.993;0.991	D;D;D;P	0.65323	0.934;0.934;0.934;0.891	T	0.19647	-1.0299	10	0.87932	D	0	.	18.0825	0.89445	0.0:1.0:0.0:0.0	.	743;758;758;743	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	Q	758;743;758;743;760;619;758;758;743;760	ENSP00000327687:E758Q;ENSP00000373777:E743Q;ENSP00000382797:E758Q;ENSP00000382798:E743Q;ENSP00000446326:E760Q;ENSP00000373776:E758Q;ENSP00000382791:E758Q;ENSP00000382793:E743Q;ENSP00000311646:E760Q	ENSP00000311646:E760Q	E	-	1	0	GRIK1	29855900	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.573000	0.82421	2.665000	0.90641	0.563000	0.77884	GAG		0.547	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1				48	31	0	0	0	0.00361	0	48	31		
GRIK1	2897	broad.mit.edu	37	21	31066295	31066295	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:31066295C>T	ENST00000399907.1	-	2	617	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Missense_Mutation_p.R69Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.R69Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.R69Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.R69Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.R69Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.R69Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.R69Q|GRIK1_ENST00000399914.1_Missense_Mutation_p.R69Q	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	69					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CATCAGGGTTCGGTTTCTGTT	0.398																																						uc002yno.1		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(205-207)CGA>CAA		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						169.0	157.0	161.0					21																	31066295		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31066295C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.206G>A	21.37:g.31066295C>T	ENSP00000382791:p.Arg69Gln					GRIK1_uc002ynn.2_Missense_Mutation_p.R69Q|GRIK1_uc011acs.1_Missense_Mutation_p.R69Q|GRIK1_uc011act.1_Intron|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Missense_Mutation_p.R69Q	p.R69Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN			2	670	-			69			Extracellular (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.206G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424018	0.83667	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	4.91	4.91	0.64330	Extracellular ligand-binding receptor (1);	0.063178	0.64402	D	0.000013	T	0.27205	0.0667	M	0.77820	2.39	0.80722	D	1	P;P;P;P	0.50066	0.931;0.931;0.931;0.916	B;B;B;B	0.37989	0.262;0.262;0.262;0.122	T	0.24333	-1.0163	10	0.37606	T	0.19	.	17.8871	0.88858	0.0:1.0:0.0:0.0	.	69;69;69;69	E9PD61;B7Z3V7;P39086;P39086-2	.;.;GRIK1_HUMAN;.	Q	69	ENSP00000327687:R69Q;ENSP00000373777:R69Q;ENSP00000382797:R69Q;ENSP00000382798:R69Q;ENSP00000446326:R69Q;ENSP00000373776:R69Q;ENSP00000382791:R69Q;ENSP00000382793:R69Q;ENSP00000311646:R69Q	ENSP00000311646:R69Q	R	-	2	0	GRIK1	29988166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.578000	0.60929	2.551000	0.86045	0.655000	0.94253	CGA		0.398	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1				26	71	0	0	0	0.012213	0	26	71		
SON	6651	broad.mit.edu	37	21	34926321	34926321	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:34926321C>T	ENST00000356577.4	+	3	5259	c.4784C>T	c.(4783-4785)tCt>tTt	p.S1595F	SON_ENST00000300278.4_Missense_Mutation_p.S1595F|SON_ENST00000381679.4_Missense_Mutation_p.S1595F|SON_ENST00000290239.6_Missense_Mutation_p.S1595F|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1595					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ACTCTATCTTCTACTGGTCCT	0.413																																						uc002yse.1		NaN																	0				ovary(4)|skin(2)	6						c.(4783-4785)TCT>TTT		SON DNA-binding protein isoform F							72.0	76.0	75.0					21																	34926321		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34926321C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.4784C>T	21.37:g.34926321C>T	ENSP00000348984:p.Ser1595Phe					SON_uc002ysb.1_Missense_Mutation_p.S1595F|SON_uc002ysc.2_Missense_Mutation_p.S1595F|SON_uc002ysd.2_Missense_Mutation_p.S586F|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S586F	p.S1595F	NM_138927	NP_620305	P18583	SON_HUMAN			3	4833	+			1595					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.4784C>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	1.909	-0.451098	0.04572	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.15487	2.64;2.62;2.6;2.42	4.87	1.95	0.26073	.	0.708385	0.12886	N	0.430978	T	0.32041	0.0816	L	0.50333	1.59	0.09310	N	1	P;P;P;P;D	0.71674	0.545;0.553;0.545;0.799;0.998	B;B;B;B;D	0.77004	0.206;0.102;0.136;0.206;0.989	T	0.08638	-1.0712	10	0.87932	D	0	.	8.0973	0.30835	0.1711:0.4979:0.331:0.0	.	1595;1595;1276;1595;1595	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	F	1595	ENSP00000348984:S1595F;ENSP00000290239:S1595F;ENSP00000300278:S1595F;ENSP00000371095:S1595F	ENSP00000290239:S1595F	S	+	2	0	SON	33848191	0.833000	0.29383	0.044000	0.18714	0.180000	0.23129	3.492000	0.53259	0.215000	0.20761	0.491000	0.48974	TCT		0.413	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2		NM_138927		25	51	0	0	0	0.007291	0	25	51		
SLC5A3	6526	broad.mit.edu	37	21	35468011	35468011	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:35468011C>T	ENST00000381151.3	+	2	1026	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	SLC5A3_ENST00000608209.1_Silent_p.L172L|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	172					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GACTGCTTTGCTGACTGTCAC	0.473																																						uc002yto.2		NaN																	0				ovary(2)	2						c.(514-516)CTG>TTG		solute carrier family 5 (inositol transporters),							117.0	115.0	116.0					21																	35468011		2203	4300	6503	SO:0001819	synonymous_variant	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468011C>T		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.514C>T	21.37:g.35468011C>T						MRPS6_uc002ytp.2_Intron	p.L172L	NM_006933	NP_008864	P53794	SC5A3_HUMAN			2	1026	+			172			Helical; (Potential).		O43489	Silent	SNP	ENST00000381151.3	37	c.514C>T	CCDS33549.1																																																																																				0.473	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1				29	84	0	0	0	0.004878	0	29	84		
COL18A1	80781	broad.mit.edu	37	21	46876059	46876059	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:46876059C>G	ENST00000359759.4	+	1	636	c.615C>G	c.(613-615)ctC>ctG	p.L205L	COL18A1_ENST00000355480.5_Silent_p.L205L|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	205					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGCACCACTCACGGGGCCCT	0.687																																						uc011afs.1		NaN																	0				central_nervous_system(1)	1						c.(613-615)CTC>CTG		alpha 1 type XVIII collagen isoform 3 precursor							30.0	39.0	36.0					21																	46876059		2010	4163	6173	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46876059C>G		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.615C>G	21.37:g.46876059C>G						COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Silent_p.L205L	p.L205L	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	1	636	+			205					A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.615C>G																																																																																					0.687	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1				18	52	0	0	0	0.010504	0	18	52		
IL17RA	23765	broad.mit.edu	37	22	17579721	17579721	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:17579721G>A	ENST00000319363.6	+	4	500	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	123					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GAACACCAATGAACGTTTGTG	0.512																																						uc002zly.2		NaN																	0				skin(2)	2						c.(367-369)GAA>AAA		interleukin 17A receptor precursor							177.0	138.0	151.0					22																	17579721		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17579721G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.367G>A	22.37:g.17579721G>A	ENSP00000320936:p.Glu123Lys					IL17RA_uc010gqt.2_Missense_Mutation_p.E123K	p.E123K	NM_014339	NP_055154	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	4	500	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	123			Extracellular (Potential).		O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.367G>A	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071156	0.76301	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.21031	2.03	5.97	5.97	0.96955	.	0.248854	0.32852	N	0.005570	T	0.44329	0.1288	M	0.66939	2.045	0.38635	D	0.95147	D;D	0.89917	1.0;1.0	D;D	0.91635	0.983;0.999	T	0.33214	-0.9877	10	0.49607	T	0.09	-30.1671	13.5485	0.61717	0.0:0.1557:0.8442:0.0	.	123;123	D3YTB4;Q96F46	.;I17RA_HUMAN	K	123	ENSP00000320936:E123K	ENSP00000320936:E123K	E	+	1	0	IL17RA	15959721	0.997000	0.39634	0.979000	0.43373	0.512000	0.34134	3.383000	0.52471	2.837000	0.97791	0.655000	0.94253	GAA		0.512	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1		NM_014339		26	102	0	0	0	0.008361	0	26	102		
CLTCL1	8218	broad.mit.edu	37	22	19196576	19196576	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:19196576C>G	ENST00000263200.10	-	21	3370	c.3298G>C	c.(3298-3300)Gag>Cag	p.E1100Q	CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1100Q|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1100Q|CLTCL1_ENST00000442042.2_5'Flank	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1100	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTGCATCTCTCCGCAAACTCA	0.517			T	?	ALCL																																	uc002zpb.2		NaN		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	NaN		ALCL		0				ovary(4)|central_nervous_system(1)	5						c.(3298-3300)GAG>CAG		clathrin, heavy polypeptide-like 1 isoform 1							67.0	68.0	68.0					22																	19196576		2052	4234	6286	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19196576C>G		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3298G>C	22.37:g.19196576C>G	ENSP00000445677:p.Glu1100Gln					CLTCL1_uc011agv.1_Missense_Mutation_p.E1100Q|CLTCL1_uc011agw.1_Missense_Mutation_p.E1100Q|CLTCL1_uc011agt.1_5'Flank|CLTCL1_uc011agu.1_5'Flank|CLTCL1_uc010grm.1_5'UTR|CLTCL1_uc002zpe.2_Missense_Mutation_p.E60Q|CLTCL1_uc002zpd.1_Missense_Mutation_p.E60Q	p.E1100Q	NM_007098	NP_009029	P53675	CLH2_HUMAN			21	3373	-	Colorectal(54;0.0993)		1100			Proximal segment.|Heavy chain arm.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3298G>C	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094509	0.36952	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.21932	1.98;1.98;1.98	4.0	2.98	0.34508	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.168148	0.43110	D	0.000616	T	0.41880	0.1178	M	0.75264	2.295	0.58432	D	0.999996	D;D	0.76494	0.999;0.999	D;D	0.97110	0.996;1.0	T	0.21965	-1.0230	10	0.25751	T	0.34	-18.7283	11.3598	0.49636	0.0:0.911:0.0:0.089	.	1100;1100	P53675-2;P53675	.;CLH2_HUMAN	Q	1100	ENSP00000439662:E1100Q;ENSP00000445677:E1100Q;ENSP00000441158:E1100Q	ENSP00000445677:E1100Q	E	-	1	0	CLTCL1	17576576	1.000000	0.71417	0.163000	0.22734	0.046000	0.14306	5.289000	0.65656	0.881000	0.35993	0.655000	0.94253	GAG		0.517	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5		NM_007098		7	16	0	0	0	0.00308	0	7	16		
RTN4R	65078	broad.mit.edu	37	22	20230351	20230351	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:20230351G>C	ENST00000043402.7	-	2	743	c.305C>G	c.(304-306)aCt>aGt	p.T102S	RTN4R_ENST00000469601.1_5'UTR	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	102					axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GGCCAGGCCAGTGAAGGCAGC	0.637																																						uc002zrv.2		NaN																	0					0						c.(304-306)ACT>AGT		reticulon 4 receptor precursor							33.0	32.0	33.0					22																	20230351		2203	4299	6502	SO:0001583	missense	65078				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity	g.chr22:20230351G>C	AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.305C>G	22.37:g.20230351G>C	ENSP00000043402:p.Thr102Ser					RTN4R_uc002zru.2_5'UTR	p.T102S	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN			2	506	-	Colorectal(54;0.0993)		102			LRR 2.		D3DX28	Missense_Mutation	SNP	ENST00000043402.7	37	c.305C>G	CCDS13777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.005|0.005	-2.148034|-2.148034	0.00328|0.00328	.|.	.|.	ENSG00000040608|ENSG00000040608	ENST00000416372;ENST00000425986|ENST00000043402	.|T	.|0.55234	.|0.53	4.42|4.42	4.42|4.42	0.53409|0.53409	.|.	.|0.974000	.|0.08348	.|N	.|0.959717	T|T	0.29491|0.29491	0.0735|0.0735	N|N	0.04880|0.04880	-0.145|-0.145	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.10776|0.10776	-1.0615|-1.0615	5|10	.|0.08599	.|T	.|0.76	.|.	9.7319|9.7319	0.40366|0.40366	0.0:0.0:0.7935:0.2065|0.0:0.0:0.7935:0.2065	.|.	.|102	.|Q9BZR6	.|RTN4R_HUMAN	V|S	122;188|102	.|ENSP00000043402:T102S	.|ENSP00000043402:T102S	L|T	-|-	1|2	2|0	RTN4R|RTN4R	18610351|18610351	0.000000|0.000000	0.05858|0.05858	0.012000|0.012000	0.15200|0.15200	0.002000|0.002000	0.02628|0.02628	0.857000|0.857000	0.27831|0.27831	2.287000|2.287000	0.76781|0.76781	0.561000|0.561000	0.74099|0.74099	CTG|ACT		0.637	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2				48	25	0	0	0	0.00361	0	48	25		
SNAP29	9342	broad.mit.edu	37	22	21213633	21213633	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:21213633G>A	ENST00000215730.7	+	1	363	c.235G>A	c.(235-237)Gag>Aag	p.E79K	PI4KA_ENST00000255882.6_5'Flank|PI4KA_ENST00000572273.1_5'Flank	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	79					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CGCCTCTTCCGAGGTGAGCCT	0.612																																						uc011ahw.1		NaN																	0					0						c.(235-237)GAG>AAG		synaptosomal-associated protein 29							27.0	29.0	28.0					22																	21213633		2198	4282	6480	SO:0001583	missense	9342				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	g.chr22:21213633G>A	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.235G>A	22.37:g.21213633G>A	ENSP00000215730:p.Glu79Lys					PI4KA_uc002zsz.3_5'Flank|PI4KA_uc010gsq.1_5'Flank	p.E79K	NM_004782	NP_004773	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		1	342	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	79			Potential.			Missense_Mutation	SNP	ENST00000215730.7	37	c.235G>A	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059561	0.93846	.	.	ENSG00000099940	ENST00000215730	T	0.80123	-1.34	5.35	5.35	0.76521	Target SNARE coiled-coil domain (1);	0.000000	0.85682	D	0.000000	D	0.88581	0.6475	M	0.85542	2.76	0.80722	D	1	D	0.71674	0.998	P	0.61722	0.893	D	0.85882	0.1423	10	0.08599	T	0.76	-28.8294	19.0609	0.93093	0.0:0.0:1.0:0.0	.	79	O95721	SNP29_HUMAN	K	79	ENSP00000215730:E79K	ENSP00000215730:E79K	E	+	1	0	SNAP29	19543633	1.000000	0.71417	0.948000	0.38648	0.018000	0.09664	7.036000	0.76524	2.491000	0.84063	0.591000	0.81541	GAG		0.612	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4		NM_004782		27	44	0	0	0	0.003755	0	27	44		
AP1B1	162	broad.mit.edu	37	22	29738343	29738343	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:29738343C>T	ENST00000405198.1	-	11	1498	c.1467G>A	c.(1465-1467)gtG>gtA	p.V489V	AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000432560.2_Silent_p.V489V|AP1B1_ENST00000356015.2_Silent_p.V489V|AP1B1_ENST00000317368.7_Silent_p.V489V|AP1B1_ENST00000357586.2_Silent_p.V489V|AP1B1_ENST00000415447.1_Silent_p.V489V|AP1B1_ENST00000402502.1_Silent_p.V489V			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	489					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAAAGAGTTTCACAATGGCTG	0.582																																						uc003afj.2		NaN																	0				ovary(1)|skin(1)	2						c.(1465-1467)GTG>GTA		adaptor-related protein complex 1 beta 1 subunit							55.0	50.0	52.0					22																	29738343		2203	4300	6503	SO:0001819	synonymous_variant	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29738343C>T	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1467G>A	22.37:g.29738343C>T						AP1B1_uc003afi.2_Silent_p.V489V|AP1B1_uc003afk.2_Silent_p.V489V|AP1B1_uc003afl.2_Silent_p.V489V|AP1B1_uc011ako.1_Silent_p.V42V	p.V489V	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			12	1651	-			489					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	ENST00000405198.1	37	c.1467G>A	CCDS13855.1																																																																																				0.582	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1		NM_001127		61	19	0	0	0	0.00361	0	61	19		
ASCC2	84164	broad.mit.edu	37	22	30185085	30185085	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:30185085C>A	ENST00000397771.2	-	21	2368	c.2191G>T	c.(2191-2193)Gaa>Taa	p.E731*	ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E655*|ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E731*			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	731					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TTGTTGGCTTCCTTCTTCCTG	0.622																																						uc003agr.2		NaN																	0					0						c.(2191-2193)GAA>TAA		activating signal cointegrator 1 complex subunit							383.0	312.0	336.0					22																	30185085		2203	4300	6503	SO:0001587	stop_gained	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30185085C>A	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.2191G>T	22.37:g.30185085C>A	ENSP00000380877:p.Glu731*					ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Nonsense_Mutation_p.E731*|ASCC2_uc011akr.1_Nonsense_Mutation_p.E655*	p.E731*	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		20	2296	-			731					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Nonsense_Mutation	SNP	ENST00000397771.2	37	c.2191G>T	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	C	39	7.765031	0.98477	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-20.9739	19.2448	0.93898	0.0:1.0:0.0:0.0	.	.	.	.	X	731;731;655	.	ENSP00000305502:E731X	E	-	1	0	ASCC2	28515085	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.416000	0.80143	2.793000	0.96121	0.561000	0.74099	GAA		0.622	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1		NM_032204		119	403	1	0	2.43435e-39	0.00361	2.65603e-39	119	403		
SLC5A4	6527	broad.mit.edu	37	22	32616910	32616910	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:32616910C>T	ENST00000266086.4	-	14	1776	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	589					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATATTACCTTCTTCAACACCA	0.408																																						uc003ami.2		NaN																	0					0						c.(1765-1767)GAA>AAA		solute carrier family 5 (low affinity glucose							252.0	220.0	231.0					22																	32616910		2202	4300	6502	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32616910C>T	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1765G>A	22.37:g.32616910C>T	ENSP00000266086:p.Glu589Lys						p.E589K	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			14	1767	-			589			Cytoplasmic (Potential).		O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.1765G>A	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	C	5.534	0.283431	0.10458	.	.	ENSG00000100191	ENST00000266086	D	0.86097	-2.07	4.19	2.08	0.27032	.	0.407546	0.23014	U	0.052936	T	0.79246	0.4413	M	0.76574	2.34	0.29650	N	0.844068	B	0.16166	0.016	B	0.14578	0.011	T	0.62868	-0.6763	10	0.08837	T	0.75	.	6.2106	0.20628	0.0:0.6857:0.0:0.3143	.	589	Q9NY91	SC5A4_HUMAN	K	589	ENSP00000266086:E589K	ENSP00000266086:E589K	E	-	1	0	SLC5A4	30946910	0.081000	0.21417	0.020000	0.16555	0.014000	0.08584	0.364000	0.20325	0.526000	0.28541	-0.373000	0.07131	GAA		0.408	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1		NM_014227		47	65	0	0	0	0.00361	0	47	65		
RASD2	23551	broad.mit.edu	37	22	35947637	35947637	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:35947637A>G	ENST00000216127.4	+	3	1001	c.359A>G	c.(358-360)aAg>aGg	p.K120R		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	120					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CTGGAGGTCAAGTCCTGCCTG	0.597																																						uc003anx.2		NaN																	0				lung(2)|skin(1)	3						c.(358-360)AAG>AGG		RASD family, member 2 precursor							98.0	90.0	92.0					22																	35947637		2203	4300	6503	SO:0001583	missense	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35947637A>G	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.359A>G	22.37:g.35947637A>G	ENSP00000216127:p.Lys120Arg					RASD2_uc003any.2_Missense_Mutation_p.K120R	p.K120R	NM_014310	NP_055125	Q96D21	RHES_HUMAN			3	564	+			120					O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	c.359A>G	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.739179	0.89573	.	.	ENSG00000100302	ENST00000216127	T	0.77358	-1.09	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	L	0.45422	1.42	0.58432	D	0.999996	D	0.55172	0.97	D	0.64237	0.923	T	0.81865	-0.0736	10	0.37606	T	0.19	.	15.806	0.78513	1.0:0.0:0.0:0.0	.	120	Q96D21	RHES_HUMAN	R	120	ENSP00000216127:K120R	ENSP00000216127:K120R	K	+	2	0	RASD2	34277583	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.846000	0.92159	2.142000	0.66516	0.459000	0.35465	AAG		0.597	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1		NM_014310		28	98	0	0	0	0.003755	0	28	98		
MYH9	4627	broad.mit.edu	37	22	36681357	36681357	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:36681357C>T	ENST00000216181.5	-	38	5523	c.5293G>A	c.(5293-5295)Gac>Aac	p.D1765N	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1765					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGGTTCAGGTCGGTGTTGATC	0.617			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NaN		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(5293-5295)GAC>AAC		myosin, heavy polypeptide 9, non-muscle							109.0	99.0	102.0					22																	36681357		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36681357C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5293G>A	22.37:g.36681357C>T	ENSP00000216181:p.Asp1765Asn						p.D1765N	NM_002473	NP_002464	P35579	MYH9_HUMAN			38	5524	-			1765			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.5293G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700098	0.88924	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	D	0.83914	-1.78	5.14	5.14	0.70334	Myosin tail (1);Regulator of G protein signalling superfamily (1);	0.055709	0.64402	D	0.000001	D	0.83843	0.5342	M	0.62723	1.935	0.80722	D	1	P	0.47962	0.903	B	0.43658	0.426	D	0.86688	0.1921	10	0.87932	D	0	.	18.5986	0.91239	0.0:1.0:0.0:0.0	.	1765	P35579	MYH9_HUMAN	N	1187;367;1765	ENSP00000216181:D1765N	ENSP00000216181:D1765N	D	-	1	0	MYH9	35011303	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.495000	0.81514	2.375000	0.81037	0.557000	0.71058	GAC		0.617	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		36	118	0	0	0	0.007835	0	36	118		
TXN2	25828	broad.mit.edu	37	22	36876824	36876824	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:36876824G>C	ENST00000216185.2	-	2	527	c.61C>G	c.(61-63)Cag>Gag	p.Q21E	TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.Q21E|TXN2_ENST00000487725.1_Intron			Q99757	THIOM_HUMAN	thioredoxin 2	21					cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|lung(1)|prostate(1)	3						CACTGACCCTGAGAGGGCTTC	0.577																																						uc003apk.1		NaN																	0					0						c.(61-63)CAG>GAG		thioredoxin 2 precursor							81.0	79.0	80.0					22																	36876824		2203	4300	6503	SO:0001583	missense	25828				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	g.chr22:36876824G>C	U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.61C>G	22.37:g.36876824G>C	ENSP00000216185:p.Gln21Glu					TXN2_uc003apl.1_RNA	p.Q21E	NM_012473	NP_036605	Q99757	THIOM_HUMAN			2	138	-			21					Q5JZA0|Q6FH60|Q9UH29	Missense_Mutation	SNP	ENST00000216185.2	37	c.61C>G	CCDS13928.1	.	.	.	.	.	.	.	.	.	.	g	13.23	2.174334	0.38413	.	.	ENSG00000100348	ENST00000216185;ENST00000403313	T;T	0.11277	2.79;2.79	5.59	5.59	0.84812	.	0.511565	0.20166	N	0.097857	T	0.08802	0.0218	L	0.27053	0.805	0.31712	N	0.639437	B	0.23377	0.084	B	0.24155	0.051	T	0.08700	-1.0709	10	0.02654	T	1	.	18.444	0.90677	0.0:0.0:1.0:0.0	.	21	Q99757	THIOM_HUMAN	E	21	ENSP00000216185:Q21E;ENSP00000385393:Q21E	ENSP00000216185:Q21E	Q	-	1	0	TXN2	35206770	0.624000	0.27102	0.483000	0.27378	0.732000	0.41865	2.241000	0.43097	2.651000	0.90000	0.525000	0.51046	CAG		0.577	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319016.1		NM_012473		23	78	0	0	0	0.00333	0	23	78		
FOXRED2	80020	broad.mit.edu	37	22	36900716	36900716	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:36900716C>T	ENST00000397224.4	-	3	718	c.625G>A	c.(625-627)Gag>Aag	p.E209K	FOXRED2_ENST00000216187.6_Missense_Mutation_p.E209K|FOXRED2_ENST00000397223.4_Missense_Mutation_p.E209K	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	209					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACAAAGTCCTCAGGGTCCACG	0.527																																						uc003apn.3		NaN																	0				lung(1)|kidney(1)	2						c.(625-627)GAG>AAG		FAD-dependent oxidoreductase domain containing 2							75.0	63.0	67.0					22																	36900716		2203	4300	6503	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36900716C>T	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.625G>A	22.37:g.36900716C>T	ENSP00000380401:p.Glu209Lys					FOXRED2_uc003apo.3_Missense_Mutation_p.E209K|FOXRED2_uc003app.3_Missense_Mutation_p.E209K	p.E209K	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN			2	733	-			209					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.625G>A	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	C	6.108	0.388097	0.11581	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.17213	2.29;2.29;2.29	5.6	0.893	0.19236	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.428746	0.28431	N	0.015376	T	0.10165	0.0249	L	0.33293	1	0.21064	N	0.999795	B	0.10296	0.003	B	0.14023	0.01	T	0.40156	-0.9578	10	0.11182	T	0.66	-5.0366	7.9458	0.29985	0.0:0.6231:0.1184:0.2584	.	209	Q8IWF2	FXRD2_HUMAN	K	209	ENSP00000380401:E209K;ENSP00000216187:E209K;ENSP00000380400:E209K	ENSP00000216187:E209K	E	-	1	0	FOXRED2	35230662	0.002000	0.14202	0.529000	0.27951	0.077000	0.17291	0.067000	0.14510	-0.056000	0.13221	-0.136000	0.14681	GAG		0.527	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2		NM_024955		63	44	0	0	0	0.00361	0	63	44		
RPL3	6122	broad.mit.edu	37	22	39712783	39712783	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:39712783C>G	ENST00000216146.4	-	4	602	c.429G>C	c.(427-429)aaG>aaC	p.K143N	RPL3_ENST00000401609.1_Missense_Mutation_p.K91N|SNORD83A_ENST00000386747.1_RNA|SNORD83B_ENST00000386745.1_RNA|SNORD43_ENST00000583861.1_RNA|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	143					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	CCAGCTGCTTCTTGCCATCCT	0.547											OREG0026575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003axi.2		NaN																	0				breast(1)|kidney(1)	2						c.(427-429)AAG>AAC		ribosomal protein L3 isoform a							73.0	67.0	69.0					22																	39712783		2203	4296	6499	SO:0001583	missense	6122				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr22:39712783C>G	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.429G>C	22.37:g.39712783C>G	ENSP00000346001:p.Lys143Asn		OREG0026575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	887	RPL3_uc003axh.2_Intron|RPL3_uc003axj.2_5'UTR|RPL3_uc010gxx.2_Missense_Mutation_p.K91N|RPL3_uc003axg.2_Missense_Mutation_p.K91N|RPL3_uc003axk.1_5'UTR	p.K143N	NM_000967	NP_000958	P39023	RL3_HUMAN			4	497	-	Melanoma(58;0.04)		143					B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	ENST00000216146.4	37	c.429G>C	CCDS13988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.07|19.07	3.754939|3.754939	0.69648|0.69648	.|.	.|.	ENSG00000100316|ENSG00000100316	ENST00000427905|ENST00000401609;ENST00000216146;ENST00000402527;ENST00000453303	.|T;T;T;T	.|0.24151	.|1.87;1.87;1.87;1.87	5.06|5.06	1.77|1.77	0.24775|0.24775	.|Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	.|0.045327	.|0.85682	.|D	.|0.000000	T|T	0.50446|0.50446	0.1616|0.1616	M|M	0.87900|0.87900	2.915|2.915	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.71674	.|0.997;0.998	.|D;D	.|0.71414	.|0.972;0.973	T|T	0.54483|0.54483	-0.8287|-0.8287	5|10	.|0.66056	.|D	.|0.02	.|.	9.8245|9.8245	0.40903|0.40903	0.0:0.6914:0.0:0.3086|0.0:0.6914:0.0:0.3086	.|.	.|114;143	.|Q8TBW1;P39023	.|.;RL3_HUMAN	Q|N	175|91;143;91;170	.|ENSP00000386101:K91N;ENSP00000346001:K143N;ENSP00000385762:K91N;ENSP00000415198:K170N	.|ENSP00000346001:K143N	E|K	-|-	1|3	0|2	RPL3|RPL3	38042729|38042729	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	2.600000|2.600000	0.46240|0.46240	0.549000|0.549000	0.28973|0.28973	0.462000|0.462000	0.41574|0.41574	GAA|AAG		0.547	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1		NM_000967		29	106	0	0	0	0.007291	0	29	106		
FAM83F	113828	broad.mit.edu	37	22	40417887	40417887	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:40417887G>A	ENST00000333407.6	+	4	1467	c.1373G>A	c.(1372-1374)aGc>aAc	p.S458N	FAM83F_ENST00000473717.1_Missense_Mutation_p.S290N	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	458										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GGCATGGCCAGCTCTGTCTCC	0.657																																						uc003ayk.1		NaN																	0				breast(1)	1						c.(1372-1374)AGC>AAC		hypothetical protein LOC113828							41.0	49.0	46.0					22																	40417887		2155	4263	6418	SO:0001583	missense	113828							g.chr22:40417887G>A		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1373G>A	22.37:g.40417887G>A	ENSP00000330432:p.Ser458Asn						p.S458N	NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN			4	1467	+			458					Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	37	c.1373G>A	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	G	0.101	-1.152849	0.01700	.	.	ENSG00000133477	ENST00000333407	T	0.08458	3.09	5.14	4.11	0.48088	.	0.238487	0.30036	N	0.010574	T	0.05456	0.0144	L	0.29908	0.895	0.27609	N	0.948717	B	0.15473	0.013	B	0.10450	0.005	T	0.35375	-0.9791	10	0.17832	T	0.49	-20.7872	5.3791	0.16181	0.1255:0.2059:0.6687:0.0	.	458	Q8NEG4	FA83F_HUMAN	N	458	ENSP00000330432:S458N	ENSP00000330432:S458N	S	+	2	0	FAM83F	38747833	0.744000	0.28250	0.785000	0.31869	0.025000	0.11179	1.207000	0.32333	1.373000	0.46208	-0.305000	0.09177	AGC		0.657	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3		NM_138435		14	80	0	0	0	0.010504	0	14	80		
EP300	2033	broad.mit.edu	37	22	41537064	41537064	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:41537064C>G	ENST00000263253.7	+	10	3110	c.1891C>G	c.(1891-1893)Cac>Gac	p.H631D		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	631	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGAATACTACCACCTTCTAGC	0.373			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(1891-1893)CAC>GAC		E1A binding protein p300							49.0	48.0	49.0					22																	41537064		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41537064C>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1891C>G	22.37:g.41537064C>G	ENSP00000263253:p.His631Asp						p.H631D	NM_001429	NP_001420	Q09472	EP300_HUMAN			10	2286	+			631			KIX.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.1891C>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693140	0.88735	.	.	ENSG00000100393	ENST00000263253	D	0.85861	-2.04	5.18	5.18	0.71444	Coactivator CBP, KIX (4);	0.000000	0.48767	D	0.000164	D	0.92841	0.7723	M	0.85945	2.785	0.58432	D	0.999992	D	0.56521	0.976	D	0.68765	0.96	D	0.93806	0.7105	10	0.87932	D	0	-11.9363	17.2256	0.86969	0.0:1.0:0.0:0.0	.	631	Q09472	EP300_HUMAN	D	631	ENSP00000263253:H631D	ENSP00000263253:H631D	H	+	1	0	EP300	39867010	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.776000	0.85560	2.561000	0.86390	0.467000	0.42956	CAC		0.373	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		16	15	0	0	0	0.006122	0	16	15		
TCF20	6942	broad.mit.edu	37	22	42607575	42607575	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:42607575G>C	ENST00000359486.3	-	1	3873	c.3737C>G	c.(3736-3738)tCt>tGt	p.S1246C	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.S1246C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTTTTGAGAAGAATGATCCTC	0.483																																						uc003bcj.1		NaN																	0				ovary(4)|skin(1)	5						c.(3736-3738)TCT>TGT		transcription factor 20 isoform 1							121.0	112.0	115.0					22																	42607575		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42607575G>C	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3737C>G	22.37:g.42607575G>C	ENSP00000352463:p.Ser1246Cys					TCF20_uc003bck.1_Missense_Mutation_p.S1246C|TCF20_uc003bnt.2_Missense_Mutation_p.S1246C	p.S1246C	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	3871	-			1246					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.3737C>G	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897513	0.52121	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.60548	0.18;0.18	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000002	T	0.71082	0.3298	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	T	0.68420	-0.5413	10	0.45353	T	0.12	-16.8255	19.6556	0.95837	0.0:0.0:1.0:0.0	.	1246;1246	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	C	1246	ENSP00000352463:S1246C;ENSP00000335561:S1246C	ENSP00000335561:S1246C	S	-	2	0	TCF20	40937519	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.090000	0.64498	2.882000	0.98803	0.655000	0.94253	TCT		0.483	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1		NM_181492		21	60	0	0	0	0.00333	0	21	60		
CYB5R3	1727	broad.mit.edu	37	22	43032768	43032768	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:43032768G>A	ENST00000352397.5	-	2	358	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F	CYB5R3_ENST00000407623.3_Missense_Mutation_p.L13F|CYB5R3_ENST00000396303.3_Missense_Mutation_p.L13F|CYB5R3_ENST00000407332.1_Missense_Mutation_p.L13F|CYB5R3_ENST00000361740.4_Missense_Mutation_p.L69F|CYB5R3_ENST00000402438.1_Missense_Mutation_p.L13F	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	36					blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	GGGCTCTCGAGGGTGATGGCT	0.627																																						uc003bcz.2		NaN																	0				skin(1)	1						c.(106-108)CTC>TTC		cytochrome b5 reductase 3 isoform m	NADH(DB00157)						65.0	58.0	60.0					22																	43032768		2203	4300	6503	SO:0001583	missense	1727				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity	g.chr22:43032768G>A	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.106C>T	22.37:g.43032768G>A	ENSP00000338461:p.Leu36Phe					CYB5R3_uc010gzc.1_5'UTR|CYB5R3_uc003bcw.2_Missense_Mutation_p.L26F|CYB5R3_uc011aps.1_Missense_Mutation_p.L69F|CYB5R3_uc003bcy.2_Missense_Mutation_p.L13F|CYB5R3_uc003bcx.2_Missense_Mutation_p.L13F	p.L36F	NM_000398	NP_000389	P00387	NB5R3_HUMAN			2	190	-			36					B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	ENST00000352397.5	37	c.106C>T	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777052	0.49786	.	.	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438;ENST00000438270	D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	4.82	3.79	0.43588	Riboflavin synthase-like beta-barrel (1);	0.000000	0.64402	D	0.000001	D	0.89681	0.6785	M	0.63843	1.955	0.80722	D	1	D;P	0.89917	1.0;0.923	D;P	0.91635	0.999;0.735	D	0.89845	0.4005	10	0.87932	D	0	-37.466	10.4274	0.44387	0.0968:0.0:0.9032:0.0	.	69;36	B7Z7L3;P00387	.;NB5R3_HUMAN	F	69;13;36;13;13;13;13	ENSP00000354468:L69F;ENSP00000379597:L13F;ENSP00000338461:L36F;ENSP00000384834:L13F;ENSP00000384457:L13F;ENSP00000385679:L13F;ENSP00000403439:L13F	ENSP00000338461:L36F	L	-	1	0	CYB5R3	41362712	1.000000	0.71417	0.999000	0.59377	0.656000	0.38851	3.734000	0.55037	2.387000	0.81309	0.313000	0.20887	CTC		0.627	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1				33	28	0	0	0	0.003271	0	33	28		
TMEM40	55287	broad.mit.edu	37	3	12783978	12783978	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:12783978C>G	ENST00000314124.7	-	5	686	c.330G>C	c.(328-330)ttG>ttC	p.L110F	TMEM40_ENST00000431022.2_Missense_Mutation_p.L126F|TMEM40_ENST00000264728.8_Missense_Mutation_p.L110F|TMEM40_ENST00000435218.2_Missense_Mutation_p.L80F|TMEM40_ENST00000435575.1_Missense_Mutation_p.L34F|TMEM40_ENST00000476331.1_5'Flank	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	110						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						GCTCATCCTTCAAAACGTCAG	0.517																																						uc003bxg.1		NaN																	0					0						c.(328-330)TTG>TTC		transmembrane protein 40							130.0	126.0	127.0					3																	12783978		2203	4300	6503	SO:0001583	missense	55287					integral to membrane		g.chr3:12783978C>G	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.330G>C	3.37:g.12783978C>G	ENSP00000322837:p.Leu110Phe					TMEM40_uc003bxh.1_Missense_Mutation_p.L80F|TMEM40_uc003bxi.1_Missense_Mutation_p.L34F|TMEM40_uc011auv.1_Missense_Mutation_p.L126F	p.L110F	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN			5	457	-			110					C9JID5|Q8NAL4|Q9NUZ4	Missense_Mutation	SNP	ENST00000314124.7	37	c.330G>C	CCDS2613.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111049	0.37242	.	.	ENSG00000088726	ENST00000314124;ENST00000435575;ENST00000435218;ENST00000428020;ENST00000264728;ENST00000431022	.	.	.	4.62	-0.639	0.11497	.	0.904892	0.09109	N	0.847328	T	0.40322	0.1112	L	0.59436	1.845	0.09310	N	1	D;P;P;D	0.54207	0.965;0.545;0.874;0.965	P;B;P;P	0.51355	0.66;0.372;0.667;0.568	T	0.29488	-1.0010	9	0.62326	D	0.03	-6.183	4.773	0.13166	0.0:0.4892:0.1493:0.3615	.	126;34;80;110	B4DXI0;C9JID5;Q8WWA1-2;Q8WWA1	.;.;.;TMM40_HUMAN	F	110;34;80;13;110;126	.	ENSP00000264728:L110F	L	-	3	2	TMEM40	12758978	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.238000	0.02919	-0.393000	0.07739	-0.140000	0.14226	TTG		0.517	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2		NM_018306		74	98	0	0	0	0.00361	0	74	98		
GRIP2	80852	broad.mit.edu	37	3	14583429	14583429	+	RNA	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:14583429G>T	ENST00000273083.3	-	0	0							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGCTCGCCATGAAGACCCTGG	0.572																																						uc011avi.1		NaN																	0				pancreas(1)	1						c.(160-162)CAT>AAT		glutamate receptor interacting protein 2							29.0	34.0	33.0					3																	14583429		2028	4156	6184			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14583429G>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14583429G>T						GRIP2_uc011avh.1_5'Flank|GRIP2_uc003byv.1_5'Flank	p.H54N	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			1	160	-			Error:Variant_position_missing_in_Q9C0E4_after_alignment					Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.160C>A																																																																																					0.572	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2		NM_001080423		8	12	1	0	1.33987e-11	0.008291	1.40155e-11	8	12		
MRPS25	64432	broad.mit.edu	37	3	15094937	15094937	+	Missense_Mutation	SNP	C	C	G	rs199503149		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:15094937C>G	ENST00000253686.2	-	3	419	c.279G>C	c.(277-279)aaG>aaC	p.K93N	MRPS25_ENST00000449354.2_Missense_Mutation_p.K93N|MRPS25_ENST00000444840.2_Intron	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	93						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(1)	2						CCTTATTGCTCTTGGTCTCCA	0.488																																						uc003bzl.2		NaN																	0					0						c.(277-279)AAG>AAC		mitochondrial ribosomal protein S25							126.0	111.0	116.0					3																	15094937		2203	4300	6503	SO:0001583	missense	64432				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:15094937C>G	AB061208	CCDS2622.1	3p25	2012-09-13			ENSG00000131368	ENSG00000131368		"""Mitochondrial ribosomal proteins / small subunits"""	14511	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S25"""	611987				11279123	Standard	NM_022497		Approved	MRP-S25, FLJ00023, DKFZp313H0817, RPMS25	uc003bzl.3	P82663	OTTHUMG00000129836	ENST00000253686.2:c.279G>C	3.37:g.15094937C>G	ENSP00000253686:p.Lys93Asn					MRPS25_uc011avl.1_Intron|MRPS25_uc011avm.1_Missense_Mutation_p.K93N	p.K93N	NM_022497	NP_071942	P82663	RT25_HUMAN			3	394	-			93					B4DFJ5|B4DQG6|Q9H7P5	Missense_Mutation	SNP	ENST00000253686.2	37	c.279G>C	CCDS2622.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852755	0.71719	.	.	ENSG00000131368	ENST00000253686;ENST00000449354	.	.	.	6.08	2.39	0.29439	Ribosomal protein/NADH dehydrogenase domain (2);Thioredoxin-like fold (1);	0.091610	0.85682	D	0.000000	T	0.75817	0.3901	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.957	D;D	0.91635	0.999;0.938	T	0.74337	-0.3698	9	0.72032	D	0.01	-52.6458	9.177	0.37118	0.0:0.6577:0.0:0.3423	.	93;93	B4DFJ5;P82663	.;RT25_HUMAN	N	93	.	ENSP00000253686:K93N	K	-	3	2	MRPS25	15069941	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	1.428000	0.34892	0.169000	0.19679	-0.964000	0.02622	AAG		0.488	MRPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252076.2		NM_022497		18	58	0	0	0	0.00278	0	18	58		
MRPS25	64432	broad.mit.edu	37	3	15094945	15094945	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:15094945C>G	ENST00000253686.2	-	3	411	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	MRPS25_ENST00000449354.2_Missense_Mutation_p.E91Q|MRPS25_ENST00000444840.2_Intron	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	91						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(1)	2						CTCTTGGTCTCCACATCCACC	0.473																																						uc003bzl.2		NaN																	0					0						c.(271-273)GAG>CAG		mitochondrial ribosomal protein S25							122.0	109.0	113.0					3																	15094945		2203	4300	6503	SO:0001583	missense	64432				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:15094945C>G	AB061208	CCDS2622.1	3p25	2012-09-13			ENSG00000131368	ENSG00000131368		"""Mitochondrial ribosomal proteins / small subunits"""	14511	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S25"""	611987				11279123	Standard	NM_022497		Approved	MRP-S25, FLJ00023, DKFZp313H0817, RPMS25	uc003bzl.3	P82663	OTTHUMG00000129836	ENST00000253686.2:c.271G>C	3.37:g.15094945C>G	ENSP00000253686:p.Glu91Gln					MRPS25_uc011avl.1_Intron|MRPS25_uc011avm.1_Missense_Mutation_p.E91Q	p.E91Q	NM_022497	NP_071942	P82663	RT25_HUMAN			3	386	-			91					B4DFJ5|B4DQG6|Q9H7P5	Missense_Mutation	SNP	ENST00000253686.2	37	c.271G>C	CCDS2622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.0|29.0	4.970349|4.970349	0.92919|0.92919	.|.	.|.	ENSG00000131368|ENSG00000177463	ENST00000253686;ENST00000449354|ENST00000439011	.|D	.|0.95949	.|-3.86	6.07|6.07	5.19|5.19	0.71726|0.71726	Ribosomal protein/NADH dehydrogenase domain (2);Thioredoxin-like fold (1);|.	0.045758|.	0.85682|.	D|.	0.000000|.	D|D	0.96676|0.96676	0.8915|0.8915	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.997|.	D;D|.	0.71184|.	0.972;0.951|.	D|D	0.97042|0.97042	0.9758|0.9758	9|7	0.72032|0.87932	D|D	0.01|0	-54.1046|-54.1046	16.3016|16.3016	0.82820|0.82820	0.0:0.8671:0.1329:0.0|0.0:0.8671:0.1329:0.0	.|.	91;91|.	B4DFJ5;P82663|.	.;RT25_HUMAN|.	Q|C	91|179	.|ENSP00000412473:S179C	ENSP00000253686:E91Q|ENSP00000412473:S179C	E|S	-|+	1|2	0|0	MRPS25|NR2C2	15069949|15069949	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	7.432000|7.432000	0.80349|0.80349	1.555000|1.555000	0.49500|0.49500	0.655000|0.655000	0.94253|0.94253	GAG|TCC		0.473	MRPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252076.2		NM_022497		17	58	0	0	0	0.00278	0	17	58		
EFHB	151651	broad.mit.edu	37	3	19975088	19975088	+	Silent	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:19975088C>A	ENST00000295824.9	-	1	584	c.423G>T	c.(421-423)ggG>ggT	p.G141G	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	141							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTCTCCTGCTCCCTGCAGCCT	0.493																																						uc003cbl.3		NaN																	0					0						c.(421-423)GGG>GGT		EF hand domain family, member B							67.0	72.0	70.0					3																	19975088		2201	4297	6498	SO:0001819	synonymous_variant	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19975088C>A	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.423G>T	3.37:g.19975088C>A						EFHB_uc003cbm.2_Intron	p.G141G	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			1	619	-			141					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Silent	SNP	ENST00000295824.9	37	c.423G>T	CCDS33715.2																																																																																				0.493	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2		NM_144715		21	82	1	0	4.26978e-12	0.00333	4.48055e-12	21	82		
SCN5A	6331	broad.mit.edu	37	3	38622656	38622656	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:38622656C>G	ENST00000333535.4	-	17	3143	c.2994G>C	c.(2992-2994)caG>caC	p.Q998H	SCN5A_ENST00000451551.2_Missense_Mutation_p.Q998H|SCN5A_ENST00000449557.2_Missense_Mutation_p.Q998H|SCN5A_ENST00000443581.1_Missense_Mutation_p.Q998H|SCN5A_ENST00000425664.1_Missense_Mutation_p.Q998H|SCN5A_ENST00000450102.2_Missense_Mutation_p.Q998H|SCN5A_ENST00000423572.2_Missense_Mutation_p.Q998H|SCN5A_ENST00000414099.2_Missense_Mutation_p.Q998H|SCN5A_ENST00000413689.1_Missense_Mutation_p.Q998H|SCN5A_ENST00000455624.2_Missense_Mutation_p.Q998H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	998					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAGCTGGCCCTGGGCGGCAA	0.672																																						uc003cio.2		NaN																	0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(2992-2994)CAG>CAC		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						12.0	14.0	13.0					3																	38622656		1921	4114	6035	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38622656C>G	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2994G>C	3.37:g.38622656C>G	ENSP00000328968:p.Gln998His					SCN5A_uc003cin.2_Missense_Mutation_p.Q998H|SCN5A_uc003cil.3_Missense_Mutation_p.Q998H|SCN5A_uc010hhi.2_Missense_Mutation_p.Q998H|SCN5A_uc010hhk.2_Missense_Mutation_p.Q998H|SCN5A_uc011ayr.1_Missense_Mutation_p.Q998H|SCN5A_uc010hhj.1_Missense_Mutation_p.Q609H	p.Q998H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	17	3188	-	Medulloblastoma(35;0.163)		998					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2994G>C	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	5.306	0.241863	0.10077	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.38	-10.8	0.00216	Sodium ion transport-associated (1);	1.784500	0.02799	N	0.122942	T	0.63965	0.2556	N	0.05534	-0.03	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.0;0.001;0.0	T	0.56214	-0.8016	10	0.45353	T	0.12	.	3.556	0.07865	0.2967:0.4233:0.1:0.18	.	998;998;998;998;998;998;998	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	H	998	ENSP00000398962:Q998H;ENSP00000398266:Q998H;ENSP00000410257:Q998H;ENSP00000388797:Q998H;ENSP00000397915:Q998H;ENSP00000416634:Q998H;ENSP00000328968:Q998H;ENSP00000399524:Q998H;ENSP00000403355:Q998H;ENSP00000413996:Q998H	ENSP00000328968:Q998H	Q	-	3	2	SCN5A	38597660	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-2.264000	0.01173	-2.414000	0.00569	-0.305000	0.09177	CAG		0.672	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1		NM_198056		14	15	0	0	0	0.003163	0	14	15		
HHATL	57467	broad.mit.edu	37	3	42734575	42734575	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:42734575G>A	ENST00000441594.1	-	11	1645	c.1384C>T	c.(1384-1386)Ctc>Ttc	p.L462F	HHATL_ENST00000310417.5_Missense_Mutation_p.L462F	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	462					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TCACCTGTGAGTAGCAGGCGC	0.567																																						uc003clw.2		NaN																	0				ovary(3)	3						c.(1384-1386)CTC>TTC		hedgehog acyltransferase-like							131.0	124.0	126.0					3																	42734575		2203	4300	6503	SO:0001583	missense	57467				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		g.chr3:42734575G>A	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.1384C>T	3.37:g.42734575G>A	ENSP00000405423:p.Leu462Phe					HHATL_uc003clx.2_Missense_Mutation_p.L462F	p.L462F	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.215)	12	1531	-			462			Helical; (Potential).		Q8TBG3|Q9ULP7	Missense_Mutation	SNP	ENST00000441594.1	37	c.1384C>T	CCDS2704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.946|9.946	1.218942|1.218942	0.22373|0.22373	.|.	.|.	ENSG00000010282|ENSG00000010282	ENST00000310417;ENST00000441594|ENST00000426666	T;T|.	0.20069|.	2.1;2.1|.	3.69|3.69	2.79|2.79	0.32731|0.32731	.|.	0.379430|.	0.26279|.	U|.	0.025283|.	T|T	0.38374|0.38374	0.1038|0.1038	N|N	0.20685|0.20685	0.6|0.6	0.47621|0.47621	D|D	0.999479|0.999479	B|.	0.12630|.	0.006|.	B|.	0.08055|.	0.003|.	T|T	0.11179|0.11179	-1.0598|-1.0598	10|5	0.10377|.	T|.	0.69|.	-14.8899|-14.8899	7.0726|7.0726	0.25187|0.25187	0.1056:0.1867:0.7077:0.0|0.1056:0.1867:0.7077:0.0	.|.	462|.	Q9HCP6|.	HHATL_HUMAN|.	F|I	462|81	ENSP00000310621:L462F;ENSP00000405423:L462F|.	ENSP00000310621:L462F|.	L|T	-|-	1|2	0|0	HHATL|HHATL	42709579|42709579	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.579000|0.579000	0.36224|0.36224	3.556000|3.556000	0.53734|0.53734	1.633000|1.633000	0.50488|0.50488	0.291000|0.291000	0.19559|0.19559	CTC|ACT		0.567	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1		NM_020707		4	264	0	0	0	0.009096	0	4	264		
BSN	8927	broad.mit.edu	37	3	49698105	49698105	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:49698105G>A	ENST00000296452.4	+	6	8941	c.8827G>A	c.(8827-8829)Gag>Aag	p.E2943K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2943					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)		CCTGCTCCGGGAGCTGGACCG	0.657																																						uc003cxe.3		NaN																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(8827-8829)GAG>AAG		bassoon protein							24.0	25.0	25.0					3																	49698105		2200	4295	6495	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49698105G>A	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.8827G>A	3.37:g.49698105G>A	ENSP00000296452:p.Glu2943Lys						p.E2943K	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	8941	+			2943			Potential.		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.8827G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725095	0.48833	.	.	ENSG00000164061	ENST00000296452	T	0.21932	1.98	4.5	4.5	0.54988	.	0.211356	0.40640	N	0.001059	T	0.23249	0.0562	L	0.43152	1.355	0.48511	D	0.99966	D	0.57257	0.979	P	0.47528	0.549	T	0.01444	-1.1353	10	0.62326	D	0.03	-17.0885	10.8324	0.46667	0.0875:0.0:0.9125:0.0	.	2943	Q9UPA5	BSN_HUMAN	K	2943	ENSP00000296452:E2943K	ENSP00000296452:E2943K	E	+	1	0	BSN	49673109	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.543000	0.82106	2.043000	0.60533	0.561000	0.74099	GAG		0.657	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1		NM_003458		7	22	0	0	0	0.008291	0	7	22		
UBA7	7318	broad.mit.edu	37	3	49842359	49842359	+	IGR	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:49842359C>A	ENST00000333486.3	-	0	3299				FAM212A_ENST00000333323.4_Missense_Mutation_p.A268E|MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCACGCTTTGCAGCTCTCATG	0.597																																						uc003cxq.1		NaN																	0					0						c.(802-804)GCA>GAA		hypothetical protein LOC389119							100.0	112.0	108.0					3																	49842359		2203	4299	6502	SO:0001628	intergenic_variant	389119							g.chr3:49842359C>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49842359C>A							p.A268E	NM_203370	NP_976248	Q96EL1	CC054_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.55e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	936	+			266					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.803C>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319427	0.81469	.	.	ENSG00000185614	ENST00000333323	.	.	.	5.7	5.7	0.88788	.	0.000000	0.46758	D	0.000264	T	0.75860	0.3907	L	0.50333	1.59	0.58432	D	0.999994	D	0.89917	1.0	D	0.71870	0.975	T	0.76661	-0.2877	9	0.72032	D	0.01	.	19.4443	0.94840	0.0:1.0:0.0:0.0	.	266	Q96EL1	CC054_HUMAN	E	268	.	ENSP00000329735:A268E	A	+	2	0	C3orf54	49817363	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	4.400000	0.59709	2.700000	0.92200	0.563000	0.77884	GCA		0.597	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1		NM_003335		70	216	1	0	1.23719e-20	0.00361	1.33658e-20	70	216		
LSMEM2	132228	broad.mit.edu	37	3	50314055	50314055	+	5'Flank	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:50314055C>T	ENST00000316436.3	+	0	0				SEMA3B_ENST00000418948.1_RNA	NM_153215.1	NP_694947.1	Q8N112	LSME2_HUMAN	leucine-rich single-pass membrane protein 2							integral component of membrane (GO:0016021)											CCCCTGGAGTCGCGGAGAAAG	0.721																																						uc003cyu.2		NaN																	0				lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6						c.(2167-2169)TCG>TTG		semaphorin 3B isoform 1 precursor							9.0	12.0	11.0					3																	50314055		2066	4169	6235	SO:0001631	upstream_gene_variant	7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50314055C>T	AK095927	CCDS2814.1	3p21.31	2013-03-08	2013-03-08	2013-03-08	ENSG00000179564	ENSG00000179564			26781	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 45"""	C3orf45			Standard	NM_153215		Approved	FLJ38608	uc003cyz.3	Q8N112	OTTHUMG00000156938		3.37:g.50314055C>T	Exception_encountered					SEMA3B_uc003cyt.2_Missense_Mutation_p.S722L|SEMA3B_uc003cyv.2_Missense_Mutation_p.S610L|SEMA3B_uc003cyw.2_Missense_Mutation_p.S446L|SEMA3B_uc010hli.2_Missense_Mutation_p.S615L|SEMA3B_uc003cyx.2_Missense_Mutation_p.S609L|SEMA3B_uc003cyy.2_Missense_Mutation_p.S380L|SEMA3B_uc011bdo.1_Missense_Mutation_p.S380L|C3orf45_uc003cyz.2_5'Flank	p.S723L	NM_004636	NP_004627	Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	19	2410	+			723						Missense_Mutation	SNP	ENST00000316436.3	37	c.2168C>T	CCDS2814.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967692	0.34754	.	.	ENSG00000012171	ENST00000316347	.	.	.	4.6	2.67	0.31697	.	2.559900	0.01623	N	0.023139	T	0.30262	0.0759	.	.	.	.	.	.	B;B;B;B	0.12630	0.001;0.006;0.001;0.001	B;B;B;B	0.08055	0.001;0.003;0.001;0.001	T	0.15521	-1.0434	7	0.31617	T	0.26	.	6.2133	0.20642	0.1827:0.7134:0.0:0.1039	.	722;472;722;723	Q13214-2;Q59FY7;F5H2H7;Q13214	.;.;.;SEM3B_HUMAN	L	722	.	ENSP00000446262:S722L	S	+	2	0	SEMA3B	50289059	0.000000	0.05858	0.011000	0.14972	0.234000	0.25298	0.060000	0.14342	1.046000	0.40249	0.655000	0.94253	TCG		0.721	LSMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346671.1		NM_153215		14	8	0	0	0	0.00499	0	14	8		
ACY1	95	broad.mit.edu	37	3	52019910	52019910	+	Missense_Mutation	SNP	G	G	C	rs201048015		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:52019910G>C	ENST00000404366.2	+	5	453	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.E204Q|ACY1_ENST00000468068.1_3'UTR|ABHD14B_ENST00000483233.1_5'Flank|ACY1_ENST00000476854.1_Missense_Mutation_p.E103Q|ACY1_ENST00000476351.1_Missense_Mutation_p.E68Q|ACY1_ENST00000458031.2_Missense_Mutation_p.E193Q|ACY1_ENST00000494103.1_Missense_Mutation_p.E103Q	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	103					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	CAAGGATTCTGAGGGCTACAT	0.552																																						uc003dcp.2		NaN																	0				breast(1)|skin(1)	2						c.(307-309)GAG>CAG		aminoacylase 1	L-Aspartic Acid(DB00128)						100.0	76.0	84.0					3																	52019910		2203	4300	6503	SO:0001583	missense	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52019910G>C	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.307G>C	3.37:g.52019910G>C	ENSP00000384296:p.Glu103Gln					ABHD14B_uc003dcn.2_5'Flank|ACY1_uc011bea.1_Missense_Mutation_p.E193Q|ACY1_uc011beb.1_Missense_Mutation_p.E103Q|ACY1_uc003dcq.2_Missense_Mutation_p.E103Q	p.E103Q	NM_000666	NP_000657	Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	368	+			103					C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	ENST00000404366.2	37	c.307G>C	CCDS2844.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.370147	0.42003	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366;ENST00000469863	D;D;D;D;T;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;3.06;-1.68;-1.68	4.97	3.12	0.35913	.	0.455522	0.24176	N	0.040849	T	0.72195	0.3430	L	0.31664	0.95	0.30837	N	0.736046	B;B;B	0.14805	0.002;0.011;0.002	B;B;B	0.14578	0.006;0.011;0.006	T	0.67309	-0.5703	10	0.33141	T	0.24	-10.1328	10.939	0.47262	0.0898:0.1858:0.7244:0.0	.	103;193;103	B4DPC3;B4DNW0;Q03154	.;.;ACY1_HUMAN	Q	193;204;103;103;68;103;103;112	ENSP00000390557:E193Q;ENSP00000420487:E204Q;ENSP00000419262:E103Q;ENSP00000417056:E68Q;ENSP00000417618:E103Q;ENSP00000384296:E103Q;ENSP00000419830:E112Q	ENSP00000384296:E103Q	E	+	1	0	ACY1;RP11-155D18.11	51994950	0.999000	0.42202	0.944000	0.38274	0.998000	0.95712	2.832000	0.48152	1.092000	0.41356	0.558000	0.71614	GAG		0.552	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1		NM_000666		9	19	0	0	0	0.010729	0	9	19		
ACTR8	93973	broad.mit.edu	37	3	53905383	53905383	+	Silent	SNP	C	C	A	rs201085829		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:53905383C>A	ENST00000335754.3	-	11	1543	c.1443G>T	c.(1441-1443)ctG>ctT	p.L481L	ACTR8_ENST00000488802.1_5'Flank|ACTR8_ENST00000482349.1_Silent_p.L370L|ACTR8_ENST00000231909.7_Silent_p.L186L	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	481					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGCCGGCCATCAGGCCATCTC	0.547																																						uc003dhd.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1441-1443)CTG>CTT		actin-related protein 8		C		1,4405	2.1+/-5.4	0,1,2202	111.0	111.0	111.0		1443	4.1	1.0	3		111	0,8600		0,0,4300	no	coding-synonymous	ACTR8	NM_022899.4		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		481/625	53905383	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53905383C>A		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1443G>T	3.37:g.53905383C>A						ACTR8_uc003dhb.2_Silent_p.L186L|ACTR8_uc003dhc.2_Silent_p.L370L	p.L481L	NM_022899	NP_075050	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	11	1502	-			481					B3KSW7|Q8N566|Q9H663	Silent	SNP	ENST00000335754.3	37	c.1443G>T	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	C	8.922	0.961253	0.18583	2.27E-4	0.0	ENSG00000113812	ENST00000486794	.	.	.	5.93	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1351	10.3702	0.44049	0.0:0.5873:0.3411:0.0716	.	.	.	.	L	235	.	.	X	-	2	2	ACTR8	53880423	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.036000	0.30228	0.807000	0.34208	0.655000	0.94253	TGA		0.547	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2		NM_022899		87	78	1	0	2.65435e-51	0.00361	2.92023e-51	87	78		
FAM3D	131177	broad.mit.edu	37	3	58631354	58631354	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:58631354C>G	ENST00000358781.2	-	5	456		c.e5-1			NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D						negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		TTTTTAACCTCTGGGGAGGAA	0.587																																						uc003dkq.2		NaN																	0					0						c.e5-1		family with sequence similarity 3, member D							57.0	57.0	57.0					3																	58631354		2203	4300	6503	SO:0001630	splice_region_variant	131177				negative regulation of insulin secretion	extracellular region	cytokine activity	g.chr3:58631354C>G	AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.146-1G>C	3.37:g.58631354C>G							p.Q49_splice	NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)	5	443	-								Q547G2	Splice_Site	SNP	ENST00000358781.2	37	c.146_splice	CCDS2893.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506191	0.44558	.	.	ENSG00000198643	ENST00000358781;ENST00000483787;ENST00000489857;ENST00000498347	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3412	0.83082	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM3D	58606394	0.996000	0.38824	0.640000	0.29408	0.011000	0.07611	3.693000	0.54735	2.507000	0.84556	0.591000	0.81541	.		0.587	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353494.1		NM_138805	Intron	57	34	0	0	0	0.00361	0	57	34		
SHQ1	55164	broad.mit.edu	37	3	72890342	72890342	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:72890342C>G	ENST00000325599.8	-	4	479	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	SHQ1_ENST00000463369.1_Missense_Mutation_p.E86Q	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	114					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TCAGGAATCTCAGAAGCACCT	0.373																																						uc003dpf.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(340-342)GAG>CAG		SHQ1 homolog							68.0	62.0	64.0					3																	72890342		2203	4300	6503	SO:0001583	missense	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72890342C>G	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.340G>C	3.37:g.72890342C>G	ENSP00000315182:p.Glu114Gln					SHQ1_uc010hod.2_Missense_Mutation_p.E25Q	p.E114Q	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	4	447	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	114					B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	c.340G>C	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	6.752	0.507677	0.12883	.	.	ENSG00000144736	ENST00000325599;ENST00000463369;ENST00000482785	T;T;T	0.46063	1.45;1.42;0.88	4.99	4.11	0.48088	.	0.418684	0.25291	N	0.031723	T	0.46328	0.1387	L	0.39898	1.24	0.29268	N	0.870886	D	0.71674	0.998	P	0.59115	0.852	T	0.36138	-0.9760	10	0.14252	T	0.57	0.0	12.4734	0.55799	0.0:0.9159:0.0:0.0841	.	114	Q6PI26	SHQ1_HUMAN	Q	114;86;25	ENSP00000315182:E114Q;ENSP00000417452:E86Q;ENSP00000418398:E25Q	ENSP00000315182:E114Q	E	-	1	0	SHQ1	72973032	0.966000	0.33281	0.991000	0.47740	0.556000	0.35491	3.381000	0.52455	1.218000	0.43458	0.484000	0.47621	GAG		0.373	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1		NM_018130		13	21	0	0	0	0.001368	0	13	21		
CNTN3	5067	broad.mit.edu	37	3	74344388	74344388	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:74344388C>G	ENST00000263665.6	-	18	2429		c.e18-1			NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)						cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACTGTAGGCTCTGTTCGGAAA	0.353																																						uc003dpm.1		NaN																	0				breast(3)|ovary(1)|skin(1)	5						c.e18-1		contactin 3 precursor							73.0	70.0	71.0					3																	74344388		2203	4300	6503	SO:0001630	splice_region_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74344388C>G	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2402-1G>C	3.37:g.74344388C>G							p.E801_splice	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	18	2482	-		Lung NSC(201;0.138)|Lung SC(41;0.21)						B9EK50|Q9H039	Splice_Site	SNP	ENST00000263665.6	37	c.2402_splice	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428072	0.83667	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4831	0.95018	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNTN3	74427078	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	7.017000	0.76399	2.597000	0.87782	0.650000	0.86243	.		0.353	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1		NM_020872	Intron	37	23	0	0	0	0.006999	0	37	23		
ST3GAL6	10402	broad.mit.edu	37	3	98510824	98510824	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:98510824C>T	ENST00000483910.1	+	9	1185	c.896C>T	c.(895-897)tCt>tTt	p.S299F	ST3GAL6_ENST00000394162.1_Missense_Mutation_p.S299F|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000265261.6_Missense_Mutation_p.S181F	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	299					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GCCACCATGTCTTTGATGAAT	0.373																																						uc003dsz.2		NaN																	0				ovary(1)	1						c.(895-897)TCT>TTT		alpha2,3-sialyltransferase VI							134.0	129.0	131.0					3																	98510824		2203	4300	6503	SO:0001583	missense	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98510824C>T	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.896C>T	3.37:g.98510824C>T	ENSP00000417376:p.Ser299Phe					ST3GAL6_uc003dsy.2_Missense_Mutation_p.S213F|ST3GAL6_uc003dta.2_Missense_Mutation_p.S181F|ST3GAL6_uc003dtb.2_Missense_Mutation_p.S155F|ST3GAL6_uc003dtc.2_Missense_Mutation_p.S299F|ST3GAL6_uc010hpd.2_Missense_Mutation_p.S352F	p.S299F	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN			9	1132	+			299			Lumenal (Potential).		B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	c.896C>T	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741532	0.49151	.	.	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000394162	T;T;T	0.32272	1.46;1.46;1.46	5.56	4.68	0.58851	.	0.084769	0.50627	D	0.000106	T	0.24431	0.0592	L	0.35542	1.07	0.48040	D	0.999578	B;B	0.27853	0.037;0.191	B;B	0.26202	0.067;0.059	T	0.05500	-1.0881	10	0.54805	T	0.06	16.9432	12.5645	0.56301	0.0:0.9171:0.0:0.0829	.	181;299	F8W6U0;Q9Y274	.;SIA10_HUMAN	F	299;181;299	ENSP00000417376:S299F;ENSP00000265261:S181F;ENSP00000377717:S299F	ENSP00000265261:S181F	S	+	2	0	ST3GAL6	99993514	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.680000	0.54641	2.614000	0.88457	0.655000	0.94253	TCT		0.373	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2		NM_006100		23	53	0	0	0	0.009535	0	23	53		
IMPG2	50939	broad.mit.edu	37	3	101038512	101038512	+	Silent	SNP	G	G	A	rs375330175		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:101038512G>A	ENST00000193391.7	-	2	437	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	84					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TTAGGAAACAGAATAGATCTC	0.428																																						uc003duq.1		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(250-252)CTG>TTG		interphotoreceptor matrix proteoglycan 2							156.0	153.0	154.0					3																	101038512		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:101038512G>A	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.250C>T	3.37:g.101038512G>A						IMPG2_uc011bhe.1_5'UTR	p.L84L	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			2	453	-			84			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.250C>T	CCDS2940.1																																																																																				0.428	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3				27	85	0	0	0	0.00632	0	27	85		
CBLB	868	broad.mit.edu	37	3	105421029	105421029	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:105421029G>C	ENST00000264122.4	-	12	2189	c.1868C>G	c.(1867-1869)tCa>tGa	p.S623*	CBLB_ENST00000405772.1_Nonsense_Mutation_p.S623*|CBLB_ENST00000394027.3_Nonsense_Mutation_p.S645*|CBLB_ENST00000403724.1_Nonsense_Mutation_p.S623*	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	623	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ATTGACATTTGAACTCGCTGT	0.502			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.2		NaN		Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(1867-1869)TCA>TGA		Cas-Br-M (murine) ecotropic retroviral							129.0	127.0	128.0					3																	105421029		2203	4300	6503	SO:0001587	stop_gained	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105421029G>C	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1868C>G	3.37:g.105421029G>C	ENSP00000264122:p.Ser623*					CBLB_uc011bhi.1_Nonsense_Mutation_p.S645*|CBLB_uc003dwd.1_Nonsense_Mutation_p.S623*|CBLB_uc003dwe.1_Nonsense_Mutation_p.S623*	p.S623*	NM_170662	NP_733762	Q13191	CBLB_HUMAN			12	2190	-			623			Pro-rich.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Nonsense_Mutation	SNP	ENST00000264122.4	37	c.1868C>G	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	G	41	8.992041	0.99029	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	.	.	.	5.67	5.67	0.87782	.	0.466770	0.22152	N	0.063905	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.6088	17.9312	0.88998	0.0:0.0:1.0:0.0	.	.	.	.	X	6;623;645;623;623	.	ENSP00000264122:S623X	S	-	2	0	CBLB	106903719	0.998000	0.40836	0.706000	0.30403	0.462000	0.32619	4.995000	0.63908	2.663000	0.90544	0.536000	0.68110	TCA		0.502	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2		NM_170662		21	51	0	0	0	0.010504	0	21	51		
CCDC80	151887	broad.mit.edu	37	3	112358139	112358139	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:112358139C>T	ENST00000206423.3	-	2	1567	c.614G>A	c.(613-615)aGc>aAc	p.S205N	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.S205N	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	205					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.S205N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTGGCCCTCGCTGGTGATCCT	0.577																																						uc003dzf.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(613-615)AGC>AAC		steroid-sensitive protein 1 precursor							101.0	86.0	91.0					3																	112358139		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112358139C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.614G>A	3.37:g.112358139C>T	ENSP00000206423:p.Ser205Asn					CCDC80_uc011bhv.1_Missense_Mutation_p.S205N|CCDC80_uc003dzg.2_Missense_Mutation_p.S205N|CCDC80_uc003dzh.1_Missense_Mutation_p.S205N	p.S205N	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			2	832	-			205					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.614G>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	7.352	0.623077	0.14193	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.40225	1.04;1.04	5.55	1.11	0.20524	.	0.267246	0.42172	N	0.000752	T	0.14056	0.0340	N	0.02011	-0.69	0.21627	N	0.999611	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.002	T	0.20371	-1.0277	10	0.25106	T	0.35	-11.3913	6.0833	0.19952	0.0:0.3512:0.3235:0.3253	.	216;205;205	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	N	205	ENSP00000206423:S205N;ENSP00000411814:S205N	ENSP00000206423:S205N	S	-	2	0	CCDC80	113840829	0.063000	0.20901	0.906000	0.35671	0.927000	0.56198	0.332000	0.19751	0.282000	0.22254	0.650000	0.86243	AGC		0.577	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1		NM_199511		59	61	0	0	0	0.00361	0	59	61		
IQCB1	9657	broad.mit.edu	37	3	121509013	121509013	+	Nonsense_Mutation	SNP	C	C	A	rs387907009		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:121509013C>A	ENST00000310864.6	-	11	1250	c.1036G>T	c.(1036-1038)Gag>Tag	p.E346*	IQCB1_ENST00000349820.6_Nonsense_Mutation_p.E213*	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	346					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TTGAGGTCCTCTTCTTCCTTC	0.383																																						uc010hre.1		NaN																	0					0						c.(1036-1038)GAG>TAG		IQ motif containing B1 isoform a							250.0	235.0	240.0					3																	121509013		2203	4300	6503	SO:0001587	stop_gained	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121509013C>A	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1036G>T	3.37:g.121509013C>A	ENSP00000311505:p.Glu346*					IQCB1_uc003eek.2_Nonsense_Mutation_p.E213*|IQCB1_uc010hrf.1_RNA	p.E346*	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	11	1251	-			346			Potential.		Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Nonsense_Mutation	SNP	ENST00000310864.6	37	c.1036G>T	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821183	0.90873	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	.	.	.	5.02	2.25	0.28309	.	0.196128	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-4.854	8.3561	0.32331	0.0:0.7318:0.0:0.2682	.	.	.	.	X	346;213	.	ENSP00000311505:E346X	E	-	1	0	IQCB1	122991703	1.000000	0.71417	0.820000	0.32676	0.732000	0.41865	1.576000	0.36504	0.806000	0.34183	0.650000	0.86243	GAG		0.383	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1		NM_014642		34	104	1	0	6.02501e-08	0.00623	6.21359e-08	34	104		
SLC15A2	6565	broad.mit.edu	37	3	121642098	121642098	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:121642098G>A	ENST00000489711.1	+	11	1375	c.987G>A	c.(985-987)agG>agA	p.R329R	SLC15A2_ENST00000295605.2_Silent_p.R298R|AC072031.1_ENST00000581491.1_RNA	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	329					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AAGCCATCAGGATGAATAGGA	0.403																																						uc003eep.2		NaN																	0				skin(1)	1						c.(985-987)AGG>AGA		peptide transporter 2 isoform a	Cefadroxil(DB01140)						127.0	123.0	124.0					3																	121642098		2203	4300	6503	SO:0001819	synonymous_variant	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121642098G>A	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.987G>A	3.37:g.121642098G>A						SLC15A2_uc011bjn.1_Silent_p.R298R	p.R329R	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	11	1140	+			329					A8K1A5|B4E2A7	Silent	SNP	ENST00000489711.1	37	c.987G>A	CCDS3007.1																																																																																				0.403	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1		NM_021082		18	63	0	0	0	0.008871	0	18	63		
ZNF148	7707	broad.mit.edu	37	3	124952313	124952313	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:124952313C>A	ENST00000360647.4	-	9	1742	c.1257G>T	c.(1255-1257)gaG>gaT	p.E419D	ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Missense_Mutation_p.E419D|ZNF148_ENST00000485866.1_Missense_Mutation_p.E419D|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.E419D|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	419					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						AAACTTTGCTCTCTTCATATG	0.373																																						uc003ehx.3		NaN																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(1255-1257)GAG>GAT		zinc finger protein 148							95.0	92.0	93.0					3																	124952313		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124952313C>A	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1257G>T	3.37:g.124952313C>A	ENSP00000353863:p.Glu419Asp					SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.E419D|ZNF148_uc010hsa.2_Missense_Mutation_p.E419D|ZNF148_uc003eia.3_Missense_Mutation_p.E419D|ZNF148_uc003ehy.2_Intron	p.E419D	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN			9	1743	-			419					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.1257G>T	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	3.222	-0.159235	0.06544	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	6.17	-1.17	0.09648	.	0.325406	0.36409	N	0.002615	T	0.22704	0.0548	N	0.17082	0.46	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05616	-1.0874	10	0.15499	T	0.54	-2.7305	6.1935	0.20538	0.1785:0.1866:0.5558:0.079	.	419	Q9UQR1	ZN148_HUMAN	D	419	ENSP00000353863:E419D;ENSP00000420335:E419D;ENSP00000419322:E419D;ENSP00000420448:E419D	ENSP00000353863:E419D	E	-	3	2	ZNF148	126435003	0.173000	0.23056	0.999000	0.59377	0.963000	0.63663	-0.485000	0.06520	0.076000	0.16826	-0.345000	0.07892	GAG		0.373	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4		NM_021964		13	49	1	0	4.36969e-10	0.001855	4.53484e-10	13	49		
COL6A6	131873	broad.mit.edu	37	3	130292929	130292929	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:130292929G>A	ENST00000358511.6	+	7	3138	c.3107G>A	c.(3106-3108)aGa>aAa	p.R1036K	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1036K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1036	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGCCTCAACAGAGTGCGAATA	0.418																																						uc010htl.2		NaN																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(3106-3108)AGA>AAA		collagen type VI alpha 6 precursor							67.0	62.0	64.0					3																	130292929		1867	4099	5966	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130292929G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3107G>A	3.37:g.130292929G>A	ENSP00000351310:p.Arg1036Lys						p.R1036K	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			7	3138	+			1036			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.3107G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	5.333	0.246754	0.10130	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.77229	-1.08;-1.08	5.15	3.28	0.37604	von Willebrand factor, type A (3);	0.198656	0.34025	N	0.004323	T	0.48040	0.1478	N	0.05619	-0.005	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.39623	-0.9605	10	0.02654	T	1	.	3.4934	0.07646	0.2438:0.2273:0.5289:0.0	.	1036	A6NMZ7	CO6A6_HUMAN	K	1036	ENSP00000351310:R1036K;ENSP00000399236:R1036K	ENSP00000351310:R1036K	R	+	2	0	COL6A6	131775619	0.020000	0.18652	0.666000	0.29783	0.231000	0.25187	1.639000	0.37176	1.262000	0.44165	0.561000	0.74099	AGA		0.418	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608		3	12	0	0	0	0.004672	0	3	12		
SLCO2A1	6578	broad.mit.edu	37	3	133670119	133670119	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:133670119G>A	ENST00000310926.4	-	6	1067	c.794C>T	c.(793-795)tCa>tTa	p.S265L	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.S189L	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	265					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CAATAAAGCTGAAGAAATGAG	0.493																																						uc003eqa.3		NaN																	0				central_nervous_system(1)	1						c.(793-795)TCA>TTA		solute carrier organic anion transporter family,							87.0	91.0	89.0					3																	133670119		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133670119G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.794C>T	3.37:g.133670119G>A	ENSP00000311291:p.Ser265Leu					SLCO2A1_uc003eqb.3_Missense_Mutation_p.S189L|SLCO2A1_uc011blv.1_Intron|SLCO2A1_uc010htw.1_Missense_Mutation_p.S97L	p.S265L	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			6	1068	-			265			Helical; Name=6; (Potential).		Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.794C>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298300	0.60195	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.48201	0.82;0.82	4.79	4.79	0.61399	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.126996	0.53938	D	0.000048	T	0.66906	0.2837	M	0.82323	2.585	0.80722	D	1	P;D;P	0.57571	0.95;0.98;0.878	P;P;P	0.55577	0.72;0.779;0.688	T	0.74535	-0.3633	10	0.72032	D	0.01	.	17.826	0.88665	0.0:0.0:1.0:0.0	.	265;189;265	F8W9W8;E7EU40;Q92959	.;.;SO2A1_HUMAN	L	265;189	ENSP00000311291:S265L;ENSP00000418893:S189L	ENSP00000311291:S265L	S	-	2	0	SLCO2A1	135152809	1.000000	0.71417	0.897000	0.35233	0.387000	0.30353	9.458000	0.97634	2.203000	0.70933	0.514000	0.50259	TCA		0.493	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1		NM_005630		33	33	0	0	0	0.012213	0	33	33		
PPP2R3A	5523	broad.mit.edu	37	3	135820922	135820922	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:135820922T>C	ENST00000264977.3	+	11	3618	c.3001T>C	c.(3001-3003)Tat>Cat	p.Y1001H	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.Y380H|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.Y265H	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1001	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAGTACTTCTATGAGGAGCA	0.468																																						uc003eqv.1		NaN																	0				ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(3001-3003)TAT>CAT		protein phosphatase 2, regulatory subunit B'',							206.0	174.0	185.0					3																	135820922		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135820922T>C	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.3001T>C	3.37:g.135820922T>C	ENSP00000264977:p.Tyr1001His					PPP2R3A_uc011blz.1_Missense_Mutation_p.Y265H|PPP2R3A_uc003eqw.1_Missense_Mutation_p.Y380H	p.Y1001H	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			11	3566	+			1001			EF-hand 2.		A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.3001T>C	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.705395	0.89018	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.73363	-0.74;-0.74;-0.74	5.34	5.34	0.76211	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89539	0.6744	H	0.94264	3.515	0.80722	D	1	D;D	0.76494	0.999;0.988	D;D	0.74348	0.944;0.983	D	0.92397	0.5926	10	0.87932	D	0	.	14.7926	0.69854	0.0:0.0:0.0:1.0	.	380;1001	Q06190-2;Q06190	.;P2R3A_HUMAN	H	1001;265;380	ENSP00000264977:Y1001H;ENSP00000419344:Y265H;ENSP00000334748:Y380H	ENSP00000264977:Y1001H	Y	+	1	0	PPP2R3A	137303612	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.997000	0.88414	2.131000	0.65755	0.460000	0.39030	TAT		0.468	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1		NM_002718		22	29	0	0	0	0.00333	0	22	29		
PAQR9	344838	broad.mit.edu	37	3	142682017	142682017	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:142682017G>A	ENST00000340634.3	-	1	161	c.162C>T	c.(160-162)ttC>ttT	p.F54F	RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	54						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						AGCACTCCACGAAGTCGTCGG	0.687																																						uc003evg.2		NaN																	0					0						c.(160-162)TTC>TTT		progestin and adipoQ receptor family member IX							31.0	30.0	31.0					3																	142682017		2200	4298	6498	SO:0001819	synonymous_variant	344838					integral to membrane	receptor activity	g.chr3:142682017G>A	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.162C>T	3.37:g.142682017G>A						PAQR9_uc003evf.1_5'Flank	p.F54F	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN			1	162	-			54			Cytoplasmic (Potential).		Q147T6	Silent	SNP	ENST00000340634.3	37	c.162C>T	CCDS3128.1																																																																																				0.687	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1		NM_198504		7	5	0	0	0	0.00308	0	7	5		
TM4SF4	7104	broad.mit.edu	37	3	149220466	149220466	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:149220466G>C	ENST00000305354.4	+	5	1499	c.595G>C	c.(595-597)Gat>Cat	p.D199H		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	199					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CTTCTAGGGAGATGGACCCGT	0.403																																						uc003exd.1		NaN																	0					0						c.(595-597)GAT>CAT		transmembrane 4 superfamily member 4							177.0	181.0	180.0					3																	149220466		1920	4124	6044	SO:0001583	missense	7104					integral to membrane		g.chr3:149220466G>C		CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"""transmembrane 4 superfamily member 4"""			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.595G>C	3.37:g.149220466G>C	ENSP00000305852:p.Asp199His						p.D199H	NM_004617	NP_004608	P48230	T4S4_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	826	+			199			Cytoplasmic (Potential).		B2RDA4	Missense_Mutation	SNP	ENST00000305354.4	37	c.595G>C	CCDS46932.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.916074	0.33815	.	.	ENSG00000169903	ENST00000305354	T	0.35236	1.32	3.86	1.06	0.20224	.	.	.	.	.	T	0.21801	0.0525	L	0.31294	0.92	0.40956	D	0.984587	B	0.34015	0.435	B	0.31337	0.128	T	0.07328	-1.0778	9	0.87932	D	0	-4.9515	4.6802	0.12731	0.1926:0.0:0.6344:0.1729	.	199	P48230	T4S4_HUMAN	H	199	ENSP00000305852:D199H	ENSP00000305852:D199H	D	+	1	0	TM4SF4	150703156	0.926000	0.31397	0.958000	0.39756	0.797000	0.45037	0.843000	0.27640	0.217000	0.20800	0.655000	0.94253	GAT		0.403	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1				63	42	0	0	0	0.00361	0	63	42		
SI	6476	broad.mit.edu	37	3	164733762	164733762	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:164733762C>T	ENST00000264382.3	-	32	3928	c.3866G>A	c.(3865-3867)gGa>gAa	p.G1289E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1289	Sucrase.				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)	GTATCTCATTCCTTCTCCTCT	0.403										HNSCC(35;0.089)																												uc003fei.2		NaN																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3865-3867)GGA>GAA		sucrase-isomaltase	Acarbose(DB00284)						169.0	177.0	174.0					3																	164733762		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.chr3:164733762C>T	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.3866G>A	3.37:g.164733762C>T	ENSP00000264382:p.Gly1289Glu	HNSCC(35;0.089)					p.G1289E	NM_001041	NP_001032	P14410	SUIS_HUMAN			32	3928	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1289			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3866G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333288	0.81801	.	.	ENSG00000090402	ENST00000264382	D	0.97404	-4.37	4.85	4.85	0.62838	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98767	0.9585	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99727	1.1011	10	0.87932	D	0	.	18.1574	0.89696	0.0:1.0:0.0:0.0	.	1289	P14410	SUIS_HUMAN	E	1289	ENSP00000264382:G1289E	ENSP00000264382:G1289E	G	-	2	0	SI	166216456	1.000000	0.71417	0.980000	0.43619	0.763000	0.43281	7.106000	0.77039	2.515000	0.84797	0.591000	0.81541	GGA		0.403	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1		NM_001041		17	69	0	0	0	0.010504	0	17	69		
MECOM	2122	broad.mit.edu	37	3	168834306	168834306	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:168834306C>A	ENST00000464456.1	-	7	1990	c.790G>T	c.(790-792)Gat>Tat	p.D264Y	MECOM_ENST00000468789.1_Missense_Mutation_p.D264Y|MECOM_ENST00000494292.1_Missense_Mutation_p.D452Y|MECOM_ENST00000472280.1_Missense_Mutation_p.D265Y|MECOM_ENST00000433243.2_Missense_Mutation_p.D265Y|MECOM_ENST00000264674.3_Missense_Mutation_p.D329Y|MECOM_ENST00000392736.3_Missense_Mutation_p.D264Y|MECOM_ENST00000460814.1_Missense_Mutation_p.D264Y	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GACGTTTTATCCATAGCTGGG	0.478																																						uc003ffi.3		NaN																	0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(790-792)GAT>TAT		MDS1 and EVI1 complex locus isoform b							340.0	297.0	312.0					3																	168834306		2203	4300	6503	SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168834306C>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.790G>T	3.37:g.168834306C>A	ENSP00000419770:p.Asp264Tyr					MECOM_uc010hwk.1_Missense_Mutation_p.D287Y|MECOM_uc003ffj.3_Missense_Mutation_p.D329Y|MECOM_uc011bpi.1_Missense_Mutation_p.D265Y|MECOM_uc003ffn.3_Missense_Mutation_p.D264Y|MECOM_uc003ffk.2_Missense_Mutation_p.D264Y|MECOM_uc003ffl.2_Missense_Mutation_p.D424Y|MECOM_uc011bpj.1_Missense_Mutation_p.D452Y|MECOM_uc011bpk.1_Missense_Mutation_p.D254Y|MECOM_uc010hwn.2_Missense_Mutation_p.D452Y	p.D264Y	NM_005241	NP_005232	Q03112	EVI1_HUMAN			7	1059	-			264					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.790G>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459565	0.63401	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06768	3.32;3.31;3.27;3.42;3.26;3.31;3.27;3.42	6.03	6.03	0.97812	.	0.276961	0.36555	N	0.002522	T	0.26448	0.0646	L	0.54323	1.7	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	0.91635	0.999;0.999;0.998;0.999;0.998	T	0.00180	-1.1949	10	0.24483	T	0.36	-17.4896	20.5568	0.99304	0.0:1.0:0.0:0.0	.	452;265;452;329;264	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	Y	329;264;264;265;452;264;264;265	ENSP00000264674:D329Y;ENSP00000376493:D264Y;ENSP00000419770:D264Y;ENSP00000420048:D265Y;ENSP00000417899:D452Y;ENSP00000419995:D264Y;ENSP00000420466:D264Y;ENSP00000394302:D265Y	ENSP00000264674:D329Y	D	-	1	0	MECOM	170317000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	GAT		0.478	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1		NM_005241, NM_004991		35	31	1	0	5.8336e-16	0.003271	6.19057e-16	35	31		
LRRIQ4	344657	broad.mit.edu	37	3	169539844	169539844	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:169539844C>T	ENST00000340806.6	+	1	135	c.135C>T	c.(133-135)ttC>ttT	p.F45F		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	45										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGGAGATCTTCACATTCACAG	0.398																																						uc003fgb.2		NaN																	0					0						c.(133-135)TTC>TTT		leucine-rich repeats and IQ motif containing 4							104.0	102.0	103.0					3																	169539844		1915	4133	6048	SO:0001819	synonymous_variant	344657							g.chr3:169539844C>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.135C>T	3.37:g.169539844C>T							p.F45F	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	135	+			45			LRR 1.			Silent	SNP	ENST00000340806.6	37	c.135C>T	CCDS46951.1																																																																																				0.398	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1		NM_001080460		15	60	0	0	0	0.012319	0	15	60		
TBL1XR1	79718	broad.mit.edu	37	3	176755921	176755921	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:176755921G>C	ENST00000430069.1	-	12	1346	c.1087C>G	c.(1087-1089)Ctc>Gtc	p.L363V	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.L363V			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	363					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GAGGCCAAGAGATTGCCAGTT	0.383																																						uc003fiw.3		NaN																	0				ovary(1)	1						c.(1087-1089)CTC>GTC		transducin (beta)-like 1 X-linked receptor 1							95.0	91.0	92.0					3																	176755921		1888	4108	5996	SO:0001583	missense	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176755921G>C	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1087C>G	3.37:g.176755921G>C	ENSP00000405574:p.Leu363Val					TBL1XR1_uc003fix.3_Missense_Mutation_p.L363V|TBL1XR1_uc011bpz.1_Missense_Mutation_p.L35V	p.L363V	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		12	1347	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	363			WD 5.		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	c.1087C>G	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202981	0.79127	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.61274	0.12;0.12	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.130154	0.52532	D	0.000064	T	0.68705	0.3030	L	0.46614	1.455	0.80722	D	1	P	0.50369	0.934	P	0.59643	0.861	T	0.68258	-0.5456	10	0.51188	T	0.08	-3.3141	18.3369	0.90291	0.0:0.0:1.0:0.0	.	363	Q9BZK7	TBL1R_HUMAN	V	363;363;225	ENSP00000405574:L363V;ENSP00000413251:L363V	ENSP00000405574:L363V	L	-	1	0	TBL1XR1	178238615	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.749000	0.62155	2.581000	0.87130	0.585000	0.79938	CTC		0.383	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3		NM_024665		21	23	0	0	0	0.008361	0	21	23		
USP13	8975	broad.mit.edu	37	3	179371085	179371085	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:179371085C>T	ENST00000263966.3	+	1	543	c.72C>T	c.(70-72)atC>atT	p.I24I	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_5'Flank	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	24					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CAGGAGACATCGGCGAGCTGC	0.692																																						uc003fkh.2		NaN																	0				ovary(1)	1						c.(70-72)ATC>ATT		ubiquitin thiolesterase 13							34.0	27.0	29.0					3																	179371085		2169	4262	6431	SO:0001819	synonymous_variant	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179371085C>T	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.72C>T	3.37:g.179371085C>T						USP13_uc003fkf.2_Silent_p.I24I	p.I24I	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		1	153	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		24					A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	ENST00000263966.3	37	c.72C>T	CCDS3235.1																																																																																				0.692	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1				4	3	0	0	0	0.000602	0	4	3		
CHRD	8646	broad.mit.edu	37	3	184099750	184099750	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:184099750C>G	ENST00000204604.1	+	6	887	c.641C>G	c.(640-642)tCa>tGa	p.S214*	CHRD_ENST00000348986.3_Nonsense_Mutation_p.S214*|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_5'Flank|CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000450923.1_Nonsense_Mutation_p.S214*	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	214	CHRD 1. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCCGCTTCTCAGACTCCAAT	0.607																																						uc003fov.2		NaN																	0				skin(2)|ovary(1)	3						c.(640-642)TCA>TGA		chordin precursor							59.0	51.0	54.0					3																	184099750		2203	4300	6503	SO:0001587	stop_gained	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184099750C>G	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.641C>G	3.37:g.184099750C>G	ENSP00000204604:p.Ser214*					CHRD_uc003fow.2_5'UTR|CHRD_uc003fox.2_Nonsense_Mutation_p.S214*|CHRD_uc003foy.2_5'UTR|CHRD_uc010hyc.2_5'UTR|CHRD_uc011brr.1_5'Flank	p.S214*	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	887	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		214			CHRD 1.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Nonsense_Mutation	SNP	ENST00000204604.1	37	c.641C>G	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107879	0.94292	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986	.	.	.	5.2	5.2	0.72013	.	0.331543	0.29253	N	0.012693	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-8.3744	14.2695	0.66143	0.0:0.8502:0.1497:0.0	.	.	.	.	X	214	.	ENSP00000204604:S214X	S	+	2	0	CHRD	185582444	0.610000	0.26983	0.997000	0.53966	0.990000	0.78478	1.776000	0.38594	2.595000	0.87683	0.655000	0.94253	TCA		0.607	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1		NM_003741		22	50	0	0	0	0.004656	0	22	50		
ACAP2	23527	broad.mit.edu	37	3	195063325	195063325	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:195063325C>G	ENST00000326793.6	-	6	633	c.403G>C	c.(403-405)Gaa>Caa	p.E135Q		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	135	BAR.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AACGCATTTTCTTTTTCTTCA	0.328																																						uc003fun.3		NaN																	0				large_intestine(1)|ovary(1)	2						c.(403-405)GAA>CAA		centaurin, beta 2							172.0	156.0	162.0					3																	195063325		2203	4300	6503	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195063325C>G		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.403G>C	3.37:g.195063325C>G	ENSP00000324287:p.Glu135Gln					ACAP2_uc003fuo.2_Missense_Mutation_p.E135Q	p.E135Q	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			6	644	-			135			BAR.		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.403G>C	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.926164|4.926164	0.92319|0.92319	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000439758;ENST00000423531	T|.	0.05786|.	3.39|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.088887|.	0.85682|.	D|.	0.000000|.	T|T	0.78672|0.78672	0.4320|0.4320	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	D|.	0.56968|.	0.978|.	P|.	0.52823|.	0.71|.	T|T	0.76732|0.76732	-0.2851|-0.2851	10|5	0.72032|.	D|.	0.01|.	.|.	19.6516|19.6516	0.95815|0.95815	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	135|.	Q15057|.	ACAP2_HUMAN|.	Q|T	135|5;88	ENSP00000324287:E135Q|.	ENSP00000324287:E135Q|.	E|R	-|-	1|2	0|0	ACAP2|ACAP2	196544614|196544614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	7.440000|7.440000	0.80464|0.80464	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.328	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2		NM_012287		14	5	0	0	0	0.001855	0	14	5		
TFRC	7037	broad.mit.edu	37	3	195780393	195780393	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:195780393G>A	ENST00000360110.4	-	18	2105	c.1936C>T	c.(1936-1938)Cgt>Tgt	p.R646C	TFRC_ENST00000392396.3_Missense_Mutation_p.R646C|TFRC_ENST00000420415.1_Missense_Mutation_p.R565C|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.R364C	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	646	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)	p.R646S(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	AAGTCTCCACGAGCAGAATAC	0.403			T	BCL6	NHL																																	uc003fvz.3		NaN		Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1936-1938)CGT>TGT		transferrin receptor							115.0	116.0	116.0					3																	195780393		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195780393G>A	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1936C>T	3.37:g.195780393G>A	ENSP00000353224:p.Arg646Cys					TFRC_uc003fwa.3_Missense_Mutation_p.R646C|TFRC_uc010hzy.2_Missense_Mutation_p.R565C|TFRC_uc011btr.1_Missense_Mutation_p.R364C	p.R646C	NM_003234	NP_003225	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	18	2219	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		646	R->A,H: No binding to transferrin.|R->K: 5% binding to transferrin.		Cell attachment site; required for binding to transferrin.|Extracellular (Potential).|Ligand-binding.		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.1936C>T	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885399	0.72410	.	.	ENSG00000072274	ENST00000426789;ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.6	5.6	0.85130	Transferrin receptor-like, dimerisation domain (3);	0.274240	0.41712	D	0.000829	T	0.74520	0.3727	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74993	-0.3474	10	0.48119	T	0.1	-15.0455	13.5546	0.61751	0.0:0.0:0.8446:0.1554	.	646	P02786	TFR1_HUMAN	C	58;646;565;646;364	ENSP00000414015:R58C;ENSP00000353224:R646C;ENSP00000390133:R565C;ENSP00000376197:R646C;ENSP00000437753:R364C	ENSP00000353224:R646C	R	-	1	0	TFRC	197264790	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.736000	0.47385	2.635000	0.89317	0.655000	0.94253	CGT		0.403	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1				68	59	0	0	0	0.00361	0	68	59		
GAK	2580	broad.mit.edu	37	4	844837	844837	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:844837C>G	ENST00000314167.4	-	26	3654	c.3544G>C	c.(3544-3546)Gat>Cat	p.D1182H	GAK_ENST00000511163.1_Missense_Mutation_p.D1103H|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1182					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GACAACAGATCTTCAAAGTCG	0.478																																						uc003gbm.3		NaN																	0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(3544-3546)GAT>CAT		cyclin G associated kinase							160.0	152.0	155.0					4																	844837		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:844837C>G	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3544G>C	4.37:g.844837C>G	ENSP00000314499:p.Asp1182His					GAK_uc003gbn.3_Missense_Mutation_p.D1103H|GAK_uc003gbk.3_Intron|GAK_uc010ibi.2_Missense_Mutation_p.D407H|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.D1035H	p.D1182H	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	26	3743	-			1182					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.3544G>C	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.268555|4.268555	0.80469|0.80469	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000511980	T;T|.	0.46063|.	0.88;0.88|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Heat shock protein DnaJ, N-terminal (2);|.	0.056181|.	0.64402|.	D|.	0.000002|.	T|T	0.72590|0.72590	0.3479|0.3479	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.77557|.	0.99;0.971;0.986;0.986|.	T|T	0.71069|0.71069	-0.4699|-0.4699	10|5	0.87932|.	D|.	0|.	-38.4523|-38.4523	16.6821|16.6821	0.85295|0.85295	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1084;1103;1182;1067|.	B4DS37;E9PGR2;O14976;Q59HA5|.	.;.;GAK_HUMAN;.|.	H|N	458;1182;1103|337	ENSP00000314499:D1182H;ENSP00000421361:D1103H|.	ENSP00000314499:D1182H|.	D|K	-|-	1|3	0|2	GAK|GAK	834837|834837	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.722000|0.722000	0.41435|0.41435	7.627000|7.627000	0.83176|0.83176	2.527000|2.527000	0.85204|0.85204	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.478	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1		NM_005255		19	49	0	0	0	0.012319	0	19	49		
POLN	353497	broad.mit.edu	37	4	2172884	2172884	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:2172884C>G	ENST00000511885.2	-	12	1752	c.1399G>C	c.(1399-1401)Gaa>Caa	p.E467Q	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.E467Q			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	467					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AAATGAGCTTCTTGCTCCAAT	0.323								DNA polymerases (catalytic subunits)																														uc003ger.2		NaN																	0				kidney(2)|ovary(1)|skin(1)	4						c.(1399-1401)GAA>CAA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							95.0	96.0	96.0					4																	2172884		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2172884C>G	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1399G>C	4.37:g.2172884C>G	ENSP00000435506:p.Glu467Gln					POLN_uc010ich.1_Missense_Mutation_p.E58Q|POLN_uc011bvi.1_Missense_Mutation_p.E467Q	p.E467Q	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		10	1399	-			467					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.1399G>C	CCDS3360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.46|16.46	3.129705|3.129705	0.56721|0.56721	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857|ENST00000511098	T;T|.	0.05580|.	3.42;3.42|.	5.53|5.53	4.67|4.67	0.58626|0.58626	DNA-directed DNA polymerase, family A, palm domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59838|0.59838	0.2223|0.2223	L|L	0.49640|0.49640	1.575|1.575	0.40104|0.40104	D|D	0.9764|0.9764	D;D;P|.	0.63046|.	0.992;0.966;0.588|.	D;P;P|.	0.64595|.	0.927;0.693;0.573|.	T|T	0.56068|0.56068	-0.8040|-0.8040	10|5	0.33940|.	T|.	0.23|.	-27.3088|-27.3088	10.5238|10.5238	0.44936|0.44936	0.0:0.9108:0.0:0.0892|0.0:0.9108:0.0:0.0892	.|.	467;57;467|.	E7ERY2;C9JDP8;Q7Z5Q5|.	.;.;DPOLN_HUMAN|.	Q|N	467;467;158;57|100	ENSP00000435506:E467Q;ENSP00000372316:E467Q|.	ENSP00000253313:E158Q|.	E|K	-|-	1|3	0|2	POLN|POLN	2142682|2142682	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.249000|2.249000	0.43169|0.43169	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.323	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2		NM_181808		34	18	0	0	0	0.00874	0	34	18		
OTOP1	133060	broad.mit.edu	37	4	4199382	4199382	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:4199382G>A	ENST00000296358.4	-	5	1203	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	393					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCCCACCAAGAGGTCCGAGT	0.597																																						uc003ghp.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1177-1179)CTC>CTT		otopetrin 1							45.0	51.0	49.0					4																	4199382		2203	4300	6503	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199382G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1179C>T	4.37:g.4199382G>A							p.L393L	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1209	-			393			Helical; (Potential).		A1L476	Silent	SNP	ENST00000296358.4	37	c.1179C>T	CCDS3372.1																																																																																				0.597	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2		NM_177998		55	62	0	0	0	0.00361	0	55	62		
TBC1D1	23216	broad.mit.edu	37	4	38138896	38138896	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:38138896G>A	ENST00000261439.4	+	20	3802	c.3447G>A	c.(3445-3447)cgG>cgA	p.R1149R	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Silent_p.R1140R	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1149					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TGCGGCGGCGGAGCGCAGAGC	0.647																																						uc003gtb.2		NaN																	0				ovary(1)	1						c.(3445-3447)CGG>CGA		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							23.0	28.0	27.0					4																	38138896		2203	4298	6501	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38138896G>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3447G>A	4.37:g.38138896G>A						TBC1D1_uc011byd.1_Silent_p.R1140R|TBC1D1_uc010ifd.2_Silent_p.R936R|TBC1D1_uc003gtd.2_Silent_p.R161R	p.R1149R	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			20	3790	+			1149					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.3447G>A	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	G	5.806	0.333054	0.11013	.	.	ENSG00000065882	ENST00000510573	.	.	.	5.16	2.43	0.29744	.	.	.	.	.	T	0.34687	0.0906	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20571	-1.0271	4	.	.	.	-1.0221	8.1261	0.30999	0.2592:0.0:0.7408:0.0	.	.	.	.	K	837	.	.	E	+	1	0	TBC1D1	37815291	0.015000	0.18098	0.001000	0.08648	0.004000	0.04260	1.512000	0.35812	0.746000	0.32786	0.650000	0.86243	GAG		0.647	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2		NM_015173		16	193	0	0	0	0.004007	0	16	193		
N4BP2	55728	broad.mit.edu	37	4	40104488	40104488	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:40104488G>A	ENST00000261435.6	+	4	1439	c.1023G>A	c.(1021-1023)gtG>gtA	p.V341V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	341	Pro-rich.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GGAAGGATGTGAGTTACTGCC	0.502																																						uc003guy.3		NaN																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(1021-1023)GTG>GTA		Nedd4 binding protein 2							109.0	110.0	110.0					4																	40104488		2203	4300	6503	SO:0001819	synonymous_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40104488G>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1023G>A	4.37:g.40104488G>A						N4BP2_uc010ifq.2_Silent_p.V261V|N4BP2_uc010ifr.2_Silent_p.V261V	p.V341V	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			4	1361	+			341			Pro-rich.		A0AVR3|Q9NVK2|Q9P2D4	Silent	SNP	ENST00000261435.6	37	c.1023G>A	CCDS3457.1																																																																																				0.502	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2		NM_018177		21	37	0	0	0	0.00333	0	21	37		
LPHN3	23284	broad.mit.edu	37	4	62849139	62849139	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:62849139C>T	ENST00000514591.1	+	18	3179	c.2850C>T	c.(2848-2850)ttC>ttT	p.F950F	LPHN3_ENST00000506746.1_Silent_p.F1018F|LPHN3_ENST00000506720.1_Silent_p.F1018F|LPHN3_ENST00000508946.1_Silent_p.F950F|LPHN3_ENST00000514996.1_Silent_p.F950F|LPHN3_ENST00000514157.1_Silent_p.F950F|LPHN3_ENST00000507164.1_Silent_p.F1018F|LPHN3_ENST00000507625.1_Silent_p.F1018F|LPHN3_ENST00000512091.2_Silent_p.F950F|LPHN3_ENST00000511324.1_Silent_p.F1018F|LPHN3_ENST00000509896.1_Silent_p.F1018F|LPHN3_ENST00000506700.1_Silent_p.F950F|LPHN3_ENST00000545650.1_Silent_p.F950F|LPHN3_ENST00000508693.1_Silent_p.F1018F|LPHN3_ENST00000504896.1_Silent_p.F950F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	937					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACATTTCTTCTTCTTGGCTG	0.438																																						uc010ihh.2		NaN																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2848-2850)TTC>TTT		latrophilin 3 precursor							140.0	131.0	133.0					4																	62849139		1954	4164	6118	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62849139C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2850C>T	4.37:g.62849139C>T						LPHN3_uc003hcq.3_Silent_p.F950F|LPHN3_uc003hct.2_Silent_p.F343F	p.F950F	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			16	3023	+			937			Helical; Name=3; (Potential).		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.2850C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	7.723	0.697594	0.15106	.	.	ENSG00000150471	ENST00000502815	.	.	.	5.38	4.54	0.55810	.	.	.	.	.	T	0.70098	0.3185	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69457	-0.5140	4	.	.	.	.	14.3167	0.66457	0.0:0.9282:0.0:0.0718	.	.	.	.	F	408	.	.	L	+	1	0	LPHN3	62531734	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	4.910000	0.63321	1.410000	0.46936	0.585000	0.79938	CTT		0.438	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1				10	18	0	0	0	0.001855	0	10	18		
FRAS1	80144	broad.mit.edu	37	4	79437102	79437102	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:79437102G>A	ENST00000264895.6	+	66	10764	c.10324G>A	c.(10324-10326)Gat>Aat	p.D3442N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3438					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGGACCTTTGATGCTTATTA	0.557																																						uc003hlb.2		NaN																	0				large_intestine(5)	5						c.(10324-10326)GAT>AAT		Fraser syndrome 1							100.0	109.0	106.0					4																	79437102		2121	4248	6369	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79437102G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10324G>A	4.37:g.79437102G>A	ENSP00000264895:p.Asp3442Asn						p.D3442N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			66	10764	+			3437			Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.10324G>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096249	0.56075	.	.	ENSG00000138759	ENST00000264895	T	0.12569	2.67	5.97	5.12	0.69794	.	0.050333	0.85682	D	0.000000	T	0.31136	0.0787	L	0.43757	1.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01920	-1.1247	10	0.45353	T	0.12	.	17.1451	0.86764	0.0:0.1266:0.8734:0.0	.	3442	E9PHH6	.	N	3442	ENSP00000264895:D3442N	ENSP00000264895:D3442N	D	+	1	0	FRAS1	79656126	1.000000	0.71417	0.984000	0.44739	0.264000	0.26372	6.298000	0.72763	1.510000	0.48803	-0.282000	0.10007	GAT		0.557	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					11	27	0	0	0	0.008291	0	11	27		
WDFY3	23001	broad.mit.edu	37	4	85741262	85741262	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:85741262G>A	ENST00000295888.4	-	12	2076	c.1669C>T	c.(1669-1671)Ctt>Ttt	p.L557F	WDFY3_ENST00000322366.6_Missense_Mutation_p.L557F	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	557					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GATCCTTGAAGAAGCACTGTC	0.378																																						uc003hpd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1669-1671)CTT>TTT		WD repeat and FYVE domain containing 3 isoform							208.0	224.0	219.0					4																	85741262		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85741262G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1669C>T	4.37:g.85741262G>A	ENSP00000295888:p.Leu557Phe					WDFY3_uc003hpf.2_Missense_Mutation_p.L557F	p.L557F	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	12	2077	-		Hepatocellular(203;0.114)	557					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.1669C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956594	0.92726	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.72167	-0.63;-0.63	5.68	5.68	0.88126	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.84804	0.5553	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.71656	0.944;0.974	D	0.84852	0.0814	10	0.52906	T	0.07	.	19.839	0.96675	0.0:0.0:1.0:0.0	.	557;557	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	F	557	ENSP00000318466:L557F;ENSP00000295888:L557F	ENSP00000295888:L557F	L	-	1	0	WDFY3	85960286	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	5.044000	0.64214	2.678000	0.91216	0.579000	0.79373	CTT		0.378	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991		35	145	0	0	0	0.011902	0	35	145		
MMRN1	22915	broad.mit.edu	37	4	90857267	90857267	+	Silent	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:90857267T>C	ENST00000394980.1	+	7	2755	c.2436T>C	c.(2434-2436)gaT>gaC	p.D812D	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Silent_p.D812D|MMRN1_ENST00000508372.1_Silent_p.D554D			Q13201	MMRN1_HUMAN	multimerin 1	812					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTCCCAGAGATGAGAAACTAA	0.383																																						uc003hst.2		NaN																	0				ovary(4)	4						c.(2434-2436)GAT>GAC		multimerin 1							40.0	43.0	42.0					4																	90857267		2202	4299	6501	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857267T>C	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2436T>C	4.37:g.90857267T>C						MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.D554D	p.D812D	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	2507	+		Hepatocellular(203;0.114)	812					Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.2436T>C	CCDS3635.1																																																																																				0.383	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2		NM_007351		9	30	0	0	0	0.010729	0	9	30		
RAP1GDS1	5910	broad.mit.edu	37	4	99325699	99325699	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:99325699G>C	ENST00000408927.3	+	7	822	c.709G>C	c.(709-711)Gaa>Caa	p.E237Q	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.E238Q|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.E238Q|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.E189Q|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.E188Q|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.E146Q	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	237				E -> G (in Ref. 6; AAH98269). {ECO:0000305}.	myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GAAACAAATAGAACATGATAA	0.318			T	NUP98	T-ALL																																	uc003htx.3		NaN		Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		0				ovary(1)|lung(1)|breast(1)	3						c.(709-711)GAA>CAA		RAP1, GTP-GDP dissociation stimulator 1 isoform							85.0	85.0	85.0					4																	99325699		1816	4067	5883	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99325699G>C		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.709G>C	4.37:g.99325699G>C	ENSP00000386153:p.Glu237Gln					RAP1GDS1_uc003htw.3_Missense_Mutation_p.E238Q|RAP1GDS1_uc003htv.3_Missense_Mutation_p.E238Q|RAP1GDS1_uc003htz.3_Missense_Mutation_p.E188Q|RAP1GDS1_uc003hty.3_Missense_Mutation_p.E189Q|RAP1GDS1_uc003hua.3_Missense_Mutation_p.E146Q	p.E237Q	NM_001100427	NP_001093897	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	7	899	+			237					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.709G>C	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914808	0.92178	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000514122;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T;T	0.50813	0.73;1.52;0.73;1.27;0.73;0.73;0.73	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	L	0.36672	1.1	0.80722	D	1	P;D;D;D;D	0.67145	0.947;0.996;0.993;0.967;0.979	B;D;D;B;P	0.75484	0.424;0.986;0.968;0.241;0.617	T	0.47686	-0.9098	10	0.13853	T	0.58	-16.6439	19.7714	0.96367	0.0:0.0:1.0:0.0	.	146;188;189;237;238	E9PH06;P52306-2;Q499L7;P52306;G5E9P9	.;.;.;GDS1_HUMAN;.	Q	189;146;237;146;238;188;238	ENSP00000369503:E189Q;ENSP00000264572:E146Q;ENSP00000386153:E237Q;ENSP00000424324:E146Q;ENSP00000407157:E238Q;ENSP00000386223:E188Q;ENSP00000340454:E238Q	ENSP00000264572:E146Q	E	+	1	0	RAP1GDS1	99544722	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.672000	0.90937	0.484000	0.47621	GAA		0.318	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2		NM_001100426		9	25	0	0	0	0.004482	0	9	25		
ANK2	287	broad.mit.edu	37	4	114278820	114278820	+	Missense_Mutation	SNP	G	G	A	rs149963885	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:114278820G>A	ENST00000357077.4	+	38	9099	c.9046G>A	c.(9046-9048)Gag>Aag	p.E3016K	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2983K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3016					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCATCTTTCGAGCCTACTAT	0.398													G|||	2	0.000399361	0.0	0.0029	5008	,	,		22260	0.0		0.0	False		,,,				2504	0.0					uc003ibe.3		NaN																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(9046-9048)GAG>AAG		ankyrin 2 isoform 1		G	,LYS/GLU,	1,4405	2.1+/-5.4	0,1,2202	103.0	100.0	101.0		,9046,	2.8	0.0	4	dbSNP_134	101	7,8593	5.7+/-21.5	0,7,4293	yes	intron,missense,intron	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,56,	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	,benign,	,3016/3958,	114278820	8,12998	2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114278820G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9046G>A	4.37:g.114278820G>A	ENSP00000349588:p.Glu3016Lys					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.E318K|ANK2_uc011cgb.1_Missense_Mutation_p.E3031K	p.E3016K	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9146	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2983					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.9046G>A	CCDS3702.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	G	3.061	-0.193346	0.06259	2.27E-4	8.14E-4	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.95918	-0.16;-0.17;-3.85	4.52	2.77	0.32553	.	0.947352	0.08748	N	0.899457	D	0.88862	0.6552	L	0.53249	1.67	0.32262	N	0.57008	B;B	0.28880	0.226;0.0	B;B	0.20184	0.028;0.001	T	0.82252	-0.0549	10	0.06236	T	0.91	.	9.0883	0.36594	0.0793:0.147:0.7737:0.0	.	2983;3016	Q01484;Q01484-4	ANK2_HUMAN;.	K	3016;2983;26	ENSP00000349588:E3016K;ENSP00000264366:E2983K;ENSP00000422498:E26K	ENSP00000264366:E2983K	E	+	1	0	ANK2	114498269	0.043000	0.20138	0.001000	0.08648	0.001000	0.01503	1.857000	0.39399	0.811000	0.34303	-0.137000	0.14449	GAG		0.398	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		42	76	0	0	0	0.00361	0	42	76		
SYNPO2	171024	broad.mit.edu	37	4	119951529	119951529	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:119951529G>A	ENST00000429713.2	+	4	1781	c.1599G>A	c.(1597-1599)acG>acA	p.T533T	SYNPO2_ENST00000307142.4_Silent_p.T533T|SYNPO2_ENST00000434046.2_Silent_p.T533T|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	533						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGAGAACCACGACTTCTTACC	0.507																																						uc003icm.3		NaN																	0				ovary(2)	2						c.(1597-1599)ACG>ACA		synaptopodin 2 isoform b							65.0	59.0	61.0					4																	119951529		2203	4300	6503	SO:0001819	synonymous_variant	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119951529G>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1599G>A	4.37:g.119951529G>A						SYNPO2_uc010ina.2_Silent_p.T533T|SYNPO2_uc010inb.2_Silent_p.T533T|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.T461T	p.T533T	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN			4	1795	+			533					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	37	c.1599G>A	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.043269	0.00398	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.38	2.5	0.30297	.	.	.	.	.	T	0.32255	0.0823	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.18272	-1.0342	4	.	.	.	0.2208	6.4134	0.21704	0.1568:0.3449:0.4984:0.0	.	.	.	.	N	485	.	.	D	+	1	0	SYNPO2	120170977	0.028000	0.19301	0.004000	0.12327	0.003000	0.03518	0.592000	0.23984	1.211000	0.43351	0.655000	0.94253	GAC		0.507	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1				23	20	0	0	0	0.003954	0	23	20		
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						uc003ika.3		NaN																	0				ovary(2)|breast(1)	3						c.(2725-2727)ACT>ATT		OTU domain containing 4 protein isoform 3							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_uc003ijz.3_Missense_Mutation_p.T908I	p.T909I	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			21	2864	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2		NM_017493		4	133	0	0	0	0.009096	0	4	133		
MORF4	10934	broad.mit.edu	37	4	174537213	174537213	+	IGR	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:174537213C>G								RP11-475B2.1 (21506 upstream) : RP11-161D15.2 (280331 downstream)																							AAGCAAGGCTCTTCTCATTCA	0.438																																						uc011cke.1		NaN																	0					0						c.(580-582)AAG>AAC		mortality factor 4							124.0	114.0	117.0					4																	174537213		2203	4300	6503	SO:0001628	intergenic_variant	10934							g.chr4:174537213C>G																													4.37:g.174537213C>G							p.K194N	NM_006792	NP_006783				all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	582	-		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)							Missense_Mutation	SNP		37	c.582G>C																																																																																				0	0.438										25	46	0	0	0	0.007291	0	25	46		
ADAMTS16	170690	broad.mit.edu	37	5	5239991	5239991	+	Missense_Mutation	SNP	G	G	A	rs552210881		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:5239991G>A	ENST00000274181.7	+	16	2614	c.2476G>A	c.(2476-2478)Gag>Aag	p.E826K		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	826	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TAATGAGCCCGAGAACTTAAT	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		15779	0.001		0.0	False		,,,				2504	0.0					uc003jdl.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2476-2478)GAG>AAG		ADAM metallopeptidase with thrombospondin type 1							94.0	92.0	93.0					5																	5239991		1869	4110	5979	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239991G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2476G>A	5.37:g.5239991G>A	ENSP00000274181:p.Glu826Lys					ADAMTS16_uc003jdk.1_Missense_Mutation_p.E826K	p.E826K	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			16	2614	+			826			Spacer.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2476G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371479	0.82573	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.64438	-0.1	5.56	5.56	0.83823	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	D	0.85873	0.5798	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89821	0.3989	10	0.87932	D	0	.	18.2879	0.90120	0.0:0.0:1.0:0.0	.	826;826	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	K	826	ENSP00000274181:E826K	ENSP00000274181:E826K	E	+	1	0	ADAMTS16	5292991	1.000000	0.71417	0.938000	0.37757	0.152000	0.21847	8.985000	0.93487	2.615000	0.88500	0.655000	0.94253	GAG		0.517	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1		NM_139056		27	118	0	0	0	0.009535	0	27	118		
ICE1	23379	broad.mit.edu	37	5	5460802	5460802	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:5460802C>T	ENST00000296564.7	+	13	1577	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		452					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGAGAGAATCTTCTGCCACA	0.408																																						uc003jdm.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1354-1356)TCT>TTT		hypothetical protein LOC23379							77.0	73.0	74.0					5																	5460802		1967	4139	6106	SO:0001583	missense	23379							g.chr5:5460802C>T																												ENST00000296564.7:c.1355C>T	5.37:g.5460802C>T	ENSP00000296564:p.Ser452Phe						p.S452F	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	1577	+			452					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.1355C>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423685	0.62733	.	.	ENSG00000164151	ENST00000296564	T	0.44881	0.91	4.14	2.16	0.27623	.	1.150900	0.06501	N	0.736384	T	0.22975	0.0555	N	0.08118	0	0.09310	N	1	P	0.43094	0.799	B	0.34931	0.192	T	0.18903	-1.0322	10	0.66056	D	0.02	-8.0638	9.5348	0.39216	0.3698:0.6302:0.0:0.0	.	452	Q9Y2F5	K0947_HUMAN	F	452	ENSP00000296564:S452F	ENSP00000296564:S452F	S	+	2	0	KIAA0947	5513802	0.000000	0.05858	0.001000	0.08648	0.834000	0.47266	0.257000	0.18369	0.835000	0.34877	0.305000	0.20034	TCT		0.408	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1				7	27	0	0	0	0.006214	0	7	27		
RICTOR	253260	broad.mit.edu	37	5	38947495	38947495	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:38947495C>T	ENST00000357387.3	-	32	4215	c.4185G>A	c.(4183-4185)ttG>ttA	p.L1395L	RICTOR_ENST00000296782.5_Silent_p.L1419L	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.L1395L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TAATAGGACTCAATAAATCTT	0.373																																						uc003jlp.2		NaN																	1	Substitution - coding silent(1)	p.L1395L(1)	ovary(1)	ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(4183-4185)TTG>TTA		rapamycin-insensitive companion of mTOR							91.0	83.0	86.0					5																	38947495		2203	4300	6503	SO:0001819	synonymous_variant	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38947495C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4185G>A	5.37:g.38947495C>T						RICTOR_uc003jlo.2_Silent_p.L1419L|RICTOR_uc010ivf.2_Silent_p.L1110L	p.L1395L	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			32	4209	-	all_lung(31;0.000396)		1395						Silent	SNP	ENST00000357387.3	37	c.4185G>A	CCDS34148.1																																																																																				0.373	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1		NM_152756		34	30	0	0	0	0.010818	0	34	30		
MAP1B	4131	broad.mit.edu	37	5	71494799	71494799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:71494799C>T	ENST00000296755.7	+	5	5915	c.5617C>T	c.(5617-5619)Caa>Taa	p.Q1873*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1873					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTATGCCTATCAAAAGCCTGA	0.473																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NaN																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(5617-5619)CAA>TAA		microtubule-associated protein 1B							86.0	85.0	85.0					5																	71494799		2203	4300	6503	SO:0001587	stop_gained	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494799C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5617C>T	5.37:g.71494799C>T	ENSP00000296755:p.Gln1873*					MAP1B_uc010iyw.1_Nonsense_Mutation_p.Q1890*|MAP1B_uc010iyx.1_Nonsense_Mutation_p.Q1747*|MAP1B_uc010iyy.1_Nonsense_Mutation_p.Q1747*	p.Q1873*	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5858	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1873					A2BDK5	Nonsense_Mutation	SNP	ENST00000296755.7	37	c.5617C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	44	10.540187	0.99424	.	.	ENSG00000131711	ENST00000296755	.	.	.	5.52	4.65	0.58169	.	0.210930	0.33199	N	0.005162	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-7.1712	9.5907	0.39543	0.148:0.5655:0.2865:0.0	.	.	.	.	X	1873	.	ENSP00000296755:Q1873X	Q	+	1	0	MAP1B	71530555	0.975000	0.34042	0.938000	0.37757	0.313000	0.28021	0.956000	0.29202	1.337000	0.45525	0.551000	0.68910	CAA		0.473	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6		NM_005909		29	7	0	0	0	0.010818	0	29	7		
CHD1	1105	broad.mit.edu	37	5	98236691	98236691	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:98236691T>C	ENST00000284049.3	-	6	832	c.683A>G	c.(682-684)gAt>gGt	p.D228G		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	228					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ACTTCTTTTATCATTATCATA	0.363																																						uc003knf.2		NaN																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(682-684)GAT>GGT		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						151.0	146.0	148.0					5																	98236691		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98236691T>C	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.683A>G	5.37:g.98236691T>C	ENSP00000284049:p.Asp228Gly						p.D228G	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	6	831	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	228					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.683A>G	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192595	0.38707	.	.	ENSG00000153922	ENST00000284049	D	0.89681	-2.55	5.51	5.51	0.81932	.	0.000000	0.34555	U	0.003862	D	0.84306	0.5443	L	0.36672	1.1	0.39797	D	0.972519	B	0.06786	0.001	B	0.06405	0.002	T	0.80274	-0.1451	10	0.33141	T	0.24	.	15.9157	0.79517	0.0:0.0:0.0:1.0	.	228	O14646	CHD1_HUMAN	G	228	ENSP00000284049:D228G	ENSP00000284049:D228G	D	-	2	0	CHD1	98264591	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.830000	0.48136	2.218000	0.71995	0.377000	0.23210	GAT		0.363	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1		NM_001270		15	20	0	0	0	0.00499	0	15	20		
PPP2CA	5515	broad.mit.edu	37	5	133536147	133536147	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:133536147C>T	ENST00000481195.1	-	5	897	c.617G>A	c.(616-618)cGt>cAt	p.R206H	CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	206					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	CCAACCACCACGGTCATCTGG	0.413																																						uc003kze.2		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(616-618)CGT>CAT		protein phosphatase 2, catalytic subunit, alpha	Vitamin E(DB00163)						89.0	79.0	83.0					5																	133536147		2203	4300	6503	SO:0001583	missense	5515				ceramide metabolic process|inactivation of MAPK activity|induction of apoptosis|meiosis|negative regulation of cell growth|negative regulation of epithelial to mesenchymal transition|negative regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of protein serine/threonine kinase activity|protein dephosphorylation|regulation of cell adhesion|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction|spindle pole	metal ion binding|phosphoprotein phosphatase activity	g.chr5:133536147C>T		CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9299	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, alpha isoform"""	176915	"""protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"""			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.617G>A	5.37:g.133536147C>T	ENSP00000418447:p.Arg206His						p.R206H	NM_002715	NP_002706	P67775	PP2AA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1015	-			206					P05323|P13197	Missense_Mutation	SNP	ENST00000481195.1	37	c.617G>A	CCDS4173.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307465	0.81247	.	.	ENSG00000113575	ENST00000481195	T	0.41400	1.0	5.35	5.35	0.76521	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	M	0.83312	2.635	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.54146	-0.8337	10	0.62326	D	0.03	-4.7655	19.4318	0.94772	0.0:1.0:0.0:0.0	.	206	P67775	PP2AA_HUMAN	H	206	ENSP00000418447:R206H	ENSP00000418447:R206H	R	-	2	0	PPP2CA	133564046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.436000	0.80404	2.668000	0.90789	0.591000	0.81541	CGT		0.413	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1		NM_002715		36	12	0	0	0	0.00874	0	36	12		
PURA	5813	broad.mit.edu	37	5	139494256	139494256	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:139494256C>T	ENST00000331327.3	+	1	549	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	164					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAACCAGCGCGGCCGCTT	0.692																																						uc003lfa.2		NaN																	0					0						c.(490-492)CGC>TGC		purine-rich element binding protein A							16.0	20.0	19.0					5																	139494256		2196	4293	6489	SO:0001583	missense	5813				DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding	g.chr5:139494256C>T	BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.490C>T	5.37:g.139494256C>T	ENSP00000332706:p.Arg164Cys						p.R164C	NM_005859	NP_005850	Q00577	PURA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	549	+			164						Missense_Mutation	SNP	ENST00000331327.3	37	c.490C>T	CCDS4220.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399365	0.83120	.	.	ENSG00000185129	ENST00000331327	T	0.51817	0.69	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.72851	0.3512	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78481	-0.2187	10	0.87932	D	0	-4.6457	12.9484	0.58386	0.162:0.838:0.0:0.0	.	164	Q00577	PURA_HUMAN	C	164	ENSP00000332706:R164C	ENSP00000332706:R164C	R	+	1	0	PURA	139474440	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.096000	0.41738	2.564000	0.86499	0.655000	0.94253	CGC		0.692	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251341.3		NM_005859		11	30	0	0	0	0.001855	0	11	30		
WDR55	54853	broad.mit.edu	37	5	140048746	140048746	+	Missense_Mutation	SNP	G	G	A	rs557759167		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140048746G>A	ENST00000358337.5	+	6	980	c.743G>A	c.(742-744)cGc>cAc	p.R248H	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	248					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGTGACCGCTTTGCCCTG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		21143	0.001		0.0	False		,,,				2504	0.0					uc003lgr.3		NaN																	0				ovary(1)	1						c.(742-744)CGC>CAC		WD repeat domain 55							93.0	89.0	90.0					5																	140048746		2203	4300	6503	SO:0001583	missense	54853				rRNA processing	cytoplasm|nucleolus		g.chr5:140048746G>A	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.743G>A	5.37:g.140048746G>A	ENSP00000351100:p.Arg248His					WDR55_uc011czl.1_Missense_Mutation_p.R87H	p.R248H	NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	857	+			248					Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	c.743G>A	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697321	0.88830	.	.	ENSG00000120314	ENST00000358337	T	0.53206	0.63	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.73329	0.3573	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	T	0.75468	-0.3307	10	0.29301	T	0.29	0.0153	17.0088	0.86400	0.0:0.0:1.0:0.0	.	87;248	G3V1J0;Q9H6Y2	.;WDR55_HUMAN	H	248	ENSP00000351100:R248H	ENSP00000351100:R248H	R	+	2	0	WDR55	140028930	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.539000	0.98076	2.286000	0.76751	0.467000	0.42956	CGC		0.532	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3		NM_017706		8	72	0	0	0	0.00308	0	8	72		
PCDHA2	56146	broad.mit.edu	37	5	140175513	140175513	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140175513G>A	ENST00000526136.1	+	1	964	c.964G>A	c.(964-966)Gca>Aca	p.A322T	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A322T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A322T	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	322	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGTCACTGCAACTGACAA	0.378																																						uc003lhd.2		NaN																	0				ovary(4)	4						c.(964-966)GCA>ACA		protocadherin alpha 2 isoform 1 precursor							77.0	77.0	77.0					5																	140175513		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175513G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.964G>A	5.37:g.140175513G>A	ENSP00000431748:p.Ala322Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A322T|PCDHA2_uc011czy.1_Missense_Mutation_p.A322T	p.A322T	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1070	+			322			Cadherin 3.|Extracellular (Potential).		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.964G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	18.93	3.727208	0.69074	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.75589	-0.95;-0.95;-0.95	3.92	3.92	0.45320	Cadherin (4);Cadherin-like (1);	0.189304	0.25159	U	0.032683	D	0.92763	0.7699	H	0.99855	4.85	0.45515	D	0.998478	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77004	0.989;0.986;0.989	D	0.96318	0.9234	10	0.87932	D	0	.	16.4595	0.84032	0.0:0.0:1.0:0.0	.	322;322;322	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	322	ENSP00000430584:A322T;ENSP00000367372:A322T;ENSP00000431748:A322T	ENSP00000367372:A322T	A	+	1	0	PCDHA2	140155697	1.000000	0.71417	0.020000	0.16555	0.640000	0.38277	9.550000	0.98110	2.179000	0.69175	0.650000	0.86243	GCA		0.378	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3		NM_018905		12	35	0	0	0	0.010729	0	12	35		
PCDHB16	57717	broad.mit.edu	37	5	140563916	140563916	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140563916C>T	ENST00000361016.2	+	1	2937	c.1782C>T	c.(1780-1782)ggC>ggT	p.G594G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	594	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTGGACGGCGACTCGGGCC	0.706																																						uc003liv.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1780-1782)GGC>GGT		protocadherin beta 16 precursor							21.0	23.0	22.0					5																	140563916		2012	3808	5820	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563916C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1782C>T	5.37:g.140563916C>T						PCDHB9_uc003liw.1_5'Flank	p.G594G	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2937	+			594			Cadherin 6.|Extracellular (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1782C>T	CCDS4251.1																																																																																				0.706	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1		NM_020957		4	52	0	0	0	0.001168	0	4	52		
PCDHB10	56126	broad.mit.edu	37	5	140569002	140569002	+	5'Flank	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140569002C>T	ENST00000239446.4	+	0	0					NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCCTCTCGGTGCTCCTG	0.701																																						uc003liw.1		NaN																	0					0						c.(2110-2112)TCG>TTG		protocadherin beta 9 precursor							47.0	55.0	52.0					5																	140569002		2176	4213	6389	SO:0001631	upstream_gene_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140569002C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626		5.37:g.140569002C>T	Exception_encountered					PCDHB10_uc003lix.2_5'Flank	p.S704L	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	2111	+			704			Helical; (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.2111C>T	CCDS4252.1																																																																																				0.701	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1		NM_018930		99	204	0	0	0	0.00361	0	99	204		
PCDHGB3	56102	broad.mit.edu	37	5	140779598	140779598	+	Intron	SNP	G	G	A	rs373709904		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140779598G>A	ENST00000576222.1	+	1	2546				PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_5'Flank|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCGGCCCGCCAGCGCCTG	0.687																																						uc003lkf.1		NaN																	0					0						c.(1903-1905)CGC>CAC		protocadherin gamma subfamily B, 5 isoform 1		G	,,,,,,,,,,,HIS/ARG,,HIS/ARG	2,4160		0,2,2079	35.0	40.0	38.0		,,,,,,,,,,,1904,,1904	4.7	0.8	5		38	0,8402		0,0,4201	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,missense	PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_032088.1,NM_032099.1	,,,,,,,,,,,29,,29	0,2,6280	AA,AG,GG		0.0,0.0481,0.0159	,,,,,,,,,,,,,	,,,,,,,,,,,635/924,,635/819	140779598	2,12562	2081	4201	6282	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140779598G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+27222G>A	5.37:g.140779598G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.R635H|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank	p.R635H	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1904	+			635			Cadherin 6.|Extracellular (Potential).		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1904G>A	CCDS58980.1																																																																																				0.687	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1		NM_018924		15	29	0	0	0	0.00245	0	15	29		
DIAPH1	1729	broad.mit.edu	37	5	140953172	140953172	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140953172G>A	ENST00000398557.4	-	16	2385	c.2245C>T	c.(2245-2247)Cca>Tca	p.P749S	DIAPH1_ENST00000389054.3_Missense_Mutation_p.P749S|DIAPH1_ENST00000398562.2_Missense_Mutation_p.P728S|DIAPH1_ENST00000253811.6_Missense_Mutation_p.P749S|DIAPH1_ENST00000518047.1_Missense_Mutation_p.P740S|DIAPH1_ENST00000389057.5_Missense_Mutation_p.P740S|DIAPH1_ENST00000398566.3_Missense_Mutation_p.P740S|DIAPH1_ENST00000520569.1_Missense_Mutation_p.P695S	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	749	FH1.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGGAGGTGGAGGCATACCC	0.587																																						uc003llb.3		NaN																	0				skin(1)	1						c.(2245-2247)CCA>TCA		diaphanous 1 isoform 1							38.0	42.0	41.0					5																	140953172		1877	4102	5979	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140953172G>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.2245C>T	5.37:g.140953172G>A	ENSP00000381565:p.Pro749Ser					DIAPH1_uc003llc.3_Missense_Mutation_p.P740S|DIAPH1_uc010jgc.1_Missense_Mutation_p.P188S	p.P749S	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	2386	-			749			FH1.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.2245C>T	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404290	0.62288	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000546094	D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	3.97	3.97	0.46021	Actin-binding FH2 (1);Formin Homology 1 (1);	0.739778	0.10938	U	0.617578	D	0.90813	0.7115	M	0.72894	2.215	0.52501	D	0.999954	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69824	0.961;0.966;0.966	D	0.86432	0.1761	10	0.18276	T	0.48	.	14.9767	0.71281	0.0:0.0:1.0:0.0	.	695;740;749	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	S	749;695;728;740;740;749;749;740;188	ENSP00000373706:P749S;ENSP00000429282:P695S;ENSP00000381570:P728S;ENSP00000373709:P740S;ENSP00000381572:P740S;ENSP00000381565:P749S;ENSP00000253811:P749S;ENSP00000428268:P740S	ENSP00000253811:P749S	P	-	1	0	DIAPH1	140933356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.564000	0.60830	2.055000	0.61198	0.591000	0.81541	CCA		0.587	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_005219		14	34	0	0	0	0.003163	0	14	34		
ARHGAP26	23092	broad.mit.edu	37	5	142435652	142435652	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:142435652G>T	ENST00000274498.4	+	16	1810		c.e16+1		ARHGAP26_ENST00000378004.3_Splice_Site	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGCAGCAAGTAAGTCTTTT	0.353																																						uc011dbj.1		NaN																	0				ovary(1)	1						c.e16+1		GTPase regulator associated with the focal							150.0	146.0	147.0					5																	142435652		2203	4300	6503	SO:0001630	splice_region_variant	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142435652G>T	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1432+1G>T	5.37:g.142435652G>T						ARHGAP26_uc003lmt.2_Splice_Site_p.K478_splice|ARHGAP26_uc003lmw.2_Splice_Site_p.K478_splice	p.K478_splice	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	1467	+		all_hematologic(541;0.0416)						O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Splice_Site	SNP	ENST00000274498.4	37	c.1432_splice	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481887	0.63849	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668;ENST00000443674;ENST00000418236;ENST00000443045	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2117	0.98287	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP26	142415845	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.598000	0.90852	2.878000	0.98634	0.650000	0.86243	.		0.353	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3		NM_015071	Intron	33	55	1	0	2.05212e-20	0.005524	2.21333e-20	33	55		
ARSI	340075	broad.mit.edu	37	5	149676860	149676860	+	Missense_Mutation	SNP	G	G	A	rs142267983		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:149676860G>A	ENST00000328668.7	-	2	2206	c.1627C>T	c.(1627-1629)Cgt>Tgt	p.R543C		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	543					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTTGCGACGACCCCGGGAG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		20580	0.0		0.0	False		,,,				2504	0.001					uc003lrv.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1627-1629)CGT>TGT		arylsulfatase family, member I precursor		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	117.0	124.0	122.0		1627	3.7	1.0	5	dbSNP_134	122	0,8600		0,0,4300	no	missense	ARSI	NM_001012301.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	543/570	149676860	1,13005	2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149676860G>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1627C>T	5.37:g.149676860G>A	ENSP00000333395:p.Arg543Cys						p.R543C	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	2216	-			543					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.1627C>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	9.863	1.196914	0.22037	2.27E-4	0.0	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.97303	-4.33;-3.43	3.7	3.7	0.42460	.	0.345266	0.30791	N	0.008861	D	0.93575	0.7949	L	0.50333	1.59	0.35657	D	0.812231	P	0.46277	0.875	B	0.32211	0.142	D	0.96372	0.9274	10	0.72032	D	0.01	.	13.7682	0.63008	0.0:0.0:1.0:0.0	.	543	Q5FYB1	ARSI_HUMAN	C	543;400	ENSP00000333395:R543C;ENSP00000426879:R400C	ENSP00000333395:R543C	R	-	1	0	ARSI	149657053	1.000000	0.71417	0.997000	0.53966	0.574000	0.36063	5.747000	0.68689	2.356000	0.79943	0.643000	0.83706	CGT		0.547	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1		NM_001012301		42	96	0	0	0	0.00361	0	42	96		
TENM2	57451	broad.mit.edu	37	5	167642220	167642220	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:167642220G>A	ENST00000518659.1	+	21	4060	c.4021G>A	c.(4021-4023)Gaa>Aaa	p.E1341K	TENM2_ENST00000545108.1_Missense_Mutation_p.E1340K|TENM2_ENST00000519204.1_Missense_Mutation_p.E1220K|TENM2_ENST00000520394.1_Missense_Mutation_p.E1102K|TENM2_ENST00000403607.2_Missense_Mutation_p.E1165K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1341					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACCCTTTGATGAAGCCCGCTG	0.557																																						uc010jjd.2		NaN																	0				ovary(6)|central_nervous_system(4)	10						c.(3994-3996)GAA>AAA		odz, odd Oz/ten-m homolog 2							101.0	107.0	105.0					5																	167642220		1956	4131	6087	SO:0001583	missense	57451							g.chr5:167642220G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4021G>A	5.37:g.167642220G>A	ENSP00000429430:p.Glu1341Lys					ODZ2_uc003lzr.3_Missense_Mutation_p.E1102K|ODZ2_uc003lzt.3_Missense_Mutation_p.E705K|ODZ2_uc010jje.2_Missense_Mutation_p.E596K	p.E1332K	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	21	3994	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3994G>A		.	.	.	.	.	.	.	.	.	.	G	28.0	4.879621	0.91740	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90197	-2.15;-2.14;-2.26;-2.6;-2.63	5.1	5.1	0.69264	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94988	0.8378	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.91635	0.999;0.998;0.979	D	0.95163	0.8283	10	0.59425	D	0.04	.	18.5487	0.91056	0.0:0.0:1.0:0.0	.	1340;1341;1102	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	K	1341;1340;1220;1102;1165	ENSP00000429430:E1341K;ENSP00000438635:E1340K;ENSP00000428964:E1220K;ENSP00000427874:E1102K;ENSP00000384905:E1165K	ENSP00000384905:E1165K	E	+	1	0	ODZ2	167574798	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	9.813000	0.99286	2.368000	0.80403	0.655000	0.94253	GAA		0.557	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679		105	23	0	0	0	0.00361	0	105	23		
RANBP17	64901	broad.mit.edu	37	5	170319554	170319554	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:170319554C>G	ENST00000523189.1	+	4	584	c.420C>G	c.(418-420)ctC>ctG	p.L140L		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	140					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAAGTTTCTCCAGGTAAGAA	0.348			T	TRD@	ALL																																	uc003mba.2		NaN		Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				ovary(2)|central_nervous_system(1)	3						c.(418-420)CTC>CTG		RAN binding protein 17							152.0	149.0	150.0					5																	170319554		2203	4300	6503	SO:0001819	synonymous_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170319554C>G	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.420C>G	5.37:g.170319554C>G						RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA|RANBP17_uc003maw.2_Silent_p.L140L|RANBP17_uc011dew.1_Silent_p.L140L	p.L140L	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	436	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	140					Q8IU74	Silent	SNP	ENST00000523189.1	37	c.420C>G	CCDS34287.1																																																																																				0.348	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1		NM_022897		25	69	0	0	0	0.009535	0	25	69		
RANBP17	64901	broad.mit.edu	37	5	170610195	170610195	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:170610195G>A	ENST00000523189.1	+	17	2054	c.1890G>A	c.(1888-1890)gtG>gtA	p.V630V	RANBP17_ENST00000521759.1_Intron	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	630					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAAAACTTGTGAAGATAGATG	0.264			T	TRD@	ALL																																	uc003mba.2		NaN		Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				ovary(2)|central_nervous_system(1)	3						c.(1888-1890)GTG>GTA		RAN binding protein 17							38.0	42.0	40.0					5																	170610195		2200	4295	6495	SO:0001819	synonymous_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170610195G>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1890G>A	5.37:g.170610195G>A						RANBP17_uc003mbb.2_Intron|RANBP17_uc003mbd.2_5'UTR|RANBP17_uc010jjs.2_RNA|RANBP17_uc003mbc.2_5'UTR	p.V630V	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		17	1906	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	630					Q8IU74	Silent	SNP	ENST00000523189.1	37	c.1890G>A	CCDS34287.1																																																																																				0.264	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1		NM_022897		18	1	0	0	0	0.002299	0	18	1		
BMP6	654	broad.mit.edu	37	6	7727603	7727603	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:7727603C>T	ENST00000283147.6	+	1	574	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	139					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CATGCTGGATCTGTACAACGC	0.706																																						uc003mxu.3		NaN																	0				large_intestine(2)|ovary(1)	3						c.(415-417)CTG>TTG		bone morphogenetic protein 6 preproprotein																																				SO:0001819	synonymous_variant	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727603C>T	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.415C>T	6.37:g.7727603C>T							p.L139L	NM_001718	NP_001709	P22004	BMP6_HUMAN			1	593	+	Ovarian(93;0.0721)		139					Q5TCP3	Silent	SNP	ENST00000283147.6	37	c.415C>T	CCDS4503.1																																																																																				0.706	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1		NM_001718		19	55	0	0	0	0.012319	0	19	55		
BMP6	654	broad.mit.edu	37	6	7727750	7727750	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:7727750C>T	ENST00000283147.6	+	1	721	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	188					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CAAGAGCCTTCTGGCCCCCGG	0.711																																						uc003mxu.3		NaN																	0				large_intestine(2)|ovary(1)	3						c.(562-564)CTG>TTG		bone morphogenetic protein 6 preproprotein							8.0	10.0	9.0					6																	7727750		2068	4073	6141	SO:0001819	synonymous_variant	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727750C>T	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.562C>T	6.37:g.7727750C>T							p.L188L	NM_001718	NP_001709	P22004	BMP6_HUMAN			1	740	+	Ovarian(93;0.0721)		188					Q5TCP3	Silent	SNP	ENST00000283147.6	37	c.562C>T	CCDS4503.1																																																																																				0.711	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1		NM_001718		13	23	0	0	0	0.004007	0	13	23		
TXNDC5	81567	broad.mit.edu	37	6	7891866	7891866	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:7891866G>A	ENST00000379757.4	-	5	757	c.720C>T	c.(718-720)gtC>gtT	p.V240V	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000539054.1_Silent_p.V168V|TXNDC5_ENST00000473453.1_Silent_p.V132V	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	240	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TGCCAATCTTGACAGTTTCGG	0.493																																					Ovarian(119;1430 1625 3928 26125 34589)	uc003mxv.2		NaN																	0					0						c.(718-720)GTC>GTT		thioredoxin domain containing 5 isoform 1							86.0	83.0	84.0					6																	7891866		2203	4300	6503	SO:0001819	synonymous_variant	81567				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity	g.chr6:7891866G>A	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.720C>T	6.37:g.7891866G>A						TXNDC5_uc003mxw.2_Silent_p.V197V|TXNDC5_uc010jnz.2_Silent_p.V132V|TXNDC5_uc010joa.1_Silent_p.V132V	p.V240V	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN			5	752	-	Ovarian(93;0.0398)		240			Thioredoxin 2.		B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Silent	SNP	ENST00000379757.4	37	c.720C>T	CCDS4505.1																																																																																				0.493	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1		NM_030810		35	128	0	0	0	0.00623	0	35	128		
RANBP9	10048	broad.mit.edu	37	6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761																																						uc003nbb.2		NaN																	0				lung(1)|skin(1)	2						c.(28-30)CCG>CAG		RAN binding protein 9							4.0	5.0	5.0					6																	13711709		764	1870	2634	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13711709G>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.29C>A	6.37:g.13711709G>T	ENSP00000011619:p.Pro10Gln						p.P10Q	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		1	88	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	10			Poly-Pro.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.29C>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	g	8.018	0.759040	0.15846	.	.	ENSG00000010017	ENST00000011619;ENST00000283152	T	0.78003	-1.14	1.59	-3.18	0.05186	.	.	.	.	.	T	0.30198	0.0757	N	0.08118	0	0.21416	N	0.999694	B	0.18968	0.032	B	0.10450	0.005	T	0.18555	-1.0333	9	0.30854	T	0.27	.	5.1241	0.14875	0.0:0.0:0.4149:0.5851	.	10	Q96S59	RANB9_HUMAN	Q	10	ENSP00000011619:P10Q	ENSP00000011619:P10Q	P	-	2	0	RANBP9	13819688	0.000000	0.05858	0.967000	0.41034	0.688000	0.40055	-1.054000	0.03496	-0.053000	0.13289	0.154000	0.16183	CCG		0.761	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1				8	69	1	0	0.00448238	0.004482	0.00453746	8	69		
SOX4	6659	broad.mit.edu	37	6	21595158	21595158	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:21595158G>T	ENST00000244745.1	+	1	1187	c.393G>T	c.(391-393)agG>agT	p.R131S	SOX4_ENST00000543472.1_Missense_Mutation_p.R131S	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	131					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			ACCGGCCCAGGAAGAAGGTGA	0.642																																						uc003ndi.2		NaN																	0					0						c.(391-393)AGG>AGT		SRY (sex determining region Y)-box 4							21.0	26.0	25.0					6																	21595158		2202	4299	6501	SO:0001583	missense	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595158G>T	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.393G>T	6.37:g.21595158G>T	ENSP00000244745:p.Arg131Ser						p.R131S	NM_003107	NP_003098	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1187	+	Ovarian(93;0.163)		131						Missense_Mutation	SNP	ENST00000244745.1	37	c.393G>T	CCDS4547.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.175200	0.57692	.	.	ENSG00000124766	ENST00000244745;ENST00000543472	D;D	0.94092	-3.35;-3.35	4.47	2.63	0.31362	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);	0.000000	0.64402	U	0.000001	D	0.93501	0.7926	L	0.61218	1.895	0.53005	D	0.999964	D	0.76494	0.999	D	0.77004	0.989	D	0.92742	0.6209	10	0.87932	D	0	.	9.104	0.36687	0.1914:0.0:0.8086:0.0	.	131	Q06945	SOX4_HUMAN	S	131	ENSP00000244745:R131S;ENSP00000438412:R131S	ENSP00000244745:R131S	R	+	3	2	SOX4	21703137	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	4.209000	0.58493	0.294000	0.22547	0.305000	0.20034	AGG		0.642	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1		NM_003107		5	215	1	0	2.0095e-06	0.001984	2.06271e-06	5	215		
NRSN1	140767	broad.mit.edu	37	6	24145869	24145869	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:24145869G>A	ENST00000378491.4	+	4	584	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						AGCATTTGGCGAAGCCGATTT	0.507																																						uc010jpq.1		NaN																	0					0						c.(283-285)GAA>AAA		neurensin 1							99.0	93.0	95.0					6																	24145869		2203	4300	6503	SO:0001583	missense	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145869G>A	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.283G>A	6.37:g.24145869G>A	ENSP00000367752:p.Glu95Lys						p.E95K	NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN			4	520	+			95						Missense_Mutation	SNP	ENST00000378491.4	37	c.283G>A	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990408	0.35131	.	.	ENSG00000152954	ENST00000378491;ENST00000378477	T	0.18960	2.18	5.37	5.37	0.77165	.	0.095551	0.64402	D	0.000001	T	0.10508	0.0257	L	0.46157	1.445	0.80722	D	1	B	0.21309	0.054	B	0.12156	0.007	T	0.03025	-1.1081	10	0.41790	T	0.15	-7.9822	12.8894	0.58064	0.0846:0.0:0.9154:0.0	.	95	Q8IZ57	NRSN1_HUMAN	K	95	ENSP00000367752:E95K	ENSP00000367738:E95K	E	+	1	0	NRSN1	24253848	1.000000	0.71417	0.930000	0.37139	0.172000	0.22775	4.652000	0.61454	2.524000	0.85096	0.557000	0.71058	GAA		0.507	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1		NM_080723		47	208	0	0	0	0.00361	0	47	208		
HIST1H2BE	8344	broad.mit.edu	37	6	26184245	26184245	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:26184245C>T	ENST00000356530.3	+	1	288	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	74					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						TCGAGCGCATCGCCGGCGAGG	0.607																																						uc003ngt.2		NaN																	0					0						c.(220-222)ATC>ATT		histone cluster 1, H2be							115.0	113.0	114.0					6																	26184245		2203	4300	6503	SO:0001819	synonymous_variant	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184245C>T	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.222C>T	6.37:g.26184245C>T							p.I74I	NM_003523	NP_003514	P62807	H2B1C_HUMAN			1	222	+			74					P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000356530.3	37	c.222C>T	CCDS4588.1																																																																																				0.607	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1		NM_003523		292	26	0	0	0	0.00361	0	292	26		
BTN3A1	11119	broad.mit.edu	37	6	26408131	26408131	+	Missense_Mutation	SNP	C	C	G	rs140260146		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:26408131C>G	ENST00000289361.6	+	4	1034	c.666C>G	c.(664-666)atC>atG	p.I222M	BTN3A1_ENST00000414912.2_Missense_Mutation_p.I170M|BTN3A1_ENST00000425234.2_Missense_Mutation_p.I222M|BTN3A1_ENST00000476549.2_Missense_Mutation_p.I222M	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	222	Ig-like V-type 2.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCTGTACCATCAGAAGTTCCC	0.557																																						uc003nhv.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(664-666)ATC>ATG		butyrophilin, subfamily 3, member A1 isoform a							172.0	160.0	164.0					6																	26408131		2203	4300	6503	SO:0001583	missense	11119				lipid metabolic process	integral to membrane		g.chr6:26408131C>G	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.666C>G	6.37:g.26408131C>G	ENSP00000289361:p.Ile222Met					BTN3A1_uc011dkj.1_Missense_Mutation_p.I222M|BTN3A1_uc011dkk.1_Missense_Mutation_p.I170M|BTN3A1_uc010jqj.2_Missense_Mutation_p.I222M	p.I222M	NM_007048	NP_008979	O00481	BT3A1_HUMAN			4	1034	+			222			Ig-like V-type 2.|Extracellular (Potential).		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.666C>G	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	14.07	2.425260	0.43020	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234;ENST00000414912	T;T;T;T	0.53857	2.45;2.45;2.45;0.6	2.0	1.07	0.20283	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51736	0.1692	M	0.75264	2.295	0.09310	N	1	D;D;D;D	0.76494	0.988;0.999;0.997;0.994	P;D;D;D	0.69654	0.758;0.965;0.953;0.925	T	0.31888	-0.9927	9	0.54805	T	0.06	.	5.5714	0.17198	0.3253:0.6747:0.0:0.0	.	170;222;222;222	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	M	222;222;222;170	ENSP00000420010:I222M;ENSP00000289361:I222M;ENSP00000396684:I222M;ENSP00000406667:I170M	ENSP00000289361:I222M	I	+	3	3	BTN3A1	26516110	0.015000	0.18098	0.022000	0.16811	0.538000	0.34931	0.614000	0.24314	0.365000	0.24400	0.511000	0.50034	ATC		0.557	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3				221	16	0	0	0	0.00361	0	221	16		
BTN1A1	696	broad.mit.edu	37	6	26505305	26505305	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:26505305C>G	ENST00000244513.6	+	3	646	c.580C>G	c.(580-582)Cct>Gct	p.P194A		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	194	Ig-like V-type 2.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GTCCAGGAATCCTGATGAAGA	0.502																																						uc003nif.3		NaN																	0				ovary(1)|skin(1)	2						c.(580-582)CCT>GCT		butyrophilin, subfamily 1, member A1 precursor							117.0	116.0	116.0					6																	26505305		2203	4300	6503	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26505305C>G	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.580C>G	6.37:g.26505305C>G	ENSP00000244513:p.Pro194Ala						p.P194A	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			3	600	+			194			Extracellular (Potential).|Ig-like V-type 2.		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.580C>G	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.318422	0.00235	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.75050	-0.9	5.52	2.64	0.31445	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.510212	0.18500	N	0.139394	T	0.31949	0.0813	L	0.32530	0.975	0.09310	N	1	B	0.14012	0.009	B	0.16289	0.015	T	0.30880	-0.9963	10	0.02654	T	1	.	7.9493	0.30006	0.0:0.6114:0.3031:0.0855	.	194	Q13410	BT1A1_HUMAN	A	194	ENSP00000244513:P194A	ENSP00000244513:P194A	P	+	1	0	BTN1A1	26613284	0.006000	0.16342	0.052000	0.19188	0.122000	0.20287	2.127000	0.42035	0.629000	0.30376	0.655000	0.94253	CCT		0.502	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1		NM_001732		88	6	0	0	0	0.00361	0	88	6		
HIST1H4I	8294	broad.mit.edu	37	6	27107240	27107240	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:27107240C>G	ENST00000354348.2	+	1	165	c.153C>G	c.(151-153)atC>atG	p.I51M	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	51					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(1)	1						CTGGCCTCATCTATGAGGAGA	0.637			T	BCL6	NHL																																	uc003niy.1		NaN		Dom	yes		6	6p21.3	8294	T	"""histone 1, H4i (H4FM)"""			L	BCL6		NHL		0				lung(1)	1						c.(151-153)ATC>ATG		histone cluster 1, H4i							67.0	67.0	67.0					6																	27107240		2203	4300	6503	SO:0001583	missense	8294				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27107240C>G	AB000905	CCDS4620.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198339	ENSG00000276180		"""Histones / Replication-dependent"""	4793	protein-coding gene	gene with protein product		602833	"""H4 histone family, member M"", ""histone 1, H4i"""	H4FM		8988030, 9439656, 12408966	Standard	NM_003495		Approved	H4/m	uc003niy.1	P62805	OTTHUMG00000014471	ENST00000354348.2:c.153C>G	6.37:g.27107240C>G	ENSP00000346316:p.Ile51Met					HIST1H2BK_uc003nix.1_Intron	p.I51M	NM_003495	NP_003486	P62805	H4_HUMAN			1	153	+			51					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000354348.2	37	c.153C>G	CCDS4620.1	.	.	.	.	.	.	.	.	.	.	.	18.20	3.570795	0.65765	.	.	ENSG00000198339	ENST00000354348	T	0.68181	-0.31	3.8	2.93	0.34026	.	0.000000	0.40818	U	0.001002	T	0.78635	0.4314	H	0.94306	3.52	0.44603	D	0.997571	.	.	.	.	.	.	T	0.81805	-0.0764	8	0.59425	D	0.04	.	9.9013	0.41348	0.0:0.8932:0.0:0.1068	.	.	.	.	M	51	ENSP00000346316:I51M	ENSP00000346316:I51M	I	+	3	3	HIST1H4I	27215219	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	2.147000	0.42226	0.898000	0.36418	-0.150000	0.13652	ATC		0.637	HIST1H4I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040139.1		NM_003495		185	141	0	0	0	0.00361	0	185	141		
PRRC2A	7916	broad.mit.edu	37	6	31591626	31591626	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:31591626C>T	ENST00000376033.2	+	3	464	c.230C>T	c.(229-231)tCa>tTa	p.S77L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.S77L|SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000469577.1_Intron	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	77	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCAATGTCTCACTAGTGCCA	0.547																																						uc003nvb.3		NaN																	0					0						c.(229-231)TCA>TTA		HLA-B associated transcript-2							99.0	81.0	87.0					6																	31591626		2203	4300	6503	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31591626C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.230C>T	6.37:g.31591626C>T	ENSP00000365201:p.Ser77Leu					BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.S77L|BAT2_uc003nve.2_5'Flank	p.S77L	NM_080686	NP_542417	P48634	PRC2A_HUMAN			3	479	+			77			4 X 57 AA type A repeats.|1-1.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.230C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003674	0.54254	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.21932	1.98;1.98	5.2	5.2	0.72013	BAT2, N-terminal (1);	0.000000	0.42172	D	0.000742	T	0.14485	0.0350	L	0.46157	1.445	0.52501	D	0.999952	P	0.39094	0.659	B	0.37833	0.259	T	0.02385	-1.1167	10	0.87932	D	0	-8.6736	17.6699	0.88213	0.0:1.0:0.0:0.0	.	77	P48634	PRC2A_HUMAN	L	77	ENSP00000365175:S77L;ENSP00000365201:S77L	ENSP00000365175:S77L	S	+	2	0	PRRC2A	31699605	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.912000	0.48782	2.699000	0.92147	0.655000	0.94253	TCA		0.547	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1		NM_080686		19	89	0	0	0	0.004656	0	19	89		
PHF1	5252	broad.mit.edu	37	6	33380128	33380128	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:33380128C>T	ENST00000374516.3	+	2	359	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	PHF1_ENST00000459809.1_3'UTR|PHF1_ENST00000374512.3_Missense_Mutation_p.R30W	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	30	Tudor.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCCCAGGCCTCGGCTTTGGGA	0.607																																						uc003oeh.2		NaN																	0					0						c.(88-90)CGG>TGG		PHD finger protein 1 isoform b							55.0	55.0	55.0					6																	33380128		2203	4300	6503	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33380128C>T	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.88C>T	6.37:g.33380128C>T	ENSP00000363640:p.Arg30Trp					PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Missense_Mutation_p.R30W|PHF1_uc010jux.2_5'UTR	p.R30W	NM_024165	NP_077084	O43189	PHF1_HUMAN			2	324	+		Ovarian(999;0.0443)	30					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.88C>T	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232581	0.79688	.	.	ENSG00000112511	ENST00000427004;ENST00000428274;ENST00000374512;ENST00000374516	T;T;T;T	0.33438	1.41;1.43;1.79;1.81	5.0	5.0	0.66597	Tudor domain (1);	0.000000	0.64402	D	0.000006	T	0.39963	0.1098	L	0.43152	1.355	0.46298	D	0.998972	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.973	T	0.25984	-1.0116	10	0.87932	D	0	-12.0275	15.8369	0.78805	0.0:1.0:0.0:0.0	.	30;30	O43189-2;O43189	.;PHF1_HUMAN	W	30	ENSP00000410494:R30W;ENSP00000392697:R30W;ENSP00000363636:R30W;ENSP00000363640:R30W	ENSP00000363636:R30W	R	+	1	2	PHF1	33488106	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.729000	0.54999	2.606000	0.88127	0.563000	0.77884	CGG		0.607	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3				28	7	0	0	0	0.002836	0	28	7		
FGD2	221472	broad.mit.edu	37	6	36982667	36982667	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:36982667G>A	ENST00000274963.8	+	8	1053		c.e8-1			NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CAACCCCCTAGGAGCGGCTGC	0.652																																						uc010jwp.1		NaN																	0				upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						c.e8-1		FYVE, RhoGEF and PH domain containing 2							44.0	43.0	44.0					6																	36982667		2203	4300	6503	SO:0001630	splice_region_variant	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36982667G>A	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.883-1G>A	6.37:g.36982667G>A						FGD2_uc003ong.2_Splice_Site_p.E17_splice|FGD2_uc011dtv.1_Splice_Site|FGD2_uc003oni.1_Splice_Site_p.E101_splice	p.E295_splice	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN			8	1054	+								Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Splice_Site	SNP	ENST00000274963.8	37	c.883_splice	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267291	0.59540	.	.	ENSG00000146192	ENST00000274963	.	.	.	3.95	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9029	0.63817	0.0:0.1547:0.8453:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FGD2	37090645	1.000000	0.71417	0.997000	0.53966	0.904000	0.53231	9.399000	0.97285	1.197000	0.43143	0.561000	0.74099	.		0.652	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2		NM_173558	Intron	24	292	0	0	0	0.007291	0	24	292		
CYP39A1	51302	broad.mit.edu	37	6	46593206	46593206	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:46593206C>T	ENST00000275016.2	-	7	1083	c.880G>A	c.(880-882)Gat>Aat	p.D294N		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	294					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TTGTGGATATCAGGATGAGAA	0.343																																						uc003oyf.1		NaN																	0				ovary(1)	1						c.(880-882)GAT>AAT		cytochrome P450, family 39, subfamily A,							142.0	135.0	137.0					6																	46593206		2203	4300	6503	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46593206C>T	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.880G>A	6.37:g.46593206C>T	ENSP00000275016:p.Asp294Asn					CYP39A1_uc011dwa.1_Missense_Mutation_p.D274N|CYP39A1_uc010jzd.1_Missense_Mutation_p.D122N	p.D294N	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN			7	1084	-			294					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.880G>A	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	C	0.313	-0.966673	0.02232	.	.	ENSG00000146233	ENST00000275016	D	0.86497	-2.13	5.2	-0.0724	0.13739	.	1.175600	0.06333	N	0.706511	T	0.57066	0.2028	N	0.20685	0.6	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.44590	-0.9318	10	0.36615	T	0.2	-1.1512	3.2917	0.06952	0.2288:0.3636:0.0:0.4076	.	274;294	B7Z786;Q9NYL5	.;CP39A_HUMAN	N	294	ENSP00000275016:D294N	ENSP00000275016:D294N	D	-	1	0	CYP39A1	46701165	0.000000	0.05858	0.023000	0.16930	0.018000	0.09664	-0.088000	0.11198	0.063000	0.16370	-0.378000	0.06908	GAT		0.343	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1				142	112	0	0	0	0.00361	0	142	112		
PLA2G7	7941	broad.mit.edu	37	6	46682224	46682224	+	Missense_Mutation	SNP	A	A	G	rs201022799		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:46682224A>G	ENST00000274793.7	-	5	639	c.443T>C	c.(442-444)gTt>gCt	p.V148A	PLA2G7_ENST00000537365.1_Missense_Mutation_p.V148A|PLA2G7_ENST00000538237.1_Missense_Mutation_p.V103A|PLA2G7_ENST00000541026.1_Missense_Mutation_p.V21A	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	148					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			ATGAGAAAAAACAACAAGTGG	0.368																																						uc010jzf.2		NaN																	0					0						c.(442-444)GTT>GCT		phospholipase A2, group VII							113.0	111.0	112.0					6																	46682224		2203	4300	6503	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46682224A>G	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.443T>C	6.37:g.46682224A>G	ENSP00000274793:p.Val148Ala					PLA2G7_uc010jzg.1_Missense_Mutation_p.V148A|PLA2G7_uc011dwd.1_Missense_Mutation_p.V103A|PLA2G7_uc011dwe.1_Missense_Mutation_p.V21A	p.V148A	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Lung(136;0.192)		5	712	-			148					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.443T>C	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698563	0.88830	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.91	5.91	0.95273	.	0.472072	0.24823	N	0.035302	T	0.63486	0.2515	M	0.82923	2.615	0.41532	D	0.988463	P;P;P;P	0.50272	0.933;0.734;0.887;0.887	P;P;P;P	0.50860	0.55;0.652;0.583;0.583	T	0.71800	-0.4483	10	0.87932	D	0	.	14.5903	0.68359	1.0:0.0:0.0:0.0	.	21;103;148;148	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	A	148;148;103;21	ENSP00000274793:V148A;ENSP00000445666:V148A;ENSP00000441416:V103A;ENSP00000444164:V21A	ENSP00000274793:V148A	V	-	2	0	PLA2G7	46790183	1.000000	0.71417	0.520000	0.27837	0.954000	0.61252	8.744000	0.91596	2.259000	0.74868	0.528000	0.53228	GTT		0.368	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1				58	477	0	0	0	0.00361	0	58	477		
KLHL31	401265	broad.mit.edu	37	6	53516582	53516582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:53516582C>T	ENST00000407079.1	-	2	1718	c.1719G>A	c.(1717-1719)tgG>tgA	p.W573*	KLHL31_ENST00000370905.3_Nonsense_Mutation_p.W573*			Q9H511	KLH31_HUMAN	kelch-like family member 31	573					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CGCCCTCGTTCCAGCCCCCCA	0.687																																						uc003pcb.3		NaN																	0				ovary(1)	1						c.(1717-1719)TGG>TGA		kelch repeat and BTB (POZ) domain containing 1							68.0	62.0	64.0					6																	53516582		2203	4300	6503	SO:0001587	stop_gained	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53516582C>T		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1719G>A	6.37:g.53516582C>T	ENSP00000384644:p.Trp573*					uc003pcc.1_5'UTR	p.W573*	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN			3	1860	-	Lung NSC(77;0.0158)		573			Kelch 6.		A6N9J2|B2RP49	Nonsense_Mutation	SNP	ENST00000407079.1	37	c.1719G>A	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	C	38	6.743700	0.97805	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	20.3473	0.98799	0.0:1.0:0.0:0.0	.	.	.	.	X	573	.	ENSP00000359942:W573X	W	-	3	0	KLHL31	53624541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.061000	0.71148	2.884000	0.98904	0.655000	0.94253	TGG		0.687	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1		NM_001003760		15	41	0	0	0	0.004007	0	15	41		
KLHL31	401265	broad.mit.edu	37	6	53516760	53516760	+	Missense_Mutation	SNP	C	C	G	rs200137077	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:53516760C>G	ENST00000407079.1	-	2	1540	c.1541G>C	c.(1540-1542)aGa>aCa	p.R514T	KLHL31_ENST00000370905.3_Missense_Mutation_p.R514T			Q9H511	KLH31_HUMAN	kelch-like family member 31	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CACGTACACTCTGTCGCTCAG	0.716													C|||	4	0.000798722	0.0	0.0	5008	,	,		13502	0.0		0.004	False		,,,				2504	0.0					uc003pcb.3		NaN																	0				ovary(1)	1						c.(1540-1542)AGA>ACA		kelch repeat and BTB (POZ) domain containing 1		C	THR/ARG	3,4267		0,3,2132	7.0	8.0	8.0		1541	5.4	1.0	6		8	14,8412		0,14,4199	yes	missense	KLHL31	NM_001003760.4	71	0,17,6331	GG,GC,CC		0.1662,0.0703,0.1339	possibly-damaging	514/635	53516760	17,12679	2135	4213	6348	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53516760C>G		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1541G>C	6.37:g.53516760C>G	ENSP00000384644:p.Arg514Thr					uc003pcc.1_Missense_Mutation_p.S51C	p.R514T	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN			3	1682	-	Lung NSC(77;0.0158)		514					A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.1541G>C	CCDS34478.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	19.78	3.892036	0.72524	7.03E-4	0.001662	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.78126	-1.15;-1.15	5.4	5.4	0.78164	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.68586	0.3017	M	0.71036	2.16	0.52501	D	0.999953	B	0.27166	0.17	B	0.34038	0.174	T	0.65825	-0.6074	10	0.23302	T	0.38	.	13.8157	0.63290	0.0:0.9264:0.0:0.0735	.	514	Q9H511	KLH31_HUMAN	T	514	ENSP00000359942:R514T;ENSP00000384644:R514T	ENSP00000359942:R514T	R	-	2	0	KLHL31	53624719	0.999000	0.42202	0.965000	0.40720	0.971000	0.66376	4.021000	0.57196	2.688000	0.91661	0.655000	0.94253	AGA		0.716	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1		NM_001003760		3	10	0	0	0	0.000602	0	3	10		
DST	667	broad.mit.edu	37	6	56505039	56505039	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:56505039G>T	ENST00000361203.3	-	14	1766	c.1759C>A	c.(1759-1761)Ccc>Acc	p.P587T	DST_ENST00000370769.4_Missense_Mutation_p.P587T|DST_ENST00000312431.6_Missense_Mutation_p.P587T|DST_ENST00000370754.5_Missense_Mutation_p.P765T|DST_ENST00000518935.1_Missense_Mutation_p.P261T|DST_ENST00000370788.2_Missense_Mutation_p.P587T|DST_ENST00000244364.6_Missense_Mutation_p.P261T|DST_ENST00000446842.2_Missense_Mutation_p.P261T|DST_ENST00000421834.2_Missense_Mutation_p.P587T|DST_ENST00000370765.6_Missense_Mutation_p.P261T			Q03001	DYST_HUMAN	dystonin	587					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTAGAAGGGGTTTTCGGATC	0.368																																						uc003pdf.2		NaN																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(2293-2295)CCC>ACC		dystonin isoform 2							56.0	59.0	58.0					6																	56505039		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56505039G>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1759C>A	6.37:g.56505039G>T	ENSP00000354508:p.Pro587Thr					DST_uc003pcz.3_Missense_Mutation_p.P587T|DST_uc011dxj.1_Missense_Mutation_p.P616T|DST_uc011dxk.1_Missense_Mutation_p.P627T|DST_uc011dxl.1_Missense_Mutation_p.P616T|DST_uc003pcy.3_Missense_Mutation_p.P261T|DST_uc003pdb.2_Missense_Mutation_p.P261T|DST_uc003pdc.3_Missense_Mutation_p.P261T|DST_uc003pdd.3_Missense_Mutation_p.P261T|DST_uc003pde.2_Missense_Mutation_p.P703T	p.P765T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		17	2321	-	Lung NSC(77;0.103)		587					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.2293C>A		.	.	.	.	.	.	.	.	.	.	G	23.4	4.413997	0.83449	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8	5.51	5.51	0.81932	.	0.000000	0.46145	D	0.000307	D	0.98789	0.9592	M	0.73962	2.25	0.34744	D	0.731021	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.997;0.998;0.997;0.998;0.999;1.0;1.0;0.997;0.998;1.0	D	0.98920	1.0783	9	0.45353	T	0.12	.	19.427	0.94746	0.0:0.0:1.0:0.0	.	616;587;587;765;703;261;261;261;587;261	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	T	261;765;587;587;261;587;587;587;261;627;261;261	ENSP00000244364:P261T;ENSP00000359790:P765T;ENSP00000359805:P587T;ENSP00000400883:P587T;ENSP00000393645:P261T;ENSP00000307959:P587T;ENSP00000359824:P587T;ENSP00000354508:P587T;ENSP00000404924:P261T;ENSP00000431030:P627T;ENSP00000359801:P261T;ENSP00000431003:P261T	ENSP00000244364:P261T	P	-	1	0	DST	56612998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.603000	0.88011	0.655000	0.94253	CCC		0.368	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723		7	35	1	0	8.12818e-05	0.001984	8.31751e-05	7	35		
DST	667	broad.mit.edu	37	6	56716381	56716381	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:56716381G>C	ENST00000370754.5	-	4	438	c.439C>G	c.(439-441)Cgc>Ggc	p.R147G	RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin	0	Actin-binding.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATAGAGCAGCGATAGGACGCG	0.478											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003pdf.2		NaN																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(439-441)CGC>GGC		dystonin isoform 2							48.0	46.0	46.0					6																	56716381		1568	3582	5150	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56716381G>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370754.5:c.439C>G	6.37:g.56716381G>C	ENSP00000359790:p.Arg147Gly		OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1017	DST_uc011dxj.1_Translation_Start_Site|DST_uc011dxk.1_Missense_Mutation_p.R9G|DST_uc011dxl.1_Translation_Start_Site	p.R147G	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		4	467	-	Lung NSC(77;0.103)		Error:Variant_position_missing_in_Q03001_after_alignment					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370754.5	37	c.439C>G		.	.	.	.	.	.	.	.	.	.	G	16.55	3.154298	0.57259	.	.	ENSG00000151914	ENST00000370754;ENST00000520645;ENST00000449297	T;D;D	0.96427	-1.28;-2.22;-4.01	5.76	5.76	0.90799	.	.	.	.	.	D	0.96346	0.8808	.	.	.	0.21416	N	0.999693	D	0.58620	0.983	P	0.52514	0.701	D	0.96661	0.9489	7	0.72032	D	0.01	.	15.5621	0.76256	0.0:0.0:0.8615:0.1385	.	147	E9PEB9	.	G	147;9;147	ENSP00000359790:R147G;ENSP00000431030:R9G;ENSP00000393082:R147G	ENSP00000359790:R147G	R	-	1	0	DST	56824340	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.375000	0.79646	2.728000	0.93425	0.655000	0.94253	CGC		0.478	DST-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_001723		6	13	0	0	0	0.004482	0	6	13		
PHF3	23469	broad.mit.edu	37	6	64416024	64416024	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:64416024C>T	ENST00000262043.3	+	12	3813	c.3473C>T	c.(3472-3474)gCa>gTa	p.A1158V	PHF3_ENST00000393387.1_Missense_Mutation_p.A1158V			Q92576	PHF3_HUMAN	PHD finger protein 3	1158					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATAGCAGATGCATTATCTTCA	0.398																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(3472-3474)GCA>GTA		PHD finger protein 3							110.0	101.0	104.0					6																	64416024		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64416024C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3473C>T	6.37:g.64416024C>T	ENSP00000262043:p.Ala1158Val					PHF3_uc010kah.1_Missense_Mutation_p.A972V|PHF3_uc003pen.2_Missense_Mutation_p.A1070V|PHF3_uc011dxs.1_Missense_Mutation_p.A427V	p.A1158V	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		11	3499	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1158					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3473C>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896898	0.52121	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.50001	1.99;0.76;2.05;2.05	5.79	5.79	0.91817	.	0.000000	0.36034	N	0.002838	T	0.60689	0.2288	L	0.57536	1.79	0.54753	D	0.999989	D	0.89917	1.0	D	0.68765	0.96	T	0.59279	-0.7484	10	0.54805	T	0.06	-19.1293	20.0411	0.97590	0.0:1.0:0.0:0.0	.	1158	Q92576	PHF3_HUMAN	V	972;427;1158;1158	ENSP00000424694:A972V;ENSP00000425338:A427V;ENSP00000262043:A1158V;ENSP00000377048:A1158V	ENSP00000262043:A1158V	A	+	2	0	PHF3	64473983	1.000000	0.71417	0.974000	0.42286	0.229000	0.25112	6.031000	0.70911	2.739000	0.93911	0.655000	0.94253	GCA		0.398	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2				12	27	0	0	0	0.001368	0	12	27		
BAI3	577	broad.mit.edu	37	6	70034888	70034888	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:70034888G>A	ENST00000370598.1	+	21	3760	c.2939G>A	c.(2938-2940)aGa>aAa	p.R980K	BAI3_ENST00000238918.8_Missense_Mutation_p.R186K	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	980					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CGGCTTATAAGAAAACGCTTT	0.398																																						uc003pev.3		NaN																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(2938-2940)AGA>AAA		brain-specific angiogenesis inhibitor 3							191.0	183.0	185.0					6																	70034888		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70034888G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2939G>A	6.37:g.70034888G>A	ENSP00000359630:p.Arg980Lys					BAI3_uc010kak.2_Missense_Mutation_p.R980K|BAI3_uc011dxx.1_Missense_Mutation_p.R186K|BAI3_uc003pex.1_Missense_Mutation_p.R110K	p.R980K	NM_001704	NP_001695	O60242	BAI3_HUMAN			21	3387	+		all_lung(197;0.212)	980			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2939G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	36	5.614979	0.96649	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.37235	1.21;1.21	6.07	6.07	0.98685	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	L	0.35723	1.085	0.80722	D	1	D;P;D	0.76494	0.979;0.92;0.999	D;D;D	0.83275	0.982;0.946;0.996	T	0.35773	-0.9775	10	0.56958	D	0.05	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	186;980;980	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	K	980;186	ENSP00000359630:R980K;ENSP00000238918:R186K	ENSP00000238918:R186K	R	+	2	0	BAI3	70091609	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.835000	0.99442	2.885000	0.99019	0.655000	0.94253	AGA		0.398	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1				17	50	0	0	0	0.008871	0	17	50		
KCNQ5	56479	broad.mit.edu	37	6	73904395	73904395	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:73904395G>A	ENST00000370398.1	+	14	2166	c.2057G>A	c.(2056-2058)aGa>aAa	p.R686K	KCNQ5_ENST00000342056.2_Missense_Mutation_p.R705K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R576K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R686K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R677K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R687K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R696K	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	686					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	AACATCTCGAGAGGCCTGCAG	0.488																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2		NaN																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(2056-2058)AGA>AAA		potassium voltage-gated channel, KQT-like							117.0	119.0	119.0					6																	73904395		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904395G>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2057G>A	6.37:g.73904395G>A	ENSP00000359425:p.Arg686Lys					KCNQ5_uc011dyh.1_Missense_Mutation_p.R705K|KCNQ5_uc011dyi.1_Missense_Mutation_p.R696K|KCNQ5_uc010kat.2_Missense_Mutation_p.R677K|KCNQ5_uc011dyj.1_Missense_Mutation_p.R576K|KCNQ5_uc011dyk.1_Missense_Mutation_p.R436K	p.R686K	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	14	2404	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	686					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.2057G>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029373	0.54790	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99445	-5.65;-5.65;-5.65;-5.65;-5.66;-5.69;-5.91	5.32	5.32	0.75619	.	0.075966	0.52532	D	0.000067	D	0.98798	0.9595	M	0.61703	1.905	0.31351	N	0.682506	D;P;B;P;P	0.54047	0.964;0.657;0.394;0.68;0.47	P;P;B;B;B	0.52758	0.708;0.511;0.157;0.356;0.197	D	0.99194	1.0871	10	0.22706	T	0.39	.	18.9881	0.92780	0.0:0.0:1.0:0.0	.	576;696;705;677;686	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	K	705;705;686;686;696;687;677;576	ENSP00000345055:R705K;ENSP00000347326:R686K;ENSP00000359425:R686K;ENSP00000385501:R696K;ENSP00000347853:R687K;ENSP00000384453:R677K;ENSP00000409861:R576K	ENSP00000345055:R705K	R	+	2	0	KCNQ5	73961116	1.000000	0.71417	0.350000	0.25708	0.868000	0.49771	9.193000	0.94954	2.486000	0.83907	0.561000	0.74099	AGA		0.488	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3		NM_019842		71	70	0	0	0	0.00361	0	71	70		
DDX43	55510	broad.mit.edu	37	6	74119057	74119057	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:74119057G>A	ENST00000370336.4	+	10	1424	c.1266G>A	c.(1264-1266)caG>caA	p.Q422Q	DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	422	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CAGATAGGCAGACAGTTATGA	0.383																																						uc003pgw.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1264-1266)CAG>CAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							196.0	180.0	186.0					6																	74119057		2203	4300	6503	SO:0001819	synonymous_variant	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74119057G>A		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1266G>A	6.37:g.74119057G>A							p.Q422Q	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN			10	1610	+			422			Helicase ATP-binding.		B4E0C8|Q6NXR1	Silent	SNP	ENST00000370336.4	37	c.1266G>A	CCDS4977.1																																																																																				0.383	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3		NM_018665		47	138	0	0	0	0.00361	0	47	138		
LCA5	167691	broad.mit.edu	37	6	80223183	80223183	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:80223183C>T	ENST00000392959.1	-	4	1077	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	LCA5_ENST00000369846.4_Missense_Mutation_p.E156K|LCA5_ENST00000467898.3_Missense_Mutation_p.E156K	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	156					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TGTGAGATTTCATTTTCGGCA	0.378																																						uc003pix.2		NaN																	0					0						c.(466-468)GAA>AAA		Leber congenital amaurosis 5							119.0	113.0	115.0					6																	80223183		2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80223183C>T		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.466G>A	6.37:g.80223183C>T	ENSP00000376686:p.Glu156Lys					LCA5_uc003piy.2_Missense_Mutation_p.E156K|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.E156K	p.E156K	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	3	901	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	156			Potential.		E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.466G>A	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.058840	0.76074	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.80304	-1.36;-1.36	6.07	4.23	0.50019	.	0.168937	0.50627	D	0.000105	D	0.86058	0.5842	M	0.71036	2.16	0.49051	D	0.999742	D;D	0.89917	0.979;1.0	P;D	0.83275	0.85;0.996	D	0.88120	0.2831	10	0.87932	D	0	-15.5572	15.8518	0.78937	0.0:0.7434:0.2566:0.0	.	156;156	B4DRL2;Q86VQ0	.;LCA5_HUMAN	K	156	ENSP00000358861:E156K;ENSP00000376686:E156K	ENSP00000358861:E156K	E	-	1	0	LCA5	80279902	1.000000	0.71417	0.998000	0.56505	0.786000	0.44442	3.514000	0.53422	0.818000	0.34468	0.655000	0.94253	GAA		0.378	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1		NM_181714		18	16	0	0	0	0.012319	0	18	16		
SLC35A1	10559	broad.mit.edu	37	6	88210332	88210332	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:88210332C>G	ENST00000369552.4	+	3	328	c.301C>G	c.(301-303)Cag>Gag	p.Q101E	SLC35A1_ENST00000544441.1_Intron|SLC35A1_ENST00000369557.5_Missense_Mutation_p.Q101E|SLC35A1_ENST00000369556.3_Missense_Mutation_p.Q101E|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000464978.1_3'UTR	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	101					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|CMP-N-acetylneuraminate transport (GO:0015782)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	CMP-N-acetylneuraminate transmembrane transporter activity (GO:0005456)|sugar:proton symporter activity (GO:0005351)			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTATGCTGTTCAGAACAACAT	0.413																																					NSCLC(183;214 2117 17033 22638 44782)|Ovarian(87;1008 1343 9644 42916 50932)	uc011dzj.1		NaN																	0					0						c.(301-303)CAG>GAG		solute carrier family 35 (CMP-sialic acid							114.0	101.0	105.0					6																	88210332		2203	4300	6503	SO:0001583	missense	10559				carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr6:88210332C>G	D87969	CCDS5010.1, CCDS55043.1	6q15	2013-05-22			ENSG00000164414	ENSG00000164414		"""Solute carriers"""	11021	protein-coding gene	gene with protein product		605634	"""solute carrier family 35 (UDP-galactose transporter), member 1"""			9010752, 9644260	Standard	NM_006416		Approved	CMPST, hCST	uc011dzj.2	P78382	OTTHUMG00000015177	ENST00000369552.4:c.301C>G	6.37:g.88210332C>G	ENSP00000358565:p.Gln101Glu					SLC35A1_uc003plx.2_RNA|SLC35A1_uc010kbw.2_5'UTR|SLC35A1_uc003plz.2_Intron|SLC35A1_uc011dzi.1_Intron|SLC35A1_uc003ply.2_RNA|SLC35A1_uc010kbx.2_Missense_Mutation_p.Q101E|SLC35A1_uc010kby.2_RNA	p.Q101E	NM_006416	NP_006407	P78382	S35A1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	3	380	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	101			Helical; (Potential).		Q5W1L8	Missense_Mutation	SNP	ENST00000369552.4	37	c.301C>G	CCDS5010.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787217	0.90367	.	.	ENSG00000164414	ENST00000369556;ENST00000369552;ENST00000429605;ENST00000369557;ENST00000369544	T;T;T	0.51574	0.7;0.7;0.7	5.63	5.63	0.86233	.	0.000000	0.85682	U	0.000000	T	0.70395	0.3219	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	T	0.73949	-0.3821	10	0.87932	D	0	-20.6419	20.047	0.97613	0.0:1.0:0.0:0.0	.	101;101	P78382;Q5W1L8	S35A1_HUMAN;.	E	101;101;101;101;82	ENSP00000358569:Q101E;ENSP00000358565:Q101E;ENSP00000358570:Q101E	ENSP00000358557:Q82E	Q	+	1	0	SLC35A1	88267051	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.445000	0.80570	2.821000	0.97095	0.555000	0.69702	CAG		0.413	SLC35A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041446.1				30	23	0	0	0	0.004289	0	30	23		
RARS2	57038	broad.mit.edu	37	6	88299660	88299660	+	Missense_Mutation	SNP	G	G	A	rs201899366	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:88299660G>A	ENST00000369536.5	-	1	61	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	ORC3_ENST00000417380.2_5'Flank|ORC3_ENST00000546266.1_5'Flank|ORC3_ENST00000392844.3_5'Flank|ORC3_ENST00000257789.4_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	6					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R6C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATAGCGCGGCGAAAGCCGCAC	0.672											OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	G|||	2	0.000399361	0.0	0.0014	5008	,	,		12638	0.001		0.0	False		,,,				2504	0.0					uc003pme.2		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(2)|central_nervous_system(1)	3						c.(16-18)CGC>TGC		arginyl-tRNA synthetase 2, mitochondrial							26.0	32.0	30.0					6																	88299660		2202	4300	6502	SO:0001583	missense	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88299660G>A	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.16C>T	6.37:g.88299660G>A	ENSP00000358549:p.Arg6Cys		OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	1258	ORC3L_uc011dzl.1_5'Flank|ORC3L_uc011dzm.1_5'Flank|ORC3L_uc011dzn.1_5'Flank|ORC3L_uc003pmg.2_5'Flank|ORC3L_uc003pmh.2_5'Flank|ORC3L_uc003pmi.2_5'Flank|ORC3L_uc011dzo.1_5'Flank|ORC3L_uc011dzp.1_5'Flank|RARS2_uc003pmb.2_5'UTR|RARS2_uc003pmc.2_5'UTR|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA	p.R6C	NM_020320	NP_064716	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	1	76	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	6					B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	c.16C>T	CCDS5011.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.34	3.364729	0.61513	.	.	ENSG00000146282	ENST00000369536	T	0.73897	-0.79	5.11	5.11	0.69529	Arginyl tRNA synthetase, class Ia, N-terminal (2);	0.101495	0.64402	D	0.000003	T	0.70753	0.3260	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	P	0.50231	0.635	T	0.75277	-0.3374	10	0.87932	D	0	.	14.2251	0.65853	0.0:0.0:1.0:0.0	.	6	Q5T160	SYRM_HUMAN	C	6	ENSP00000358549:R6C	ENSP00000358549:R6C	R	-	1	0	RARS2	88356379	1.000000	0.71417	0.978000	0.43139	0.031000	0.12232	2.529000	0.45632	2.826000	0.97356	0.655000	0.94253	CGC		0.672	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1		NM_020320		45	25	0	0	0	0.00361	0	45	25		
GJA10	84694	broad.mit.edu	37	6	90605283	90605283	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:90605283C>G	ENST00000369352.1	+	1	1096	c.1096C>G	c.(1096-1098)Cag>Gag	p.Q366E	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	403					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TACAATGTCTCAGTCCTGGCT	0.552																																						uc011eaa.1		NaN																	0					0						c.(1096-1098)CAG>GAG		gap junction protein, alpha 10							113.0	105.0	108.0					6																	90605283		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90605283C>G	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1096C>G	6.37:g.90605283C>G	ENSP00000358358:p.Gln366Glu						p.Q366E	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	1096	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	366			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.1096C>G	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474362	0.26423	.	.	ENSG00000135355	ENST00000369352	D	0.97665	-4.48	5.3	2.4	0.29515	.	0.763973	0.11651	N	0.542779	D	0.89114	0.6623	L	0.53249	1.67	0.09310	N	1	P	0.43094	0.799	B	0.30179	0.112	T	0.82723	-0.0316	10	0.41790	T	0.15	.	7.3648	0.26766	0.1397:0.7026:0.0:0.1577	.	366	Q969M2	CXA10_HUMAN	E	366	ENSP00000358358:Q366E	ENSP00000358358:Q366E	Q	+	1	0	GJA10	90662004	0.000000	0.05858	0.733000	0.30861	0.570000	0.35934	0.549000	0.23329	1.383000	0.46405	0.563000	0.77884	CAG		0.552	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1		NM_032602		95	65	0	0	0	0.00361	0	95	65		
BACH2	60468	broad.mit.edu	37	6	90661329	90661329	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:90661329C>T	ENST00000257749.4	-	7	1203	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.E166K|BACH2_ENST00000343122.3_Missense_Mutation_p.E166K|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	166	Poly-Glu.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCCTCCTCTTCATCCTCCTCC	0.612																																						uc011eab.1		NaN																	0				ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(496-498)GAA>AAA		BTB and CNC homology 1, basic leucine zipper							109.0	107.0	108.0					6																	90661329		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90661329C>T	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.496G>A	6.37:g.90661329C>T	ENSP00000257749:p.Glu166Lys					BACH2_uc003pnw.2_Missense_Mutation_p.E166K|BACH2_uc010kch.2_Missense_Mutation_p.E166K	p.E166K	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	1305	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	166			Poly-Glu.		E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.496G>A	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.746452	0.00669	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.38077	1.16;1.16;1.16	5.0	4.13	0.48395	.	0.487586	0.24377	N	0.039053	T	0.07188	0.0182	N	0.19112	0.55	0.09310	N	1	B	0.26672	0.156	B	0.21917	0.037	T	0.27739	-1.0065	10	0.07030	T	0.85	-28.7697	11.4908	0.50379	0.0:0.9123:0.0:0.0877	.	166	Q9BYV9	BACH2_HUMAN	K	166	ENSP00000257749:E166K;ENSP00000437473:E166K;ENSP00000345642:E166K	ENSP00000257749:E166K	E	-	1	0	BACH2	90718050	0.750000	0.28316	0.027000	0.17364	0.153000	0.21895	2.739000	0.47409	1.428000	0.47296	0.563000	0.77884	GAA		0.612	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2		NM_021813		57	41	0	0	0	0.00361	0	57	41		
ZBTB24	9841	broad.mit.edu	37	6	109802504	109802504	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:109802504C>G	ENST00000230122.3	-	2	893	c.726G>C	c.(724-726)aaG>aaC	p.K242N		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	242					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CATCCTCGGTCTTGGGATCAT	0.463																																						uc003ptl.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(724-726)AAG>AAC		zinc finger and BTB domain containing 24 isoform							190.0	180.0	183.0					6																	109802504		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802504C>G	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.726G>C	6.37:g.109802504C>G	ENSP00000230122:p.Lys242Asn					ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.K242N|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.K242N	p.K242N	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	894	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	242					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.726G>C	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225320	0.39300	.	.	ENSG00000112365	ENST00000230122	T	0.11495	2.77	5.15	4.28	0.50868	.	0.534261	0.22024	N	0.065681	T	0.03695	0.0105	L	0.27053	0.805	0.09310	N	1	D;D	0.54397	0.96;0.966	P;P	0.48488	0.579;0.462	T	0.29941	-0.9995	10	0.39692	T	0.17	-22.3072	5.4357	0.16480	0.1509:0.6397:0.0:0.2094	.	242;242	O43167-2;O43167	.;ZBT24_HUMAN	N	242	ENSP00000230122:K242N	ENSP00000230122:K242N	K	-	3	2	ZBTB24	109909197	1.000000	0.71417	0.970000	0.41538	0.684000	0.39900	1.457000	0.35212	1.399000	0.46721	0.561000	0.74099	AAG		0.463	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1		NM_014797		55	104	0	0	0	0.00361	0	55	104		
TUBE1	51175	broad.mit.edu	37	6	112400898	112400898	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:112400898C>T	ENST00000368662.5	-	6	464	c.386G>A	c.(385-387)aGa>aAa	p.R129K	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	129					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	TGCCGACTTTCTGAATTTCTC	0.368																																						uc003pvq.2		NaN																	0				ovary(1)	1						c.(385-387)AGA>AAA		tubulin, epsilon 1							67.0	72.0	70.0					6																	112400898		2203	4300	6503	SO:0001583	missense	51175				centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton	g.chr6:112400898C>T	AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"""Tubulins"""	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.386G>A	6.37:g.112400898C>T	ENSP00000357651:p.Arg129Lys					TUBE1_uc003pvr.2_Missense_Mutation_p.R54K	p.R129K	NM_016262	NP_057346	Q9UJT0	TBE_HUMAN		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	6	500	-		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)	129					Q5H8W8|Q8NEG3	Missense_Mutation	SNP	ENST00000368662.5	37	c.386G>A	CCDS5100.1	.	.	.	.	.	.	.	.	.	.	C	36	5.649984	0.96714	.	.	ENSG00000074935	ENST00000368658;ENST00000368662;ENST00000441191;ENST00000368657	T	0.72394	-0.65	5.64	5.64	0.86602	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.87350	0.6155	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89636	0.3859	10	0.87932	D	0	.	19.7156	0.96119	0.0:1.0:0.0:0.0	.	129	Q9UJT0	TBE_HUMAN	K	85;129;85;129	ENSP00000357651:R129K	ENSP00000357646:R129K	R	-	2	0	TUBE1	112507591	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.736000	0.84948	2.658000	0.90341	0.655000	0.94253	AGA		0.368	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1		NM_016262		20	28	0	0	0	0.012319	0	20	28		
TUBE1	51175	broad.mit.edu	37	6	112400906	112400906	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:112400906C>A	ENST00000368662.5	-	6	456	c.378G>T	c.(376-378)gaG>gaT	p.E126D	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	126					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	TTCTGAATTTCTCTAAAATCT	0.358																																						uc003pvq.2		NaN																	0				ovary(1)	1						c.(376-378)GAG>GAT		tubulin, epsilon 1							67.0	71.0	69.0					6																	112400906		2203	4300	6503	SO:0001583	missense	51175				centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton	g.chr6:112400906C>A	AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"""Tubulins"""	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.378G>T	6.37:g.112400906C>A	ENSP00000357651:p.Glu126Asp					TUBE1_uc003pvr.2_Missense_Mutation_p.E51D	p.E126D	NM_016262	NP_057346	Q9UJT0	TBE_HUMAN		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	6	492	-		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)	126					Q5H8W8|Q8NEG3	Missense_Mutation	SNP	ENST00000368662.5	37	c.378G>T	CCDS5100.1	.	.	.	.	.	.	.	.	.	.	C	8.044	0.764617	0.15914	.	.	ENSG00000074935	ENST00000368658;ENST00000368662;ENST00000441191;ENST00000368657	T	0.64618	-0.11	5.64	3.87	0.44632	Tubulin/FtsZ, GTPase domain (4);	0.195547	0.52532	D	0.000063	T	0.16514	0.0397	N	0.05199	-0.095	0.52501	D	0.999952	B	0.27316	0.175	B	0.33339	0.162	T	0.25950	-1.0117	10	0.02654	T	1	.	7.8512	0.29455	0.0:0.7292:0.0:0.2708	.	126	Q9UJT0	TBE_HUMAN	D	82;126;82;126	ENSP00000357651:E126D	ENSP00000357646:E126D	E	-	3	2	TUBE1	112507599	0.999000	0.42202	1.000000	0.80357	0.962000	0.63368	0.596000	0.24044	1.392000	0.46585	0.655000	0.94253	GAG		0.358	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1		NM_016262		20	25	1	0	1.01871e-10	0.008871	1.06056e-10	20	25		
LAMA4	3910	broad.mit.edu	37	6	112452258	112452258	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:112452258C>T	ENST00000230538.7	-	29	4277	c.3880G>A	c.(3880-3882)Gat>Aat	p.D1294N	LAMA4_ENST00000522006.1_Missense_Mutation_p.D1287N|LAMA4_ENST00000424408.2_Missense_Mutation_p.D1287N|LAMA4_ENST00000389463.4_Missense_Mutation_p.D1287N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1294	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.D1287Y(1)|p.M1286_D1287>IY(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCCTTTACATCCATGATGACA	0.458																																						uc003pvu.2		NaN																	2	Substitution - Missense(1)|Complex - compound substitution(1)		lung(2)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(3880-3882)GAT>AAT		laminin, alpha 4 isoform 1 precursor							271.0	220.0	237.0					6																	112452258		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112452258C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3880G>A	6.37:g.112452258C>T	ENSP00000230538:p.Asp1294Asn					LAMA4_uc003pvv.2_Missense_Mutation_p.D1287N|LAMA4_uc003pvt.2_Missense_Mutation_p.D1287N	p.D1294N	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	29	4189	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1294			Laminin G-like 3.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.3880G>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	4.147	0.025630	0.08054	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.79	0.359	0.16088	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.435250	0.29868	N	0.010988	T	0.21468	0.0517	N	0.01751	-0.74	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40079	-0.9582	10	0.02654	T	1	.	8.2955	0.31982	0.0:0.3127:0.0:0.6873	.	1294;1287	Q16363;Q16363-2	LAMA4_HUMAN;.	N	1294;1287;1287;1287	ENSP00000230538:D1294N;ENSP00000429488:D1287N;ENSP00000374114:D1287N;ENSP00000416470:D1287N	ENSP00000230538:D1294N	D	-	1	0	LAMA4	112558951	1.000000	0.71417	0.987000	0.45799	0.731000	0.41821	1.203000	0.32284	0.107000	0.17824	-0.244000	0.11960	GAT		0.458	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2		NM_001105206		23	42	0	0	0	0.005443	0	23	42		
DSE	29940	broad.mit.edu	37	6	116757927	116757927	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:116757927A>C	ENST00000331677.3	+	7	2740	c.2296A>C	c.(2296-2298)Aac>Cac	p.N766H	DSE_ENST00000452085.3_Missense_Mutation_p.N766H|DSE_ENST00000537543.1_Missense_Mutation_p.N785H|DSE_ENST00000359564.2_Missense_Mutation_p.N766H			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	766					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCGAGTCCGGAACACAGCTAG	0.478																																						uc003pws.2		NaN																	0				ovary(1)	1						c.(2296-2298)AAC>CAC		dermatan sulfate epimerase precursor							77.0	80.0	79.0					6																	116757927		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116757927A>C	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2296A>C	6.37:g.116757927A>C	ENSP00000332151:p.Asn766His					DSE_uc011ebg.1_Missense_Mutation_p.N785H|DSE_uc003pwt.2_Missense_Mutation_p.N766H|DSE_uc003pwu.2_Missense_Mutation_p.N433H	p.N766H	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	6	2490	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	766					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.2296A>C	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.698046	0.68386	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.75593	-0.3264	10	0.87932	D	0	-27.2178	16.8061	0.85666	1.0:0.0:0.0:0.0	.	785;766	B7Z765;Q9UL01	.;DSE_HUMAN	H	766;785;766;766	ENSP00000404049:N766H;ENSP00000441152:N785H;ENSP00000332151:N766H;ENSP00000352567:N766H	ENSP00000332151:N766H	N	+	1	0	DSE	116864620	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.116000	0.77119	2.367000	0.80283	0.528000	0.53228	AAC		0.478	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2		NM_013352		24	43	0	0	0	0.00632	0	24	43		
LAMA2	3908	broad.mit.edu	37	6	129634083	129634083	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:129634083A>T	ENST00000421865.2	+	23	3301	c.3252A>T	c.(3250-3252)aaA>aaT	p.K1084N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1084	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTCATCCAAAATTCTCTGGTG	0.473																																						uc003qbn.2		NaN																	0				ovary(8)|breast(1)|skin(1)	10						c.(3250-3252)AAA>AAT		laminin alpha 2 subunit isoform a precursor							97.0	88.0	91.0					6																	129634083		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129634083A>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3252A>T	6.37:g.129634083A>T	ENSP00000400365:p.Lys1084Asn					LAMA2_uc003qbo.2_Missense_Mutation_p.K1084N	p.K1084N	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	23	3357	+			1084			Laminin EGF-like 12.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3252A>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	12.38	1.920496	0.33908	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.58652	0.32	5.92	2.28	0.28536	EGF-like, laminin (4);	0.284905	0.35805	N	0.002976	T	0.09291	0.0229	N	0.02368	-0.58	0.33925	D	0.641374	B;B	0.13594	0.008;0.008	B;B	0.17979	0.02;0.02	T	0.16158	-1.0412	10	0.10636	T	0.68	.	5.7208	0.17986	0.6032:0.1364:0.2604:0.0	.	1084;1084	A6NF00;P24043	.;LAMA2_HUMAN	N	1084	ENSP00000400365:K1084N	ENSP00000346769:K1084N	K	+	3	2	LAMA2	129675776	0.749000	0.28305	1.000000	0.80357	0.959000	0.62525	-0.134000	0.10436	0.505000	0.28104	0.528000	0.53228	AAA		0.473	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1				12	18	0	0	0	0.010729	0	12	18		
HBS1L	10767	broad.mit.edu	37	6	135318567	135318567	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:135318567C>T	ENST00000367837.5	-	6	973	c.767G>A	c.(766-768)gGa>gAa	p.G256E	HBS1L_ENST00000367826.2_Missense_Mutation_p.G214E|HBS1L_ENST00000367824.4_Missense_Mutation_p.G92E|HBS1L_ENST00000527578.1_Missense_Mutation_p.G92E|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000415177.2_Missense_Mutation_p.G191E	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	256					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CTGCTTCCCTCCTTGCCGCTT	0.542																																						uc003qez.2		NaN																	0				skin(2)	2						c.(766-768)GGA>GAA		Hsp70 subfamily B suppressor 1-like protein							200.0	139.0	160.0					6																	135318567		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135318567C>T	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.767G>A	6.37:g.135318567C>T	ENSP00000356811:p.Gly256Glu					HBS1L_uc003qey.2_Missense_Mutation_p.G92E|HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Missense_Mutation_p.G92E|HBS1L_uc011eda.1_Missense_Mutation_p.G214E	p.G256E	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	6	974	-	Colorectal(23;0.221)		256					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.767G>A	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241287	0.58995	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000529641;ENST00000527507	T;T;T;T;T;T;T;T	0.62941	-0.01;0.04;0.06;0.02;0.04;0.03;0.09;0.09	6.17	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	M	0.68952	2.095	0.80722	D	1	P;P	0.37525	0.598;0.462	B;B	0.36666	0.23;0.115	T	0.42224	-0.9464	10	0.29301	T	0.29	-8.3124	13.5205	0.61566	0.1258:0.7535:0.1206:0.0	.	214;256	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	E	256;92;191;214;92;126;92;92	ENSP00000356811:G256E;ENSP00000436256:G92E;ENSP00000389826:G191E;ENSP00000356800:G214E;ENSP00000356798:G92E;ENSP00000434533:G126E;ENSP00000436620:G92E;ENSP00000432092:G92E	ENSP00000356798:G92E	G	-	2	0	HBS1L	135360260	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.438000	0.59961	0.893000	0.36288	-0.175000	0.13238	GGA		0.542	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2				29	57	0	0	0	0.004878	0	29	57		
MAP3K5	4217	broad.mit.edu	37	6	136882784	136882784	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:136882784C>T	ENST00000359015.4	-	28	4235		c.e28-1		MAP3K5_ENST00000355845.4_Splice_Site	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCAGGAATTTCTAGAACAGAA	0.358																																						uc003qhc.2		NaN																	0				ovary(2)|skin(2)|lung(1)	5						c.e28-1		mitogen-activated protein kinase kinase kinase							61.0	63.0	62.0					6																	136882784		2203	4300	6503	SO:0001630	splice_region_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136882784C>T	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3875-1G>A	6.37:g.136882784C>T						MAP3K5_uc011edj.1_Splice_Site_p.E539_splice	p.E1292_splice	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	28	4236	-	Colorectal(23;0.24)							A6NIA0|B4DGB2|Q5THN3|Q99461	Splice_Site	SNP	ENST00000359015.4	37	c.3875_splice	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492308	0.44352	.	.	ENSG00000197442	ENST00000359015;ENST00000355845	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7353	0.69412	0.1447:0.8553:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP3K5	136924477	1.000000	0.71417	0.998000	0.56505	0.344000	0.29017	4.143000	0.58051	2.732000	0.93576	0.591000	0.81541	.		0.358	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			Intron	9	15	0	0	0	0.004482	0	9	15		
LRP11	84918	broad.mit.edu	37	6	150174190	150174190	+	Silent	SNP	G	G	A	rs187562016	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:150174190G>A	ENST00000239367.2	-	2	725	c.720C>T	c.(718-720)atC>atT	p.I240I	LRP11_ENST00000546019.1_5'UTR|LRP11_ENST00000367368.2_Silent_p.I240I|RP11-350J20.12_ENST00000472053.2_RNA	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	240	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		CATACTGGACGATGGCGTGGT	0.562																																						uc003qng.2		NaN																	0					0						c.(718-720)ATC>ATT		low density lipoprotein receptor-related protein							93.0	79.0	84.0					6																	150174190		2203	4300	6503	SO:0001819	synonymous_variant	84918					integral to membrane	receptor activity	g.chr6:150174190G>A	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.720C>T	6.37:g.150174190G>A						LRP11_uc003qnh.1_Silent_p.I240I	p.I240I	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	2	1044	-		Ovarian(120;0.0907)	240			PKD.|Extracellular (Potential).		Q5VYC0|Q96SN6	Silent	SNP	ENST00000239367.2	37	c.720C>T	CCDS5220.1																																																																																				0.562	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1		NM_032832		37	32	0	0	0	0.00361	0	37	32		
SYNE1	23345	broad.mit.edu	37	6	152737832	152737832	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:152737832G>A	ENST00000367255.5	-	41	6341	c.5740C>T	c.(5740-5742)Caa>Taa	p.Q1914*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q1914*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q1921*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q1921*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q1951*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1914					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTAGCATTTTGAAGAGCATCA	0.458										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(5740-5742)CAA>TAA		spectrin repeat containing, nuclear envelope 1							106.0	103.0	104.0					6																	152737832		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152737832G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5740C>T	6.37:g.152737832G>A	ENSP00000356224:p.Gln1914*	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Nonsense_Mutation_p.Q1921*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q1914*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q1897*	p.Q1914*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6342	-		Ovarian(120;0.0955)	1914			Cytoplasmic (Potential).|Potential.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.5740C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	47	13.027913	0.99714	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	6.16	4.2	0.49525	.	1.151480	0.06375	N	0.714273	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	12.3696	0.55248	0.0:0.1988:0.6398:0.1614	.	.	.	.	X	1914;1921;1914;1921;1951	.	ENSP00000265368:Q1914X	Q	-	1	0	SYNE1	152779525	0.472000	0.25870	0.003000	0.11579	0.059000	0.15707	2.553000	0.45837	1.590000	0.49995	0.650000	0.86243	CAA		0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		9	21	0	0	0	0.006214	0	9	21		
SYNE1	23345	broad.mit.edu	37	6	152765587	152765587	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:152765587C>T	ENST00000367255.5	-	30	4397	c.3796G>A	c.(3796-3798)Gaa>Aaa	p.E1266K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E1266K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1256K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1273K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1273K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E1266K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1332K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1266K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1266					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACAGATTTTCAGTATCCAAG	0.368										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3796-3798)GAA>AAA		spectrin repeat containing, nuclear envelope 1							135.0	133.0	134.0					6																	152765587		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152765587C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3796G>A	6.37:g.152765587C>T	ENSP00000356224:p.Glu1266Lys	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E1273K|SYNE1_uc003qou.3_Missense_Mutation_p.E1266K|SYNE1_uc010kjb.1_Missense_Mutation_p.E1249K|SYNE1_uc003qow.2_Missense_Mutation_p.E561K|SYNE1_uc003qox.1_Missense_Mutation_p.E782K	p.E1266K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	30	4398	-		Ovarian(120;0.0955)	1266			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3796G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554362	0.65425	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.89196	0.42;0.42;0.33;0.42;0.48;-2.4;-2.48;-2.48	5.96	5.08	0.68730	.	0.092891	0.46758	N	0.000261	T	0.76630	0.4014	L	0.41236	1.265	0.80722	D	1	B;B;B;B;B;B	0.21147	0.052;0.006;0.011;0.008;0.006;0.011	B;B;B;B;B;B	0.22386	0.039;0.01;0.023;0.023;0.01;0.023	T	0.73081	-0.4095	10	0.20046	T	0.44	.	15.6168	0.76773	0.0:0.9333:0.0:0.0667	.	1249;1266;1256;1266;1266;1273	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	K	1266;1273;1266;1273;1332;1266;1256;1266	ENSP00000356224:E1266K;ENSP00000396024:E1273K;ENSP00000265368:E1266K;ENSP00000390975:E1273K;ENSP00000341887:E1332K;ENSP00000356222:E1266K;ENSP00000356217:E1256K;ENSP00000414510:E1266K	ENSP00000265368:E1266K	E	-	1	0	SYNE1	152807280	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	2.794000	0.47853	1.496000	0.48567	0.655000	0.94253	GAA		0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		25	38	0	0	0	0.012213	0	25	38		
SYNE1	23345	broad.mit.edu	37	6	152768689	152768689	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:152768689C>G	ENST00000367255.5	-	29	4174	c.3573G>C	c.(3571-3573)ttG>ttC	p.L1191F	SYNE1_ENST00000265368.4_Missense_Mutation_p.L1191F|SYNE1_ENST00000367248.3_Missense_Mutation_p.L1181F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L1198F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L1198F|SYNE1_ENST00000413186.2_Missense_Mutation_p.L1191F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L1257F|SYNE1_ENST00000367253.4_Missense_Mutation_p.L1191F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1191					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAACTTCTGTCAAAACTTTCA	0.458										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3571-3573)TTG>TTC		spectrin repeat containing, nuclear envelope 1							99.0	97.0	98.0					6																	152768689		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152768689C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3573G>C	6.37:g.152768689C>G	ENSP00000356224:p.Leu1191Phe	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.L1198F|SYNE1_uc003qou.3_Missense_Mutation_p.L1191F|SYNE1_uc010kjb.1_Missense_Mutation_p.L1174F|SYNE1_uc003qow.2_Missense_Mutation_p.L486F|SYNE1_uc003qox.1_Missense_Mutation_p.L707F	p.L1191F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	29	4175	-		Ovarian(120;0.0955)	1191			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3573G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338628	0.60963	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.9	2.71	0.32032	.	0.327553	0.22684	N	0.056905	T	0.50684	0.1630	M	0.71581	2.175	0.46981	D	0.999273	D;D;D;D;D;D	0.76494	0.996;0.998;0.999;0.997;0.998;0.999	P;D;D;D;D;D	0.72625	0.891;0.935;0.978;0.964;0.935;0.971	T	0.54221	-0.8326	10	0.72032	D	0.01	.	6.3404	0.21319	0.2599:0.5807:0.0:0.1594	.	1174;1191;1181;1191;1191;1198	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	F	1191;1198;1191;1198;1257;1191;1181;1191	ENSP00000356224:L1191F;ENSP00000396024:L1198F;ENSP00000265368:L1191F;ENSP00000390975:L1198F;ENSP00000341887:L1257F;ENSP00000356222:L1191F;ENSP00000356217:L1181F;ENSP00000414510:L1191F	ENSP00000265368:L1191F	L	-	3	2	SYNE1	152810382	0.478000	0.25917	0.844000	0.33320	0.962000	0.63368	0.280000	0.18790	0.659000	0.30945	0.650000	0.86243	TTG		0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		26	41	0	0	0	0.009535	0	26	41		
PAPOLB	56903	broad.mit.edu	37	7	4899851	4899851	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:4899851C>G	ENST00000404991.1	-	1	1774	c.1588G>C	c.(1588-1590)Gaa>Caa	p.E530Q	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	530					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		ATGCTGTTTTCACAGCCTGCA	0.468																																						uc003snk.2		NaN																	0				ovary(1)	1						c.(1591-1593)GAA>CAA		poly(A) polymerase beta (testis specific)							102.0	94.0	97.0					7																	4899851		1987	4204	6191	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4899851C>G	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1588G>C	7.37:g.4899851C>G	ENSP00000384700:p.Glu530Gln					RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	p.E531Q	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1775	-		Ovarian(82;0.0175)	530					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.1591G>C		.	.	.	.	.	.	.	.	.	.	C	9.140	1.013595	0.19277	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	T	0.32971	0.0847	N	0.24115	0.695	0.27436	N	0.953864	B	0.30584	0.286	B	0.34489	0.184	T	0.12218	-1.0556	8	0.23302	T	0.38	.	15.4598	0.75346	0.0:1.0:0.0:0.0	.	531	A4D1Z6	.	Q	530	.	ENSP00000384700:E530Q	E	-	1	0	PAPOLB	4866377	1.000000	0.71417	0.146000	0.22360	0.561000	0.35649	2.854000	0.48325	2.777000	0.95525	0.591000	0.81541	GAA		0.468	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1		NM_020144		54	44	0	0	0	0.00361	0	54	44		
DNAH11	8701	broad.mit.edu	37	7	21840770	21840770	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:21840770C>T	ENST00000409508.3	+	62	10073	c.10042C>T	c.(10042-10044)Ctg>Ttg	p.L3348L	DNAH11_ENST00000328843.6_Silent_p.L3355L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3355	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGATCGAAATCTGAGCAGACT	0.373									Kartagener syndrome																													uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(10063-10065)CTG>TTG		dynein, axonemal, heavy chain 11							46.0	44.0	45.0					7																	21840770		1900	4131	6031	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21840770C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10042C>T	7.37:g.21840770C>T							p.L3355L	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			63	10094	+			3355			Potential.|Stalk (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.10063C>T																																																																																					0.373	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		3	10	0	0	0	0.004672	0	3	10		
MPP6	51678	broad.mit.edu	37	7	24681456	24681456	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:24681456T>G	ENST00000222644.5	+	3	489	c.239T>G	c.(238-240)tTg>tGg	p.L80W	MPP6_ENST00000396475.2_Missense_Mutation_p.L80W|MPP6_ENST00000409761.1_5'UTR			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GTGGCAGAATTGGTTGGTATA	0.378																																						uc003swx.2		NaN																	0					0						c.(238-240)TTG>TGG		membrane protein, palmitoylated 6							139.0	137.0	138.0					7																	24681456		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24681456T>G	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.239T>G	7.37:g.24681456T>G	ENSP00000222644:p.Leu80Trp					MPP6_uc003swy.2_Missense_Mutation_p.L80W	p.L80W	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN			4	538	+			80			L27 2.		B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.239T>G	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.825239	0.90955	.	.	ENSG00000105926	ENST00000432190;ENST00000222644;ENST00000396475;ENST00000430180	T;T;T;T	0.34072	1.38;2.8;2.8;1.84	5.65	5.65	0.86999	L27, C-terminal (1);L27 (2);	0.159954	0.28933	N	0.013671	T	0.67924	0.2945	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75491	-0.3299	10	0.87932	D	0	.	16.1611	0.81712	0.0:0.0:0.0:1.0	.	80	Q9NZW5	MPP6_HUMAN	W	80	ENSP00000395859:L80W;ENSP00000222644:L80W;ENSP00000379737:L80W;ENSP00000391020:L80W	ENSP00000222644:L80W	L	+	2	0	MPP6	24647981	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.997000	0.88414	2.272000	0.75746	0.460000	0.39030	TTG		0.378	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4				11	113	0	0	0	0.00245	0	11	113		
TAX1BP1	8887	broad.mit.edu	37	7	27825064	27825064	+	Missense_Mutation	SNP	G	G	C	rs371052683		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:27825064G>C	ENST00000396319.2	+	7	896	c.808G>C	c.(808-810)Gaa>Caa	p.E270Q	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.E270Q|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.E113Q|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.E270Q|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.E270Q	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	270					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AGAACAACTTGAATGTCAGTT	0.294																																						uc003szl.2		NaN																	0				breast(1)	1						c.(808-810)GAA>CAA		Tax1 (human T-cell leukemia virus type I)		G	GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU	0,4406		0,0,2203	99.0	111.0	107.0		808,808,337,808	5.9	1.0	7		107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	TAX1BP1	NM_001079864.2,NM_001206901.1,NM_001206902.1,NM_006024.6	29,29,29,29	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	270/748,270/748,113/591,270/790	27825064	1,13005	2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27825064G>C	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.808G>C	7.37:g.27825064G>C	ENSP00000379612:p.Glu270Gln					TAX1BP1_uc011jzo.1_Missense_Mutation_p.E270Q|TAX1BP1_uc003szk.2_Missense_Mutation_p.E270Q|TAX1BP1_uc011jzp.1_Missense_Mutation_p.E113Q	p.E270Q	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		7	966	+			270			Potential.		B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.808G>C	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279106	0.80692	0.0	1.16E-4	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84	5.95	5.95	0.96441	.	0.000000	0.56097	D	0.000038	T	0.24851	0.0603	L	0.38531	1.155	0.80722	D	1	D;D;D	0.64830	0.984;0.988;0.994	P;D;D	0.67231	0.906;0.919;0.95	T	0.00313	-1.1825	10	0.28530	T	0.3	-13.9905	20.3921	0.98947	0.0:0.0:1.0:0.0	.	113;270;270	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	Q	270;270;270;113;270	ENSP00000444811:E270Q;ENSP00000265393:E270Q;ENSP00000386515:E270Q;ENSP00000391907:E113Q;ENSP00000379612:E270Q	ENSP00000265393:E270Q	E	+	1	0	TAX1BP1	27791589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.164000	0.94755	2.822000	0.97130	0.650000	0.86243	GAA		0.294	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1		NM_006024		45	62	0	0	0	0.00361	0	45	62		
NT5C3A	51251	broad.mit.edu	37	7	33066465	33066465	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:33066465G>A	ENST00000242210.7	-	2	292	c.216C>T	c.(214-216)atC>atT	p.I72I	NT5C3A_ENST00000396152.2_Silent_p.I33I|NT5C3A_ENST00000409467.1_Silent_p.I21I|NT5C3A_ENST00000610140.1_Silent_p.I67I|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000381626.2_Silent_p.I21I|NT5C3A_ENST00000405342.1_Silent_p.I33I|NT5C3A_ENST00000409787.1_Silent_p.I33I	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	72					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										TAAGACCACAGATAATTTCTT	0.368																																						uc003tdk.2		NaN																	0				ovary(1)	1						c.(214-216)ATC>ATT		5'-nucleotidase, cytosolic III isoform 1							103.0	100.0	101.0					7																	33066465		2203	4300	6503	SO:0001819	synonymous_variant	51251				nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr7:33066465G>A	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.216C>T	7.37:g.33066465G>A						AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Silent_p.I33I|NT5C3_uc003tdj.2_Silent_p.I33I	p.I72I	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		2	293	-			72					A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Silent	SNP	ENST00000242210.7	37	c.216C>T	CCDS34616.1																																																																																				0.368	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1		NM_016489		13	63	0	0	0	0.003163	0	13	63		
BBS9	27241	broad.mit.edu	37	7	33644572	33644572	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:33644572G>A	ENST00000242067.6	+	22	3138	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	BBS9_ENST00000350941.3_Missense_Mutation_p.E833K|BBS9_ENST00000354265.4_Missense_Mutation_p.E838K|BBS9_ENST00000396127.2_Missense_Mutation_p.E838K|BBS9_ENST00000355070.2_Missense_Mutation_p.E868K	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	873					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCTCACTGCAGAGACACCCAG	0.453									Bardet-Biedl syndrome																													uc003tdn.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(2617-2619)GAG>AAG		parathyroid hormone-responsive B1 isoform 2							73.0	65.0	68.0					7																	33644572		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33644572G>A		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2617G>A	7.37:g.33644572G>A	ENSP00000242067:p.Glu873Lys					BBS9_uc003tdo.1_Missense_Mutation_p.E838K|BBS9_uc003tdp.1_Missense_Mutation_p.E868K|BBS9_uc003tdq.1_Missense_Mutation_p.E833K|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.E397K|BBS9_uc003tds.1_Missense_Mutation_p.E296K|BBS9_uc003tdt.2_Intron	p.E873K	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		22	3130	+			873					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.2617G>A	CCDS43566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.68|16.68	3.191584|3.191584	0.58017|0.58017	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132|ENST00000434373	T;T;T;T;T|.	0.60171|.	0.23;0.21;0.22;0.22;0.21|.	5.61|5.61	3.67|3.67	0.42095|0.42095	.|.	0.272603|.	0.26582|.	N|.	0.023568|.	T|T	0.40839|0.40839	0.1133|0.1133	N|N	0.22421|0.22421	0.69|0.69	0.54753|0.54753	D|D	0.999982|0.999982	B;P;B;P;B|.	0.37207|.	0.027;0.587;0.091;0.587;0.091|.	B;B;B;B;B|.	0.36464|.	0.067;0.225;0.107;0.225;0.107|.	T|T	0.16867|0.16867	-1.0388|-1.0388	10|5	0.72032|.	D|.	0.01|.	-6.0293|-6.0293	7.7266|7.7266	0.28763|0.28763	0.0944:0.2707:0.6348:0.0|0.0944:0.2707:0.6348:0.0	.|.	873;833;868;838;873|.	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4|.	.;.;.;.;PTHB1_HUMAN|.	K|K	873;833;838;868;838;873|439	ENSP00000242067:E873K;ENSP00000313122:E833K;ENSP00000379433:E838K;ENSP00000347182:E868K;ENSP00000346214:E838K|.	ENSP00000242067:E873K|.	E|R	+|+	1|2	0|0	BBS9|BBS9	33611097|33611097	0.900000|0.900000	0.30661|0.30661	0.052000|0.052000	0.19188|0.19188	0.270000|0.270000	0.26580|0.26580	1.438000|1.438000	0.35002|0.35002	1.509000|1.509000	0.48786|0.48786	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.453	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1				15	18	0	0	0	0.004007	0	15	18		
POU6F2	11281	broad.mit.edu	37	7	39500145	39500145	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:39500145G>A	ENST00000403058.1	+	10	1556		c.e10-1		POU6F2_ENST00000518318.2_Splice_Site|POU6F2_ENST00000559001.1_Splice_Site	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2						central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CATCTCCACAGATCCTCAAAC	0.453																																						uc003thb.1		NaN																	0				central_nervous_system(1)	1						c.e9-1		POU class 6 homeobox 2 isoform 1							53.0	47.0	49.0					7																	39500145		2203	4300	6503	SO:0001630	splice_region_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39500145G>A	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1403-1G>A	7.37:g.39500145G>A							p.N468_splice	NM_007252	NP_009183	P78424	PO6F2_HUMAN			9	1445	+								A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Splice_Site	SNP	ENST00000403058.1	37	c.1403_splice	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014609	0.75161	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3555	0.94410	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POU6F2	39466670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.820000	0.99359	2.572000	0.86782	0.511000	0.50034	.		0.453	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3		NM_007252	Intron	21	27	0	0	0	0.005443	0	21	27		
BLVRA	644	broad.mit.edu	37	7	43830958	43830958	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:43830958A>G	ENST00000402924.1	+	5	408	c.245A>G	c.(244-246)gAc>gGc	p.D82G	BLVRA_ENST00000265523.4_Missense_Mutation_p.D82G	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	82					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						AGCCATGAGGACTACATCAGG	0.512																																						uc003tir.2		NaN																	0				ovary(1)	1						c.(244-246)GAC>GGC		biliverdin reductase A precursor	NADH(DB00157)						92.0	80.0	84.0					7																	43830958		2203	4300	6503	SO:0001583	missense	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43830958A>G	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.245A>G	7.37:g.43830958A>G	ENSP00000385757:p.Asp82Gly					BLVRA_uc010kxv.2_Missense_Mutation_p.D82G	p.D82G	NM_000712	NP_000703	P53004	BIEA_HUMAN			4	328	+			82					A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	37	c.245A>G	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.995589	0.35226	.	.	ENSG00000106605	ENST00000265523;ENST00000402924;ENST00000424330	T;T;T	0.23950	1.88;1.88;1.88	4.91	-0.63	0.11530	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.241327	0.48286	N	0.000189	T	0.19046	0.0457	L	0.55834	1.745	0.32173	N	0.58135	B	0.02656	0.0	B	0.01281	0.0	T	0.06356	-1.0831	10	0.59425	D	0.04	-28.0652	4.5399	0.12052	0.4961:0.1683:0.3356:0.0	.	82	P53004	BIEA_HUMAN	G	82	ENSP00000265523:D82G;ENSP00000385757:D82G;ENSP00000412005:D82G	ENSP00000265523:D82G	D	+	2	0	BLVRA	43797483	0.995000	0.38212	0.999000	0.59377	0.983000	0.72400	0.835000	0.27531	0.026000	0.15269	0.533000	0.62120	GAC		0.512	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1		NM_000712		103	55	0	0	0	0.00361	0	103	55		
H2AFV	94239	broad.mit.edu	37	7	44880509	44880509	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:44880509G>A	ENST00000308153.4	-	3	275	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F	H2AFV_ENST00000446531.1_Missense_Mutation_p.L62F|H2AFV_ENST00000350771.3_Missense_Mutation_p.L36F|H2AFV_ENST00000381124.5_Missense_Mutation_p.L62F|H2AFV_ENST00000349299.3_Intron|H2AFV_ENST00000222690.6_Missense_Mutation_p.L62F|H2AFV_ENST00000521529.1_Missense_Mutation_p.L36F|H2AFV_ENST00000437072.1_Intron	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	62						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						TCTGCAGTGAGGTACTCCAGA	0.502																																						uc003tma.2		NaN																	0					0						c.(184-186)CTC>TTC		H2A histone family, member V isoform 1							106.0	88.0	94.0					7																	44880509		2203	4300	6503	SO:0001583	missense	94239				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr7:44880509G>A	AF081192	CCDS5495.1, CCDS5496.1, CCDS5497.1, CCDS5498.1, CCDS47581.1	7p13	2011-01-27		2004-03-26	ENSG00000105968	ENSG00000105968		"""Histones / Replication-independent"""	20664	protein-coding gene	gene with protein product				H2AV			Standard	NM_012412		Approved	MGC10170, MGC10831, MGC1947	uc003tma.2	Q71UI9	OTTHUMG00000129217	ENST00000308153.4:c.184C>T	7.37:g.44880509G>A	ENSP00000308405:p.Leu62Phe					H2AFV_uc003tlz.2_Missense_Mutation_p.L62F|H2AFV_uc003tmb.2_Intron|H2AFV_uc003tmc.2_Missense_Mutation_p.L62F|H2AFV_uc003tmd.2_Missense_Mutation_p.L36F	p.L62F	NM_012412	NP_036544	Q71UI9	H2AV_HUMAN			3	339	-			62					A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98	Missense_Mutation	SNP	ENST00000308153.4	37	c.184C>T	CCDS5496.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160555	0.78226	.	.	ENSG00000105968	ENST00000222690;ENST00000308153;ENST00000350771;ENST00000381124;ENST00000521529;ENST00000446531	T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.31	5.31	0.75309	Histone-fold (2);Histone core (1);Histone H2A (2);	.	.	.	.	T	0.81716	0.4881	H	0.96996	3.92	0.80722	D	1	B;B;P	0.42409	0.452;0.379;0.779	B;B;P	0.44673	0.309;0.177;0.457	D	0.87499	0.2432	9	0.66056	D	0.02	-11.8595	16.4768	0.84134	0.0:0.0:1.0:0.0	.	36;62;62	A6NKY0;Q71UI9;A6NN01	.;H2AV_HUMAN;.	F	62;62;36;62;36;62	ENSP00000222690:L62F;ENSP00000308405:L62F;ENSP00000340708:L36F;ENSP00000370516:L62F;ENSP00000430492:L36F;ENSP00000406901:L62F	ENSP00000222690:L62F	L	-	1	0	H2AFV	44847034	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.367000	0.79558	2.504000	0.84457	0.563000	0.77884	CTC		0.502	H2AFV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251305.1		NM_012412		86	40	0	0	0	0.00361	0	86	40		
TBRG4	9238	broad.mit.edu	37	7	45142089	45142089	+	Splice_Site	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:45142089A>C	ENST00000258770.3	-	7	1299	c.1178T>G	c.(1177-1179)gTa>gGa	p.V393G	TBRG4_ENST00000395655.4_Splice_Site_p.V283G|SNORA5C_ENST00000364902.1_RNA|SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000361278.3_Splice_Site_p.V283G|TBRG4_ENST00000494076.1_Splice_Site_p.V393G	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	393					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CTTCTCATGTACCTGGGCAAG	0.597																																						uc003tmv.2		NaN																	0					0						c.(1177-1179)GTA>GGA		cell cycle progression 2 protein isoform 1							50.0	52.0	51.0					7																	45142089		2203	4300	6503	SO:0001630	splice_region_variant	9238				apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	g.chr7:45142089A>C	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.1177-1T>G	7.37:g.45142089A>C						TBRG4_uc003tmu.2_Missense_Mutation_p.V218G|TBRG4_uc003tmw.2_Missense_Mutation_p.V283G|TBRG4_uc003tmx.2_Missense_Mutation_p.V283G|TBRG4_uc011kcd.1_Missense_Mutation_p.V404G	p.V393G	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN			7	1304	-			393					A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	ENST00000258770.3	37	c.1178T>G	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.289252	0.40494	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.99	4.99	0.66335	FAST kinase leucine-rich (1);	0.123661	0.53938	D	0.000047	T	0.62962	0.2471	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.74348	0.983;0.973;0.972	T	0.66276	-0.5964	10	0.87932	D	0	.	8.9268	0.35646	0.913:0.0:0.087:0.0	.	404;283;393	B4DU42;Q969Z0-2;Q969Z0	.;.;TBRG4_HUMAN	G	393;283;283;393	ENSP00000258770:V393G;ENSP00000354992:V283G;ENSP00000379016:V283G;ENSP00000420597:V393G	ENSP00000258770:V393G	V	-	2	0	TBRG4	45108614	1.000000	0.71417	0.927000	0.36925	0.037000	0.13140	5.501000	0.66950	2.091000	0.63221	0.459000	0.35465	GTA		0.597	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1		NM_030900	Missense_Mutation	24	168	0	0	0	0.003954	0	24	168		
DDC	1644	broad.mit.edu	37	7	50537777	50537777	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:50537777G>C	ENST00000444124.2	-	12	1334	c.1134C>G	c.(1132-1134)atC>atG	p.I378M	DDC_ENST00000357936.5_Missense_Mutation_p.I378M|DDC_ENST00000426377.1_Missense_Mutation_p.I300M|DDC_ENST00000431062.1_Missense_Mutation_p.I285M	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	378					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	TCACCTTGCGGATATAAGCCT	0.348																																						uc003tpf.3		NaN																	0				ovary(2)	2						c.(1132-1134)ATC>ATG		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						103.0	101.0	102.0					7																	50537777		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50537777G>C		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1134C>G	7.37:g.50537777G>C	ENSP00000403644:p.Ile378Met					DDC_uc010kza.2_Missense_Mutation_p.I293M|DDC_uc003tpg.3_Missense_Mutation_p.I378M	p.I378M	NM_000790	NP_000781	P20711	DDC_HUMAN			12	1220	-	Glioma(55;0.08)|all_neural(89;0.245)		378					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.1134C>G	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.88|17.88	3.497530|3.497530	0.64186|0.64186	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124|ENST00000430300	T;T;T;T|.	0.44881|.	0.91;0.91;0.91;0.91|.	5.64|5.64	4.75|4.75	0.60458|0.60458	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84206|0.84206	0.5421|0.5421	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.996;0.996|.	D|D	0.88150|0.88150	0.2850|0.2850	10|5	0.87932|.	D|.	0|.	-32.0099|-32.0099	14.2125|14.2125	0.65773|0.65773	0.0741:0.0:0.9259:0.0|0.0741:0.0:0.9259:0.0	.|.	378;378|.	Q53Y41;P20711|.	.;DDC_HUMAN|.	M|C	378;285;300;378|259	ENSP00000350616:I378M;ENSP00000399184:I285M;ENSP00000395069:I300M;ENSP00000403644:I378M|.	ENSP00000350616:I378M|.	I|S	-|-	3|2	3|0	DDC|DDC	50505271|50505271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	1.585000|1.585000	0.36600|0.36600	1.494000|1.494000	0.48533|0.48533	0.650000|0.650000	0.86243|0.86243	ATC|TCC		0.348	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1				27	139	0	0	0	0.009535	0	27	139		
GRB10	2887	broad.mit.edu	37	7	50737442	50737442	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:50737442G>C	ENST00000401949.1	-	7	950	c.481C>G	c.(481-483)Ccg>Gcg	p.P161A	GRB10_ENST00000357271.5_Missense_Mutation_p.P161A|GRB10_ENST00000407526.1_Missense_Mutation_p.P103A|GRB10_ENST00000335866.3_Missense_Mutation_p.P103A|GRB10_ENST00000398810.2_Missense_Mutation_p.P103A|GRB10_ENST00000406641.1_Missense_Mutation_p.P103A|GRB10_ENST00000403097.1_Missense_Mutation_p.P155A|GRB10_ENST00000398812.2_Missense_Mutation_p.P161A|GRB10_ENST00000402497.1_Missense_Mutation_p.P103A|GRB10_ENST00000439599.1_Missense_Mutation_p.P155A|GRB10_ENST00000402578.1_Missense_Mutation_p.P103A			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	161					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCCTGGCTCGGAGGTAAAGAA	0.592									Russell-Silver syndrome																													uc003tpi.2		NaN																	0				lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(481-483)CCG>GCG		growth factor receptor-bound protein 10 isoform							21.0	26.0	24.0					7																	50737442		1862	4109	5971	SO:0001583	missense	2887	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50737442G>C		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.481C>G	7.37:g.50737442G>C	ENSP00000385770:p.Pro161Ala					GRB10_uc003tph.3_Missense_Mutation_p.P103A|GRB10_uc003tpj.2_Missense_Mutation_p.P161A|GRB10_uc003tpk.2_Missense_Mutation_p.P161A|GRB10_uc010kzb.2_Missense_Mutation_p.P103A|GRB10_uc003tpl.2_Missense_Mutation_p.P155A|GRB10_uc003tpm.2_Missense_Mutation_p.P103A|GRB10_uc003tpn.2_Missense_Mutation_p.P103A	p.P161A	NM_005311	NP_005302	Q13322	GRB10_HUMAN			4	512	-	Glioma(55;0.08)|all_neural(89;0.245)		161					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.481C>G	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	.	17.54	3.416035	0.62511	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	T;T;D;D;D;T;D;D;D;T;D	0.82255	-1.46;-1.46;-1.59;-1.59;-1.59;-1.46;-1.59;-1.54;-1.59;-1.46;-1.59	5.71	4.81	0.61882	.	0.158643	0.56097	N	0.000023	T	0.77412	0.4126	N	0.19112	0.55	0.33300	D	0.564671	B;B;B	0.34147	0.438;0.438;0.021	B;B;B	0.42245	0.381;0.197;0.017	T	0.79193	-0.1904	10	0.23302	T	0.38	-30.0129	16.6209	0.84930	0.0:0.1302:0.8698:0.0	.	155;161;161	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	A	161;155;103;103;103;155;103;161;103;161;103	ENSP00000381793:P161A;ENSP00000406716:P155A;ENSP00000338543:P103A;ENSP00000381790:P103A;ENSP00000385189:P103A;ENSP00000385544:P155A;ENSP00000385366:P103A;ENSP00000349818:P161A;ENSP00000385046:P103A;ENSP00000385770:P161A;ENSP00000385748:P103A	ENSP00000338543:P103A	P	-	1	0	GRB10	50704936	1.000000	0.71417	0.909000	0.35828	0.911000	0.54048	5.161000	0.64935	1.359000	0.45940	0.655000	0.94253	CCG		0.592	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1				34	31	0	0	0	0.00623	0	34	31		
ELN	2006	broad.mit.edu	37	7	73474260	73474260	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:73474260C>T	ENST00000252034.7	+	23	1858	c.1459C>T	c.(1459-1461)Cct>Tct	p.P487S	ELN_ENST00000458204.1_Missense_Mutation_p.P477S|ELN_ENST00000380562.4_Missense_Mutation_p.P493S|ELN_ENST00000357036.5_Missense_Mutation_p.P492S|ELN_ENST00000320492.7_Missense_Mutation_p.P406S|ELN_ENST00000380553.4_Missense_Mutation_p.P351S|ELN_ENST00000380584.4_Missense_Mutation_p.P454S|ELN_ENST00000380575.4_Missense_Mutation_p.P458S|ELN_ENST00000358929.4_Missense_Mutation_p.P522S|ELN_ENST00000380576.5_Missense_Mutation_p.P468S|ELN_ENST00000429192.1_Missense_Mutation_p.P473S|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.P463S|ELN_ENST00000320399.6_Missense_Mutation_p.P487S|ELN_ENST00000445912.1_Missense_Mutation_p.P487S	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TGGCGTGGCTCCTGGTGTCGG	0.592			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															uc003tzw.2		NaN		Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		0				ovary(3)|pancreas(2)	5						c.(1477-1479)CCT>TCT		elastin isoform a precursor	Rofecoxib(DB00533)						227.0	214.0	218.0					7																	73474260		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474260C>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1459C>T	7.37:g.73474260C>T	ENSP00000252034:p.Pro487Ser					RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Missense_Mutation_p.P487S|ELN_uc003tzz.2_Missense_Mutation_p.P406S|ELN_uc003tzo.2_Missense_Mutation_p.P454S|ELN_uc003tzp.2_Missense_Mutation_p.P398S|ELN_uc003tzq.2_Missense_Mutation_p.P351S|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Missense_Mutation_p.P468S|ELN_uc003tzt.2_Missense_Mutation_p.P492S|ELN_uc003tzu.2_Missense_Mutation_p.P473S|ELN_uc003tzv.2_Missense_Mutation_p.P458S|ELN_uc003tzx.2_Missense_Mutation_p.P477S|ELN_uc011kff.1_Missense_Mutation_p.P487S|ELN_uc003tzy.2_Missense_Mutation_p.P463S	p.P493S	NM_000501	NP_001075224	P15502	ELN_HUMAN			23	1568	+		Lung NSC(55;0.159)	516			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1477C>T	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	C	9.839	1.190553	0.21954	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44881	1.17;1.29;1.07;1.16;0.99;1.02;1.05;0.94;1.18;1.3;0.98;0.91;1.07;1.33	2.13	-2.76	0.05896	.	.	.	.	.	T	0.27205	0.0667	.	.	.	0.09310	N	0.999996	B;B;B;B;B;B;B;B;B;B;B;B;B	0.23185	0.081;0.081;0.081;0.081;0.081;0.081;0.081;0.081;0.081;0.081;0.081;0.081;0.081	B;B;B;B;B;B;B;B;B;B;B;B;B	0.15052	0.012;0.012;0.012;0.012;0.012;0.012;0.012;0.012;0.012;0.012;0.012;0.012;0.012	T	0.19031	-1.0318	8	0.59425	D	0.04	.	6.6088	0.22739	0.1722:0.2955:0.5322:0.0	.	487;406;463;477;493;458;473;492;468;351;398;454;487	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	S	487;487;522;406;463;493;458;454;477;492;473;351;468;487	ENSP00000389857:P487S;ENSP00000252034:P487S;ENSP00000351807:P522S;ENSP00000315607:P406S;ENSP00000392575:P463S;ENSP00000369936:P493S;ENSP00000369949:P458S;ENSP00000369958:P454S;ENSP00000403162:P477S;ENSP00000349540:P492S;ENSP00000391129:P473S;ENSP00000369926:P351S;ENSP00000369950:P468S;ENSP00000313565:P487S	ENSP00000252034:P487S	P	+	1	0	ELN	73112196	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.156000	0.16382	-0.736000	0.04831	0.558000	0.71614	CCT		0.592	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1		NM_000501		130	179	0	0	0	0.00361	0	130	179		
FGL2	10875	broad.mit.edu	37	7	76828885	76828885	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:76828885C>G	ENST00000248598.5	-	1	258	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	76						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						AACACCTCCTCGATCCTGCTG	0.507																																						uc003ugb.2		NaN																	0				skin(2)	2						c.(226-228)GAG>CAG		fibrinogen-like 2 precursor							104.0	97.0	99.0					7																	76828885		2203	4300	6503	SO:0001583	missense	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76828885C>G	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.226G>C	7.37:g.76828885C>G	ENSP00000248598:p.Glu76Gln					CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	p.E76Q	NM_006682	NP_006673	Q14314	FGL2_HUMAN			1	266	-			76			Potential.			Missense_Mutation	SNP	ENST00000248598.5	37	c.226G>C	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339902	0.81911	.	.	ENSG00000127951	ENST00000248598	T	0.69806	-0.43	6.17	4.33	0.51752	.	0.086708	0.85682	N	0.000000	T	0.80944	0.4721	M	0.71036	2.16	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.81848	-0.0744	10	0.51188	T	0.08	.	16.6935	0.85328	0.0:0.7556:0.2444:0.0	.	76	Q14314	FGL2_HUMAN	Q	76	ENSP00000248598:E76Q	ENSP00000248598:E76Q	E	-	1	0	FGL2	76666821	0.998000	0.40836	0.851000	0.33527	0.888000	0.51559	3.680000	0.54641	0.890000	0.36211	0.655000	0.94253	GAG		0.507	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1		NM_006682		27	85	0	0	0	0.009535	0	27	85		
SEMA3E	9723	broad.mit.edu	37	7	82997265	82997265	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:82997265C>T	ENST00000307792.3	-	17	2432	c.1965G>A	c.(1963-1965)caG>caA	p.Q655Q	SEMA3E_ENST00000427262.1_Silent_p.Q595Q	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	655	Ig-like C2-type.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCTCTACTGTCTGGCAAAAAT	0.443																																						uc003uhy.1		NaN																	0				ovary(3)	3						c.(1963-1965)CAG>CAA		semaphorin 3E precursor							125.0	116.0	119.0					7																	82997265		2203	4300	6503	SO:0001819	synonymous_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:82997265C>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1965G>A	7.37:g.82997265C>T							p.Q655Q	NM_012431	NP_036563	O15041	SEM3E_HUMAN			17	2431	-		Medulloblastoma(109;0.109)	655			Ig-like C2-type.		B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	c.1965G>A	CCDS34674.1																																																																																				0.443	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1		NM_012431		38	62	0	0	0	0.009718	0	38	62		
ADAM22	53616	broad.mit.edu	37	7	87757967	87757967	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:87757967G>C	ENST00000265727.7	+	9	808	c.729G>C	c.(727-729)ctG>ctC	p.L243L	ADAM22_ENST00000398201.4_Silent_p.L243L|ADAM22_ENST00000398204.4_Silent_p.L243L|ADAM22_ENST00000439864.1_Silent_p.L243L|ADAM22_ENST00000398209.3_Silent_p.L243L|ADAM22_ENST00000315984.7_Silent_p.L243L			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	243	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ACATTGAACTGATGATTGTGA	0.383																																						uc003ujn.2		NaN																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(727-729)CTG>CTC		ADAM metallopeptidase domain 22 isoform 1							248.0	227.0	233.0					7																	87757967		1888	4113	6001	SO:0001819	synonymous_variant	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87757967G>C	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.729G>C	7.37:g.87757967G>C						ADAM22_uc003uji.1_Silent_p.L242L|ADAM22_uc003ujj.1_Silent_p.L243L|ADAM22_uc003ujk.1_Silent_p.L243L|ADAM22_uc003ujl.1_Silent_p.L243L|ADAM22_uc003ujm.2_Silent_p.L243L|ADAM22_uc003ujo.2_Silent_p.L243L|ADAM22_uc003ujp.1_Silent_p.L295L	p.L243L	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		9	808	+	Esophageal squamous(14;0.00202)		243			Peptidase M12B.|Extracellular (Potential).		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	37	c.729G>C	CCDS47637.1																																																																																				0.383	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2		NM_021723		31	51	0	0	0	0.007835	0	31	51		
RBM48	84060	broad.mit.edu	37	7	92158136	92158136	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:92158136G>A	ENST00000265732.5	+	1	50	c.9G>A	c.(7-9)tcG>tcA	p.S3S	PEX1_ENST00000438045.1_5'Flank|PEX1_ENST00000428214.1_5'Flank|RBM48_ENST00000481551.1_Silent_p.S3S|PEX1_ENST00000248633.4_5'Flank	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	3						nucleus (GO:0005634)	RNA binding (GO:0003723)										AGATGGCGTCGAGCGGCGGGG	0.567																																						uc003ulz.2		NaN																	0				ovary(2)	2						c.(7-9)TCG>TCA		hypothetical protein LOC84060							58.0	60.0	59.0					7																	92158136		1963	4134	6097	SO:0001819	synonymous_variant	84060						nucleotide binding	g.chr7:92158136G>A	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.9G>A	7.37:g.92158136G>A						PEX1_uc003uly.2_5'Flank|PEX1_uc011khr.1_5'Flank|PEX1_uc010ley.2_5'Flank|PEX1_uc011khs.1_5'Flank|C7orf64_uc011khu.1_Silent_p.S3S|C7orf64_uc003uma.2_Silent_p.S3S	p.S3S	NM_032120	NP_115496	Q5RL73	CG064_HUMAN			1	50	+			3					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Silent	SNP	ENST00000265732.5	37	c.9G>A	CCDS43615.1																																																																																				0.567	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1		NM_032120		28	35	0	0	0	0.003271	0	28	35		
TRRAP	8295	broad.mit.edu	37	7	98522777	98522777	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:98522777G>A	ENST00000359863.4	+	22	3075	c.2866G>A	c.(2866-2868)Gag>Aag	p.E956K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E955K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E956K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	956					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)			CGCCAACACTGAGCCCTACTA	0.507																																						uc003upp.2		NaN																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(2866-2868)GAG>AAG		transformation/transcription domain-associated							145.0	120.0	129.0					7																	98522777		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.chr7:98522777G>A	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.2866G>A	7.37:g.98522777G>A	ENSP00000352925:p.Glu956Lys					TRRAP_uc011kis.1_Missense_Mutation_p.E956K|TRRAP_uc003upr.2_Missense_Mutation_p.E648K	p.E956K	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		22	3075	+	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)		956					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2866G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	36	5.664581	0.96745	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.64991	-0.13;-0.13	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57184	0.2036	N	0.24115	0.695	0.80722	D	1	P;P;P	0.46220	0.874;0.555;0.801	P;B;B	0.44946	0.465;0.104;0.134	T	0.53070	-0.8490	10	0.33940	T	0.23	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	956;670;956	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	K	956;956;954	ENSP00000352925:E956K;ENSP00000347733:E956K	ENSP00000347733:E956K	E	+	1	0	TRRAP	98360713	1.000000	0.71417	0.975000	0.42487	0.988000	0.76386	9.534000	0.98061	2.941000	0.99782	0.655000	0.94253	GAG		0.507	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1		NM_003496		44	68	0	0	0	0.00361	0	44	68		
TRRAP	8295	broad.mit.edu	37	7	98534849	98534849	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:98534849G>A	ENST00000359863.4	+	29	4391	c.4182G>A	c.(4180-4182)ctG>ctA	p.L1394L	TRRAP_ENST00000446306.3_Silent_p.L1393L|TRRAP_ENST00000355540.3_Silent_p.L1394L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1394					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)			TCAAAGCCCTGAATTCCACCA	0.507																																						uc003upp.2		NaN																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(4180-4182)CTG>CTA		transformation/transcription domain-associated							163.0	164.0	164.0					7																	98534849		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:98534849G>A	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.4182G>A	7.37:g.98534849G>A						TRRAP_uc011kis.1_Silent_p.L1394L|TRRAP_uc003upr.2_Silent_p.L1086L	p.L1394L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		29	4391	+	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)		1394					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.4182G>A	CCDS59066.1																																																																																				0.507	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1		NM_003496		49	203	0	0	0	0.00361	0	49	203		
PILRA	29992	broad.mit.edu	37	7	99995535	99995535	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:99995535G>T	ENST00000198536.2	+	4	919	c.707G>T	c.(706-708)aGg>aTg	p.R236M	PILRA_ENST00000394000.2_Intron|PILRA_ENST00000350573.2_Splice_Site_p.R163M|PILRA_ENST00000453419.1_Splice_Site_p.R163M	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	236					signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCCCAGCCAGGTGAGTGCTG	0.612																																						uc003uuo.1		NaN																	0				skin(1)	1						c.(706-708)AGG>ATG		paired immunoglobulin-like type 2 receptor alpha							71.0	59.0	63.0					7																	99995535		2203	4300	6503	SO:0001630	splice_region_variant	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99995535G>T	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.707+1G>T	7.37:g.99995535G>T						PILRA_uc011kjo.1_Missense_Mutation_p.R163M|PILRA_uc003uup.1_Missense_Mutation_p.R163M|PILRA_uc003uuq.1_Intron	p.R236M	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN			4	919	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		236			Cytoplasmic (Potential).		Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	37	c.707G>T	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960214	0.53400	.	.	ENSG00000085514	ENST00000432297;ENST00000198536;ENST00000453419;ENST00000350573	T;T;T;T	0.50813	1.83;0.73;1.91;0.73	3.36	2.47	0.30058	.	1.166780	0.06605	N	0.754604	T	0.57592	0.2064	L	0.50333	1.59	0.23376	N	0.997805	D;D;D	0.63046	0.986;0.992;0.975	P;P;P	0.57548	0.67;0.823;0.575	T	0.43245	-0.9403	9	.	.	.	.	9.6803	0.40065	0.1149:0.0:0.8851:0.0	.	163;163;236	C9JJ79;Q9UKJ1-3;Q9UKJ1	.;.;PILRA_HUMAN	M	163;236;163;163	ENSP00000415111:R163M;ENSP00000198536:R236M;ENSP00000390026:R163M;ENSP00000340109:R163M	.	R	+	2	0	PILRA	99833471	0.859000	0.29813	0.998000	0.56505	0.114000	0.19823	0.776000	0.26704	0.414000	0.25790	-1.134000	0.01955	AGG		0.612	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1		NM_013439	Missense_Mutation	32	126	1	0	4.65686e-17	0.003755	4.98194e-17	32	126		
TFR2	7036	broad.mit.edu	37	7	100231073	100231073	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:100231073C>T	ENST00000462107.1	-	5	867	c.580G>A	c.(580-582)Gac>Aac	p.D194N	TFR2_ENST00000544242.1_5'Flank|TFR2_ENST00000223051.3_Missense_Mutation_p.D194N|TFR2_ENST00000431692.1_Missense_Mutation_p.D194N			Q9UP52	TFR2_HUMAN	transferrin receptor 2	194					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	TAGTGCGTGTCGGTCCACACG	0.741																																						uc003uvv.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(580-582)GAC>AAC		transferrin receptor 2							23.0	24.0	24.0					7																	100231073		2198	4297	6495	SO:0001583	missense	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100231073C>T	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.580G>A	7.37:g.100231073C>T	ENSP00000420525:p.Asp194Asn					TFR2_uc010lhc.1_5'Flank|TFR2_uc003uvu.1_Missense_Mutation_p.D23N	p.D194N	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN			4	621	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		194			Extracellular (Potential).		A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.580G>A	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101979	0.76983	.	.	ENSG00000106327	ENST00000223051;ENST00000431692;ENST00000462107	T;T;T	0.58940	0.5;0.3;0.5	4.99	4.11	0.48088	.	0.106412	0.64402	D	0.000007	T	0.60521	0.2275	L	0.34521	1.04	0.38140	D	0.93842	D	0.76494	0.999	P	0.61275	0.886	T	0.64706	-0.6344	10	0.51188	T	0.08	-37.2237	10.6908	0.45870	0.1903:0.8097:0.0:0.0	.	194	Q9UP52	TFR2_HUMAN	N	194	ENSP00000223051:D194N;ENSP00000413905:D194N;ENSP00000420525:D194N	ENSP00000223051:D194N	D	-	1	0	TFR2	100069009	1.000000	0.71417	0.864000	0.33941	0.627000	0.37826	4.266000	0.58871	1.329000	0.45376	-0.310000	0.09108	GAC		0.741	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3		NM_003227		20	29	0	0	0	0.00333	0	20	29		
ZAN	7455	broad.mit.edu	37	7	100363105	100363105	+	RNA	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:100363105C>T	ENST00000348028.3	+	0	4563				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATCCGGGCTTCGTCCTCAGTG	0.627																																						uc003uwj.2		NaN																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(4396-4398)TTC>TTT		zonadhesin isoform 3							49.0	51.0	50.0					7																	100363105		2118	4241	6359			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100363105C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100363105C>T						ZAN_uc003uwk.2_Silent_p.F1466F|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Silent_p.F43F	p.F1466F	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		23	4563	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1466			TIL 2.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.4398C>T																																																																																					0.627	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		NM_003386		16	25	0	0	0	0.004007	0	16	25		
FEZF1	389549	broad.mit.edu	37	7	121942239	121942239	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:121942239C>T	ENST00000442488.2	-	4	1307	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.D410N|FEZF1_ENST00000427185.2_Missense_Mutation_p.D364N|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	414					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TTCTTGAGGTCAAAGTTCCTG	0.612																																						uc003vkd.2		NaN																	0				ovary(2)|breast(1)	3						c.(1240-1242)GAC>AAC		FEZ family zinc finger 1 isoform 1							147.0	125.0	133.0					7																	121942239		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121942239C>T	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1240G>A	7.37:g.121942239C>T	ENSP00000411145:p.Asp414Asn					FEZF1_uc003vkc.2_Missense_Mutation_p.D364N|uc010lko.1_5'Flank	p.D414N	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			4	1314	-			414			C2H2-type 6.		A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.1240G>A	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	C	31	5.089722	0.94149	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.07444	3.19;3.19;3.19	5.4	5.4	0.78164	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.17916	0.0430	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.09100	-1.0690	10	0.25106	T	0.35	-29.8519	19.3555	0.94410	0.0:1.0:0.0:0.0	.	414;364	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	N	414;410;364	ENSP00000411145:D414N;ENSP00000332777:D410N;ENSP00000392727:D364N	ENSP00000332777:D410N	D	-	1	0	FEZF1	121729475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.640000	0.83355	2.813000	0.96785	0.561000	0.74099	GAC		0.612	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1		NM_001024613		42	141	0	0	0	0.010771	0	42	141		
IQUB	154865	broad.mit.edu	37	7	123092843	123092843	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:123092843G>C	ENST00000466202.1	-	13	2906	c.2330C>G	c.(2329-2331)tCa>tGa	p.S777*	IQUB_ENST00000324698.6_Nonsense_Mutation_p.S777*	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	777					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGTTGTGTCTGAGTGATACTT	0.398																																						uc003vkn.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(2329-2331)TCA>TGA		IQ motif and ubiquitin domain containing							145.0	138.0	141.0					7																	123092843		2203	4300	6503	SO:0001587	stop_gained	154865							g.chr7:123092843G>C	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.2330C>G	7.37:g.123092843G>C	ENSP00000417769:p.Ser777*					IQUB_uc011kny.1_Nonsense_Mutation_p.S110*|IQUB_uc003vko.2_Nonsense_Mutation_p.S777*|IQUB_uc010lkt.2_RNA	p.S777*	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			13	2907	-			777					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Nonsense_Mutation	SNP	ENST00000466202.1	37	c.2330C>G	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691859	0.88735	.	.	ENSG00000164675	ENST00000466202;ENST00000324698	.	.	.	5.66	-0.676	0.11361	.	3.422580	0.00481	N	0.000121	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	3.8222	0.08841	0.3129:0.0:0.4195:0.2676	.	.	.	.	X	777	.	ENSP00000324882:S777X	S	-	2	0	IQUB	122880079	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	0.157000	0.16402	-0.100000	0.12241	0.579000	0.79373	TCA		0.398	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1		NM_178827		18	19	0	0	0	0.008871	0	18	19		
RBM28	55131	broad.mit.edu	37	7	127978389	127978389	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:127978389C>T	ENST00000223073.2	-	5	570	c.456G>A	c.(454-456)aaG>aaA	p.K152K	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	152	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AACCGCGCATCTTCCCATCTG	0.418																																						uc003vmp.2		NaN																	0				ovary(2)	2						c.(454-456)AAG>AAA		RNA binding motif protein 28							90.0	84.0	86.0					7																	127978389		2203	4300	6503	SO:0001819	synonymous_variant	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127978389C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.456G>A	7.37:g.127978389C>T						RBM28_uc003vmo.2_5'Flank|RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Silent_p.K99K	p.K152K	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN			5	571	-			152			RRM 2.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Silent	SNP	ENST00000223073.2	37	c.456G>A	CCDS5801.1																																																																																				0.418	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2		NM_018077		14	51	0	0	0	0.00499	0	14	51		
KIAA1147	57189	broad.mit.edu	37	7	141364706	141364706	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:141364706C>A	ENST00000536163.1	-	7	1100	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H	KIAA1147_ENST00000482493.1_Missense_Mutation_p.Q263H|RP5-894A10.6_ENST00000602609.1_RNA	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	367										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GCCACTACCTCTGCTCGTTGA	0.597																																						uc003vwk.2		NaN																	0				ovary(1)	1						c.(1099-1101)CAG>CAT		hypothetical protein LOC57189							64.0	66.0	65.0					7																	141364706		2023	4162	6185	SO:0001583	missense	57189							g.chr7:141364706C>A	AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.1101G>T	7.37:g.141364706C>A	ENSP00000445768:p.Gln367His						p.Q367H	NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN			7	1101	-	Melanoma(164;0.0171)		367					Q9ULS3	Missense_Mutation	SNP	ENST00000536163.1	37	c.1101G>T	CCDS47726.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174733	0.38413	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.47764	0.1463	L	0.44542	1.39	0.58432	D	0.999991	B	0.29378	0.243	B	0.31547	0.132	T	0.37079	-0.9721	9	0.13108	T	0.6	-29.5407	12.4771	0.55821	0.0:0.9201:0.0:0.0799	.	367	A4D1U4	LCHN_HUMAN	H	367;263	.	ENSP00000297761:Q367H	Q	-	3	2	KIAA1147	141011175	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	2.814000	0.48010	2.447000	0.82792	0.561000	0.74099	CAG		0.597	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1				11	19	1	0	9.16793e-09	0.00499	9.48456e-09	11	19		
NOBOX	135935	broad.mit.edu	37	7	144097329	144097329	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:144097329C>T	ENST00000467773.1	-	5	920	c.921G>A	c.(919-921)caG>caA	p.Q307Q	NOBOX_ENST00000223140.5_Silent_p.Q222Q|NOBOX_ENST00000483238.1_Silent_p.Q307Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	307					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CCCCCACCGTCTGGGCAATCT	0.552																																						uc011kue.1		NaN																	0				ovary(1)	1						c.(919-921)CAG>CAA		NOBOX oogenesis homeobox							77.0	73.0	74.0					7																	144097329		1892	4112	6004	SO:0001819	synonymous_variant	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144097329C>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.921G>A	7.37:g.144097329C>T							p.Q307Q	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			5	921	-	Melanoma(164;0.14)		307			Homeobox.		A6NCD3|A8MZN5	Silent	SNP	ENST00000467773.1	37	c.921G>A																																																																																					0.552	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1		XM_001134420		30	60	0	0	0	0.002836	0	30	60		
NOS3	4846	broad.mit.edu	37	7	150696118	150696118	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:150696118G>A	ENST00000484524.1	+	7	901	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	NOS3_ENST00000297494.3_Missense_Mutation_p.E301K|NOS3_ENST00000467517.1_Missense_Mutation_p.E301K|NOS3_ENST00000461406.1_Missense_Mutation_p.E95K	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATCCCCCAGAACTCTTCCT	0.657																																						uc003wif.2		NaN																	0				central_nervous_system(5)|large_intestine(2)|skin(1)	8						c.(901-903)GAA>AAA		nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						71.0	90.0	84.0					7																	150696118		2202	4291	6493	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150696118G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.901G>A	7.37:g.150696118G>A	ENSP00000420215:p.Glu301Lys					NOS3_uc011kuy.1_Missense_Mutation_p.E95K|NOS3_uc011kuz.1_Missense_Mutation_p.E301K|NOS3_uc011kva.1_Missense_Mutation_p.E301K|NOS3_uc011kvb.1_Missense_Mutation_p.E301K	p.E301K	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	8	1197	+	all_neural(206;0.219)		301			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.901G>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	g	14.60	2.583328	0.46006	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.13	5.13	0.70059	Nitric oxide synthase, oxygenase domain (2);	0.094256	0.44285	D	0.000465	T	0.23727	0.0574	L	0.35854	1.095	0.46631	D	0.999138	B;B;P;B;B	0.39216	0.018;0.018;0.664;0.232;0.199	B;B;B;B;B	0.42030	0.011;0.011;0.373;0.172;0.035	T	0.02121	-1.1210	10	0.66056	D	0.02	-8.3512	9.9878	0.41852	0.0927:0.0:0.9073:0.0	.	301;301;301;95;301	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	K	301;95;301;301	ENSP00000297494:E301K;ENSP00000417143:E95K;ENSP00000420215:E301K;ENSP00000420551:E301K	ENSP00000297494:E301K	E	+	1	0	NOS3	150327051	1.000000	0.71417	0.963000	0.40424	0.191000	0.23601	6.733000	0.74796	2.537000	0.85549	0.637000	0.83480	GAA		0.657	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1		NM_000603		44	227	0	0	0	0.00361	0	44	227		
ATG9B	285973	broad.mit.edu	37	7	150714325	150714325	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:150714325G>C	ENST00000377974.2	-	9	2162	c.2087C>G	c.(2086-2088)tCt>tGt	p.S696C	ATG9B_ENST00000444312.1_Missense_Mutation_p.S182C|ATG9B_ENST00000605938.1_Missense_Mutation_p.S696C|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	696					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCACGCTGAGACAGCGAGGC	0.592																																						uc011kvc.1		NaN																	0				ovary(1)	1						c.(2086-2088)TCT>TGT		ATG9 autophagy related 9 homolog B							29.0	33.0	32.0					7																	150714325		2062	4208	6270	SO:0001583	missense	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150714325G>C	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.2087C>G	7.37:g.150714325G>C	ENSP00000475005:p.Ser696Cys					ATG9B_uc003wig.3_RNA	p.S696C	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	2163	-	all_neural(206;0.219)		696			Cytoplasmic (By similarity).		A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37	c.2087C>G		.	.	.	.	.	.	.	.	.	.	G	12.64	1.997262	0.35226	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	5.08	4.19	0.49359	.	0.130074	0.53938	D	0.000050	T	0.50154	0.1599	.	.	.	.	.	.	P	0.46952	0.887	P	0.45913	0.497	T	0.63256	-0.6678	7	0.41790	T	0.15	-2.7246	10.6464	0.45623	0.0:0.0:0.6517:0.3483	.	696	Q674R7	ATG9B_HUMAN	C	696;182;696	.	ENSP00000444232:S696C	S	-	2	0	AC010973.1	150345258	1.000000	0.71417	0.478000	0.27316	0.568000	0.35870	4.810000	0.62598	1.109000	0.41680	0.491000	0.48974	TCT		0.592	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_173681		23	31	0	0	0	0.00632	0	23	31		
ATG9B	285973	broad.mit.edu	37	7	150714331	150714331	+	Missense_Mutation	SNP	G	G	A	rs556638419	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:150714331G>A	ENST00000377974.2	-	9	2156	c.2081C>T	c.(2080-2082)tCg>tTg	p.S694L	ATG9B_ENST00000444312.1_Missense_Mutation_p.S180L|ATG9B_ENST00000605938.1_Missense_Mutation_p.S694L|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	694					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGAGACAGCGAGGCCTCAGT	0.582													G|||	4	0.000798722	0.0	0.0	5008	,	,		18310	0.0		0.0	False		,,,				2504	0.0041					uc011kvc.1		NaN																	0				ovary(1)	1						c.(2080-2082)TCG>TTG		ATG9 autophagy related 9 homolog B							28.0	32.0	30.0					7																	150714331		2065	4212	6277	SO:0001583	missense	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150714331G>A	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.2081C>T	7.37:g.150714331G>A	ENSP00000475005:p.Ser694Leu					ATG9B_uc003wig.3_RNA	p.S694L	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	2157	-	all_neural(206;0.219)		694			Cytoplasmic (By similarity).		A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37	c.2081C>T		.	.	.	.	.	.	.	.	.	.	G	12.74	2.028004	0.35797	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	.	.	.	.	.	.	D	0.61080	0.989	P	0.55713	0.782	T	0.74982	-0.3478	7	0.49607	T	0.09	-10.7783	15.9742	0.80049	0.0:0.0:1.0:0.0	.	694	Q674R7	ATG9B_HUMAN	L	694;180;694	.	ENSP00000444232:S694L	S	-	2	0	AC010973.1	150345264	1.000000	0.71417	0.947000	0.38551	0.427000	0.31564	9.753000	0.98904	2.358000	0.79984	0.491000	0.48974	TCG		0.582	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_173681		24	35	0	0	0	0.00632	0	24	35		
WDR60	55112	broad.mit.edu	37	7	158672547	158672547	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:158672547C>T	ENST00000407559.3	+	5	904	c.746C>T	c.(745-747)tCt>tTt	p.S249F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	249					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AATTCATTCTCTGACAAAGGG	0.398																																						uc003woe.3		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(745-747)TCT>TTT		WD repeat domain 60							67.0	70.0	69.0					7																	158672547		1848	4082	5930	SO:0001583	missense	55112							g.chr7:158672547C>T		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.746C>T	7.37:g.158672547C>T	ENSP00000384290:p.Ser249Phe					WDR60_uc010lqv.2_RNA	p.S249F	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	5	904	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	249					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.746C>T	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209608	0.39003	.	.	ENSG00000126870	ENST00000407559	T	0.24908	1.83	4.72	2.75	0.32379	.	0.776346	0.12095	N	0.500043	T	0.17662	0.0424	L	0.32530	0.975	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.17561	-1.0365	10	0.32370	T	0.25	-3.7955	6.5906	0.22644	0.1761:0.7239:0.0:0.1	.	249	Q8WVS4	WDR60_HUMAN	F	249	ENSP00000384290:S249F	ENSP00000384290:S249F	S	+	2	0	WDR60	158365308	0.001000	0.12720	0.007000	0.13788	0.054000	0.15201	0.121000	0.15667	1.091000	0.41335	0.650000	0.86243	TCT		0.398	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1		NM_018051		12	11	0	0	0	0.001368	0	12	11		
NEFM	4741	broad.mit.edu	37	8	24771416	24771416	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:24771416C>T	ENST00000221166.5	+	1	892	c.110C>T	c.(109-111)tCg>tTg	p.S37L	RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.S37L|NEFM_ENST00000518131.1_Missense_Mutation_p.S37L|NEFM_ENST00000433454.2_5'Flank|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	37	Head.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGCTTCCGCTCGCAGTCGTGG	0.697																																						uc003xed.3		NaN																	0				breast(1)	1						c.(109-111)TCG>TTG		neurofilament, medium polypeptide 150kDa isoform							17.0	19.0	18.0					8																	24771416		2149	4201	6350	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24771416C>T	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.110C>T	8.37:g.24771416C>T	ENSP00000221166:p.Ser37Leu					NEFM_uc011lac.1_Missense_Mutation_p.S37L|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	p.S37L	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	143	+		Prostate(55;0.157)	37			Head.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.110C>T	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042094	0.93685	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.87179	-2.22;-2.22;-2.22	3.97	3.97	0.46021	Intermediate filament head, DNA-binding domain (1);	0.000000	0.41605	D	0.000850	D	0.92047	0.7480	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	D	0.92514	0.6019	10	0.52906	T	0.07	.	16.5972	0.84799	0.0:1.0:0.0:0.0	.	37;37	E7EMV2;P07197	.;NFM_HUMAN	L	37	ENSP00000221166:S37L;ENSP00000427872:S37L;ENSP00000410137:S37L	ENSP00000221166:S37L	S	+	2	0	NEFM	24827321	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.373000	0.66162	2.199000	0.70637	0.467000	0.42956	TCG		0.697	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2		NM_005382		17	13	0	0	0	0.012319	0	17	13		
CHRNA6	8973	broad.mit.edu	37	8	42611280	42611280	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:42611280C>T	ENST00000276410.2	-	5	1417	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	CHRNA6_ENST00000534622.1_Silent_p.L339L|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	354					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	GCCACCTCATCAGCAGGACCT	0.587																																						uc003xpj.2		NaN																	0					0						c.(1060-1062)CTG>CTA		cholinergic receptor, nicotinic, alpha 6							64.0	62.0	62.0					8																	42611280		2203	4300	6503	SO:0001819	synonymous_variant	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611280C>T	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1062G>A	8.37:g.42611280C>T						CHRNA6_uc011lcw.1_Silent_p.L339L	p.L354L	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1108	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	354			Cytoplasmic.		B2R8V4|B4DQH1	Silent	SNP	ENST00000276410.2	37	c.1062G>A	CCDS6135.1																																																																																				0.587	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1				53	38	0	0	0	0.00361	0	53	38		
ST18	9705	broad.mit.edu	37	8	53062480	53062480	+	Missense_Mutation	SNP	G	G	C	rs267601943		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:53062480G>C	ENST00000276480.7	-	16	2547	c.1864C>G	c.(1864-1866)Cga>Gga	p.R622G	RP11-26M5.3_ENST00000520496.1_RNA	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	622					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCCAGGATTCGATTTTTTTTC	0.413																																						uc003xqz.2		NaN																	0				ovary(4)|skin(1)	5						c.(1864-1866)CGA>GGA		suppression of tumorigenicity 18							227.0	213.0	217.0					8																	53062480		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53062480G>C	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1864C>G	8.37:g.53062480G>C	ENSP00000276480:p.Arg622Gly					ST18_uc011ldq.1_Missense_Mutation_p.R269G|ST18_uc011ldr.1_Missense_Mutation_p.R587G|ST18_uc011lds.1_Missense_Mutation_p.R527G|ST18_uc003xra.2_Missense_Mutation_p.R622G|ST18_uc003xrb.2_Missense_Mutation_p.R622G	p.R622G	NM_014682	NP_055497	O60284	ST18_HUMAN			11	2020	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	622					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1864C>G	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125743	0.77436	.	.	ENSG00000147488	ENST00000276480	T	0.60797	0.16	5.53	5.53	0.82687	Myelin transcription factor 1 (1);	0.064539	0.64402	D	0.000006	T	0.75510	0.3859	M	0.69358	2.11	0.58432	D	0.999992	D	0.71674	0.998	D	0.73380	0.98	T	0.76110	-0.3079	10	0.56958	D	0.05	-11.0041	19.4629	0.94924	0.0:0.0:1.0:0.0	.	622	O60284	ST18_HUMAN	G	622	ENSP00000276480:R622G	ENSP00000276480:R622G	R	-	1	2	ST18	53225033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.208000	0.65203	2.612000	0.88384	0.460000	0.39030	CGA		0.413	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1				16	77	0	0	0	0.00499	0	16	77		
ST18	9705	broad.mit.edu	37	8	53084386	53084386	+	Silent	SNP	G	G	A	rs144551525		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:53084386G>A	ENST00000276480.7	-	10	1718	c.1035C>T	c.(1033-1035)atC>atT	p.I345I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	345					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CACCCATGTCGATAACTTTGG	0.403																																						uc003xqz.2		NaN																	0				ovary(4)|skin(1)	5						c.(1033-1035)ATC>ATT		suppression of tumorigenicity 18		G		0,4406		0,0,2203	138.0	129.0	132.0		1035	-7.1	0.0	8	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ST18	NM_014682.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		345/1048	53084386	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084386G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1035C>T	8.37:g.53084386G>A						ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.I310I|ST18_uc011lds.1_Silent_p.I250I|ST18_uc003xra.2_Silent_p.I345I|ST18_uc003xrb.2_Silent_p.I345I	p.I345I	NM_014682	NP_055497	O60284	ST18_HUMAN			5	1191	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	345					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.1035C>T	CCDS6149.1																																																																																				0.403	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1				37	159	0	0	0	0.00361	0	37	159		
RP1	6101	broad.mit.edu	37	8	55537511	55537511	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:55537511G>A	ENST00000220676.1	+	4	1217	c.1069G>A	c.(1069-1071)Ggt>Agt	p.G357S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	357					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGTAAAACTGGTCCTTCTAA	0.363																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NaN																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(1069-1071)GGT>AGT		retinitis pigmentosa RP1 protein							61.0	58.0	59.0					8																	55537511		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537511G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1069G>A	8.37:g.55537511G>A	ENSP00000220676:p.Gly357Ser					RP1_uc011ldy.1_Intron	p.G357S	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1217	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	357						Missense_Mutation	SNP	ENST00000220676.1	37	c.1069G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	6.341	0.431028	0.12045	.	.	ENSG00000104237	ENST00000220676	T	0.20738	2.05	5.08	3.27	0.37495	.	0.976806	0.08410	N	0.950066	T	0.11623	0.0283	N	0.05383	-0.06	0.28939	N	0.891117	B	0.23540	0.087	B	0.20577	0.03	T	0.24225	-1.0166	10	0.16896	T	0.51	.	11.4999	0.50430	0.1477:0.0:0.8523:0.0	.	357	P56715	RP1_HUMAN	S	357	ENSP00000220676:G357S	ENSP00000220676:G357S	G	+	1	0	RP1	55700064	1.000000	0.71417	0.964000	0.40570	0.639000	0.38242	2.205000	0.42770	1.143000	0.42306	0.655000	0.94253	GGT		0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2		NM_006269		7	18	0	0	0	0.00308	0	7	18		
RP1	6101	broad.mit.edu	37	8	55540055	55540055	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:55540055C>T	ENST00000220676.1	+	4	3761	c.3613C>T	c.(3613-3615)Cca>Tca	p.P1205S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1205					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGACATGGTTCCAATAGATCT	0.423																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NaN																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(3613-3615)CCA>TCA		retinitis pigmentosa RP1 protein							128.0	128.0	128.0					8																	55540055		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540055C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3613C>T	8.37:g.55540055C>T	ENSP00000220676:p.Pro1205Ser					RP1_uc011ldy.1_Intron	p.P1205S	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3761	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1205						Missense_Mutation	SNP	ENST00000220676.1	37	c.3613C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	4.368	0.067763	0.08436	.	.	ENSG00000104237	ENST00000220676	T	0.22134	1.97	5.49	3.65	0.41850	.	0.111999	0.40728	N	0.001029	T	0.14399	0.0348	L	0.36672	1.1	0.09310	N	1	P	0.41978	0.767	B	0.36922	0.236	T	0.12656	-1.0539	10	0.44086	T	0.13	.	7.907	0.29767	0.0:0.7237:0.1393:0.1369	.	1205	P56715	RP1_HUMAN	S	1205	ENSP00000220676:P1205S	ENSP00000220676:P1205S	P	+	1	0	RP1	55702608	0.001000	0.12720	0.010000	0.14722	0.012000	0.07955	0.260000	0.18424	1.427000	0.47276	0.655000	0.94253	CCA		0.423	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2		NM_006269		20	77	0	0	0	0.002299	0	20	77		
NCOA2	10499	broad.mit.edu	37	8	71036267	71036267	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:71036267C>T	ENST00000452400.2	-	21	4326	c.4145G>A	c.(4144-4146)aGc>aAc	p.S1382N	NCOA2_ENST00000267974.4_Missense_Mutation_p.S470N	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1382					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ACTGTACATGCTGGTGTTTGC	0.473			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1		NaN		Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	0				lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(4144-4146)AGC>AAC		nuclear receptor coactivator 2							133.0	126.0	128.0					8																	71036267		2189	4274	6463	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71036267C>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.4145G>A	8.37:g.71036267C>T	ENSP00000399968:p.Ser1382Asn					NCOA2_uc011lfb.1_Missense_Mutation_p.S470N	p.S1382N	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		21	4307	-	Breast(64;0.201)		1382					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.4145G>A	CCDS47872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.23|16.23	3.065163|3.065163	0.55432|0.55432	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.06768	.|4.82;3.26	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.041576	.|0.85682	.|D	.|0.000000	T|T	0.06872|0.06872	0.0175|0.0175	N|N	0.17474|0.17474	0.49|0.49	0.41362|0.41362	D|D	0.987433|0.987433	.|B;B	.|0.28880	.|0.226;0.013	.|B;B	.|0.29524	.|0.103;0.006	T|T	0.36744|0.36744	-0.9735|-0.9735	5|10	.|0.09084	.|T	.|0.74	.|.	20.142|20.142	0.98061|0.98061	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|470;1382	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	T|N	483|1382;470	.|ENSP00000399968:S1382N;ENSP00000267974:S470N	.|ENSP00000267974:S470N	A|S	-|-	1|2	0|0	NCOA2|NCOA2	71198821|71198821	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.335000|4.335000	0.59298|0.59298	2.754000|2.754000	0.94517|0.94517	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.473	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1				40	23	0	0	0	0.00361	0	40	23		
FAM92A1	137392	broad.mit.edu	37	8	94740514	94740514	+	Missense_Mutation	SNP	T	T	C	rs190789560	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:94740514T>C	ENST00000518322.1	+	9	1000	c.859T>C	c.(859-861)Ttt>Ctt	p.F287L	FAM92A1_ENST00000423990.2_Missense_Mutation_p.F249L|FAM92A1_ENST00000520363.1_3'UTR|FAM92A1_ENST00000517718.1_Missense_Mutation_p.F132L|RBM12B_ENST00000520961.1_5'Flank	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	287										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGAAGAAAATTTTCTTAAGTA	0.328																																						uc010maq.2		NaN																	0					0						c.(859-861)TTT>CTT		hypothetical protein LOC137392							84.0	84.0	84.0					8																	94740514		1832	4080	5912	SO:0001583	missense	137392							g.chr8:94740514T>C		CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343			30452	protein-coding gene	gene with protein product						12477932	Standard	XM_005250783		Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.859T>C	8.37:g.94740514T>C	ENSP00000429367:p.Phe287Leu					FAM92A1_uc003yfv.3_RNA|FAM92A1_uc003yfx.3_RNA|FAM92A1_uc003yfw.3_RNA|FAM92A1_uc010mar.2_Missense_Mutation_p.F94L	p.F287L	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		8	962	+	Breast(36;2.4e-06)		287					A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	Missense_Mutation	SNP	ENST00000518322.1	37	c.859T>C	CCDS47892.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.235987	0.39498	.	.	ENSG00000188343	ENST00000518322;ENST00000423990;ENST00000436526;ENST00000517718;ENST00000521641	T;T;T;T	0.40225	1.64;1.61;1.04;1.04	5.43	5.43	0.79202	.	.	.	.	.	T	0.25419	0.0618	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.07635	-1.0762	9	0.87932	D	0	.	12.1525	0.54057	0.0:0.0:0.0:1.0	.	249;287	A1XBS5-2;A1XBS5	.;F92A1_HUMAN	L	287;249;249;132;132	ENSP00000429367:F287L;ENSP00000401774:F249L;ENSP00000428874:F132L;ENSP00000428751:F132L	ENSP00000401774:F249L	F	+	1	0	FAM92A1	94809690	1.000000	0.71417	0.706000	0.30403	0.072000	0.16883	2.658000	0.46733	2.181000	0.69327	0.533000	0.62120	TTT		0.328	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377890.4		NM_145269		28	9	0	0	0	0.010818	0	28	9		
ODF1	4956	broad.mit.edu	37	8	103572771	103572771	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:103572771C>G	ENST00000285402.3	+	2	568	c.412C>G	c.(412-414)Caa>Gaa	p.Q138E	ODF1_ENST00000518835.1_5'UTR	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	138					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TGAACCCGATCAAGTCAAAGT	0.448																																						uc003ykt.2		NaN																	0				ovary(2)	2						c.(412-414)CAA>GAA		outer dense fiber of sperm tails 1							168.0	150.0	156.0					8																	103572771		2203	4300	6503	SO:0001583	missense	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103572771C>G	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.412C>G	8.37:g.103572771C>G	ENSP00000285402:p.Gln138Glu						p.Q138E	NM_024410	NP_077721	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		2	520	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		138					Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	c.412C>G	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352013	0.61183	.	.	ENSG00000155087	ENST00000285402	D	0.89343	-2.5	5.51	5.51	0.81932	Heat shock protein Hsp20 (2);	0.118206	0.38720	N	0.001582	T	0.79088	0.4387	N	0.00446	-1.495	0.80722	D	1	P	0.38767	0.646	P	0.58928	0.848	T	0.78319	-0.2250	10	0.02654	T	1	-17.5662	14.9045	0.70709	0.0:1.0:0.0:0.0	.	138	Q14990	ODFP1_HUMAN	E	138	ENSP00000285402:Q138E	ENSP00000285402:Q138E	Q	+	1	0	ODF1	103641947	0.976000	0.34144	0.985000	0.45067	0.870000	0.49936	2.473000	0.45145	2.595000	0.87683	0.555000	0.69702	CAA		0.448	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1				130	55	0	0	0	0.00361	0	130	55		
ODF1	4956	broad.mit.edu	37	8	103572958	103572958	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:103572958C>G	ENST00000285402.3	+	2	755	c.599C>G	c.(598-600)tCt>tGt	p.S200C	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	200					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AAGATCGAGTCTCCTTGCTAC	0.572																																						uc003ykt.2		NaN																	0				ovary(2)	2						c.(598-600)TCT>TGT		outer dense fiber of sperm tails 1							109.0	80.0	89.0					8																	103572958		2203	4300	6503	SO:0001583	missense	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103572958C>G	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.599C>G	8.37:g.103572958C>G	ENSP00000285402:p.Ser200Cys						p.S200C	NM_024410	NP_077721	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		2	707	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		200					Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	c.599C>G	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739594	0.49045	.	.	ENSG00000155087	ENST00000285402	D	0.87029	-2.2	5.06	5.06	0.68205	Heat shock protein Hsp20 (1);	0.251308	0.28796	N	0.014120	T	0.75788	0.3897	N	0.08118	0	0.80722	D	1	P	0.34909	0.475	B	0.33620	0.167	T	0.79754	-0.1670	10	0.87932	D	0	-17.885	13.9183	0.63914	0.0:1.0:0.0:0.0	.	200	Q14990	ODFP1_HUMAN	C	200	ENSP00000285402:S200C	ENSP00000285402:S200C	S	+	2	0	ODF1	103642134	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.754000	0.55189	2.367000	0.80283	0.555000	0.69702	TCT		0.572	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1				29	19	0	0	0	0.00361	0	29	19		
ATP6V1C1	528	broad.mit.edu	37	8	104064968	104064968	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:104064968C>G	ENST00000395862.3	+	6	550	c.391C>G	c.(391-393)Cag>Gag	p.Q131E	ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.Q56E|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.Q56E|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.Q131E	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	131					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GGGAGTAACTCAGATTGATAA	0.318																																						uc003ykz.3		NaN																	0					0						c.(391-393)CAG>GAG		ATPase, H+ transporting, lysosomal V1 subunit							75.0	81.0	79.0					8																	104064968		2203	4299	6502	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104064968C>G	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.391C>G	8.37:g.104064968C>G	ENSP00000379203:p.Gln131Glu					ATP6V1C1_uc010mbz.2_Missense_Mutation_p.Q56E|ATP6V1C1_uc003yla.2_Missense_Mutation_p.Q131E|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.Q56E	p.Q131E	NM_001695	NP_001686	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		6	636	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		131						Missense_Mutation	SNP	ENST00000395862.3	37	c.391C>G	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613445	0.87359	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	M	0.89601	3.045	0.80722	D	1	P	0.50443	0.935	P	0.53760	0.734	T	0.72896	-0.4153	10	0.40728	T	0.16	.	20.0012	0.97409	0.0:1.0:0.0:0.0	.	131	P21283	VATC1_HUMAN	E	56;131;56;131	ENSP00000428204:Q56E;ENSP00000379203:Q131E;ENSP00000430129:Q56E;ENSP00000430282:Q131E	ENSP00000379203:Q131E	Q	+	1	0	ATP6V1C1	104134144	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.430000	0.80321	2.735000	0.93741	0.558000	0.71614	CAG		0.318	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1		NM_001695		9	74	0	0	0	0.008291	0	9	74		
GSDMC	56169	broad.mit.edu	37	8	130789625	130789625	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:130789625G>C	ENST00000276708.4	-	2	1090	c.209C>G	c.(208-210)tCt>tGt	p.S70C		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	70						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TAGGACTGAAGAACTTGGCTC	0.443																																						uc003ysr.2		NaN																	0				ovary(2)|skin(1)	3						c.(208-210)TCT>TGT		melanoma-derived leucine zipper, extra-nuclear							92.0	81.0	85.0					8																	130789625		2203	4300	6503	SO:0001583	missense	56169					mitochondrion		g.chr8:130789625G>C	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.209C>G	8.37:g.130789625G>C	ENSP00000276708:p.Ser70Cys						p.S70C	NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN			2	1091	-			70					Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	c.209C>G	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	G	8.873	0.949755	0.18431	.	.	ENSG00000147697	ENST00000276708	T	0.24151	1.87	4.15	2.31	0.28768	.	0.628619	0.14955	N	0.288694	T	0.32526	0.0832	L	0.32530	0.975	0.22366	N	0.999169	D	0.89917	1.0	D	0.68943	0.961	T	0.06552	-1.0820	10	0.46703	T	0.11	.	5.8802	0.18852	0.2491:0.0:0.7509:0.0	.	70	Q9BYG8	GSDMC_HUMAN	C	70	ENSP00000276708:S70C	ENSP00000276708:S70C	S	-	2	0	GSDMC	130858807	0.098000	0.21812	0.449000	0.26957	0.131000	0.20780	1.444000	0.35068	0.503000	0.28060	-0.218000	0.12543	TCT		0.443	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1				34	73	0	0	0	0.010771	0	34	73		
OC90	729330	broad.mit.edu	37	8	133044290	133044290	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:133044290C>A	ENST00000443356.2	-	13	1003	c.917G>T	c.(916-918)aGa>aTa	p.R306I	OC90_ENST00000603859.1_Missense_Mutation_p.R290I|OC90_ENST00000262283.5_Missense_Mutation_p.R502I|OC90_ENST00000254627.3_Missense_Mutation_p.R290I			Q02509	OC90_HUMAN	otoconin 90	306					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GAAGGTGAATCTGTCACAGGC	0.547																																						uc003ytg.2		NaN																	0				ovary(2)|skin(1)	3						c.(868-870)AGA>ATA		otoconin 90							113.0	111.0	112.0					8																	133044290		2069	4220	6289	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133044290C>A	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.917G>T	8.37:g.133044290C>A	ENSP00000390050:p.Arg306Ile					OC90_uc011lix.1_Missense_Mutation_p.R290I	p.R290I	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		11	869	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		306					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.869G>T		.	.	.	.	.	.	.	.	.	.	C	20.5	3.998664	0.74818	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.37752	1.19;1.21;1.18	5.91	5.02	0.67125	.	0.193535	0.47093	N	0.000254	T	0.49915	0.1585	L	0.34521	1.04	0.52501	D	0.999956	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.53732	-0.8397	10	0.87932	D	0	-25.2929	15.1668	0.72833	0.1422:0.8578:0.0:0.0	.	290;306	Q02509-2;Q02509	.;OC90_HUMAN	I	290;306;502	ENSP00000254627:R290I;ENSP00000390050:R306I;ENSP00000262283:R502I	ENSP00000254627:R290I	R	-	2	0	RP11-240B13.2;OC90	133113472	0.999000	0.42202	0.785000	0.31869	0.722000	0.41435	3.074000	0.50065	1.468000	0.48064	0.655000	0.94253	AGA		0.547	OC90-201	KNOWN	basic	protein_coding	protein_coding			NM_001080399		41	275	1	0	1.47857e-17	0.00361	1.58694e-17	41	275		
TMEM71	137835	broad.mit.edu	37	8	133771110	133771110	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:133771110G>C	ENST00000356838.3	-	2	158	c.16C>G	c.(16-18)Caa>Gaa	p.Q6E	TMEM71_ENST00000377901.4_Missense_Mutation_p.Q6E|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000523829.1_Missense_Mutation_p.Q6E	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	6						integral component of membrane (GO:0016021)		p.Q6E(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GACATCAGTTGAGATATTCGG	0.348																																						uc003ytp.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(16-18)CAA>GAA		transmembrane protein 71 isoform 1							188.0	174.0	178.0					8																	133771110		2203	4300	6503	SO:0001583	missense	137835					integral to membrane		g.chr8:133771110G>C	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.16C>G	8.37:g.133771110G>C	ENSP00000349296:p.Gln6Glu					TMEM71_uc003ytn.2_Missense_Mutation_p.Q6E|TMEM71_uc003yto.2_Missense_Mutation_p.Q6E	p.Q6E	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		2	245	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		6					Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	c.16C>G	CCDS6366.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874933	0.51695	.	.	ENSG00000165071	ENST00000523829;ENST00000356838;ENST00000377901;ENST00000519187;ENST00000519304	.	.	.	5.49	4.6	0.57074	.	0.765404	0.12512	N	0.462371	T	0.34077	0.0885	M	0.65975	2.015	0.21652	N	0.999604	P;P;P	0.52316	0.873;0.873;0.952	B;B;B	0.39119	0.291;0.291;0.291	T	0.26815	-1.0092	9	0.23302	T	0.38	-0.0565	11.4128	0.49935	0.083:0.0:0.917:0.0	.	6;6;6	Q6P5X7;Q6P5X7-3;Q6P5X7-2	TMM71_HUMAN;.;.	E	6	.	ENSP00000349296:Q6E	Q	-	1	0	TMEM71	133840292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.926000	0.56491	2.746000	0.94184	0.655000	0.94253	CAA		0.348	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1		NM_144649		50	254	0	0	0	0.00361	0	50	254		
EPPK1	83481	broad.mit.edu	37	8	144940345	144940345	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:144940345C>T	ENST00000525985.1	-	2	7148	c.7077G>A	c.(7075-7077)gtG>gtA	p.V2359V				P58107	EPIPL_HUMAN	epiplakin 1	2359						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGCCACGTCCACGGGCACGC	0.692																																						uc003zaa.1		NaN																	0				pancreas(1)|skin(1)	2						c.(15085-15087)GTG>GTA		epiplakin 1							198.0	193.0	195.0					8																	144940345		2173	4247	6420	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940345C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7077G>A	8.37:g.144940345C>T							p.V5029V	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	15100	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		5029			Plectin 64.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.15087G>A																																																																																					0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308		34	663	0	0	0	0.009718	0	34	663		
EPPK1	83481	broad.mit.edu	37	8	144943935	144943935	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:144943935C>G	ENST00000525985.1	-	2	3558	c.3487G>C	c.(3487-3489)Gag>Cag	p.E1163Q				P58107	EPIPL_HUMAN	epiplakin 1	1163						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCACGTCCTCCAGCAGGCCC	0.672																																						uc003zaa.1		NaN																	0				pancreas(1)|skin(1)	2						c.(3487-3489)GAG>CAG		epiplakin 1							11.0	13.0	12.0					8																	144943935		2097	4234	6331	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144943935C>G	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3487G>C	8.37:g.144943935C>G	ENSP00000436337:p.Glu1163Gln						p.E1163Q	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	3500	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1163					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.3487G>C		.	.	.	.	.	.	.	.	.	.	C	16.07	3.017413	0.54576	.	.	ENSG00000227184	ENST00000525985	T	0.74842	-0.88	4.53	4.53	0.55603	.	.	.	.	.	T	0.59609	0.2206	L	0.29908	0.895	0.09310	N	1	B	0.31077	0.307	B	0.24155	0.051	T	0.47032	-0.9148	9	0.25106	T	0.35	.	10.6197	0.45472	0.0:0.805:0.195:0.0	.	1163	E9PPU0	.	Q	1163	ENSP00000436337:E1163Q	ENSP00000436337:E1163Q	E	-	1	0	EPPK1	145015923	0.000000	0.05858	0.139000	0.22197	0.005000	0.04900	0.047000	0.14056	2.341000	0.79615	0.561000	0.74099	GAG		0.672	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308		5	23	0	0	0	0.001168	0	5	23		
HSF1	3297	broad.mit.edu	37	8	145535411	145535411	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:145535411C>G	ENST00000528838.1	+	8	909	c.749C>G	c.(748-750)tCc>tGc	p.S250C	GS1-393G12.12_ENST00000525023.1_RNA|HSF1_ENST00000400780.4_Missense_Mutation_p.S185C	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	250	Regulatory domain.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TACAGCAGCTCCAGCCTCTAC	0.692																																						uc003zbt.3		NaN																	0					0						c.(748-750)TCC>TGC		heat shock transcription factor 1							39.0	39.0	39.0					8																	145535411		2202	4296	6498	SO:0001583	missense	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145535411C>G	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.749C>G	8.37:g.145535411C>G	ENSP00000431512:p.Ser250Cys					HSF1_uc003zbu.3_RNA	p.S250C	NM_005526	NP_005517	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		8	919	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		250			Regulatory domain.		A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	c.749C>G	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486795	0.63962	.	.	ENSG00000185122	ENST00000528838;ENST00000400780	.	.	.	5.3	5.3	0.74995	Vertebrate heat shock transcription factor (1);	0.221535	0.38663	N	0.001619	T	0.75657	0.3879	M	0.67953	2.075	0.47862	D	0.999533	D	0.56746	0.977	P	0.61800	0.894	T	0.78270	-0.2269	9	0.72032	D	0.01	-20.7977	16.4466	0.83936	0.0:1.0:0.0:0.0	.	250	Q00613	HSF1_HUMAN	C	250;185	.	ENSP00000383590:S185C	S	+	2	0	HSF1	145506219	1.000000	0.71417	0.952000	0.39060	0.120000	0.20174	3.683000	0.54663	2.482000	0.83794	0.462000	0.41574	TCC		0.692	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1		NM_005526		41	163	0	0	0	0.00361	0	41	163		
RIC1	57589	broad.mit.edu	37	9	5772683	5772683	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:5772683G>A	ENST00000414202.2	+	24	3927	c.3736G>A	c.(3736-3738)Gag>Aag	p.E1246K	KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1167K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E1130K	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)		GTCAGAGCTGGAGCACATTTC	0.468																																						uc003zji.2		NaN																	0					0						c.(3499-3501)GAG>AAG		connexin 43-interacting protein 150 isoform a							92.0	84.0	87.0					9																	5772683		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5772683G>A																												ENST00000414202.2:c.3736G>A	9.37:g.5772683G>A	ENSP00000416696:p.Glu1246Lys					KIAA1432_uc003zjl.3_Missense_Mutation_p.E1130K|ERMP1_uc011lme.1_Intron	p.E1167K	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	23	3592	+		Acute lymphoblastic leukemia(23;0.154)	1246						Missense_Mutation	SNP	ENST00000414202.2	37	c.3499G>A	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.247227|5.247227	0.95305|0.95305	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000414202;ENST00000418622;ENST00000449720;ENST00000490816|ENST00000545641	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74520|0.74520	0.3727|0.3727	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.996;0.996|.	P;P|.	0.58266|.	0.836;0.836|.	T|T	0.71377|0.71377	-0.4611|-0.4611	9|5	0.25106|.	T|.	0.35|.	-17.269|-17.269	19.7398|19.7398	0.96223|0.96223	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1130;1246|.	B7ZM67;Q4ADV7|.	.;RIC1_HUMAN|.	K|E	1246;1167;1130;65|1137	.|.	ENSP00000416696:E1246K|.	E|G	+|+	1|2	0|0	KIAA1432|KIAA1432	5762683|5762683	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.989000|0.989000	0.77384|0.77384	9.473000|9.473000	0.97714|0.97714	2.665000|2.665000	0.90641|0.90641	0.561000|0.561000	0.74099|0.74099	GAG|GGA		0.468	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3				19	128	0	0	0	0.008871	0	19	128		
RANBP6	26953	broad.mit.edu	37	9	6015556	6015556	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:6015556C>G	ENST00000259569.5	-	1	62	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	18					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TGGTAAAACTCTTGCTTTTCT	0.552																																						uc003zjr.2		NaN																	0				ovary(3)	3						c.(52-54)GAG>CAG		RAN binding protein 6							63.0	68.0	66.0					9																	6015556		2203	4299	6502	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6015556C>G	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.52G>C	9.37:g.6015556C>G	ENSP00000259569:p.Glu18Gln					RANBP6_uc011lmf.1_Missense_Mutation_p.E18Q|RANBP6_uc003zjs.2_5'UTR	p.E18Q	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	63	-		Acute lymphoblastic leukemia(23;0.158)	18					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.52G>C	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	7.194	0.592212	0.13812	.	.	ENSG00000137040	ENST00000259569	T	0.66099	-0.19	4.54	4.54	0.55810	Armadillo-like helical (1);Armadillo-type fold (1);	0.063659	0.64402	D	0.000006	T	0.20981	0.0505	N	0.00246	-1.78	0.33849	D	0.632432	B	0.06786	0.001	B	0.06405	0.002	T	0.41124	-0.9526	10	0.02654	T	1	-9.4887	11.0018	0.47611	0.0:0.8118:0.1882:0.0	.	18	O60518	RNBP6_HUMAN	Q	18	ENSP00000259569:E18Q	ENSP00000259569:E18Q	E	-	1	0	RANBP6	6005556	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.098000	0.50259	2.813000	0.96785	0.561000	0.74099	GAG		0.552	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1		NM_012416		30	304	0	0	0	0.003755	0	30	304		
FOCAD	54914	broad.mit.edu	37	9	20946772	20946772	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:20946772G>A	ENST00000380249.1	+	32	3992	c.3628G>A	c.(3628-3630)Gag>Aag	p.E1210K	FOCAD_ENST00000338382.6_Missense_Mutation_p.E1210K|FOCAD_ENST00000605086.1_Missense_Mutation_p.E646K	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1210						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TACAGAGGCTGAGGATGTTAT	0.448																																						uc003zog.1		NaN																	0				ovary(8)|breast(1)|kidney(1)	10						c.(3628-3630)GAG>AAG		hypothetical protein LOC54914							207.0	185.0	192.0					9																	20946772		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20946772G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3628G>A	9.37:g.20946772G>A	ENSP00000369599:p.Glu1210Lys					KIAA1797_uc003zoh.1_Missense_Mutation_p.E646K	p.E1210K	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	32	3991	+			1210					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.3628G>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148342	0.78001	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.70164	-0.46;-0.46	5.47	5.47	0.80525	Armadillo-type fold (1);	0.050861	0.85682	D	0.000000	T	0.74876	0.3774	M	0.67953	2.075	0.53688	D	0.999975	D	0.63880	0.993	P	0.53006	0.715	T	0.74262	-0.3722	10	0.37606	T	0.19	-4.857	18.1143	0.89546	0.0:0.0:1.0:0.0	.	1210	Q5VW36	K1797_HUMAN	K	1210	ENSP00000369599:E1210K;ENSP00000344307:E1210K	ENSP00000344307:E1210K	E	+	1	0	KIAA1797	20936772	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	7.653000	0.83643	2.562000	0.86427	0.650000	0.86243	GAG		0.448	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1		NM_017794		97	3	0	0	0	0.00361	0	97	3		
IFNA4	3441	broad.mit.edu	37	9	21186998	21186998	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:21186998G>A	ENST00000421715.1	-	1	600	c.533C>T	c.(532-534)tCa>tTa	p.S178L		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	178					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAAGTTTGTTGAAAACGAGAG	0.378																																					NSCLC(154;890 1986 23660 27800 51138)	uc003zon.2		NaN																	0				ovary(1)|skin(1)	2						c.(532-534)TCA>TTA		interferon, alpha 4 precursor							186.0	190.0	188.0					9																	21186998		2203	4300	6503	SO:0001583	missense	3441				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21186998G>A		CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.533C>T	9.37:g.21186998G>A	ENSP00000412897:p.Ser178Leu						p.S178L	NM_021068	NP_066546	P05014	IFNA4_HUMAN		GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	601	-			178					P13358|Q14CS4|Q5VV15	Missense_Mutation	SNP	ENST00000421715.1	37	c.533C>T	CCDS6498.1	.	.	.	.	.	.	.	.	.	.	-	12.63	1.996134	0.35226	.	.	ENSG00000236637	ENST00000421715	T	0.03496	3.91	2.96	-0.38	0.12490	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.445610	0.19869	N	0.104252	T	0.08223	0.0205	L	0.46819	1.47	0.09310	N	1	P	0.52316	0.952	D	0.69142	0.962	T	0.16305	-1.0407	10	0.66056	D	0.02	.	3.3518	0.07155	0.3924:0.2065:0.4011:0.0	.	178	P05014	IFNA4_HUMAN	L	178	ENSP00000412897:S178L	ENSP00000412897:S178L	S	-	2	0	IFNA4	21176998	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.022000	0.13511	0.124000	0.18369	-0.443000	0.05667	TCA		0.378	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1		NM_021068		324	34	0	0	0	0.00361	0	324	34		
TEK	7010	broad.mit.edu	37	9	27203074	27203074	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:27203074C>G	ENST00000380036.4	+	13	2608	c.2166C>G	c.(2164-2166)aaC>aaG	p.N722K	TEK_ENST00000406359.4_Missense_Mutation_p.N679K|TEK_ENST00000519097.1_Missense_Mutation_p.N575K	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	722	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GGTCAAGCAACCCAGCCTTTT	0.473																																						uc003zqi.3		NaN																	0				ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12						c.(2164-2166)AAC>AAG		TEK tyrosine kinase, endothelial precursor							85.0	79.0	81.0					9																	27203074		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27203074C>G	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2166C>G	9.37:g.27203074C>G	ENSP00000369375:p.Asn722Lys					TEK_uc011lno.1_Missense_Mutation_p.N679K|TEK_uc011lnp.1_Missense_Mutation_p.N575K|TEK_uc003zqj.1_Missense_Mutation_p.N656K	p.N722K	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	13	2608	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	722			Extracellular (Potential).|Fibronectin type-III 3.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.2166C>G	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239615	0.22711	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.16743	2.32;2.32;2.32	5.58	-2.24	0.06909	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.107868	0.40640	N	0.001047	T	0.07908	0.0198	N	0.19112	0.55	0.29966	N	0.818965	B;B;B;B	0.09022	0.001;0.001;0.0;0.002	B;B;B;B	0.15052	0.005;0.012;0.002;0.007	T	0.22452	-1.0216	10	0.25106	T	0.35	.	6.3474	0.21357	0.1215:0.3735:0.0:0.5051	.	575;755;679;722	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	K	575;722;679	ENSP00000430686:N575K;ENSP00000369375:N722K;ENSP00000383977:N679K	ENSP00000369375:N722K	N	+	3	2	TEK	27193074	0.019000	0.18553	0.947000	0.38551	0.955000	0.61496	-0.798000	0.04565	-0.377000	0.07930	-0.874000	0.02982	AAC		0.473	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3				10	79	0	0	0	0.001855	0	10	79		
NOL6	65083	broad.mit.edu	37	9	33466615	33466615	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:33466615C>T	ENST00000379471.2	-	16	2130	c.2043G>A	c.(2041-2043)ctG>ctA	p.L681L	NOL6_ENST00000455041.2_Silent_p.L629L|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	681					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L681L(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CAGACACGGTCAGTGGGAGAC	0.622											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zsz.2		NaN																	1	Substitution - coding silent(1)	p.L681L(1)	ovary(1)	ovary(2)	2						c.(2041-2043)CTG>CTA		nucleolar protein family 6 alpha isoform							86.0	76.0	80.0					9																	33466615		2203	4300	6503	SO:0001819	synonymous_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33466615C>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2043G>A	9.37:g.33466615C>T			OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Silent_p.L678L|NOL6_uc011lob.1_Silent_p.L629L|NOL6_uc003ztb.1_Silent_p.L681L	p.L681L	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	16	2144	-			681					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000379471.2	37	c.2043G>A																																																																																					0.622	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2		NM_022917		94	71	0	0	0	0.00361	0	94	71		
GNE	10020	broad.mit.edu	37	9	36246323	36246323	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:36246323C>G	ENST00000539815.1	-	2	361	c.321G>C	c.(319-321)atG>atC	p.M107I	GNE_ENST00000377902.5_Missense_Mutation_p.M107I|GNE_ENST00000447283.2_Missense_Mutation_p.M107I|GNE_ENST00000543356.2_Missense_Mutation_p.M102I|GNE_ENST00000539208.1_Missense_Mutation_p.M48I|GNE_ENST00000396594.3_Missense_Mutation_p.M138I			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	107					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CATGAACAATCATGATATCAG	0.522																																					GBM(184;106 2118 20004 35750 50727)	uc010mlh.2		NaN																	0					0						c.(319-321)ATG>ATC		UDP-N-acetylglucosamine-2-epimerase/N-							82.0	71.0	75.0					9																	36246323		2203	4300	6503	SO:0001583	missense	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36246323C>G	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.321G>C	9.37:g.36246323C>G	ENSP00000439155:p.Met107Ile					CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.M107I|GNE_uc011lpl.1_Missense_Mutation_p.M48I|GNE_uc010mli.2_Missense_Mutation_p.M138I|GNE_uc010mlj.2_Missense_Mutation_p.M102I	p.M107I	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		3	536	-			107			UDP-N-acetylglucosamine 2-epimerase.		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	37	c.321G>C	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372233	0.24857	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.21;-5.25;-5.25	5.59	5.59	0.84812	.	0.132798	0.64402	D	0.000001	D	0.90772	0.7103	N	0.00446	-1.495	0.44603	D	0.997573	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.09377	0.0;0.0;0.0;0.001;0.004	D	0.88608	0.3154	10	0.13470	T	0.59	-28.0558	12.0859	0.53698	0.1717:0.8283:0.0:0.0	.	48;66;138;107;107	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	I	107;138;102;107;79;48;107	ENSP00000367134:M107I;ENSP00000379839:M138I;ENSP00000439155:M107I;ENSP00000437765:M79I;ENSP00000445117:M48I;ENSP00000414760:M107I	ENSP00000340770:M102I	M	-	3	0	GNE	36236323	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.310000	0.51911	2.627000	0.88993	0.467000	0.42956	ATG		0.522	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4		NM_005476		18	108	0	0	0	0.007413	0	18	108		
GNE	10020	broad.mit.edu	37	9	36246416	36246416	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:36246416C>G	ENST00000539815.1	-	2	268	c.228G>C	c.(226-228)gtG>gtC	p.V76V	GNE_ENST00000377902.5_Silent_p.V76V|GNE_ENST00000447283.2_Silent_p.V76V|GNE_ENST00000543356.2_Silent_p.V71V|GNE_ENST00000539208.1_Silent_p.V17V|GNE_ENST00000396594.3_Silent_p.V107V			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	76					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CTTCTCCCCTCACAATTGTGT	0.438																																					GBM(184;106 2118 20004 35750 50727)	uc010mlh.2		NaN																	0					0						c.(226-228)GTG>GTC		UDP-N-acetylglucosamine-2-epimerase/N-							69.0	67.0	68.0					9																	36246416		2203	4300	6503	SO:0001819	synonymous_variant	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36246416C>G	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.228G>C	9.37:g.36246416C>G						CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Silent_p.V76V|GNE_uc011lpl.1_Silent_p.V17V|GNE_uc010mli.2_Silent_p.V107V|GNE_uc010mlj.2_Silent_p.V71V	p.V76V	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		3	443	-			76			UDP-N-acetylglucosamine 2-epimerase.		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Silent	SNP	ENST00000539815.1	37	c.228G>C	CCDS6602.1																																																																																				0.438	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4		NM_005476		24	173	0	0	0	0.007291	0	24	173		
GNE	10020	broad.mit.edu	37	9	36249349	36249349	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:36249349C>T	ENST00000539815.1	-	1	44	c.4G>A	c.(4-6)Gag>Aag	p.E2K	GNE_ENST00000377902.5_Missense_Mutation_p.E2K|GNE_ENST00000447283.2_Missense_Mutation_p.E2K|GNE_ENST00000543356.2_Intron|GNE_ENST00000539208.1_Intron|GNE_ENST00000396594.3_Missense_Mutation_p.E33K			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	2					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CCATTCTTCTCCATGATTTGC	0.353																																					GBM(184;106 2118 20004 35750 50727)	uc010mlh.2		NaN																	0					0						c.(4-6)GAG>AAG		UDP-N-acetylglucosamine-2-epimerase/N-							151.0	127.0	135.0					9																	36249349		2203	4300	6503	SO:0001583	missense	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36249349C>T	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.4G>A	9.37:g.36249349C>T	ENSP00000439155:p.Glu2Lys					CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.E2K|GNE_uc011lpl.1_Intron|GNE_uc010mli.2_Missense_Mutation_p.E33K|GNE_uc010mlj.2_Intron	p.E2K	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		2	219	-			2			UDP-N-acetylglucosamine 2-epimerase.		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	37	c.4G>A	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416863	0.62511	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000539815;ENST00000447283	D;D;D;D	0.99652	-6.29;-6.3;-6.29;-6.28	5.13	4.2	0.49525	.	0.383959	0.29631	N	0.011604	D	0.98931	0.9637	N	0.19112	0.55	0.44227	D	0.997061	D;P;P	0.56035	0.974;0.88;0.88	D;P;P	0.67725	0.953;0.899;0.899	D	0.97760	1.0220	10	0.72032	D	0.01	-23.8069	12.9598	0.58451	0.1614:0.8386:0.0:0.0	.	33;2;2	Q9Y223-2;Q9Y223;A7UNU7	.;GLCNE_HUMAN;.	K	2;33;2;2	ENSP00000367134:E2K;ENSP00000379839:E33K;ENSP00000439155:E2K;ENSP00000414760:E2K	ENSP00000367134:E2K	E	-	1	0	GNE	36239349	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.954000	0.56708	2.684000	0.91462	0.561000	0.74099	GAG		0.353	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4		NM_005476		17	134	0	0	0	0.007413	0	17	134		
DAPK1	1612	broad.mit.edu	37	9	90283556	90283556	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:90283556G>C	ENST00000408954.3	+	19	2303	c.1968G>C	c.(1966-1968)gaG>gaC	p.E656D	DAPK1_ENST00000358077.5_Missense_Mutation_p.E656D|DAPK1_ENST00000491893.1_Missense_Mutation_p.E656D|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000472284.1_Missense_Mutation_p.E656D|DAPK1_ENST00000469640.2_Missense_Mutation_p.E656D	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	656					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AACAGCACGAGCACGTAGCAG	0.428									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2		NaN																	0				ovary(1)|breast(1)	2						c.(1966-1968)GAG>GAC		death-associated protein kinase 1							267.0	275.0	272.0					9																	90283556		1943	4137	6080	SO:0001583	missense	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90283556G>C	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1968G>C	9.37:g.90283556G>C	ENSP00000386135:p.Glu656Asp					DAPK1_uc004apd.2_Missense_Mutation_p.E656D|DAPK1_uc011ltg.1_Missense_Mutation_p.E656D|DAPK1_uc011lth.1_Missense_Mutation_p.E393D|DAPK1_uc004apf.1_Missense_Mutation_p.E210D	p.E656D	NM_004938	NP_004929	P53355	DAPK1_HUMAN			19	2106	+			656					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.1968G>C	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	8.938	0.965021	0.18583	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	4.73	-2.53	0.06326	Ankyrin repeat-containing domain (3);	0.128040	0.32120	N	0.006543	T	0.10637	0.0260	L	0.44542	1.39	0.37031	D	0.896667	B;B;B	0.33171	0.4;0.003;0.227	B;B;B	0.33196	0.113;0.018;0.159	T	0.23583	-1.0184	10	0.22109	T	0.4	.	6.4176	0.21725	0.5016:0.1299:0.3685:0.0	.	656;210;656	B7ZLE7;P53355-2;P53355	.;.;DAPK1_HUMAN	D	656	ENSP00000350785:E656D;ENSP00000417076:E656D;ENSP00000418885:E656D;ENSP00000386135:E656D;ENSP00000419026:E656D	ENSP00000350785:E656D	E	+	3	2	DAPK1	89473376	0.997000	0.39634	0.552000	0.28243	0.851000	0.48451	0.229000	0.17833	-0.586000	0.05898	0.491000	0.48974	GAG		0.428	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1		NM_004938		58	209	0	0	0	0.00361	0	58	209		
SPTLC1	10558	broad.mit.edu	37	9	94843181	94843181	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:94843181G>A	ENST00000262554.2	-	4	330	c.325C>T	c.(325-327)Ctt>Ttt	p.L109F	SPTLC1_ENST00000337841.4_Missense_Mutation_p.L109F|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	109					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	AACAATCCAAGAAAATTAAAT	0.378																																						uc004arl.1		NaN																	0				ovary(1)|breast(1)	2						c.(325-327)CTT>TTT		serine palmitoyltransferase subunit 1 isoform a	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						129.0	109.0	116.0					9																	94843181		2203	4300	6503	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94843181G>A	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.325C>T	9.37:g.94843181G>A	ENSP00000262554:p.Leu109Phe					SPTLC1_uc011ltv.1_Missense_Mutation_p.L109F|SPTLC1_uc004arm.1_Missense_Mutation_p.L109F|SPTLC1_uc004arn.1_Missense_Mutation_p.L109F	p.L109F	NM_006415	NP_006406	O15269	SPTC1_HUMAN			4	363	-			109			Cytoplasmic (Potential).		A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.325C>T	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517470	0.85495	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	D;D	0.96774	-4.12;-4.12	5.0	5.0	0.66597	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	M	0.83774	2.66	0.80722	D	1	P;D;D;P	0.89917	0.697;1.0;0.994;0.93	P;D;D;P	0.91635	0.838;0.999;0.986;0.893	D	0.98400	1.0567	10	0.56958	D	0.05	-26.0877	18.4449	0.90680	0.0:0.0:1.0:0.0	.	109;109;104;109	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	F	109	ENSP00000262554:L109F;ENSP00000337635:L109F	ENSP00000262554:L109F	L	-	1	0	SPTLC1	93883002	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.322000	0.65852	2.759000	0.94783	0.557000	0.71058	CTT		0.378	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1		NM_006415		18	48	0	0	0	0.008871	0	18	48		
FOXE1	2304	broad.mit.edu	37	9	100616407	100616407	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:100616407G>A	ENST00000375123.3	+	1	872	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	71					anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				GCACGCGCCCGAGCGCCGCCT	0.697																																						uc004axu.2		NaN																	0					0						c.(211-213)GAG>AAG		forkhead box E1							19.0	19.0	19.0					9																	100616407		2195	4289	6484	SO:0001583	missense	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:100616407G>A	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.211G>A	9.37:g.100616407G>A	ENSP00000364265:p.Glu71Lys						p.E71K	NM_004473	NP_004464	O00358	FOXE1_HUMAN			1	871	+		Acute lymphoblastic leukemia(62;0.158)	71			Fork-head.		O75765|Q5T109|Q99526	Missense_Mutation	SNP	ENST00000375123.3	37	c.211G>A	CCDS35078.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682373	0.68157	.	.	ENSG00000178919	ENST00000375123	D	0.95724	-3.79	2.95	2.95	0.34219	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.071047	0.52532	D	0.000066	D	0.91476	0.7309	L	0.48260	1.515	0.50171	D	0.999855	P	0.38565	0.637	B	0.34301	0.179	D	0.90493	0.4468	10	0.40728	T	0.16	.	11.7148	0.51645	0.0:0.0:1.0:0.0	.	71	O00358	FOXE1_HUMAN	K	71	ENSP00000364265:E71K	ENSP00000364265:E71K	E	+	1	0	FOXE1	99656228	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.353000	0.66034	1.680000	0.50976	0.563000	0.77884	GAG		0.697	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1				12	14	0	0	0	0.00245	0	12	14		
TMEM38B	55151	broad.mit.edu	37	9	108536171	108536171	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:108536171C>T	ENST00000374692.3	+	6	803	c.686C>T	c.(685-687)tCt>tTt	p.S229F	TMEM38B_ENST00000374688.1_Missense_Mutation_p.S175F	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	229						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						ACACAGACTTCTACTATGACA	0.358																																						uc004bcu.1		NaN																	0				ovary(1)|skin(1)	2						c.(685-687)TCT>TTT		transmembrane protein 38B							131.0	126.0	128.0					9																	108536171		2203	4300	6503	SO:0001583	missense	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108536171C>T	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.686C>T	9.37:g.108536171C>T	ENSP00000363824:p.Ser229Phe					TMEM38B_uc010mtn.1_3'UTR	p.S229F	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN			6	803	+			229			Cytoplasmic (Potential).		Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP	ENST00000374692.3	37	c.686C>T	CCDS6768.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499211	0.44455	.	.	ENSG00000095209	ENST00000374692;ENST00000374688	T;T	0.46451	0.87;0.87	4.64	3.66	0.41972	.	1.219170	0.05500	N	0.558208	T	0.40145	0.1105	L	0.27053	0.805	0.09310	N	1	P	0.42941	0.794	P	0.45998	0.5	T	0.33624	-0.9861	10	0.51188	T	0.08	-1.3948	10.1406	0.42734	0.0:0.7967:0.2033:0.0	.	229	Q9NVV0	TM38B_HUMAN	F	229;175	ENSP00000363824:S229F;ENSP00000363820:S175F	ENSP00000363820:S175F	S	+	2	0	TMEM38B	107575992	0.000000	0.05858	0.020000	0.16555	0.835000	0.47333	0.768000	0.26590	2.548000	0.85928	0.536000	0.68110	TCT		0.358	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1		NM_018112		23	73	0	0	0	0.009535	0	23	73		
IKBKAP	8518	broad.mit.edu	37	9	111659293	111659293	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:111659293G>T	ENST00000374647.5	-	24	2834	c.2527C>A	c.(2527-2529)Cat>Aat	p.H843N	IKBKAP_ENST00000537196.1_Missense_Mutation_p.H494N	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	843					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTCTTTACATGAGATGTAAGT	0.433																																						uc004bdm.3		NaN																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						c.(2527-2529)CAT>AAT		inhibitor of kappa light polypeptide gene							143.0	135.0	138.0					9																	111659293		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111659293G>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2527C>A	9.37:g.111659293G>T	ENSP00000363779:p.His843Asn					IKBKAP_uc004bdl.2_Missense_Mutation_p.H494N|IKBKAP_uc011lwc.1_Missense_Mutation_p.H729N|IKBKAP_uc010mtq.2_Missense_Mutation_p.H494N	p.H843N	NM_003640	NP_003631	O95163	ELP1_HUMAN			24	3047	-			843					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.2527C>A	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520714	0.64747	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.32272	1.46;1.46	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	M	0.80616	2.505	0.41923	D	0.990529	D	0.89917	1.0	D	0.74348	0.983	T	0.59316	-0.7477	10	0.66056	D	0.02	-17.6632	10.6264	0.45510	0.0865:0.0:0.9135:0.0	.	843	O95163	ELP1_HUMAN	N	843;494	ENSP00000363779:H843N;ENSP00000439367:H494N	ENSP00000363779:H843N	H	-	1	0	IKBKAP	110699114	1.000000	0.71417	0.834000	0.33040	0.535000	0.34838	4.922000	0.63404	2.660000	0.90430	0.467000	0.42956	CAT		0.433	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1				17	76	1	0	3.8784e-16	0.012319	4.12237e-16	17	76		
ZFP37	7539	broad.mit.edu	37	9	115805645	115805645	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:115805645G>A	ENST00000374227.3	-	4	1280	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L	ZFP37_ENST00000553380.1_Missense_Mutation_p.S433L|ZFP37_ENST00000555206.1_Missense_Mutation_p.S419L	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S418L(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GGTAAGAGATGAGTTATACCT	0.388																																						uc004bgm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1252-1254)TCA>TTA		zinc finger protein 37 homolog							126.0	122.0	123.0					9																	115805645		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805645G>A	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1253C>T	9.37:g.115805645G>A	ENSP00000363344:p.Ser418Leu					ZFP37_uc011lwz.1_Missense_Mutation_p.S433L|ZFP37_uc011lxa.1_Missense_Mutation_p.S419L	p.S418L	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	1281	-			418			C2H2-type 5.		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1253C>T	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654571	0.47467	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.07444	3.19;3.19;3.19	4.02	4.02	0.46733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36555	N	0.002537	T	0.26085	0.0636	M	0.82193	2.58	0.28809	N	0.898361	D;D;P	0.54964	0.969;0.969;0.882	P;P;B	0.57468	0.821;0.821;0.41	T	0.04090	-1.0978	10	0.66056	D	0.02	-5.2294	14.4629	0.67465	0.0:0.0:1.0:0.0	.	419;433;418	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	L	418;419;433	ENSP00000363344:S418L;ENSP00000451310:S419L;ENSP00000452552:S433L	ENSP00000363344:S418L	S	-	2	0	ZFP37	114845466	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.220000	0.17660	2.528000	0.85240	0.655000	0.94253	TCA		0.388	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1		NM_003408		49	36	0	0	0	0.00361	0	49	36		
ZFP37	7539	broad.mit.edu	37	9	115806039	115806039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:115806039G>A	ENST00000374227.3	-	4	886	c.859C>T	c.(859-861)Caa>Taa	p.Q287*	ZFP37_ENST00000553380.1_Nonsense_Mutation_p.Q302*|ZFP37_ENST00000555206.1_Nonsense_Mutation_p.Q288*	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACACAAGCTTGAGGTTTTTCA	0.403																																						uc004bgm.1		NaN																	0				ovary(1)|skin(1)	2						c.(859-861)CAA>TAA		zinc finger protein 37 homolog							214.0	204.0	207.0					9																	115806039		2203	4300	6503	SO:0001587	stop_gained	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115806039G>A	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.859C>T	9.37:g.115806039G>A	ENSP00000363344:p.Gln287*					ZFP37_uc011lwz.1_Nonsense_Mutation_p.Q302*|ZFP37_uc011lxa.1_Nonsense_Mutation_p.Q288*	p.Q287*	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	887	-			287					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Nonsense_Mutation	SNP	ENST00000374227.3	37	c.859C>T	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320363	0.23994	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	.	.	.	4.12	1.01	0.19927	.	0.392031	0.18826	N	0.130118	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-1.568	8.0582	0.30617	0.0:0.1528:0.5326:0.3146	.	.	.	.	X	287;288;302	.	ENSP00000363344:Q287X	Q	-	1	0	ZFP37	114845860	0.105000	0.21958	0.001000	0.08648	0.216000	0.24613	1.582000	0.36568	0.231000	0.21079	0.655000	0.94253	CAA		0.403	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1		NM_003408		61	51	0	0	0	0.00361	0	61	51		
TRIM32	22954	broad.mit.edu	37	9	119461344	119461344	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:119461344G>A	ENST00000450136.1	+	2	1484	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Silent_p.L441L	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	441					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GCCAGGGGCTGATTGGTGTGA	0.547																																					Esophageal Squamous(92;212 1916 19711 26951)	uc004bjx.2		NaN																	0				central_nervous_system(2)|kidney(1)	3						c.(1321-1323)CTG>CTA		tripartite motif-containing 32							165.0	171.0	169.0					9																	119461344		2203	4300	6503	SO:0001819	synonymous_variant	22954	Bardet-Biedl_syndrome			fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461344G>A	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1323G>A	9.37:g.119461344G>A						ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Silent_p.L441L	p.L441L	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN			2	1481	+			441			NHL 2.		Q9NQP8	Silent	SNP	ENST00000450136.1	37	c.1323G>A	CCDS6817.1																																																																																				0.547	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2		NM_012210		63	211	0	0	0	0.00361	0	63	211		
DAB2IP	153090	broad.mit.edu	37	9	124535708	124535708	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:124535708G>A	ENST00000408936.3	+	12	3083	c.2901G>A	c.(2899-2901)ctG>ctA	p.L967L	DAB2IP_ENST00000309989.1_Silent_p.L843L|DAB2IP_ENST00000259371.2_Silent_p.L939L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	967					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GTACCCGCCTGAGGCAGCAGT	0.657																																						uc004bln.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2815-2817)CTG>CTA		disabled homolog 2 interacting protein isoform							13.0	15.0	15.0					9																	124535708		2197	4296	6493	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124535708G>A	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2901G>A	9.37:g.124535708G>A						DAB2IP_uc004blo.2_Silent_p.L843L|DAB2IP_uc004blp.2_Silent_p.L372L	p.L939L	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN			12	2886	+			967					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.2817G>A																																																																																					0.657	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1		NM_032552		16	8	0	0	0	0.012319	0	16	8		
LMX1B	4010	broad.mit.edu	37	9	129455807	129455807	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:129455807G>C	ENST00000373474.4	+	5	753	c.746G>C	c.(745-747)cGa>cCa	p.R249P	LMX1B_ENST00000561065.1_Missense_Mutation_p.R226P|LMX1B_ENST00000425646.2_Missense_Mutation_p.R226P|LMX1B_ENST00000526117.1_Missense_Mutation_p.R249P|LMX1B_ENST00000355497.5_Missense_Mutation_p.R249P			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	249			R -> P (in NPS). {ECO:0000269|PubMed:9837817}.		cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AGCCAGGTCCGAGAGACACTG	0.612									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	uc004bqj.2		NaN																	0					0	GRCh37	CM981220	LMX1B	M		c.(676-678)CGA>CCA		LIM homeobox transcription factor 1, beta							51.0	53.0	52.0					9																	129455807		2203	4300	6503	SO:0001583	missense	4010	Nail-Patella_Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129455807G>C	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.746G>C	9.37:g.129455807G>C	ENSP00000362573:p.Arg249Pro					LMX1B_uc004bqi.2_Missense_Mutation_p.R226P|LMX1B_uc011maa.1_Missense_Mutation_p.R226P	p.R226P	NM_002316	NP_002307	O60663	LMX1B_HUMAN			5	727	+			226		R -> P (in NPS).	Homeobox.		F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	c.677G>C	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440260	0.83993	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	4.6	4.6	0.57074	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99121	0.9697	H	0.98664	4.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.993	D	0.98874	1.0767	10	0.66056	D	0.02	.	16.5679	0.84603	0.0:0.0:1.0:0.0	.	226;226;249	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	P	249;249;249;226	ENSP00000436930:R249P;ENSP00000362573:R249P;ENSP00000347684:R249P;ENSP00000390923:R226P	ENSP00000347684:R249P	R	+	2	0	LMX1B	128495628	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.882000	0.92420	2.370000	0.80446	0.561000	0.74099	CGA		0.612	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2				48	39	0	0	0	0.00361	0	48	39		
RALGPS1	9649	broad.mit.edu	37	9	129728131	129728131	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:129728131C>A	ENST00000259351.5	+	3	333	c.66C>A	c.(64-66)agC>agA	p.S22R	RALGPS1_ENST00000373434.1_Missense_Mutation_p.S22R|RALGPS1_ENST00000480993.1_3'UTR|RALGPS1_ENST00000373436.1_Missense_Mutation_p.S22R|RALGPS1_ENST00000424082.2_Missense_Mutation_p.S22R|RALGPS1_ENST00000394011.3_Missense_Mutation_p.S22R|RALGPS1_ENST00000394022.3_Missense_Mutation_p.S22R	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	22	Poly-Ser.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGGCAGCAGCAGCTCGGACT	0.542																																						uc004bqo.1		NaN																	0				ovary(1)	1						c.(64-66)AGC>AGA		Ral GEF with PH domain and SH3 binding motif 1							82.0	79.0	80.0					9																	129728131		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129728131C>A	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.66C>A	9.37:g.129728131C>A	ENSP00000259351:p.Ser22Arg					RALGPS1_uc011mab.1_Missense_Mutation_p.S22R|RALGPS1_uc011mac.1_Missense_Mutation_p.S22R|RALGPS1_uc004bqq.3_Missense_Mutation_p.S22R	p.S22R	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN			3	333	+			22			Poly-Ser.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.66C>A	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406532	0.83230	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000394011;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.55	5.55	0.83447	Ras guanine nucleotide exchange factor, domain (1);	0.050644	0.85682	D	0.000000	T	0.53642	0.1809	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	D;D;D;D	0.80764	0.986;0.994;0.994;0.986	T	0.51180	-0.8738	10	0.54805	T	0.06	.	18.2758	0.90083	0.0:1.0:0.0:0.0	.	22;22;22;22	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	R	22	ENSP00000259351:S22R;ENSP00000415630:S22R;ENSP00000377590:S22R;ENSP00000377579:S22R;ENSP00000317149:S22R;ENSP00000362535:S22R;ENSP00000362533:S22R	ENSP00000259351:S22R	S	+	3	2	RALGPS1	128767952	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.079000	0.64431	2.607000	0.88179	0.561000	0.74099	AGC		0.542	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1		NM_014636		19	77	1	0	0.000375601	0.00278	0.000383754	19	77		
RALGPS1	9649	broad.mit.edu	37	9	129958857	129958857	+	Missense_Mutation	SNP	G	G	A	rs201112886		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:129958857G>A	ENST00000259351.5	+	13	1409	c.1142G>A	c.(1141-1143)cGa>cAa	p.R381Q	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	381					intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.R381Q(1)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CGCAGCCCCCGAAGGGGCCTG	0.577																																						uc004bqo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1141-1143)CGA>CAA		Ral GEF with PH domain and SH3 binding motif 1							113.0	111.0	112.0					9																	129958857		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129958857G>A	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1142G>A	9.37:g.129958857G>A	ENSP00000259351:p.Arg381Gln					RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron	p.R381Q	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN			13	1409	+			381					B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.1142G>A	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180777	0.57800	.	.	ENSG00000136828	ENST00000259351	T	0.24151	1.87	5.48	5.48	0.80851	.	0.569905	0.15198	U	0.275170	T	0.14356	0.0347	N	0.08118	0	0.80722	D	1	B	0.24132	0.098	B	0.24848	0.056	T	0.16100	-1.0414	10	0.25106	T	0.35	.	11.7516	0.51852	0.0:0.0:0.7172:0.2827	.	381	Q5JS13	RGPS1_HUMAN	Q	381	ENSP00000259351:R381Q	ENSP00000259351:R381Q	R	+	2	0	RALGPS1	128998678	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.252000	0.43196	2.572000	0.86782	0.491000	0.48974	CGA		0.577	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1		NM_014636		31	75	0	0	0	0.004878	0	31	75		
GARNL3	84253	broad.mit.edu	37	9	130152935	130152935	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:130152935G>T	ENST00000373387.4	+	27	3111	c.2759G>T	c.(2758-2760)gGt>gTt	p.G920V	GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.G898V	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	920					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TCGGATGAAGGTGGACCCAAG	0.537																																						uc011mae.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2758-2760)GGT>GTT		GTPase activating Rap/RanGAP domain-like 3							113.0	127.0	122.0					9																	130152935		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130152935G>T	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.2759G>T	9.37:g.130152935G>T	ENSP00000362485:p.Gly920Val					GARNL3_uc011mad.1_Missense_Mutation_p.G898V|GARNL3_uc010mxi.2_Missense_Mutation_p.G150V	p.G920V	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			27	3160	+			920					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.2759G>T	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345624	0.41498	.	.	ENSG00000136895	ENST00000435213;ENST00000373387	D;D	0.87256	-2.22;-2.23	5.91	3.88	0.44766	.	0.229124	0.45126	D	0.000383	T	0.74321	0.3701	N	0.19112	0.55	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.66023	-0.6026	9	.	.	.	.	8.5086	0.33204	0.0:0.2751:0.5823:0.1426	.	920;898	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	V	898;920	ENSP00000396205:G898V;ENSP00000362485:G920V	.	G	+	2	0	GARNL3	129192756	0.297000	0.24408	0.998000	0.56505	0.900000	0.52787	0.396000	0.20867	2.793000	0.96121	0.655000	0.94253	GGT		0.537	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3		NM_032293		79	71	1	0	2.70572e-37	0.00361	2.94236e-37	79	71		
LRSAM1	90678	broad.mit.edu	37	9	130265177	130265177	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:130265177G>A	ENST00000323301.4	+	25	2775	c.2171G>A	c.(2170-2172)tGa>tAa	p.*724*	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373324.4_Silent_p.*697*|LRSAM1_ENST00000300417.6_Silent_p.*724*|LRSAM1_ENST00000373322.1_Silent_p.*724*	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	0					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CACAGCAGCTGAGTGCTGCCC	0.697																																						uc004brb.1		NaN																	0					0						c.(2170-2172)TGA>TAA		leucine rich repeat and sterile alpha motif							15.0	14.0	14.0					9																	130265177		2198	4294	6492	SO:0001819	synonymous_variant	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130265177G>A	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.2171G>A	9.37:g.130265177G>A						LRSAM1_uc010mxk.1_Silent_p.*697*|LRSAM1_uc004brc.1_Silent_p.*724*|LRSAM1_uc004brd.1_Silent_p.*724*|LRSAM1_uc004bre.1_Silent_p.*304*|LRSAM1_uc004brg.1_Silent_p.*155*	p.*724*	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN			26	2516	+			724					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	ENST00000323301.4	37	c.2171G>A	CCDS6873.1																																																																																				0.697	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1		NM_138361		8	6	0	0	0	0.00308	0	8	6		
TTC16	158248	broad.mit.edu	37	9	130489656	130489656	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:130489656C>T	ENST00000373289.3	+	12	1756	c.1676C>T	c.(1675-1677)cCt>cTt	p.P559L	TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_5'Flank|PTRH1_ENST00000429848.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	559										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AAGGCCACCCCTGAGATTCCG	0.577																																						uc004brq.1		NaN																	0					0						c.(1675-1677)CCT>CTT		tetratricopeptide repeat domain 16							24.0	25.0	25.0					9																	130489656		2203	4299	6502	SO:0001583	missense	158248						binding	g.chr9:130489656C>T	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1676C>T	9.37:g.130489656C>T	ENSP00000362386:p.Pro559Leu					PTRH1_uc011mah.1_5'Flank|TTC16_uc011mai.1_Missense_Mutation_p.P546L|TTC16_uc004brr.1_Missense_Mutation_p.P409L|TTC16_uc010mxn.1_Missense_Mutation_p.P155L	p.P559L	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN			12	1743	+			559					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.1676C>T	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	3.276	-0.148108	0.06627	.	.	ENSG00000167094	ENST00000373289;ENST00000373288	T	0.14266	2.52	4.34	-3.45	0.04781	.	0.973138	0.08405	N	0.950831	T	0.06462	0.0166	N	0.17082	0.46	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.10450	0.005;0.005	T	0.39251	-0.9623	10	0.62326	D	0.03	-1.2664	0.6562	0.00835	0.4087:0.2101:0.1235:0.2576	.	546;559	B4DZ42;Q8NEE8	.;TTC16_HUMAN	L	559;337	ENSP00000362386:P559L	ENSP00000362385:P337L	P	+	2	0	TTC16	129529477	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.291000	0.02775	-0.741000	0.04797	0.561000	0.74099	CCT		0.577	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1		NM_144965		15	11	0	0	0	0.007413	0	15	11		
SARDH	1757	broad.mit.edu	37	9	136531911	136531911	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:136531911G>A	ENST00000371872.4	-	20	2834	c.2577C>T	c.(2575-2577)ttC>ttT	p.F859F	SARDH_ENST00000422262.2_Silent_p.F691F|SARDH_ENST00000439388.1_Silent_p.F859F|SARDH_ENST00000371868.1_Silent_p.F309F|SARDH_ENST00000469828.1_5'UTR	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	859					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGTCGATGGCGAACCCAAAGT	0.597																																						uc004cep.3		NaN																	0					0						c.(2575-2577)TTC>TTT		sarcosine dehydrogenase precursor							87.0	66.0	73.0					9																	136531911		2197	4299	6496	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136531911G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2577C>T	9.37:g.136531911G>A						SARDH_uc004ceo.2_Silent_p.F859F|SARDH_uc011mdn.1_Silent_p.F859F|SARDH_uc011mdo.1_Silent_p.F691F|SARDH_uc004cen.2_Silent_p.F309F	p.F859F	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	20	2711	-			859					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.2577C>T	CCDS6978.1																																																																																				0.597	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1				3	11	0	0	0	0.004672	0	3	11		
KCNT1	57582	broad.mit.edu	37	9	138606490	138606490	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:138606490G>A	ENST00000371757.2	+	2	245	c.178G>A	c.(178-180)Gag>Aag	p.E60K	KCNT1_ENST00000486577.2_Missense_Mutation_p.E7K|KCNT1_ENST00000487664.1_Intron|KCNT1_ENST00000298480.5_Missense_Mutation_p.E60K	NM_020822.2	NP_065873.2	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	0					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTGGACTCCGAGGTGCTGCC	0.751																																						uc011mdq.1		NaN																	0				large_intestine(2)|ovary(1)|pancreas(1)	4						c.(178-180)GAG>AAG		potassium channel, subfamily T, member 1							12.0	12.0	12.0					9																	138606490		2153	4244	6397	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138606490G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000371757.2:c.178G>A	9.37:g.138606490G>A	ENSP00000360822:p.Glu60Lys					KCNT1_uc011mdr.1_5'UTR|KCNT1_uc010nbf.2_Intron	p.E60K	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	2	252	+		Myeloproliferative disorder(178;0.0821)	60					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000371757.2	37	c.178G>A	CCDS35175.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076399	0.76415	.	.	ENSG00000107147	ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577	T;T;T	0.50548	1.61;1.62;0.74	3.62	1.73	0.24493	.	2.747040	0.02722	U	0.114119	T	0.29850	0.0746	N	0.08118	0	0.80722	D	1	P	0.51240	0.943	B	0.42282	0.382	T	0.10823	-1.0613	10	0.27082	T	0.32	.	6.6528	0.22971	0.2366:0.0:0.7634:0.0	.	60	B9EGP2	.	K	60;60;7;7	ENSP00000298480:E60K;ENSP00000360822:E60K;ENSP00000420764:E7K	ENSP00000298480:E60K	E	+	1	0	KCNT1	137746311	1.000000	0.71417	0.951000	0.38953	0.972000	0.66771	4.178000	0.58284	0.078000	0.16900	0.305000	0.20034	GAG		0.751	KCNT1-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000055021.2		NM_020822		19	39	0	0	0	0.004656	0	19	39		
C9orf142	286257	broad.mit.edu	37	9	139887394	139887394	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:139887394G>C	ENST00000371620.3	+	3	224	c.198G>C	c.(196-198)ctG>ctC	p.L66L	C9orf142_ENST00000493968.1_3'UTR|CLIC3_ENST00000480181.1_5'Flank	NM_183241.1	NP_899064.1	Q9BUH6	CI142_HUMAN	chromosome 9 open reading frame 142	66						extracellular vesicular exosome (GO:0070062)						all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTTTTGGCCTGAGTGCGGCTG	0.662																																						uc004cki.2		NaN																	0					0						c.(196-198)CTG>CTC		hypothetical protein LOC286257							79.0	79.0	79.0					9																	139887394		2203	4300	6503	SO:0001819	synonymous_variant	286257							g.chr9:139887394G>C	BC002613	CCDS7020.1	9q34.3	2008-02-05			ENSG00000148362	ENSG00000148362			27849	protein-coding gene	gene with protein product							Standard	NM_183241		Approved		uc004cki.3	Q9BUH6	OTTHUMG00000020971	ENST00000371620.3:c.198G>C	9.37:g.139887394G>C							p.L66L	NM_183241	NP_899064	Q9BUH6	CI142_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	3	224	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	66					Q8IY19	Silent	SNP	ENST00000371620.3	37	c.198G>C	CCDS7020.1																																																																																				0.662	C9orf142-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055255.1		NM_183241		30	130	0	0	0	0.004878	0	30	130		
BCOR	54880	broad.mit.edu	37	X	39930340	39930340	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:39930340C>T	ENST00000378444.4	-	6	3352	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K	BCOR_ENST00000378463.1_5'Flank|BCOR_ENST00000342274.4_Missense_Mutation_p.E1042K|BCOR_ENST00000378455.4_Missense_Mutation_p.E1024K|BCOR_ENST00000397354.3_Missense_Mutation_p.E1042K	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1042					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTGCACATCTCGGAGTCTTTG	0.488			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3		NaN		Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(3124-3126)GAG>AAG		BCL-6 interacting corepressor isoform c							124.0	100.0	108.0					X																	39930340		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39930340C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3124G>A	X.37:g.39930340C>T	ENSP00000367705:p.Glu1042Lys					BCOR_uc004dep.3_Missense_Mutation_p.E1042K|BCOR_uc004deo.3_Missense_Mutation_p.E1024K|BCOR_uc004dem.3_Missense_Mutation_p.E1042K	p.E1042K	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			6	3416	-			1042					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.3124G>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126072	0.77436	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	5.87	5.87	0.94306	.	.	.	.	.	T	0.24547	0.0595	L	0.29908	0.895	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.951;0.991;0.934	T	0.00847	-1.1542	9	0.49607	T	0.09	-26.5127	19.1908	0.93666	0.0:1.0:0.0:0.0	.	1024;1042;1042	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	K	1024;1042;1042;1042;1042	ENSP00000367716:E1024K;ENSP00000380512:E1042K;ENSP00000367705:E1042K;ENSP00000345923:E1042K;ENSP00000384485:E1042K	ENSP00000345923:E1042K	E	-	1	0	BCOR	39815284	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.337000	0.65941	2.483000	0.83821	0.600000	0.82982	GAG		0.488	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2		NM_017745		30	2	0	0	0	0.009535	0	30	2		
CHST7	56548	broad.mit.edu	37	X	46434158	46434158	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:46434158G>A	ENST00000276055.3	+	1	940	c.792G>A	c.(790-792)ttG>ttA	p.L264L		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	264					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TGCCCCTGTTGCGTGATCCAG	0.657																																						uc004dgt.2		NaN																	0				breast(3)	3						c.(790-792)TTG>TTA		chondroitin 6-sulfotransferase 7							78.0	57.0	65.0					X																	46434158		2203	4300	6503	SO:0001819	synonymous_variant	56548				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity	g.chrX:46434158G>A	AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"""Sulfotransferases, membrane-bound"""	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.792G>A	X.37:g.46434158G>A							p.L264L	NM_019886	NP_063939	Q9NS84	CHST7_HUMAN			1	967	+			264			Lumenal (Potential).		O75667	Silent	SNP	ENST00000276055.3	37	c.792G>A	CCDS14268.1																																																																																				0.657	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056362.1		NM_019886		3	12	0	0	0	0.004672	0	3	12		
ITIH6	347365	broad.mit.edu	37	X	54783526	54783526	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:54783526G>T	ENST00000218436.6	-	8	3010	c.2981C>A	c.(2980-2982)cCt>cAt	p.P994H		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	994	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GATGGCCTCAGGGAGGATGCT	0.547																																						uc004dtj.2		NaN																	0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(2980-2982)CCT>CAT		inter-alpha (globulin) inhibitor H5-like							95.0	79.0	85.0					X																	54783526		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783526G>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2981C>A	X.37:g.54783526G>T	ENSP00000218436:p.Pro994His						p.P994H	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	3011	-			994			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2981C>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155503	0.57259	.	.	ENSG00000102313	ENST00000218436	T	0.02709	4.19	4.34	4.34	0.51931	.	0.980679	0.08240	U	0.976295	T	0.06872	0.0175	N	0.19112	0.55	0.24611	N	0.993721	D	0.71674	0.998	P	0.58520	0.84	T	0.52593	-0.8555	10	0.72032	D	0.01	.	13.5062	0.61485	0.0:0.0:1.0:0.0	.	994	Q6UXX5	ITH5L_HUMAN	H	994	ENSP00000218436:P994H	ENSP00000218436:P994H	P	-	2	0	ITIH5L	54800251	0.980000	0.34600	0.838000	0.33150	0.772000	0.43724	2.327000	0.43858	1.746000	0.51805	0.594000	0.82650	CCT		0.547	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2		NM_198510		18	22	1	0	1.00905e-13	0.008871	1.06394e-13	18	22		
ITGB1BP2	26548	broad.mit.edu	37	X	70521663	70521663	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:70521663C>G	ENST00000373829.3	+	1	80	c.7C>G	c.(7-9)Cta>Gta	p.L3V	ITGB1BP2_ENST00000538820.1_5'UTR	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	3					muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					TTCCATGTCTCTACTCTGTCG	0.507																																						uc004dzr.1		NaN																	0				ovary(1)	1						c.(7-9)CTA>GTA		integrin beta 1 binding protein 2							79.0	70.0	73.0					X																	70521663		2203	4300	6503	SO:0001583	missense	26548				muscle organ development|signal transduction		SH3 domain binding	g.chrX:70521663C>G	AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.7C>G	X.37:g.70521663C>G	ENSP00000362935:p.Leu3Val					BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_5'UTR	p.L3V	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN			1	36	+	Renal(35;0.156)		3					Q32N04|Q549J7	Missense_Mutation	SNP	ENST00000373829.3	37	c.7C>G	CCDS14411.1	.	.	.	.	.	.	.	.	.	.	c	12.78	2.042036	0.35989	.	.	ENSG00000147166	ENST00000373829	.	.	.	4.9	3.04	0.35103	Cysteine/histidine-rich domain (1);	0.236453	0.35677	N	0.003056	T	0.33847	0.0877	N	0.25245	0.725	0.80722	D	1	P	0.37423	0.594	B	0.39562	0.303	T	0.06899	-1.0801	9	0.30078	T	0.28	-0.6204	5.0191	0.14352	0.0:0.6714:0.2118:0.1168	.	3	Q9UKP3	ITBP2_HUMAN	V	3	.	ENSP00000362935:L3V	L	+	1	2	ITGB1BP2	70438388	0.471000	0.25862	0.963000	0.40424	0.980000	0.70556	0.079000	0.14782	2.265000	0.75225	0.600000	0.82982	CTA		0.507	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1		NM_012278		46	1	0	0	0	0.00361	0	46	1		
SLC16A2	6567	broad.mit.edu	37	X	73745728	73745728	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:73745728G>T	ENST00000587091.1	+	4	1347	c.1170G>T	c.(1168-1170)caG>caT	p.Q390H	SLC16A2_ENST00000276033.5_Splice_Site_p.Q464H	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	390					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TCTACTTGCAGGTGAGTGTGA	0.522																																						uc004ebt.2		NaN																	0				breast(2)|ovary(1)	3						c.(1390-1392)CAG>CAT		solute carrier family 16, member 2	Pyruvic acid(DB00119)						117.0	100.0	105.0					X																	73745728		2203	4300	6503	SO:0001630	splice_region_variant	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73745728G>T		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1170+1G>T	X.37:g.73745728G>T						SLC16A2_uc010nlr.1_Missense_Mutation_p.Q139H	p.Q464H	NM_006517	NP_006508	P36021	MOT8_HUMAN			4	1558	+			390			Helical; (Potential).		Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.1392G>T	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767287	0.69878	.	.	ENSG00000147100	ENST00000276033	T	0.58506	0.33	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.060150	0.64402	D	0.000002	T	0.60444	0.2269	M	0.64997	1.995	0.80722	D	1	B	0.32968	0.392	B	0.37943	0.261	T	0.61217	-0.7107	10	0.38643	T	0.18	.	17.4803	0.87671	0.0:0.0:1.0:0.0	.	390	P36021	MOT8_HUMAN	H	464	ENSP00000276033:Q464H	ENSP00000276033:Q464H	Q	+	3	2	SLC16A2	73662453	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.647000	0.83462	2.052000	0.61016	0.597000	0.82753	CAG		0.522	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			Missense_Mutation	20	23	1	0	1.50039e-11	0.012319	1.56697e-11	20	23		
CSTF2	1478	broad.mit.edu	37	X	100088252	100088252	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:100088252G>A	ENST00000372972.2	+	11	1307	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	CSTF2_ENST00000415585.2_Missense_Mutation_p.E451K	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	431	12 X 5 AA tandem repeats of M-E-A-R-[AG].				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CAGAGGATTAGAGGCCCGTGC	0.587																																						uc004egh.2		NaN																	0				skin(1)	1						c.(1291-1293)GAG>AAG		cleavage stimulation factor subunit 2							49.0	40.0	43.0					X																	100088252		2203	4300	6503	SO:0001583	missense	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding	g.chrX:100088252G>A	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1291G>A	X.37:g.100088252G>A	ENSP00000362063:p.Glu431Lys					CSTF2_uc010nnd.2_Missense_Mutation_p.E451K|CSTF2_uc004egi.2_Missense_Mutation_p.E414K	p.E431K	NM_001325	NP_001316	P33240	CSTF2_HUMAN			11	1349	+			431			5; approximate.|12 X 5 AA tandem repeats of M-E-A-R-[AG].		Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	c.1291G>A	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084250	0.55861	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	T;T	0.13901	2.55;2.57	4.15	4.15	0.48705	.	0.329009	0.28376	N	0.015569	T	0.25975	0.0633	L	0.40543	1.245	0.38033	D	0.935237	B;B;D	0.58268	0.393;0.007;0.982	B;B;D	0.67548	0.16;0.005;0.952	T	0.07424	-1.0773	10	0.19590	T	0.45	-2.8865	16.484	0.84179	0.0:0.0:1.0:0.0	.	451;414;431	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	K	451;431;407	ENSP00000387996:E451K;ENSP00000362063:E431K	ENSP00000362063:E431K	E	+	1	0	CSTF2	99974908	1.000000	0.71417	0.916000	0.36221	0.902000	0.53008	5.017000	0.64047	1.999000	0.58509	0.506000	0.49869	GAG		0.587	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1		NM_001325		14	3	0	0	0	0.00499	0	14	3		
ARMCX5	64860	broad.mit.edu	37	X	101857861	101857861	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:101857861G>C	ENST00000604957.1	+	1	3414	c.792G>C	c.(790-792)ttG>ttC	p.L264F	ARMCX5_ENST00000536530.1_Missense_Mutation_p.L264F|ARMCX5_ENST00000541409.1_Missense_Mutation_p.L264F|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.L264F|ARMCX5_ENST00000537008.1_Missense_Mutation_p.L264F|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.L264F	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	264										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TTCGACCTTTGACCAAGATCC	0.483																																						uc004ejg.2		NaN																	0				ovary(1)	1						c.(790-792)TTG>TTC		armadillo repeat containing, X-linked 5							103.0	95.0	98.0					X																	101857861		2203	4300	6503	SO:0001583	missense	64860						binding	g.chrX:101857861G>C		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.792G>C	X.37:g.101857861G>C	ENSP00000474720:p.Leu264Phe					ARMCX5_uc004ejh.2_Missense_Mutation_p.L264F	p.L264F	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN			6	1673	+			264					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.792G>C	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.364952	0.41902	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	3.7	0.771	0.18504	.	0.000000	0.33346	N	0.005008	T	0.19485	0.0468	N	0.19112	0.55	0.28533	N	0.912491	D	0.76494	0.999	D	0.66716	0.946	T	0.11060	-1.0603	10	0.29301	T	0.29	-3.2117	1.6421	0.02754	0.1259:0.2073:0.4504:0.2165	.	264	Q6P1M9	ARMX5_HUMAN	F	264	ENSP00000246174:L264F;ENSP00000439001:L264F;ENSP00000446385:L264F;ENSP00000445851:L264F;ENSP00000361827:L264F	ENSP00000246174:L264F	L	+	3	2	ARMCX5	101744517	0.996000	0.38824	0.995000	0.50966	0.994000	0.84299	0.073000	0.14640	0.046000	0.15833	0.600000	0.82982	TTG		0.483	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1		NM_022838		30	52	0	0	0	0.007835	0	30	52		
H2BFWT	158983	broad.mit.edu	37	X	103267744	103267744	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:103267744G>C	ENST00000217926.5	-	1	515	c.489C>G	c.(487-489)ctC>ctG	p.L163L	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	163						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TGGTGTACCTGAGGACAGCCT	0.632																																						uc004elr.2		NaN																	0				ovary(1)	1						c.(487-489)CTC>CTG		H2B histone family, member W, testis-specific							39.0	40.0	40.0					X																	103267744		2200	4293	6493	SO:0001819	synonymous_variant	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103267744G>C	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.489C>G	X.37:g.103267744G>C							p.L163L	NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN			1	513	-			163					B1AK72|Q147W3	Silent	SNP	ENST00000217926.5	37	c.489C>G	CCDS35362.1																																																																																				0.632	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2		NM_001002916		34	7	0	0	0	0.005524	0	34	7		
GPR101	83550	broad.mit.edu	37	X	136112978	136112978	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:136112978C>A	ENST00000298110.1	-	1	855	c.856G>T	c.(856-858)Gcc>Tcc	p.A286S		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CCTTCCTTGGCCTTCAGGCTG	0.612																																						uc011mwh.1		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(856-858)GCC>TCC		G protein-coupled receptor 101							191.0	130.0	151.0					X																	136112978		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112978C>A	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.856G>T	X.37:g.136112978C>A	ENSP00000298110:p.Ala286Ser						p.A286S	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	856	-	Acute lymphoblastic leukemia(192;0.000127)		286			Cytoplasmic (Potential).		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.856G>T	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.324745	0.01309	.	.	ENSG00000165370	ENST00000298110	T	0.62941	-0.01	3.76	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.33556	0.0867	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.22208	-1.0223	9	0.09843	T	0.71	-1.2963	4.8726	0.13640	0.0:0.6287:0.1981:0.1732	.	286	Q96P66	GP101_HUMAN	S	286	ENSP00000298110:A286S	ENSP00000298110:A286S	A	-	1	0	GPR101	135940644	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.532000	0.06164	0.209000	0.20645	0.600000	0.82982	GCC		0.612	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1				89	77	1	0	7.28744e-38	0.00361	7.93789e-38	89	77		
PLXNB3	5365	broad.mit.edu	37	X	153044065	153044065	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:153044065C>G	ENST00000361971.5	+	35	5675	c.5561C>G	c.(5560-5562)tCt>tGt	p.S1854C	SRPK3_ENST00000370101.3_5'Flank|SRPK3_ENST00000393786.3_5'Flank|SRPK3_ENST00000370100.1_5'Flank|SRPK3_ENST00000489426.1_5'UTR|SRPK3_ENST00000370104.1_5'Flank|PLXNB3_ENST00000538776.1_Missense_Mutation_p.S1507C|SRPK3_ENST00000370108.3_5'Flank|PLXNB3_ENST00000538966.1_Missense_Mutation_p.S1877C	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1854					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AACTACACTTCTGCTCCCCAC	0.612																																						uc004fii.2		NaN																	0				lung(1)	1						c.(5560-5562)TCT>TGT		plexin B3 isoform 1							60.0	48.0	52.0					X																	153044065		2199	4296	6495	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153044065C>G	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5561C>G	X.37:g.153044065C>G	ENSP00000355378:p.Ser1854Cys					PLXNB3_uc010nuk.2_Missense_Mutation_p.S1877C|PLXNB3_uc011mzd.1_Missense_Mutation_p.S1493C|SRPK3_uc004fik.2_5'UTR|SRPK3_uc010nul.2_5'Flank|SRPK3_uc004fin.2_5'Flank|SRPK3_uc004fil.2_5'Flank|SRPK3_uc004fim.2_5'Flank	p.S1854C	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			35	5735	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1854			Cytoplasmic (Potential).		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.5561C>G	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729670	0.30684	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776	T;T;T	0.12569	2.67;2.67;2.67	4.24	3.37	0.38596	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.351659	0.31010	N	0.008438	T	0.29126	0.0724	L	0.53249	1.67	0.47621	D	0.999473	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73708	0.971;0.951;0.981	T	0.01287	-1.1395	10	0.66056	D	0.02	.	10.6883	0.45856	0.0:0.8998:0.0:0.1002	.	1507;1877;1854	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	C	1877;1854;1507	ENSP00000442736:S1877C;ENSP00000355378:S1854C;ENSP00000445569:S1507C	ENSP00000355378:S1854C	S	+	2	0	PLXNB3	152697259	0.997000	0.39634	0.081000	0.20488	0.229000	0.25112	4.088000	0.57678	0.922000	0.37019	-0.365000	0.07479	TCT		0.612	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1				4	8	0	0	0	0.000602	0	4	8		
BARHL2	343472	broad.mit.edu	37	1	91182377	91182377	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:91182377delG	ENST00000370445.4	-	1	417	c.376delC	c.(376-378)cagfs	p.Q127fs		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	127	Gln/Pro-rich.				cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CCCAGCTGCTGGGGGggcggc	0.692																																					GBM(199;3561 4100 22440)	uc001dns.2		NaN																	0				ovary(1)	1						c.(376-378)CAGfs		BarH-like homeobox 2							4.0	5.0	5.0					1																	91182377		1895	3764	5659	SO:0001589	frameshift_variant	343472					nucleus	sequence-specific DNA binding	g.chr1:91182377delG	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.376delC	1.37:g.91182377delG	ENSP00000359474:p.Gln127fs						p.Q126fs	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	418	-		all_lung(203;0.0263)|Lung SC(238;0.128)	126			Gln/Pro-rich.		A0AVP2|Q7Z4N7	Frame_Shift_Del	DEL	ENST00000370445.4	37	c.376delC	CCDS730.1																																																																																				0.692	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2				2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:160589601delT	ENST00000302035.6	-	5	1178	c.829delA	c.(829-831)agcfs	p.S277fs	SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000538290.1_Intron	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	277					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433																																						uc001fwl.3		NaN																	0				ovary(1)|breast(1)	2						c.(829-831)AGCfs		signaling lymphocytic activation molecule family							265.0	264.0	264.0					1																	160589601		2203	4300	6503	SO:0001589	frameshift_variant	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160589601delT	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.829delA	1.37:g.160589601delT	ENSP00000306190:p.Ser277fs					SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron	p.S277fs	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		5	1175	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		277			Cytoplasmic (Potential).|Ig-like V-type.		Q5W172|Q9HBE8	Frame_Shift_Del	DEL	ENST00000302035.6	37	c.829delA	CCDS1207.1																																																																																				0.433	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1				7	488	NaN	NaN	NaN	NaN	NaN	7	488	---	---
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs544132101|rs78912196		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269																																						uc001jkf.2		NaN																	0					0						c.(430-432)ACAfs		transcription factor A, mitochondrial precursor							39.0	47.0	44.0					10																	60148570		2195	4296	6491	SO:0001589	frameshift_variant	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60148570delA	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.432delA	10.37:g.60148570delA	ENSP00000420588:p.Thr144fs					TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Frame_Shift_Del_p.T144fs	p.T144fs	NM_003201	NP_003192	Q00059	TFAM_HUMAN			4	564	+			144					A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Del	DEL	ENST00000487519.1	37	c.432delA	CCDS7253.1																																																																																				0.269	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1		NM_003201		8	26	NaN	NaN	NaN	NaN	NaN	8	26	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81052006	81052026	+	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	GCAGCAGCGGCAGTGGCAGCA	-	rs551280800		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	ENST00000334512.5	+	11	1422_1442	c.850_870delGCAGCAGCGGCAGTGGCAGCA	c.(850-870)gcagcagcggcagtggcagcadel	p.AAAAVAA284del	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	284	Ala-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ggcagccgctgcagcagcggcagtggcagcagcagcagcCA	0.652																																						uc001kaf.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(850-870)GCAGCAGCGGCAGTGGCAGCAdel		retinoic acid induced 17																																				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.850_870delGCAGCAGCGGCAGTGGCAGCA	10.37:g.81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	ENSP00000334474:p.Ala284_Ala290del					ZMIZ1_uc001kag.2_In_Frame_Del_p.AAAAVAA160del|ZMIZ1_uc001kah.1_In_Frame_Del_p.AAAAVAA160del	p.AAAAVAA284del	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		11	1422_1442	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		284_290			Ala-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.850_870delGCAGCAGCGGCAGTGGCAGCA	CCDS7357.1																																																																																				0.652	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2		NM_020338		48	82	NaN	NaN	NaN	NaN	NaN	48	82	---	---
PAK6	56924	broad.mit.edu	37	15	40566413	40566424	+	In_Frame_Del	DEL	CCCCAGTGCAAG	CCCCAGTGCAAG	-	rs74468066		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:40566413_40566424delCCCCAGTGCAAG	ENST00000542403.2	+	8	1925_1936	c.1814_1825delCCCCAGTGCAAG	c.(1813-1827)tccccagtgcaagcc>tcc	p.PVQA606del	PAK6_ENST00000260404.4_In_Frame_Del_p.PVQA606del|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_In_Frame_Del_p.PVQA606del|PAK6_ENST00000455577.2_Intron|PAK6_ENST00000560346.1_In_Frame_Del_p.PVQA606del|PAK6_ENST00000441369.1_In_Frame_Del_p.PVQA606del	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	606	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TTCAGTGACTCCCCAGTGCAAGCCATGAAGAG	0.571											OREG0023057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010bbl.2		NaN																	0				lung(5)|large_intestine(1)|ovary(1)|skin(1)	8						c.(1813-1827)TCCCCAGTGCAAGCC>TCC		p21-activated kinase 6																																				SO:0001651	inframe_deletion	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40566413_40566424delCCCCAGTGCAAG	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1814_1825delCCCCAGTGCAAG	15.37:g.40566413_40566424delCCCCAGTGCAAG	ENSP00000439597:p.Pro606_Ala609del		OREG0023057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894	PAK6_uc010bbm.2_In_Frame_Del_p.PVQA606del|PAK6_uc001zky.3_Intron|PAK6_uc010bbn.2_In_Frame_Del_p.PVQA606del|PAK6_uc001zlb.2_In_Frame_Del_p.PVQA606del	p.PVQA606del	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	10	2254_2265	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	606_609			Protein kinase.		A8K2G2|B3KYB0|G5E9R2	In_Frame_Del	DEL	ENST00000542403.2	37	c.1814_1825delCCCCAGTGCAAG	CCDS10054.1																																																																																				0.571	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1				40	87	NaN	NaN	NaN	NaN	NaN	40	87	---	---
ANKRD11	29123	broad.mit.edu	37	16	89349651	89349651	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:89349651delG	ENST00000301030.4	-	9	3759	c.3299delC	c.(3298-3300)tctfs	p.S1100fs	ANKRD11_ENST00000378330.2_Frame_Shift_Del_p.S1100fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1100	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTTTTTTTCAGAGAAGTCTTC	0.463																																						uc002fmx.1		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3298-3300)TCTfs		ankyrin repeat domain 11							145.0	143.0	144.0					16																	89349651		2198	4300	6498	SO:0001589	frameshift_variant	29123					nucleus		g.chr16:89349651delG	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3299delC	16.37:g.89349651delG	ENSP00000301030:p.Ser1100fs					ANKRD11_uc002fmy.1_Frame_Shift_Del_p.S1100fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.S1100fs|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.S1057fs	p.S1100fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3760	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1100			Lys-rich.		Q6NTG1|Q6QMF8	Frame_Shift_Del	DEL	ENST00000301030.4	37	c.3299delC	CCDS32513.1																																																																																				0.463	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3		NM_013275		22	39	NaN	NaN	NaN	NaN	NaN	22	39	---	---
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:3721809_3721811delTCC	ENST00000389005.4	-	10	1083_1085	c.1056_1058delGGA	c.(1054-1059)gaggaa>gaa	p.352_353EE>E	C17orf85_ENST00000158149.3_In_Frame_Del_p.72_73EE>E	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	352	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507																																						uc010ckl.1		NaN																	0				skin(1)	1						c.(1054-1059)GAGGAA>GAA		ELG protein isoform a																																				SO:0001651	inframe_deletion	55421						nucleotide binding	g.chr17:3721809_3721811delTCC		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1056_1058delGGA	17.37:g.3721818_3721820delTCC	ENSP00000373657:p.Glu359del					C17orf85_uc002fwr.2_In_Frame_Del_p.62_63EE>E|C17orf85_uc002fwq.2_In_Frame_Del_p.72_73EE>E	p.352_353EE>E	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	10	1079_1081	-			352_353			Glu-rich.		B3KWG7|Q7L406|Q96FK1|Q9NXZ4	In_Frame_Del	DEL	ENST00000389005.4	37	c.1056_1058delGGA	CCDS45578.1																																																																																				0.507	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1		NM_018553		9	169	NaN	NaN	NaN	NaN	NaN	9	169	---	---
WRAP53	55135	broad.mit.edu	37	17	7606722	7606722	+	Frame_Shift_Del	DEL	C	C	-	rs7640|rs373064567	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:7606722delC	ENST00000316024.5	+	10	3913	c.1565delC	c.(1564-1566)gcgfs	p.A522fs	WRAP53_ENST00000431639.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000457584.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000396463.2_Frame_Shift_Del_p.A522fs|EFNB3_ENST00000226091.2_5'Flank|WRAP53_ENST00000534050.1_Frame_Shift_Del_p.A489fs			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	522			A -> G (in dbSNP:rs7640). {ECO:0000269|PubMed:21205863}.		positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)	p.A522G(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TGTGGGGGGGCGCCAGACTCC	0.582																																						uc010vuh.1		NaN																	1	Substitution - Missense(1)		stomach(1)		0						c.(1564-1566)GCGfs		WD repeat domain 79 isoform 2							47.0	48.0	48.0					17																	7606722		2203	4300	6503	SO:0001589	frameshift_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7606722delC	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1565delC	17.37:g.7606722delC	ENSP00000324203:p.Ala522fs					WRAP53_uc010vui.1_Frame_Shift_Del_p.A522fs|WRAP53_uc002gip.2_Frame_Shift_Del_p.A522fs|WRAP53_uc002gir.2_Frame_Shift_Del_p.A522fs|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Frame_Shift_Del_p.A489fs|EFNB3_uc002gis.2_5'Flank	p.A522fs	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN			11	1720	+			522					B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Frame_Shift_Del	DEL	ENST00000316024.5	37	c.1565delC	CCDS11119.1																																																																																				0.582	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2		NM_018081		7	179	NaN	NaN	NaN	NaN	NaN	7	179	---	---
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:39898948_39898950delCAC	ENST00000248673.3	+	2	648_650	c.590_592delCAC	c.(589-594)tcacca>tca	p.P201del	ZFP36_ENST00000597629.1_In_Frame_Del_p.P207del|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	201					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685																																					NSCLC(67;1164 1324 12056 21056 30097)	uc002olh.1		NaN																	0				pancreas(1)	1						c.(589-594)TCACCA>TCA		zinc finger protein 36, C3H type, homolog				17,4235		5,7,2114						3.3	0.1			74	14,8216		2,10,4103	no	coding	ZFP36	NM_003407.2		7,17,6217	A1A1,A1R,RR		0.1701,0.3998,0.2484				31,12451				SO:0001651	inframe_deletion	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898948_39898950delCAC	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.590_592delCAC	19.37:g.39898957_39898959delCAC	ENSP00000248673:p.Pro201del					ZFP36_uc010egn.1_In_Frame_Del_p.H73del	p.P201del	NM_003407	NP_003398	P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	648_650	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		201			P-P-P-P-G.		B2RA54	In_Frame_Del	DEL	ENST00000248673.3	37	c.590_592delCAC																																																																																					0.685	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding					8	725	NaN	NaN	NaN	NaN	NaN	8	725	---	---
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035					uc002trc.2		NaN																	1	Deletion - In frame(1)		prostate(1)	ovary(3)|kidney(1)	4						c.(1111-1119)CAGACGGGG>CAG		protein tyrosine phosphatase, non-receptor type			,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129929_131129934delGACGGG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del					PTPN18_uc002trd.2_In_Frame_Del_p.TG357del|PTPN18_uc002trb.2_In_Frame_Del_p.TG271del|PTPN18_uc002tre.2_In_Frame_Del_p.TG29del	p.TG378del	NM_014369	NP_055184	Q99952	PTN18_HUMAN			13	1214_1219	+	Colorectal(110;0.1)		378_379	Missing (in Ref. 1; CAA56105).				B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	c.1113_1118delGACGGG	CCDS2161.1																																																																																				0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2				2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
COL6A2	1292	broad.mit.edu	37	21	47538527	47538527	+	Splice_Site	DEL	G	G	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:47538527delG	ENST00000300527.4	+	13	1220		c.e13-1		COL6A2_ENST00000357838.4_Splice_Site|COL6A2_ENST00000310645.5_Splice_Site|COL6A2_ENST00000409416.1_Splice_Site|COL6A2_ENST00000397763.1_Splice_Site	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AACCCTTCCAGGGGGACCCTG	0.687																																						uc002zia.1		NaN																	0				central_nervous_system(7)|ovary(1)	8						c.e13-1		alpha 2 type VI collagen isoform 2C2 precursor							26.0	29.0	28.0					21																	47538527		2198	4295	6493	SO:0001630	splice_region_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47538527delG	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1117-1G>-	21.37:g.47538527delG						COL6A2_uc002zhy.1_Splice_Site_p.G373_splice|COL6A2_uc002zhz.1_Splice_Site_p.G373_splice|COL6A2_uc002zib.1_Intron	p.G373_splice	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	13	1199	+	Breast(49;0.245)							Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Splice_Site	DEL	ENST00000300527.4	37	c.1117_splice	CCDS13728.1																																																																																				0.687	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			Intron	21	25	NaN	NaN	NaN	NaN	NaN	21	25	---	---
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-	rs542081559		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcgctg>gcg	p.L144del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	144	Leucine-zipper. {ECO:0000255}.				apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724																																						uc003bdk.2		NaN																	0					0						c.(415-420)GCGCTG>GCG		BCL2-interacting killer				9,134,3841		1,0,7,18,98,1868						-8.8	0.0			26	9,256,7523		1,0,7,46,164,3676	no	codingComplex	BIK	NM_001197.4		2,0,14,64,262,5544	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4027,3.5894,3.4659				18,390,11364				SO:0001651	inframe_deletion	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43525245_43525247delGCT	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.417_419delGCT	22.37:g.43525254_43525256delGCT	ENSP00000216115:p.Leu144del						p.L144del	NM_001197	NP_001188	Q13323	BIK_HUMAN			5	477_479	+		Ovarian(80;0.0694)	144			Leucine-zipper (Potential).|Helical; (Potential).		Q16582|Q6FH93	In_Frame_Del	DEL	ENST00000216115.2	37	c.417_419delGCT	CCDS14044.1																																																																																				0.724	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1		NM_001197		9	163	NaN	NaN	NaN	NaN	NaN	9	163	---	---
ANO10	55129	broad.mit.edu	37	3	43647213	43647213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:43647213delT	ENST00000292246.3	-	2	302	c.132delA	c.(130-132)aaafs	p.K44fs	ANO10_ENST00000396091.3_Frame_Shift_Del_p.K44fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs|ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	44					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CACCTCCATCTTTTTTTTTAG	0.408																																						uc003cmv.2		NaN																	0				ovary(2)	2						c.(130-132)AAAfs		transmembrane protein 16K							142.0	128.0	133.0					3																	43647213		2203	4300	6503	SO:0001589	frameshift_variant	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43647213delT	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.132delA	3.37:g.43647213delT	ENSP00000292246:p.Lys44fs					ANO10_uc011azs.1_Frame_Shift_Del_p.K44fs|ANO10_uc003cmw.2_Frame_Shift_Del_p.K44fs|ANO10_uc010hil.2_Frame_Shift_Del_p.K44fs|ANO10_uc011azt.1_Frame_Shift_Del_p.K44fs	p.K44fs	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN			2	303	-			44			Cytoplasmic (Potential).		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Frame_Shift_Del	DEL	ENST00000292246.3	37	c.132delA	CCDS2710.2																																																																																				0.408	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2		NM_018075		8	77	NaN	NaN	NaN	NaN	NaN	8	77	---	---
H1FOO	132243	broad.mit.edu	37	3	129268112	129268113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:129268112_129268113insG	ENST00000324382.2	+	3	652_653	c.647_648insG	c.(646-651)aaggtgfs	p.V217fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.V78fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	217					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|lung(4)|skin(1)	6						GAGGCTAGGAAGGTGCCCCCCA	0.649																																						uc003emu.2		NaN																	0				skin(1)	1						c.(646-648)AAGfs		H1 histone family, member O, oocyte-specific																																				SO:0001589	frameshift_variant	132243				meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	g.chr3:129268112_129268113insG	AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"""Histones / Replication-independent"""	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.649dupG	3.37:g.129268114_129268114dupG	ENSP00000319799:p.Val217fs					H1FOO_uc003emv.2_Frame_Shift_Ins_p.K77fs	p.K216fs	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN			3	652_653	+			216					Q86WT7	Frame_Shift_Ins	INS	ENST00000324382.2	37	c.647_648insG	CCDS3064.1																																																																																				0.649	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356100.3		NM_153833		3	6	NaN	NaN	NaN	NaN	NaN	3	6	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	-	CG	rs144787346		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:1388441_1388442insCG	ENST00000324803.4	+	1	3102_3103	c.142_143insCG	c.(142-144)atgfs	p.M48fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	48					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644																																						uc003gdf.2		NaN																	0					0						c.(142-144)ATGfs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388441_1388442insCG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	Exception_encountered	4.37:g.1388441_1388442insCG	ENSP00000323978:p.Met48fs						p.M48fs	NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3102_3103	+			48			1.		Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	c.142_143insCG	CCDS3349.1																																																																																				0.644	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2		NM_175918		9	1049	NaN	NaN	NaN	NaN	NaN	9	1049	---	---
MARCH1	55016	broad.mit.edu	37	4	165118286	165118288	+	Intron	DEL	TCC	TCC	-	rs374180838		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:165118286_165118288delTCC	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E192E(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ctcttcaccttcctcctcctcct	0.547																																						uc011cjk.1		NaN																	1	Substitution - coding silent(1)		ovary(1)		0						c.(574-579)GAGGAA>GAA		acidic nuclear phosphoprotein 32C																																				SO:0001627	intron_variant	23520							g.chr4:165118286_165118288delTCC	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85472GGA>-	4.37:g.165118295_165118297delTCC						MARCH1_uc003iqs.1_Intron	p.192_193EE>E	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	576_578	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	192_193			Asp/Glu-rich (highly acidic).		D3DP29|Q9NWR0	In_Frame_Del	DEL	ENST00000503008.1	37	c.576_578delGGA	CCDS54814.1																																																																																				0.547	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2		NM_017923		5	11	NaN	NaN	NaN	NaN	NaN	5	11	---	---
PCDHB4	56131	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	-	A	rs372292910		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140502486_140502487insA	ENST00000194152.1	+	1	906_907	c.906_907insA	c.(907-909)aaafs	p.K303fs	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K305fs*12(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366																																						uc003lip.1		NaN																	1	Deletion - Frameshift(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(904-909)TTGAAAfs		protocadherin beta 4 precursor				6,4244		0,6,2119						3.5	0.7			99	16,8224		0,16,4104	no	frameshift	PCDHB4	NM_018938.2		0,22,6223	A1A1,A1R,RR		0.1942,0.1412,0.1761				22,12468				SO:0001589	frameshift_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502486_140502487insA	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.915dupA	5.37:g.140502495_140502495dupA	ENSP00000194152:p.Lys303fs						p.L302fs	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	906_907	+			302_303			Cadherin 3.|Extracellular (Potential).		Q4V761	Frame_Shift_Ins	INS	ENST00000194152.1	37	c.906_907insA	CCDS4246.1																																																																																				0.366	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2		NM_018938		8	138	NaN	NaN	NaN	NaN	NaN	8	138	---	---
WBSCR28	135886	broad.mit.edu	37	7	73280067	73280068	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:73280067_73280068insC	ENST00000320531.2	+	3	698_699	c.662_663insC	c.(661-666)cacacgfs	p.T222fs		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	222						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GCCTTTGAGCACACGACCCAGC	0.629																																						uc003tzk.2		NaN																	0				breast(1)	1						c.(661-663)CACfs		hypothetical protein LOC135886																																				SO:0001589	frameshift_variant	135886					integral to membrane		g.chr7:73280067_73280068insC	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.663dupC	7.37:g.73280068_73280068dupC	ENSP00000316775:p.Thr222fs					RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Frame_Shift_Ins_p.H120fs	p.H221fs	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN			3	698_699	+		Lung NSC(55;0.159)	221					Q6UE04|Q8NHP4	Frame_Shift_Ins	INS	ENST00000320531.2	37	c.662_663insC	CCDS43597.1																																																																																				0.629	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1		NM_182504		7	511	NaN	NaN	NaN	NaN	NaN	7	511	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G	rs375659563		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.e36-1		fibrocystin L precursor																																				SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455173_110455174insG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4394-1->G	8.37:g.110455175_110455175dupG		HNSCC(38;0.096)					p.G1465_splice	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		36	4498	+								Q567P2|Q9UF27	Splice_Site	INS	ENST00000378402.5	37	c.4394_splice	CCDS47911.1																																																																																				0.322	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531	Intron	8	116	NaN	NaN	NaN	NaN	NaN	8	116	---	---
SLC45A4	57210	broad.mit.edu	37	8	142228490	142228492	+	In_Frame_Del	DEL	GCC	GCC	-	rs368794575		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:142228490_142228492delGCC	ENST00000024061.3	-	4	1401_1403	c.1094_1096delGGC	c.(1093-1098)cggcac>cac	p.R365del	SLC45A4_ENST00000519067.1_In_Frame_Del_p.R365del|SLC45A4_ENST00000517878.1_In_Frame_Del_p.R416del|SLC45A4_ENST00000433583.2_In_Frame_Del_p.R358del	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGGAACGCGTGCCGCCGCCGCCG	0.675																																						uc003ywd.1		NaN																	0				ovary(2)	2						c.(1093-1098)CGGCAC>CAC		solute carrier family 45, member 4																																				SO:0001651	inframe_deletion	57210				transport	integral to membrane		g.chr8:142228490_142228492delGCC	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1094_1096delGGC	8.37:g.142228499_142228501delGCC	ENSP00000024061:p.Arg365del					SLC45A4_uc003ywc.1_In_Frame_Del_p.R365del|SLC45A4_uc010meq.1_In_Frame_Del_p.R363del	p.R365del	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1402_1404	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		416					Q6ZRI2|Q9ULU3	In_Frame_Del	DEL	ENST00000024061.3	37	c.1094_1096delGGC	CCDS34948.1																																																																																				0.675	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3		XM_050325		7	265	NaN	NaN	NaN	NaN	NaN	7	265	---	---
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:117406_117407insG	ENST00000382500.2	-	1	1010_1011	c.713_714insC	c.(712-714)ccgfs	p.P238fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	238	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743																																						uc003zfz.2		NaN																	0				skin(1)	1						c.(712-714)CCGfs		forkhead box D4																																				SO:0001589	frameshift_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117406_117407insG	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.714dupC	9.37:g.117410_117410dupG	ENSP00000371940:p.Pro238fs						p.P238fs	NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	1011_1012	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	238			Pro-rich.		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Frame_Shift_Ins	INS	ENST00000382500.2	37	c.713_714insC	CCDS34975.1																																																																																				0.743	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1		NM_207305		7	213	NaN	NaN	NaN	NaN	NaN	7	213	---	---
