#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ADHFE1	137872	broad.mit.edu	37	8	67357628	67357628	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:67357628C>T	ENST00000396623.3	+	6	560	c.529C>T	c.(529-531)Cct>Tct	p.P177S	ADHFE1_ENST00000379385.4_Missense_Mutation_p.P177S|ADHFE1_ENST00000415254.1_Missense_Mutation_p.P129S|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	177					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGTGTCTGTGCCTCTTAAGCC	0.423																																						ENST00000396623.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29						c.(529-531)Cct>Tct		alcohol dehydrogenase, iron containing, 1							246.0	230.0	236.0					8																	67357628		2203	4300	6503	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67357628C>T	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.529C>T	8.37:g.67357628C>T	ENSP00000379865:p.Pro177Ser					ADHFE1_ENST00000415254.1_Missense_Mutation_p.P129S|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.P177S	p.P177S	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		6	560	+		Lung NSC(129;0.197)	177					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.529C>T	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844523	0.51164	.	.	ENSG00000147576	ENST00000379385;ENST00000396623;ENST00000415254	T;T;T	0.44482	0.92;0.92;0.92	5.85	4.01	0.46588	Alcohol dehydrogenase, iron-type (1);	0.154288	0.64402	D	0.000014	T	0.54967	0.1891	M	0.82132	2.575	0.49051	D	0.99974	B	0.31859	0.343	P	0.46389	0.515	T	0.55444	-0.8140	9	.	.	.	-8.2643	9.5167	0.39109	0.25:0.6832:0.0:0.0668	.	177	Q8IWW8	HOT_HUMAN	S	177;177;129	ENSP00000368695:P177S;ENSP00000379865:P177S;ENSP00000407115:P129S	.	P	+	1	0	ADHFE1	67520182	0.978000	0.34361	1.000000	0.80357	0.999000	0.98932	0.796000	0.26986	1.478000	0.48253	0.655000	0.94253	CCT		0.423	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		51	120	0	0	0	1	0	51	120				
RPL31P11	641311	broad.mit.edu	37	1	161654863	161654863	+	RNA	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:161654863G>A	ENST00000426558.1	-	0	179					NR_002595.1				ribosomal protein L31 pseudogene 11																		GAAGCTCTTTGAGTGCCCGAG	0.507																																						ENST00000426558.1																			0																																																			641311							g.chr1:161654863G>A			1q23.3	2010-06-16			ENSG00000213075	ENSG00000213075			35849	pseudogene	pseudogene						19123937	Standard	NR_002595		Approved		uc001gbc.3		OTTHUMG00000034536		1.37:g.161654863G>A								NR_002595.1						0	179	-									RNA	SNP	ENST00000426558.1	37																																																																																						0.507	RPL31P11-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347090.2	NR_002595		17	25	0	0	0	1	0	17	25				
ARHGAP5	394	broad.mit.edu	37	14	32560674	32560674	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr14:32560674C>G	ENST00000345122.3	+	2	1114	c.799C>G	c.(799-801)Caa>Gaa	p.Q267E	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.Q267E|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.Q267E|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.Q267E	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	267	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)		AACACAGAGACAACTTGTTGT	0.328																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				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						c.(799-801)Caa>Gaa		Rho GTPase activating protein 5							120.0	136.0	131.0					14																	32560674		2203	4298	6501	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560674C>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.799C>G	14.37:g.32560674C>G	ENSP00000371897:p.Gln267Glu					ARHGAP5_ENST00000556611.1_Missense_Mutation_p.Q267E|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.Q267E|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.Q267E|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	p.Q267E	NM_001030055.1	NP_001025226.1	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	1114	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		267					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.799C>G	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	C	8.973	0.973524	0.18736	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	5.53	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.17152	0.0412	L	0.35793	1.09	0.54753	D	0.999985	D;D	0.71674	0.998;0.997	D;D	0.87578	0.998;0.995	T	0.08953	-1.0697	10	0.11182	T	0.66	.	14.2113	0.65767	0.0:0.9281:0.0:0.0719	.	267;267	Q13017-2;Q13017	.;RHG05_HUMAN	E	267	ENSP00000452222:Q267E;ENSP00000441692:Q267E;ENSP00000371897:Q267E;ENSP00000393307:Q267E	ENSP00000371897:Q267E	Q	+	1	0	ARHGAP5	31630425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.999000	0.70665	1.332000	0.45431	0.563000	0.77884	CAA		0.328	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		25	197	0	0	0	1	0	25	197				
GPX6	257202	broad.mit.edu	37	6	28474185	28474185	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr6:28474185T>A	ENST00000474923.1	-	3	306	c.263A>T	c.(262-264)gAg>gTg	p.E88V	GPX6_ENST00000483058.1_5'UTR|GPX6_ENST00000361902.1_Missense_Mutation_p.E88V			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	88					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ATTCTTCAGCTCCTCCTGTAG	0.458																																						ENST00000361902.1																			0				NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(262-264)gAg>gTg		glutathione peroxidase 6 (olfactory)	Glutathione(DB00143)						86.0	94.0	91.0					6																	28474185		2092	4264	6356	SO:0001583	missense	257202				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28474185T>A		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.263A>T	6.37:g.28474185T>A	ENSP00000417364:p.Glu88Val					GPX6_ENST00000474923.1_Missense_Mutation_p.E88V|GPX6_ENST00000483058.1_5'UTR	p.E88V	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN			3	312	-			88					Q4PJ17	Missense_Mutation	SNP	ENST00000474923.1	37	c.263A>T		.	.	.	.	.	.	.	.	.	.	T	18.02	3.530992	0.64972	.	.	ENSG00000198704	ENST00000361902;ENST00000474923	T;T	0.04758	3.56;3.56	4.35	4.35	0.52113	Thioredoxin-like fold (2);	0.119433	0.53938	D	0.000044	T	0.06416	0.0165	M	0.86420	2.815	0.80722	D	1	P	0.42735	0.788	B	0.42738	0.396	T	0.00901	-1.1521	10	0.72032	D	0.01	.	10.2224	0.43205	0.0:0.0:0.0:1.0	.	88	P59796	GPX6_HUMAN	V	88	ENSP00000354581:E88V;ENSP00000417364:E88V	ENSP00000354581:E88V	E	-	2	0	GPX6	28582164	1.000000	0.71417	0.997000	0.53966	0.331000	0.28603	5.135000	0.64777	2.170000	0.68504	0.533000	0.62120	GAG		0.458	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	protein_coding	OTTHUMT00000356246.5			24	59	0	0	0	1	0	24	59				
CHRNA9	55584	broad.mit.edu	37	4	40356180	40356180	+	Silent	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr4:40356180G>A	ENST00000310169.2	+	5	1222	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	361					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	GCCTCAGCCCGCACCACAGTA	0.547																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(1081-1083)ccG>ccA		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						130.0	123.0	126.0					4																	40356180		2203	4300	6503	SO:0001819	synonymous_variant	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40356180G>A	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.1083G>A	4.37:g.40356180G>A							p.P361P	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			5	1222	+			361					Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	ENST00000310169.2	37	c.1083G>A	CCDS3459.1																																																																																				0.547	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			4	137	0	0	0	1	0	4	137				
COL11A1	1301	broad.mit.edu	37	1	103431072	103431072	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:103431072G>A	ENST00000370096.3	-	38	3199	c.2887C>T	c.(2887-2889)Cct>Tct	p.P963S	COL11A1_ENST00000358392.2_Missense_Mutation_p.P975S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P847S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P924S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	963	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGCCCAGGAGGGCCGGTC	0.393																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2923-2925)Cct>Tct		collagen, type XI, alpha 1							94.0	109.0	104.0					1																	103431072		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103431072G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2887C>T	1.37:g.103431072G>A	ENSP00000359114:p.Pro963Ser					COL11A1_ENST00000512756.1_Missense_Mutation_p.P847S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P924S|COL11A1_ENST00000370096.3_Missense_Mutation_p.P963S	p.P975S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	38	3240	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	963			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2923C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083608	0.55861	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96587	-3.15;-3.15;-3.15;-4.06	5.45	4.54	0.55810	.	0.058394	0.64402	D	0.000001	D	0.95947	0.8680	M	0.73962	2.25	0.58432	D	0.999999	P;P;P;P;P	0.51791	0.487;0.621;0.948;0.914;0.621	B;B;P;P;B	0.52514	0.248;0.431;0.701;0.505;0.431	D	0.95247	0.8356	10	0.49607	T	0.09	.	14.1634	0.65461	0.0723:0.0:0.9277:0.0	.	847;924;975;963;183	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	S	963;975;924;183;847	ENSP00000359114:P963S;ENSP00000351163:P975S;ENSP00000302551:P924S;ENSP00000426533:P847S	ENSP00000302551:P924S	P	-	1	0	COL11A1	103203660	1.000000	0.71417	0.986000	0.45419	0.842000	0.47809	9.734000	0.98822	1.305000	0.44909	0.557000	0.71058	CCT		0.393	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		43	94	0	0	0	1	0	43	94				
IQGAP1	8826	broad.mit.edu	37	15	91029360	91029360	+	Silent	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:91029360G>A	ENST00000268182.5	+	31	4144	c.4020G>A	c.(4018-4020)ctG>ctA	p.L1340L	IQGAP1_ENST00000560738.1_Silent_p.L768L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1340	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TCGAGTCCCTGATAGGTAGAG	0.483																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(4018-4020)ctG>ctA		IQ motif containing GTPase activating protein 1							58.0	57.0	57.0					15																	91029360		2198	4298	6496	SO:0001819	synonymous_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91029360G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4020G>A	15.37:g.91029360G>A						IQGAP1_ENST00000560738.1_Silent_p.L768L	p.L1340L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		31	4144	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1340			C2.		A7MBM3	Silent	SNP	ENST00000268182.5	37	c.4020G>A	CCDS10362.1																																																																																				0.483	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		11	36	0	0	0	1	0	11	36				
RGS3	5998	broad.mit.edu	37	9	116356598	116356598	+	Intron	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr9:116356598G>A	ENST00000374140.2	+	23	3289				RGS3_ENST00000462143.1_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462403.1_Silent_p.Q133Q|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000350696.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGAACCTGCAGAGGCGACACA	0.622																																						ENST00000462403.1																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(397-399)caG>caA		regulator of G-protein signaling 3							48.0	56.0	53.0					9																	116356598		2202	4300	6502	SO:0001627	intron_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116356598G>A	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-112G>A	9.37:g.116356598G>A						RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000342620.5_Intron	p.Q133Q	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN			1	833	+			1020					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	c.399G>A	CCDS43869.1																																																																																				0.622	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		21	54	0	0	0	1	0	21	54				
SYT4	6860	broad.mit.edu	37	18	40850345	40850345	+	Silent	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr18:40850345C>T	ENST00000255224.3	-	4	1607	c.1239G>A	c.(1237-1239)agG>agA	p.R413R	SYT4_ENST00000590752.1_Silent_p.R395R|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	413					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CAATTTGTCTCCTGGGGTAGT	0.483																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1237-1239)agG>agA		synaptotagmin IV							185.0	188.0	187.0					18																	40850345		2203	4300	6503	SO:0001819	synonymous_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40850345C>T	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1239G>A	18.37:g.40850345C>T						SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Silent_p.R395R	p.R413R	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			4	1607	-			413					B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	c.1239G>A	CCDS11922.1																																																																																				0.483	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		116	183	0	0	0	1	0	116	183				
CDKAL1	54901	broad.mit.edu	37	6	21000493	21000493	+	Silent	SNP	C	C	T	rs368097465		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr6:21000493C>T	ENST00000378610.1	+	9	955	c.945C>T	c.(943-945)taC>taT	p.Y315Y	CDKAL1_ENST00000274695.4_Silent_p.Y315Y|CDKAL1_ENST00000378624.4_Silent_p.Y245Y			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	315					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CCAGAGTCTACGCTTTTCTGC	0.393																																						ENST00000274695.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29						c.(943-945)taC>taT		CDK5 regulatory subunit associated protein 1-like 1		C		0,4406		0,0,2203	117.0	116.0	116.0		945	-8.1	0.6	6		116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDKAL1	NM_017774.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		315/580	21000493	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:21000493C>T	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.945C>T	6.37:g.21000493C>T						CDKAL1_ENST00000378610.1_Silent_p.Y315Y|CDKAL1_ENST00000378624.4_Silent_p.Y245Y	p.Y315Y	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		11	1112	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		315					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Silent	SNP	ENST00000378610.1	37	c.945C>T	CCDS4546.1																																																																																				0.393	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		54	136	0	0	0	1	0	54	136				
ACTN2	88	broad.mit.edu	37	1	236898965	236898965	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:236898965G>C	ENST00000366578.4	+	8	894	c.728G>C	c.(727-729)aGa>aCa	p.R243T	ACTN2_ENST00000542672.1_Intron|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	243	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCCGATGAAAGAGCCATCATG	0.532																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(727-729)aGa>aCa		actinin, alpha 2							191.0	142.0	159.0					1																	236898965		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236898965G>C	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.728G>C	1.37:g.236898965G>C	ENSP00000355537:p.Arg243Thr					ACTN2_ENST00000542672.1_Intron|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR	p.R243T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		8	894	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	243			Actin-binding.|CH 2.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.728G>C	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529226	0.85706	.	.	ENSG00000077522	ENST00000366578	T	0.61040	0.14	5.39	5.39	0.77823	Calponin homology domain (5);	0.220362	0.53938	D	0.000059	T	0.74913	0.3779	M	0.94142	3.5	0.80722	D	1	B	0.31413	0.322	B	0.38056	0.264	T	0.79683	-0.1701	10	0.87932	D	0	.	19.509	0.95133	0.0:0.0:1.0:0.0	.	243	P35609	ACTN2_HUMAN	T	243	ENSP00000355537:R243T	ENSP00000355537:R243T	R	+	2	0	ACTN2	234965588	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.947000	0.49058	2.682000	0.91365	0.655000	0.94253	AGA		0.532	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		19	54	0	0	0	1	0	19	54				
KNTC1	9735	broad.mit.edu	37	12	123022969	123022969	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr12:123022969C>T	ENST00000333479.7	+	4	511	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	KNTC1_ENST00000450485.2_Missense_Mutation_p.H112Y	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	112					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACATCTTATTCATGTAACATC	0.308																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(334-336)Cat>Tat		kinetochore associated 1							99.0	88.0	91.0					12																	123022969		1836	4099	5935	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123022969C>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.334C>T	12.37:g.123022969C>T	ENSP00000328236:p.His112Tyr					KNTC1_ENST00000450485.2_Missense_Mutation_p.H112Y	p.H112Y	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	4	511	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		112					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.334C>T	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400795	0.25291	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.16897	2.31;2.31	5.02	4.11	0.48088	.	0.131461	0.52532	N	0.000070	T	0.10078	0.0247	N	0.12182	0.205	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.003;0.002	T	0.12578	-1.0542	10	0.30854	T	0.27	-11.1689	12.4839	0.55861	0.0:0.9159:0.0:0.0841	.	112;112	E7ES84;P50748	.;KNTC1_HUMAN	Y	112	ENSP00000397992:H112Y;ENSP00000328236:H112Y	ENSP00000328236:H112Y	H	+	1	0	KNTC1	121588922	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.121000	0.41977	1.211000	0.43351	0.467000	0.42956	CAT		0.308	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			5	5	0	0	0	1	0	5	5				
MIOS	54468	broad.mit.edu	37	7	7635887	7635887	+	Splice_Site	SNP	G	G	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr7:7635887G>C	ENST00000340080.4	+	11	2617		c.e11-1		MIOS_ENST00000405785.1_Splice_Site	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)							lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGTTTTGTAGGTTTTTGTGA	0.353																																						ENST00000340080.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.e11-1		missing oocyte, meiosis regulator, homolog (Drosophila)							94.0	86.0	88.0					7																	7635887		1848	4090	5938	SO:0001630	splice_region_variant	54468							g.chr7:7635887G>C		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2197-1G>C	7.37:g.7635887G>C						MIOS_ENST00000405785.1_Splice_Site		NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			11	2617	+								B2RTV6|O75216|Q7L551|Q9H092	Splice_Site	SNP	ENST00000340080.4	37		CCDS43554.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070229	0.76301	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0144	0.92888	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MIOS	7602412	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	9.229000	0.95273	2.809000	0.96659	0.467000	0.42956	.		0.353	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005	Intron	45	55	0	0	0	1	0	45	55				
BTBD16	118663	broad.mit.edu	37	10	124045696	124045696	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:124045696G>C	ENST00000260723.4	+	5	569	c.318G>C	c.(316-318)aaG>aaC	p.K106N	BTBD16_ENST00000368994.2_Missense_Mutation_p.K107N	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	106										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCTTGGCCAAGCTCTACCTGA	0.587																																						ENST00000368994.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(319-321)aaG>aaC		BTB (POZ) domain containing 16							135.0	135.0	135.0					10																	124045696		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124045696G>C	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.318G>C	10.37:g.124045696G>C	ENSP00000260723:p.Lys106Asn					BTBD16_ENST00000260723.4_Missense_Mutation_p.K106N	p.K107N			Q32M84	BTBDG_HUMAN			5	572	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	106					A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.321G>C	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.658382	0.29425	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.22336	1.96;1.96	4.72	2.84	0.33178	BTB/POZ fold (2);	0.428680	0.22494	N	0.059340	T	0.26882	0.0658	M	0.73962	2.25	0.40267	D	0.978248	P;P	0.49090	0.919;0.919	P;P	0.48704	0.587;0.587	T	0.10989	-1.0606	10	0.19590	T	0.45	-13.5503	6.1266	0.20182	0.101:0.1906:0.7084:0.0	.	107;106	Q32M84-2;Q32M84	.;BTBDG_HUMAN	N	106;107	ENSP00000260723:K106N;ENSP00000357990:K107N	ENSP00000260723:K106N	K	+	3	2	BTBD16	124035686	0.996000	0.38824	0.967000	0.41034	0.047000	0.14425	0.600000	0.24104	0.584000	0.29591	0.561000	0.74099	AAG		0.587	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		5	219	0	0	0	1	0	5	219				
SBNO1	55206	broad.mit.edu	37	12	123794272	123794272	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr12:123794272C>A	ENST00000602398.1	-	26	3554	c.3427G>T	c.(3427-3429)Gat>Tat	p.D1143Y	SBNO1_ENST00000267176.4_Missense_Mutation_p.D1142Y|SBNO1_ENST00000420886.2_Missense_Mutation_p.D1143Y|SBNO1_ENST00000602750.1_Missense_Mutation_p.D1142Y			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1143					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATTCCCATATCATATCTTCCA	0.393																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(3427-3429)Gat>Tat		strawberry notch homolog 1 (Drosophila)							134.0	130.0	131.0					12																	123794272		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123794272C>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3427G>T	12.37:g.123794272C>A	ENSP00000473665:p.Asp1143Tyr					SBNO1_ENST00000602398.1_Missense_Mutation_p.D1143Y|SBNO1_ENST00000602750.1_Missense_Mutation_p.D1142Y|SBNO1_ENST00000267176.4_Missense_Mutation_p.D1142Y	p.D1143Y	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	25	3426	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1143					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.3427G>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378298	0.82682	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.45668	0.89;0.89	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.83549	0.0100	10	0.87932	D	0	-23.3039	18.4999	0.90877	0.0:1.0:0.0:0.0	.	1143;1142;254	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	Y	1143;1142	ENSP00000387361:D1143Y;ENSP00000267176:D1142Y	ENSP00000267176:D1142Y	D	-	1	0	SBNO1	122360225	1.000000	0.71417	0.995000	0.50966	0.906000	0.53458	7.708000	0.84633	2.361000	0.80049	0.467000	0.42956	GAT		0.393	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		52	119	1	0	7.05377e-20	1	7.95152e-20	52	119				
SLK	9748	broad.mit.edu	37	10	105765747	105765747	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:105765747A>T	ENST00000369755.3	+	11	3103	c.2558A>T	c.(2557-2559)cAg>cTg	p.Q853L	SLK_ENST00000335753.4_Missense_Mutation_p.Q853L	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	853					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGCAAACTACAGCAACAACGA	0.348																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(2557-2559)cAg>cTg		STE20-like kinase							90.0	95.0	94.0					10																	105765747		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105765747A>T		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2558A>T	10.37:g.105765747A>T	ENSP00000358770:p.Gln853Leu					SLK_ENST00000335753.4_Missense_Mutation_p.Q853L	p.Q853L	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	11	3103	+		Colorectal(252;0.178)	853					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.2558A>T	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.184712	0.38609	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.35236	1.32;1.32	5.45	5.45	0.79879	Protein kinase-like domain (1);	0.319150	0.35179	N	0.003400	T	0.36799	0.0980	M	0.72894	2.215	0.42021	D	0.990981	B;B	0.10296	0.002;0.003	B;B	0.16289	0.009;0.015	T	0.25882	-1.0119	10	0.40728	T	0.16	.	9.2293	0.37428	0.7246:0.0:0.0:0.2754	.	853;853	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	L	853	ENSP00000336824:Q853L;ENSP00000358770:Q853L	ENSP00000336824:Q853L	Q	+	2	0	SLK	105755737	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.594000	0.54008	2.060000	0.61445	0.533000	0.62120	CAG		0.348	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		43	90	0	0	0	1	0	43	90				
NCK1	4690	broad.mit.edu	37	3	136646895	136646895	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:136646895G>A	ENST00000481752.1	+	2	216	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	NCK1_ENST00000469404.1_5'Flank|NCK1_ENST00000288986.2_Missense_Mutation_p.E18K			P16333	NCK1_HUMAN	NCK adaptor protein 1	18	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGCCCAACAAGAACAAGAGTT	0.388																																						ENST00000481752.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(52-54)Gaa>Aaa		NCK adaptor protein 1							129.0	119.0	123.0					3																	136646895		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136646895G>A	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.52G>A	3.37:g.136646895G>A	ENSP00000417273:p.Glu18Lys					NCK1_ENST00000288986.2_Missense_Mutation_p.E18K	p.E18K			P16333	NCK1_HUMAN			2	216	+			18			SH3 1.		B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.52G>A	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534444	0.45073	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000476286;ENST00000488930	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	5.85	5.85	0.93711	Src homology-3 domain (4);	0.056973	0.64402	D	0.000002	T	0.35128	0.0921	L	0.61036	1.89	0.80722	D	1	B	0.26809	0.16	B	0.29440	0.102	T	0.06570	-1.0819	10	0.23302	T	0.38	-5.1407	17.6383	0.88129	0.0:0.0:1.0:0.0	.	18	P16333	NCK1_HUMAN	K	18	ENSP00000288986:E18K;ENSP00000417273:E18K;ENSP00000419302:E18K;ENSP00000419677:E18K;ENSP00000418513:E18K;ENSP00000417729:E18K	ENSP00000288986:E18K	E	+	1	0	NCK1	138129585	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	9.428000	0.97476	2.765000	0.95021	0.561000	0.74099	GAA		0.388	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		38	54	0	0	0	1	0	38	54				
SLC6A2	6530	broad.mit.edu	37	16	55728019	55728019	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:55728019G>T	ENST00000379906.2	+	6	1271	c.1016G>T	c.(1015-1017)tGt>tTt	p.C339F	SLC6A2_ENST00000414754.3_Missense_Mutation_p.C339F|SLC6A2_ENST00000566163.1_Missense_Mutation_p.C294F|SLC6A2_ENST00000568943.1_Missense_Mutation_p.C339F|SLC6A2_ENST00000561820.1_Missense_Mutation_p.C339F|SLC6A2_ENST00000219833.8_Missense_Mutation_p.C339F|SLC6A2_ENST00000567238.1_Missense_Mutation_p.C234F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	339					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GACAACAACTGTTACAGGTAA	0.443																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1015-1017)tGt>tTt		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						107.0	102.0	104.0					16																	55728019		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55728019G>T		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1016G>T	16.37:g.55728019G>T	ENSP00000369237:p.Cys339Phe					SLC6A2_ENST00000568943.1_Missense_Mutation_p.C339F|SLC6A2_ENST00000566163.1_Missense_Mutation_p.C294F|SLC6A2_ENST00000567238.1_Missense_Mutation_p.C234F|SLC6A2_ENST00000414754.3_Missense_Mutation_p.C339F|SLC6A2_ENST00000561820.1_Missense_Mutation_p.C339F|SLC6A2_ENST00000219833.8_Missense_Mutation_p.C339F	p.C339F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	6	1271	+			339					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1016G>T	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178535	0.38511	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.75821	-0.97;-0.97;-0.97	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.87378	0.6162	M	0.82716	2.605	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.999	D	0.89576	0.3817	10	0.87932	D	0	.	17.6378	0.88128	0.0:0.0:1.0:0.0	.	339;53;234;339	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	F	339;53;339;339	ENSP00000394956:C339F;ENSP00000369237:C339F;ENSP00000219833:C339F	ENSP00000219833:C339F	C	+	2	0	SLC6A2	54285520	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	9.501000	0.97979	2.267000	0.75376	0.655000	0.94253	TGT		0.443	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			38	57	1	0	9.88483e-10	1	1.04465e-09	38	57				
FLAD1	80308	broad.mit.edu	37	1	154965259	154965259	+	Missense_Mutation	SNP	G	G	A	rs539158486		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:154965259G>A	ENST00000292180.3	+	6	1947	c.1625G>A	c.(1624-1626)cGa>cAa	p.R542Q	FLAD1_ENST00000315144.10_Missense_Mutation_p.R445Q|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368432.1_Missense_Mutation_p.R445Q|LENEP_ENST00000392487.1_5'Flank|FLAD1_ENST00000368428.1_Missense_Mutation_p.R83Q	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	542	FAD synthase.				FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGTATGACCGAGGGTAAGGG	0.512																																						ENST00000292180.3																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22						c.(1624-1626)cGa>cAa		flavin adenine dinucleotide synthetase 1							133.0	128.0	130.0					1																	154965259		2203	4300	6503	SO:0001583	missense	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154965259G>A		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1625G>A	1.37:g.154965259G>A	ENSP00000292180:p.Arg542Gln					FLAD1_ENST00000368432.1_Missense_Mutation_p.R445Q|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000315144.10_Missense_Mutation_p.R445Q|FLAD1_ENST00000368428.1_Missense_Mutation_p.R83Q|FLAD1_ENST00000405236.2_Intron	p.R542Q	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		6	1947	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		542			FAD synthase.		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	c.1625G>A	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131098	0.37630	.	.	ENSG00000160688	ENST00000315144;ENST00000368432;ENST00000292180;ENST00000368428	.	.	.	4.64	0.661	0.17874	Phosphoadenosine phosphosulphate reductase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.209202	0.38959	N	0.001502	T	0.10981	0.0268	N	0.11789	0.175	0.80722	D	1	B	0.15719	0.014	B	0.09377	0.004	T	0.16571	-1.0398	9	0.10377	T	0.69	-0.3817	8.2332	0.31610	0.5848:0.0:0.4152:0.0	.	542	Q8NFF5	FAD1_HUMAN	Q	445;445;542;83	.	ENSP00000292180:R542Q	R	+	2	0	FLAD1	153231883	1.000000	0.71417	0.996000	0.52242	0.721000	0.41392	1.994000	0.40757	-0.019000	0.14055	0.436000	0.28706	CGA		0.512	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		60	142	0	0	0	1	0	60	142				
YY1AP1	55249	broad.mit.edu	37	1	155629687	155629687	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:155629687A>G	ENST00000295566.4	-	11	2175	c.2152T>C	c.(2152-2154)Ttc>Ctc	p.F718L	YY1AP1_ENST00000368339.5_Missense_Mutation_p.F810L|YY1AP1_ENST00000355499.4_Missense_Mutation_p.F672L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368340.5_Missense_Mutation_p.F790L|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.F672L|YY1AP1_ENST00000404643.1_Missense_Mutation_p.F652L|YY1AP1_ENST00000359205.5_Missense_Mutation_p.F661L|YY1AP1_ENST00000311573.5_Missense_Mutation_p.F641L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.F641L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.F518L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.F672L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.F661L	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	718					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)					ACTTTGGGGAAAACAGTAGCA	0.507																																						ENST00000368340.5																			0				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						c.(2368-2370)Ttc>Ctc		YY1 associated protein 1							121.0	114.0	116.0					1																	155629687		2203	4300	6503	SO:0001583	missense	55249							g.chr1:155629687A>G	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.2152T>C	1.37:g.155629687A>G	ENSP00000295566:p.Phe718Leu					MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000295566.4_Missense_Mutation_p.F718L|YY1AP1_ENST00000355499.4_Missense_Mutation_p.F672L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.F661L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.F641L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.F518L|YY1AP1_ENST00000359205.5_Missense_Mutation_p.F661L|YY1AP1_ENST00000368339.5_Missense_Mutation_p.F810L|YY1AP1_ENST00000404643.1_Missense_Mutation_p.F652L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.F672L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.F672L|YY1AP1_ENST00000311573.5_Missense_Mutation_p.F641L	p.F790L	NM_001198904.1	NP_001185833.1					10	2476	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.2368T>C	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	a	6.637	0.486023	0.12641	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.25085	1.89;1.89;1.92;1.89;1.89;1.84;1.88;1.89;1.92;1.9;1.82;1.92	2.57	1.38	0.22167	.	0.436116	0.23622	N	0.046239	T	0.15998	0.0385	L	0.54323	1.7	0.58432	D	0.999997	B;B;B;B;P	0.51147	0.001;0.011;0.452;0.012;0.942	B;B;P;B;P	0.52386	0.003;0.018;0.68;0.013;0.697	T	0.04976	-1.0914	10	0.28530	T	0.3	.	5.9581	0.19286	0.8665:0.0:0.1335:0.0	.	810;652;718;672;790	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	L	661;672;641;672;661;790;718;672;641;652;810;518	ENSP00000352134:F661L;ENSP00000347686:F672L;ENSP00000311138:F641L;ENSP00000316079:F672L;ENSP00000355298:F661L;ENSP00000357324:F790L;ENSP00000295566:F718L;ENSP00000357314:F672L;ENSP00000385791:F641L;ENSP00000385390:F652L;ENSP00000357323:F810L;ENSP00000437926:F518L	ENSP00000295566:F718L	F	-	1	0	YY1AP1	153896311	0.994000	0.37717	0.969000	0.41365	0.053000	0.15095	0.788000	0.26872	0.230000	0.21059	0.260000	0.18958	TTC		0.507	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		31	105	0	0	0	1	0	31	105				
LRCH3	84859	broad.mit.edu	37	3	197566209	197566209	+	Silent	SNP	A	A	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:197566209A>G	ENST00000425562.2	+	10	1269	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	LRCH3_ENST00000414675.2_Silent_p.P395P|LRCH3_ENST00000334859.4_Silent_p.P423P|LRCH3_ENST00000441090.2_Silent_p.P269P|LRCH3_ENST00000438796.2_Silent_p.P423P|LRCH3_ENST00000536618.1_Silent_p.P18P			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	423						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CAGTAAAGCCAGTAGCCATTA	0.328																																						ENST00000438796.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1267-1269)ccA>ccG		leucine-rich repeats and calponin homology (CH) domain containing 3							49.0	50.0	49.0					3																	197566209		2203	4298	6501	SO:0001819	synonymous_variant	84859					extracellular region		g.chr3:197566209A>G	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1269A>G	3.37:g.197566209A>G						LRCH3_ENST00000425562.2_Silent_p.P423P|LRCH3_ENST00000414675.2_Silent_p.P395P|LRCH3_ENST00000334859.4_Silent_p.P423P|LRCH3_ENST00000441090.2_Silent_p.P269P|LRCH3_ENST00000536618.1_Silent_p.P18P	p.P423P			Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	10	1313	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		423					B4E0T7|Q96FP9|Q9NT52	Silent	SNP	ENST00000425562.2	37	c.1269A>G																																																																																					0.328	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		30	51	0	0	0	1	0	30	51				
COL16A1	1307	broad.mit.edu	37	1	32131522	32131522	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:32131522C>A	ENST00000373672.3	-	54	3933	c.3417G>T	c.(3415-3417)gaG>gaT	p.E1139D	COL16A1_ENST00000271069.6_Missense_Mutation_p.E1139D	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1139	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGGTCCTCGCTCTCCTCTGG	0.612																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(3415-3417)gaG>gaT		collagen, type XVI, alpha 1							123.0	131.0	128.0					1																	32131522		2125	4240	6365	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32131522C>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3417G>T	1.37:g.32131522C>A	ENSP00000362776:p.Glu1139Asp					COL16A1_ENST00000271069.6_Missense_Mutation_p.E1139D	p.E1139D	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	54	3933	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1139			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.3417G>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764654	0.31228	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000440437	D;D;D	0.93712	-3.2;-3.2;-3.27	4.45	2.12	0.27331	.	0.130982	0.49916	D	0.000121	D	0.91257	0.7244	L	0.31207	0.915	0.32730	N	0.509087	D;D	0.61697	0.984;0.99	D;D	0.70935	0.935;0.971	D	0.87631	0.2516	10	0.17369	T	0.5	.	4.8008	0.13296	0.0:0.6738:0.0:0.3262	.	1139;1138	Q07092;Q07092-2	COGA1_HUMAN;.	D	1139;1139;20	ENSP00000362776:E1139D;ENSP00000271069:E1139D;ENSP00000390281:E20D	ENSP00000271069:E1139D	E	-	3	2	COL16A1	31904109	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.916000	0.28651	1.011000	0.39340	0.455000	0.32223	GAG		0.612	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		21	43	1	0	6.21321e-17	1	6.96179e-17	21	43				
GIMAP6	474344	broad.mit.edu	37	7	150325463	150325463	+	Missense_Mutation	SNP	C	C	T	rs372777404		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr7:150325463C>T	ENST00000328902.5	-	3	439	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	75	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCTTGGTCACGGGTCTGGTG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18337	0.001		0.0	False		,,,				2504	0.0					ENST00000328902.5																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(223-225)Gtg>Atg		GTPase, IMAP family member 6							165.0	169.0	168.0					7																	150325463		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150325463C>T	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.223G>A	7.37:g.150325463C>T	ENSP00000330374:p.Val75Met					GIMAP6_ENST00000493969.1_Intron	p.V75M	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	439	-			75					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.223G>A	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143893	0.57044	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.11712	2.75	4.29	4.29	0.51040	AIG1 (1);	0.300651	0.31859	N	0.006960	T	0.35970	0.0950	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.30765	-0.9967	10	0.87932	D	0	.	12.1006	0.53780	0.0:1.0:0.0:0.0	.	75	Q6P9H5	GIMA6_HUMAN	M	75;136	ENSP00000330374:V75M	ENSP00000330374:V75M	V	-	1	0	GIMAP6	149956396	0.018000	0.18449	0.907000	0.35723	0.008000	0.06430	0.732000	0.26072	2.243000	0.73865	0.561000	0.74099	GTG		0.577	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		112	139	0	0	0	1	0	112	139				
ITLN2	142683	broad.mit.edu	37	1	160920399	160920399	+	Missense_Mutation	SNP	G	G	A	rs368090480		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:160920399G>A	ENST00000368029.3	-	5	601	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	182	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTGTTGGTGCGGTACCTCAGC	0.577																																						ENST00000368029.3																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19						c.(544-546)Cgc>Tgc		intelectin 2		G	CYS/ARG	0,4406		0,0,2203	166.0	145.0	152.0		544	3.4	0.6	1		152	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITLN2	NM_080878.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	182/326	160920399	1,13005	2203	4300	6503	SO:0001583	missense	142683				signal transduction	extracellular region	receptor binding|sugar binding	g.chr1:160920399G>A	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.544C>T	1.37:g.160920399G>A	ENSP00000357008:p.Arg182Cys					ITLN2_ENST00000494442.1_5'UTR	p.R182C	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		5	601	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		182			Fibrinogen C-terminal.		Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	c.544C>T	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228215	0.22542	0.0	1.16E-4	ENSG00000158764	ENST00000368029	T	0.25912	1.77	4.47	3.38	0.38709	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.540328	0.14578	N	0.311078	T	0.10852	0.0265	L	0.59912	1.85	0.37694	D	0.923965	B;B	0.34103	0.437;0.437	B;B	0.26310	0.068;0.046	T	0.03910	-1.0993	10	0.52906	T	0.07	-1.2852	8.5164	0.33248	0.1513:0.0:0.8487:0.0	.	181;182	A6NI51;Q8WWU7	.;ITLN2_HUMAN	C	182	ENSP00000357008:R182C	ENSP00000357008:R182C	R	-	1	0	ITLN2	159187023	1.000000	0.71417	0.550000	0.28217	0.032000	0.12392	3.969000	0.56816	0.725000	0.32318	0.561000	0.74099	CGC		0.577	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878		41	128	0	0	0	1	0	41	128				
IPO4	79711	broad.mit.edu	37	14	24648888	24648888	+	IGR	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr14:24648888G>A	ENST00000354464.6	-	0	3646				REC8_ENST00000559939.1_3'UTR|REC8_ENST00000559919.1_Silent_p.V468V|REC8_ENST00000311457.3_Silent_p.V468V	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGCCTTTGGTGCTGCCCCCAG	0.632																																						ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(1402-1404)gtG>gtA		REC8 meiotic recombination protein							68.0	77.0	74.0					14																	24648888		2096	4208	6304	SO:0001628	intergenic_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24648888G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24648888G>A						REC8_ENST00000559919.1_Silent_p.V468V|REC8_ENST00000559939.1_3'UTR	p.V468V			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	18	2003	+			469			Glu-rich.		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	ENST00000354464.6	37	c.1404G>A	CCDS9616.1																																																																																				0.632	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		23	52	0	0	0	1	0	23	52				
VSIG2	23584	broad.mit.edu	37	11	124619698	124619698	+	Silent	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr11:124619698C>G	ENST00000326621.5	-	4	592	c.492G>C	c.(490-492)ctG>ctC	p.L164L	VSIG2_ENST00000403470.1_Silent_p.L164L	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	164	Ig-like C2-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		AGCTGCATCTCAGTGCAGTAG	0.473																																						ENST00000403470.1																			0				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(490-492)ctG>ctC		V-set and immunoglobulin domain containing 2							77.0	76.0	76.0					11																	124619698		2201	4299	6500	SO:0001819	synonymous_variant	23584					integral to plasma membrane|membrane fraction		g.chr11:124619698C>G	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.492G>C	11.37:g.124619698C>G						VSIG2_ENST00000326621.5_Silent_p.L164L	p.L164L			Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	4	547	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	164			Ig-like C2-type.		O95791|Q9NX42	Silent	SNP	ENST00000326621.5	37	c.492G>C	CCDS8452.1																																																																																				0.473	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		43	32	0	0	0	1	0	43	32				
SSH1	54434	broad.mit.edu	37	12	109182643	109182643	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr12:109182643C>G	ENST00000326495.5	-	15	2364	c.2271G>C	c.(2269-2271)ttG>ttC	p.L757F	SSH1_ENST00000360239.3_Missense_Mutation_p.L445F	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	757					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGAATTCTTCAAAAGGAGGG	0.527																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2269-2271)ttG>ttC		slingshot protein phosphatase 1							97.0	103.0	101.0					12																	109182643		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109182643C>G	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2271G>C	12.37:g.109182643C>G	ENSP00000315713:p.Leu757Phe					SSH1_ENST00000360239.3_Missense_Mutation_p.L445F	p.L757F	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			15	2364	-			757					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.2271G>C	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407737	0.42715	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.14144	2.65;2.53	5.2	3.32	0.38043	.	3.886580	0.00447	N	0.000089	T	0.23054	0.0557	L	0.56769	1.78	0.35328	D	0.785359	P;P	0.49090	0.779;0.919	B;P	0.48704	0.216;0.587	T	0.44314	-0.9336	10	0.10111	T	0.7	-0.5891	9.9985	0.41913	0.1384:0.7893:0.0:0.0723	.	757;445	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	F	445;757	ENSP00000353374:L445F;ENSP00000315713:L757F	ENSP00000315713:L757F	L	-	3	2	SSH1	107706772	0.915000	0.31059	0.559000	0.28332	0.898000	0.52572	1.360000	0.34125	0.649000	0.30751	0.655000	0.94253	TTG		0.527	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		61	116	0	0	0	1	0	61	116				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	58	0	0	0	1	0	5	58				
EPS8L3	79574	broad.mit.edu	37	1	110300656	110300656	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:110300656C>A	ENST00000361965.4	-	9	848	c.742G>T	c.(742-744)Gac>Tac	p.D248Y	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000361852.4_Missense_Mutation_p.D248Y|EPS8L3_ENST00000369805.3_Missense_Mutation_p.D249Y	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	248						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGCTCAATGTCCCTTAGGACA	0.562																																						ENST00000369805.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(745-747)Gac>Tac		EPS8-like 3							143.0	150.0	148.0					1																	110300656		2203	4300	6503	SO:0001583	missense	79574					cytoplasm	protein binding	g.chr1:110300656C>A	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.742G>T	1.37:g.110300656C>A	ENSP00000355255:p.Asp248Tyr					EPS8L3_ENST00000361852.4_Missense_Mutation_p.D248Y|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.D248Y	p.D249Y	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	9	974	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	248					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	c.745G>T	CCDS814.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441214	0.63067	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;D;D	0.82803	0.71;-1.63;-1.65	5.24	5.24	0.73138	.	0.044987	0.85682	D	0.000000	D	0.91304	0.7258	M	0.89353	3.025	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.995	D	0.92793	0.6250	10	0.87932	D	0	-26.617	15.7553	0.78018	0.0:1.0:0.0:0.0	.	248;248;248;249	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	Y	248;249;248	ENSP00000354551:D248Y;ENSP00000358820:D249Y;ENSP00000355255:D248Y	ENSP00000354551:D248Y	D	-	1	0	EPS8L3	110102179	0.991000	0.36638	0.874000	0.34290	0.761000	0.43186	3.048000	0.49862	2.431000	0.82371	0.655000	0.94253	GAC		0.562	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		36	68	1	0	2.05212e-20	1	2.3274e-20	36	68				
UNC5D	137970	broad.mit.edu	37	8	35402012	35402012	+	Intron	SNP	C	C	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:35402012C>A	ENST00000404895.2	+	2	431				UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000453357.2_Missense_Mutation_p.T16N|UNC5D_ENST00000287272.2_Intron	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.T16S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGTGCTGGGACTTCCGGGTTC	0.423																																						ENST00000453357.2																			1	Substitution - Missense(1)	p.T16S(1)	lung(1)	NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(46-48)aCt>aAt		unc-5 homolog D (C. elegans)							163.0	159.0	161.0					8																	35402012		2203	4300	6503	SO:0001627	intron_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35402012C>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.104-4798C>A	8.37:g.35402012C>A						UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000404895.2_Intron|UNC5D_ENST00000420357.1_Intron	p.T16N			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	1	103	+			0					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.47C>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	0.522	-0.861889	0.02610	.	.	ENSG00000156687	ENST00000453357	T	0.54675	0.56	1.42	-0.837	0.10766	.	1.924820	0.03223	N	0.177835	T	0.31670	0.0804	.	.	.	0.09310	N	1	B	0.20368	0.044	B	0.14023	0.01	T	0.07673	-1.0760	9	0.18276	T	0.48	.	4.1605	0.10282	0.0:0.5106:0.0:0.4894	.	16	Q6UXZ4-2	.	N	16	ENSP00000394303:T16N	ENSP00000394303:T16N	T	+	2	0	UNC5D	35521554	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.451000	0.02387	-0.297000	0.08934	0.555000	0.69702	ACT		0.423	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			27	40	1	0	9.39395e-14	1	1.01586e-13	27	40				
SART3	9733	broad.mit.edu	37	12	108942937	108942937	+	Silent	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr12:108942937G>A	ENST00000228284.3	-	2	600	c.366C>T	c.(364-366)ctC>ctT	p.L122L	SART3_ENST00000431469.2_Silent_p.L122L|SART3_ENST00000552221.1_5'UTR	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	122					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTTCCAGCCTGAGCAGTCTGA	0.453									Porokeratosis																													ENST00000228284.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(364-366)ctC>ctT		squamous cell carcinoma antigen recognized by T cells 3							116.0	95.0	102.0					12																	108942937		2203	4300	6503	SO:0001819	synonymous_variant	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108942937G>A	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.366C>T	12.37:g.108942937G>A						SART3_ENST00000431469.2_Silent_p.L122L|SART3_ENST00000552221.1_5'UTR	p.L122L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN			2	600	-			122					A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Silent	SNP	ENST00000228284.3	37	c.366C>T	CCDS9117.1																																																																																				0.453	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			23	51	0	0	0	1	0	23	51				
CSMD2	114784	broad.mit.edu	37	1	34035053	34035053	+	Silent	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:34035053G>A	ENST00000373381.4	-	52	8228	c.8052C>T	c.(8050-8052)tcC>tcT	p.S2684S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2686	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGTGTATCCGGAATTGCAGG	0.582																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(8050-8052)tcC>tcT		CUB and Sushi multiple domains 2							92.0	83.0	86.0					1																	34035053		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34035053G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8052C>T	1.37:g.34035053G>A							p.S2684S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			52	8228	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2686			Sushi 17.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.8052C>T																																																																																					0.582	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		19	49	0	0	0	1	0	19	49				
DNAH3	55567	broad.mit.edu	37	16	21136517	21136517	+	Silent	SNP	A	A	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:21136517A>C	ENST00000261383.3	-	9	1382	c.1383T>G	c.(1381-1383)gtT>gtG	p.V461V	DNAH3_ENST00000415178.1_Silent_p.V461V|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	461	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)		TGAAAAGGGAAACGAGGTCCT	0.448																																						ENST00000261383.3																			0				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						c.(1381-1383)gtT>gtG		dynein, axonemal, heavy chain 3							111.0	106.0	108.0					16																	21136517		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21136517A>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.1383T>G	16.37:g.21136517A>C						DNAH3_ENST00000415178.1_Silent_p.V461V|CTC-508F8.1_ENST00000575612.1_RNA	p.V461V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	9	1382	-			461			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.1383T>G	CCDS10594.1																																																																																				0.448	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		30	67	0	0	0	1	0	30	67				
NLRP14	338323	broad.mit.edu	37	11	7071047	7071047	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr11:7071047G>A	ENST00000299481.4	+	6	2615	c.2269G>A	c.(2269-2271)Gag>Aag	p.E757K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	757					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAAACACCCAGAGTGTAAACT	0.373																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(2269-2271)Gag>Aag		NLR family, pyrin domain containing 14							190.0	173.0	179.0					11																	7071047		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7071047G>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2269G>A	11.37:g.7071047G>A	ENSP00000299481:p.Glu757Lys						p.E757K	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	6	2615	+			757					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2269G>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	2.054	-0.417006	0.04766	.	.	ENSG00000158077	ENST00000299481	T	0.51817	0.69	4.68	-0.781	0.10965	.	1.507550	0.03954	N	0.288881	T	0.20941	0.0504	N	0.04297	-0.235	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.16453	-1.0402	10	0.06625	T	0.88	.	4.2278	0.10589	0.2886:0.3285:0.3829:0.0	.	757	Q86W24	NAL14_HUMAN	K	757	ENSP00000299481:E757K	ENSP00000299481:E757K	E	+	1	0	NLRP14	7027623	0.000000	0.05858	0.004000	0.12327	0.797000	0.45037	-0.531000	0.06171	-0.207000	0.10187	0.579000	0.79373	GAG		0.373	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		66	49	0	0	0	1	0	66	49				
TUBA4A	7277	broad.mit.edu	37	2	220115611	220115611	+	Silent	SNP	G	G	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr2:220115611G>T	ENST00000248437.4	-	4	983	c.810C>A	c.(808-810)gcC>gcA	p.A270A	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.A255A|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	270					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	GTGCATAGGTGGCCAGGGGGA	0.572																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(763-765)gcC>gcA		tubulin, alpha 4a							93.0	89.0	90.0					2																	220115611		2203	4300	6503	SO:0001819	synonymous_variant	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220115611G>T	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.810C>A	2.37:g.220115611G>T						TUBA4A_ENST00000248437.4_Silent_p.A270A|TUBA4A_ENST00000498660.1_5'UTR	p.A255A	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1320	-		Renal(207;0.0474)	270					A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	37	c.765C>A	CCDS2438.1																																																																																				0.572	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		13	49	1	0	7.03913e-09	1	7.39705e-09	13	49				
UGT2B15	7366	broad.mit.edu	37	4	69520826	69520826	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr4:69520826C>G	ENST00000338206.5	-	4	1089	c.1080G>C	c.(1078-1080)caG>caC	p.Q360H		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	360					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	GAAGGTCATTCTGGGGTAACC	0.358																																						ENST00000338206.5																			0											c.(1078-1080)caG>caC		UDP glucuronosyltransferase 2 family, polypeptide B15							156.0	158.0	157.0					4																	69520826		2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69520826C>G	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1080G>C	4.37:g.69520826C>G	ENSP00000341045:p.Gln360His						p.Q360H	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			4	1089	-			360					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.1080G>C	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	14.28	2.489266	0.44249	.	.	ENSG00000196620	ENST00000338206	T	0.73789	-0.78	2.57	1.7	0.24286	.	0.000000	0.64402	U	0.000002	D	0.88716	0.6512	H	0.98629	4.285	0.28276	N	0.924182	D	0.64830	0.994	D	0.64687	0.928	T	0.81525	-0.0893	10	0.87932	D	0	.	7.0388	0.25008	0.0:0.8511:0.0:0.1489	.	360	P54855	UDB15_HUMAN	H	360	ENSP00000341045:Q360H	ENSP00000341045:Q360H	Q	-	3	2	UGT2B15	69203421	0.977000	0.34250	1.000000	0.80357	0.790000	0.44656	0.142000	0.16096	0.397000	0.25310	0.455000	0.32223	CAG		0.358	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		97	213	0	0	0	1	0	97	213				
PPFIA3	8541	broad.mit.edu	37	19	49646098	49646098	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:49646098G>A	ENST00000334186.4	+	21	2931	c.2582G>A	c.(2581-2583)tGc>tAc	p.C861Y	PPFIA3_ENST00000602351.1_Missense_Mutation_p.C861Y	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	861	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTGGCCGCCTGCCGGGCCAAT	0.622																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(2581-2583)tGc>tAc		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							80.0	72.0	75.0					19																	49646098		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49646098G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2582G>A	19.37:g.49646098G>A	ENSP00000335614:p.Cys861Tyr					PPFIA3_ENST00000602351.1_Missense_Mutation_p.C861Y	p.C861Y	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	21	2931	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	861			SAM 1.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.2582G>A	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241359	0.95272	.	.	ENSG00000177380	ENST00000334186	T	0.48522	0.81	4.45	4.45	0.53987	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.113265	0.37809	N	0.001927	T	0.68504	0.3008	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.77004	0.989;0.938	T	0.74009	-0.3802	10	0.87932	D	0	-8.5689	16.2668	0.82588	0.0:0.0:1.0:0.0	.	861;861	O75145-2;O75145	.;LIPA3_HUMAN	Y	861	ENSP00000335614:C861Y	ENSP00000335614:C861Y	C	+	2	0	PPFIA3	54337910	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.800000	0.99124	2.198000	0.70561	0.449000	0.29647	TGC		0.622	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		29	65	0	0	0	1	0	29	65				
REG1B	5968	broad.mit.edu	37	2	79314704	79314704	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr2:79314704G>A	ENST00000305089.3	-	2	115	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	12					cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CATCAGGGAGGAGATCAGCAT	0.488																																						ENST00000305089.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						c.(34-36)tCc>tTc		regenerating islet-derived 1 beta							145.0	120.0	128.0					2																	79314704		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79314704G>A		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.35C>T	2.37:g.79314704G>A	ENSP00000303206:p.Ser12Phe						p.S12F	NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN			2	115	-			12						Missense_Mutation	SNP	ENST00000305089.3	37	c.35C>T	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	g	14.41	2.526618	0.44969	.	.	ENSG00000172023	ENST00000305089	T	0.04119	3.7	2.71	1.8	0.24995	.	1.543110	0.04556	N	0.390756	T	0.08802	0.0218	M	0.71036	2.16	0.09310	N	1	P;P	0.41978	0.767;0.767	B;B	0.44163	0.443;0.443	T	0.39354	-0.9618	10	0.09843	T	0.71	.	5.8691	0.18793	0.1547:0.0:0.8453:0.0	.	12;12	Q6ICS1;P48304	.;REG1B_HUMAN	F	12	ENSP00000303206:S12F	ENSP00000303206:S12F	S	-	2	0	REG1B	79168212	0.043000	0.20138	0.015000	0.15790	0.383000	0.30230	0.840000	0.27600	0.678000	0.31325	0.555000	0.69702	TCC		0.488	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		5	13	0	0	0	1	0	5	13				
TNRC6A	27327	broad.mit.edu	37	16	24834300	24834300	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:24834300G>C	ENST00000395799.3	+	24	5608	c.5479G>C	c.(5479-5481)Gaa>Caa	p.E1827Q	TNRC6A_ENST00000432286.2_Missense_Mutation_p.E305Q|TNRC6A_ENST00000315183.7_Missense_Mutation_p.E1778Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1827	RRM.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAGTTCAAAAGAAGAGGTAGT	0.542																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(5479-5481)Gaa>Caa		trinucleotide repeat containing 6A							141.0	122.0	128.0					16																	24834300		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24834300G>C	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5479G>C	16.37:g.24834300G>C	ENSP00000379144:p.Glu1827Gln					TNRC6A_ENST00000432286.2_Missense_Mutation_p.E305Q|TNRC6A_ENST00000315183.7_Missense_Mutation_p.E1778Q	p.E1827Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	24	5608	+			1827			RRM.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.5479G>C	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.27|19.27	3.794579|3.794579	0.70452|0.70452	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286|ENST00000450465	T;T;T|.	0.52526|.	0.66;0.66;0.66|.	5.0|5.0	5.0|5.0	0.66597|0.66597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);|.	0.056680|.	0.64402|.	D|.	0.000001|.	T|T	0.53351|0.53351	0.1791|0.1791	N|N	0.20357|0.20357	0.565|0.565	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.994;0.998|.	P;D|.	0.69307|.	0.87;0.963|.	T|T	0.50039|0.50039	-0.8874|-0.8874	10|5	0.23302|.	T|.	0.38|.	-7.1327|-7.1327	18.3036|18.3036	0.90172|0.90172	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1778;1827|.	Q8NDV7-6;Q8NDV7|.	.;TNR6A_HUMAN|.	Q|T	1778;1827;305|717	ENSP00000326900:E1778Q;ENSP00000379144:E1827Q;ENSP00000403015:E305Q|.	ENSP00000326900:E1778Q|.	E|R	+|+	1|2	0|0	TNRC6A|TNRC6A	24741801|24741801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.809000|7.809000	0.86057|0.86057	2.303000|2.303000	0.77524|0.77524	0.651000|0.651000	0.88453|0.88453	GAA|AGA		0.542	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		59	80	0	0	0	1	0	59	80				
FAM179A	165186	broad.mit.edu	37	2	29274948	29274948	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr2:29274948C>T	ENST00000379558.4	+	20	3400	c.3049C>T	c.(3049-3051)Cag>Tag	p.Q1017*	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Nonsense_Mutation_p.Q962*	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	1017										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATACCCTTTTCAGCTGGATTA	0.468																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(3049-3051)Cag>Tag		family with sequence similarity 179, member A							23.0	24.0	24.0					2																	29274948		1881	4103	5984	SO:0001587	stop_gained	165186						binding	g.chr2:29274948C>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.3049C>T	2.37:g.29274948C>T	ENSP00000368876:p.Gln1017*					FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Nonsense_Mutation_p.Q962*	p.Q1017*	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			20	3400	+			1017					Q6ZUF5	Nonsense_Mutation	SNP	ENST00000379558.4	37	c.3049C>T	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	40	8.263343	0.98732	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	.	.	.	5.68	5.68	0.88126	.	0.592407	0.14145	N	0.338408	.	.	.	.	.	.	0.23528	N	0.997485	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	16.5157	0.84300	0.0:1.0:0.0:0.0	.	.	.	.	X	1017;962	.	ENSP00000368876:Q1017X	Q	+	1	0	FAM179A	29128452	0.029000	0.19370	0.034000	0.17996	0.045000	0.14185	1.879000	0.39618	2.702000	0.92279	0.655000	0.94253	CAG		0.468	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		4	18	0	0	0	1	0	4	18				
RIPK2	8767	broad.mit.edu	37	8	90777641	90777641	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:90777641T>C	ENST00000220751.4	+	3	714	c.400T>C	c.(400-402)Tac>Cac	p.Y134H	RIPK2_ENST00000540020.1_5'UTR	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TGGTGTAAATTACCTGCACAA	0.328																																						ENST00000220751.4																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10						c.(400-402)Tac>Cac		receptor-interacting serine-threonine kinase 2							136.0	129.0	132.0					8																	90777641		2203	4300	6503	SO:0001583	missense	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90777641T>C	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.400T>C	8.37:g.90777641T>C	ENSP00000220751:p.Tyr134His					RIPK2_ENST00000540020.1_5'UTR	p.Y134H	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		3	714	+			134			Protein kinase.		B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	c.400T>C	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.702802	0.88924	.	.	ENSG00000104312	ENST00000220751	T	0.73681	-0.77	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38897	N	0.001532	D	0.83482	0.5264	L	0.60067	1.865	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	D	0.85310	0.1078	10	0.87932	D	0	-12.1456	15.8173	0.78612	0.0:0.0:0.0:1.0	.	134	O43353	RIPK2_HUMAN	H	134	ENSP00000220751:Y134H	ENSP00000220751:Y134H	Y	+	1	0	RIPK2	90846778	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.028000	0.88798	2.151000	0.67156	0.533000	0.62120	TAC		0.328	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			58	102	0	0	0	1	0	58	102				
FAS	355	broad.mit.edu	37	10	90774046	90774046	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:90774046C>A	ENST00000355740.2	+	9	1067	c.847C>A	c.(847-849)Caa>Aaa	p.Q283K	FAS_ENST00000352159.4_3'UTR|FAS_ENST00000357339.2_Missense_Mutation_p.Q262K|FAS_ENST00000355279.2_3'UTR|RP11-399O19.9_ENST00000562983.1_RNA	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TAATTGGCATCAACTTCATGG	0.368																																						ENST00000355740.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18						c.(847-849)Caa>Aaa		Fas cell surface death receptor							123.0	113.0	117.0					10																	90774046		2203	4300	6503	SO:0001583	missense	355				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90774046C>A	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355740.2:c.847C>A	10.37:g.90774046C>A	ENSP00000347979:p.Gln283Lys					FAS_ENST00000357339.2_Missense_Mutation_p.Q262K|FAS_ENST00000352159.4_3'UTR|FAS_ENST00000355279.2_3'UTR	p.Q283K	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	9	1067	+		Colorectal(252;0.0161)	283			Death.|Interaction with HIPK3 (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000355740.2	37	c.847C>A	CCDS7393.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376624	0.42105	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000357339	D;D	0.94184	-3.37;-3.37	4.65	4.65	0.58169	Death (3);DEATH-like (2);	0.153094	0.43416	D	0.000568	D	0.94807	0.8323	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.971;0.977	D	0.94853	0.8015	10	0.66056	D	0.02	-17.6505	13.767	0.63002	0.0:1.0:0.0:0.0	.	262;283	P25445-6;P25445	.;TNR6_HUMAN	K	310;283;262	ENSP00000347979:Q283K;ENSP00000349896:Q262K	ENSP00000347979:Q283K	Q	+	1	0	FAS	90764026	0.986000	0.35501	0.884000	0.34674	0.003000	0.03518	1.500000	0.35682	2.523000	0.85059	0.650000	0.86243	CAA		0.368	FAS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049274.3			22	80	1	0	2.27731e-05	1	2.31464e-05	22	80				
MTERF3	51001	broad.mit.edu	37	8	97269221	97269221	+	Silent	SNP	A	A	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:97269221A>G	ENST00000287025.3	-	3	554	c.456T>C	c.(454-456)caT>caC	p.H152H	MTERFD1_ENST00000523821.1_Silent_p.H152H|MTERFD1_ENST00000522822.1_Silent_p.H31H|MTERFD1_ENST00000524341.1_5'UTR	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		152					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					GAGTCTCAGAATGATCCACAT	0.378																																						ENST00000523821.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(454-456)caT>caC		MTERF domain containing 1							122.0	117.0	119.0					8																	97269221		2203	4300	6503	SO:0001819	synonymous_variant	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97269221A>G																												ENST00000287025.3:c.456T>C	8.37:g.97269221A>G						MTERFD1_ENST00000522822.1_Silent_p.H31H|MTERFD1_ENST00000287025.3_Silent_p.H152H|MTERFD1_ENST00000524341.1_5'UTR	p.H152H			Q96E29	MTER1_HUMAN			3	575	-	Breast(36;5.16e-05)		152					B3KMG6|G3V130|Q9Y301	Silent	SNP	ENST00000287025.3	37	c.456T>C	CCDS6270.1																																																																																				0.378	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			33	44	0	0	0	1	0	33	44				
HLA-C	3107	broad.mit.edu	37	6	31238976	31238976	+	Nonsense_Mutation	SNP	G	G	A	rs281860497		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr6:31238976G>A	ENST00000376228.5	-	3	507	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	HLA-C_ENST00000383329.3_Nonsense_Mutation_p.Q165*	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	165	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TGGGTGATCTGAGCCGCGGTG	0.677																																						ENST00000383329.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						c.(493-495)Cag>Tag		major histocompatibility complex, class I, C							29.0	21.0	24.0					6																	31238976		2133	4152	6285	SO:0001587	stop_gained	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31238976G>A	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.493C>T	6.37:g.31238976G>A	ENSP00000365402:p.Gln165*					HLA-C_ENST00000376228.5_Nonsense_Mutation_p.Q165*	p.Q165*			Q9TNN7	1C05_HUMAN			3	507	-			165			Alpha-2.		O02864|O02958|Q29643|Q9MY30	Nonsense_Mutation	SNP	ENST00000376228.5	37	c.493C>T	CCDS34393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.94|13.94	2.386072|2.386072	0.42308|0.42308	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307|ENST00000415537	.|.	.|.	.|.	2.81|2.81	-0.167|-0.167	0.13347|0.13347	.|.	1.006690|.	0.08020|.	U|.	0.991799|.	.|T	.|0.11239	.|0.0274	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.24728	.|-1.0152	.|3	0.87932|.	D|.	0|.	.|.	2.8318|2.8318	0.05502|0.05502	0.1143:0.1774:0.5266:0.1817|0.1143:0.1774:0.5266:0.1817	.|.	.|.	.|.	.|.	X|L	165;165;165;202|164	.|.	ENSP00000365402:Q165X|.	Q|S	-|-	1|2	0|0	HLA-C|HLA-C	31346955|31346955	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.100000|0.100000	0.15231|0.15231	-0.056000|-0.056000	0.13221|0.13221	-0.834000|-0.834000	0.03071|0.03071	CAG|TCA		0.677	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		10	38	0	0	0	1	0	10	38				
WBSCR16	81554	broad.mit.edu	37	7	74470029	74470029	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr7:74470029T>A	ENST00000329959.4	-	9	1265	c.1210A>T	c.(1210-1212)Agc>Tgc	p.S404C	WBSCR16_ENST00000503250.2_Missense_Mutation_p.S404C	NM_030798.3	NP_110425.2	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	404							poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GCAAAGTGGCTGAGTCCACAT	0.557																																						ENST00000503250.2																			0				kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1210-1212)Agc>Tgc		Williams-Beuren syndrome chromosome region 16							80.0	86.0	84.0					7																	74470029		2203	4300	6503	SO:0001583	missense	81554							g.chr7:74470029T>A	AF410455	CCDS5577.1, CCDS64683.1, CCDS64684.1	7q11.23	2008-08-14			ENSG00000174374	ENSG00000274523			14948	protein-coding gene	gene with protein product						12073013	Standard	NM_030798		Approved		uc003ubr.3	Q96I51	OTTHUMG00000130373	ENST00000329959.4:c.1210A>T	7.37:g.74470029T>A	ENSP00000333799:p.Ser404Cys					WBSCR16_ENST00000329959.4_Missense_Mutation_p.S404C	p.S404C			Q96I51	WBS16_HUMAN			9	1279	-			404					D3DXK0|F5GX55|F5H6C7|Q548B1|Q8IW88|Q8N572|Q9H0G7	Missense_Mutation	SNP	ENST00000329959.4	37	c.1210A>T	CCDS5577.1	.	.	.	.	.	.	.	.	.	.	T	18.51	3.639923	0.67244	.	.	ENSG00000174374	ENST00000503250;ENST00000329959	T;T	0.81247	-1.47;-1.47	4.96	4.96	0.65561	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.184523	0.64402	D	0.000018	D	0.88134	0.6355	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.65573	0.936;0.827	D	0.88214	0.2892	10	0.49607	T	0.09	-34.4853	8.2378	0.31636	0.0:0.0909:0.0:0.9091	.	404;404	F5H6C7;Q96I51	.;WBS16_HUMAN	C	404	ENSP00000437702:S404C;ENSP00000333799:S404C	ENSP00000333799:S404C	S	-	1	0	WBSCR16	74107965	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.241000	0.51376	1.836000	0.53414	0.379000	0.24179	AGC		0.557	WBSCR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252740.1	NM_030798		4	168	0	0	0	1	0	4	168				
GOLGA6B	55889	broad.mit.edu	37	15	72953659	72953659	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:72953659G>T	ENST00000421285.3	+	8	619	c.619G>T	c.(619-621)Gag>Tag	p.E207*		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	207						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GACCATAAAGGAGCGGGCGCT	0.597																																						ENST00000421285.3																			0				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(619-621)Gag>Tag		golgin A6 family, member B							55.0	72.0	66.0					15																	72953659		1464	2628	4092	SO:0001587	stop_gained	55889							g.chr15:72953659G>T		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.619G>T	15.37:g.72953659G>T	ENSP00000408132:p.Glu207*						p.E207*	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			8	619	+			207					A8MYY7	Nonsense_Mutation	SNP	ENST00000421285.3	37	c.619G>T	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	11.60	1.685707	0.29962	.	.	ENSG00000215186	ENST00000421285	.	.	.	0.39	0.39	0.16275	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.668	0.23052	2.0E-4:0.0:0.9998:0.0	.	.	.	.	X	207	.	ENSP00000408132:E207X	E	+	1	0	GOLGA6B	70740713	1.000000	0.71417	0.032000	0.17829	0.018000	0.09664	2.967000	0.49216	0.472000	0.27344	0.134000	0.15878	GAG		0.597	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		22	190	1	0	8.24728e-16	1	9.07689e-16	22	190				
GOLGA6A	342096	broad.mit.edu	37	15	74368272	74368272	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:74368272C>A	ENST00000290438.3	-	8	659	c.619G>T	c.(619-621)Gag>Tag	p.E207*		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	207						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						AGCGCCCGCTCCTTTATGGTC	0.592																																						ENST00000290438.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						c.(619-621)Gag>Tag		golgin A6 family, member A							69.0	83.0	78.0					15																	74368272		2154	4269	6423	SO:0001587	stop_gained	342096							g.chr15:74368272C>A	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.619G>T	15.37:g.74368272C>A	ENSP00000290438:p.Glu207*						p.E207*	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN			8	659	-			207					A8K959|Q9NYA7	Nonsense_Mutation	SNP	ENST00000290438.3	37	c.619G>T	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008348	0.54361	.	.	ENSG00000159289	ENST00000290438	.	.	.	1.51	1.51	0.23008	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.1298	0.36839	0.0:1.0:0.0:0.0	.	.	.	.	X	207	.	ENSP00000290438:E207X	E	-	1	0	GOLGA6A	72155325	0.027000	0.19231	0.078000	0.20375	0.046000	0.14306	0.731000	0.26058	1.187000	0.43000	0.121000	0.15741	GAG		0.592	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		6	257	1	0	0.248553	1	0.248553	6	257				
LEKR1	389170	broad.mit.edu	37	3	156763348	156763348	+	Missense_Mutation	SNP	G	G	C	rs200609443		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:156763348G>C	ENST00000470811.1	+	14	2311	c.976G>C	c.(976-978)Gga>Cga	p.G326R	LEKR1_ENST00000356539.4_Missense_Mutation_p.G630R			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	326										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTCTGAAAAAGGAATCCAAAT	0.532																																						ENST00000470811.1																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11						c.(976-978)Gga>Cga		leucine, glutamate and lysine rich 1							83.0	90.0	88.0					3																	156763348		2203	4300	6503	SO:0001583	missense	389170							g.chr3:156763348G>C	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.976G>C	3.37:g.156763348G>C	ENSP00000418214:p.Gly326Arg					LEKR1_ENST00000356539.4_Missense_Mutation_p.G630R	p.G326R			D3DNK7	D3DNK7_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		14	2311	+			0						Missense_Mutation	SNP	ENST00000470811.1	37	c.976G>C		.	.	.	.	.	.	.	.	.	.	G	13.65	2.300690	0.40694	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.55234	0.57;0.53	4.94	2.16	0.27623	.	0.398080	0.21537	N	0.072951	T	0.41419	0.1158	L	0.33485	1.01	0.09310	N	1	B	0.24533	0.105	B	0.32583	0.148	T	0.31392	-0.9945	10	0.29301	T	0.29	-4.8847	9.7416	0.40422	0.2329:0.0:0.7671:0.0	.	326	Q6ZMV7	LEKR1_HUMAN	R	326;630	ENSP00000418214:G326R;ENSP00000348936:G630R	ENSP00000348936:G630R	G	+	1	0	LEKR1	158246042	0.318000	0.24598	0.000000	0.03702	0.265000	0.26407	1.128000	0.31369	0.142000	0.18901	0.655000	0.94253	GGA		0.532	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		37	61	0	0	0	1	0	37	61				
MAGEA12	4111	broad.mit.edu	37	X	151900173	151900173	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chrX:151900173C>T	ENST00000357916.4	-	2	783	c.628G>A	c.(628-630)Gca>Aca	p.A210T	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393900.3_Missense_Mutation_p.A210T|MAGEA12_ENST00000393869.3_Missense_Mutation_p.A210T	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	210	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCTTTTGCGATTATGGCC	0.577																																						ENST00000393900.3																			0				breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(628-630)Gca>Aca		melanoma antigen family A, 12							153.0	149.0	151.0					X																	151900173		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900173C>T		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.628G>A	X.37:g.151900173C>T	ENSP00000350592:p.Ala210Thr					CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.A210T|MAGEA12_ENST00000393869.3_Missense_Mutation_p.A210T	p.A210T	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN			3	981	-	Acute lymphoblastic leukemia(192;6.56e-05)		210			MAGE.		Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.628G>A	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082019	0.36758	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.04758	3.56;3.56;3.56	0.809	-1.62	0.08372	.	0.427429	0.29126	N	0.013078	T	0.08980	0.0222	M	0.72118	2.19	0.09310	N	1	D	0.65815	0.995	P	0.52031	0.688	T	0.10543	-1.0625	9	0.87932	D	0	.	.	.	.	.	210	P43365	MAGAC_HUMAN	T	210	ENSP00000350592:A210T;ENSP00000377447:A210T;ENSP00000377478:A210T	ENSP00000350592:A210T	A	-	1	0	MAGEA12	151650829	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	0.393000	0.20817	-0.617000	0.05664	0.181000	0.17075	GCA		0.577	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		7	362	0	0	0	1	0	7	362				
SDK2	54549	broad.mit.edu	37	17	71426711	71426711	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr17:71426711T>C	ENST00000392650.3	-	12	1522	c.1522A>G	c.(1522-1524)Atc>Gtc	p.I508V	SDK2_ENST00000388726.3_Missense_Mutation_p.I508V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	508	Ig-like C2-type 6.				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						GTGCCCTTGATGACACTCTGA	0.617																																						ENST00000392650.3																			0				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						c.(1522-1524)Atc>Gtc		sidekick cell adhesion molecule 2							51.0	43.0	46.0					17																	71426711		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71426711T>C	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.1522A>G	17.37:g.71426711T>C	ENSP00000376421:p.Ile508Val					SDK2_ENST00000388726.3_Missense_Mutation_p.I508V	p.I508V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			12	1522	-			508			Ig-like C2-type 6.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.1522A>G	CCDS45769.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.05|17.05	3.290140|3.290140	0.59976|0.59976	.|.	.|.	ENSG00000069188|ENSG00000069188	ENST00000416616|ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	.|T;T	.|0.66638	.|-0.22;-0.22	4.49|4.49	4.49|4.49	0.54785|0.54785	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63710|0.63710	0.2534|0.2534	L|L	0.47016|0.47016	1.485|1.485	0.50039|0.50039	D|D	0.999848|0.999848	.|B;B	.|0.33299	.|0.407;0.021	.|B;B	.|0.39379	.|0.298;0.11	T|T	0.64330|0.64330	-0.6433|-0.6433	5|10	.|0.40728	.|T	.|0.16	.|.	13.7286|13.7286	0.62774|0.62774	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|508;508	.|Q58EX2-2;Q58EX2	.|.;SDK2_HUMAN	R|V	412|132;508;508;508	.|ENSP00000376421:I508V;ENSP00000373378:I508V	.|ENSP00000324967:I508V	H|I	-|-	2|1	0|0	SDK2|SDK2	68938306|68938306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.404000|7.404000	0.79996|0.79996	1.790000|1.790000	0.52503|0.52503	0.460000|0.460000	0.39030|0.39030	CAT|ATC		0.617	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		19	5	0	0	0	1	0	19	5				
RASGRF1	5923	broad.mit.edu	37	15	79264256	79264256	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:79264256C>A	ENST00000419573.3	-	27	3955	c.3681G>T	c.(3679-3681)gaG>gaT	p.E1227D	RASGRF1_ENST00000394745.3_Missense_Mutation_p.E443D|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E1211D	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1227	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACTGGCGAATCTCTCGGATAA	0.478																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3679-3681)gaG>gaT		Ras protein-specific guanine nucleotide-releasing factor 1							288.0	241.0	257.0					15																	79264256		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79264256C>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3681G>T	15.37:g.79264256C>A	ENSP00000405963:p.Glu1227Asp					RASGRF1_ENST00000558480.2_Missense_Mutation_p.E1211D|RASGRF1_ENST00000394745.3_Missense_Mutation_p.E443D	p.E1227D	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			27	3955	-			1229			Ras-GEF.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.3681G>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579464	0.65878	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.32988	1.43;1.43	4.23	4.23	0.50019	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.38480	0.1042	L	0.52905	1.665	0.54753	D	0.999988	B;P	0.36944	0.004;0.574	B;P	0.45428	0.067;0.48	T	0.26849	-1.0091	10	0.46703	T	0.11	.	14.1673	0.65486	0.0:1.0:0.0:0.0	.	1229;1211	Q13972;F8VPA5	RGRF1_HUMAN;.	D	1227;1211;443	ENSP00000405963:E1227D;ENSP00000378228:E443D	ENSP00000378224:E1211D	E	-	3	2	RASGRF1	77051311	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	1.352000	0.34033	2.169000	0.68431	0.561000	0.74099	GAG		0.478	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		51	173	1	0	1.17673e-23	1	1.36795e-23	51	173				
TMEM161A	54929	broad.mit.edu	37	19	19243552	19243552	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:19243552C>G	ENST00000162044.9	-	4	264	c.200G>C	c.(199-201)gGc>gCc	p.G67A	TMEM161A_ENST00000592147.1_5'UTR|TMEM161A_ENST00000450333.2_Missense_Mutation_p.G67A|TMEM161A_ENST00000587583.2_Missense_Mutation_p.G67A	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	67					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CTCACTAAGGCCATTGGCCCA	0.632																																						ENST00000450333.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(199-201)gGc>gCc		transmembrane protein 161A							73.0	49.0	57.0					19																	19243552		2203	4300	6503	SO:0001583	missense	54929				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		g.chr19:19243552C>G	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.200G>C	19.37:g.19243552C>G	ENSP00000162044:p.Gly67Ala					TMEM161A_ENST00000592369.1_5'UTR|TMEM161A_ENST00000162044.9_Missense_Mutation_p.G67A|TMEM161A_ENST00000587583.2_Missense_Mutation_p.G67A	p.G67A	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		4	237	-			67					B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	ENST00000162044.9	37	c.200G>C	CCDS12393.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747690	0.69533	.	.	ENSG00000064545	ENST00000450333;ENST00000162044	.	.	.	3.86	3.86	0.44501	.	0.285572	0.38381	N	0.001716	T	0.66015	0.2747	M	0.69823	2.125	0.80722	D	1	P;D;D	0.56521	0.946;0.957;0.976	P;P;P	0.52881	0.488;0.622;0.712	T	0.69491	-0.5131	9	0.45353	T	0.12	.	13.6353	0.62219	0.0:1.0:0.0:0.0	.	67;67;67	G5E9M6;B3KUE0;Q9NX61	.;.;T161A_HUMAN	A	67	.	ENSP00000162044:G67A	G	-	2	0	TMEM161A	19104552	0.982000	0.34865	0.814000	0.32528	0.671000	0.39405	3.843000	0.55865	1.868000	0.54150	0.462000	0.41574	GGC		0.632	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814		14	24	0	0	0	1	0	14	24				
ANAPC16	119504	broad.mit.edu	37	10	73983758	73983758	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:73983758C>T	ENST00000299381.4	+	2	204	c.86C>T	c.(85-87)gCc>gTc	p.A29V	ANAPC16_ENST00000470481.2_3'UTR	NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3	NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1	Q96DE5	APC16_HUMAN	anaphase promoting complex subunit 16	29					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	anaphase-promoting complex (GO:0005680)|cytoplasm (GO:0005737)				large_intestine(1)|ovary(1)	2						TCAGACCTTGCCCCACCACGG	0.493																																						ENST00000299381.4																			0				large_intestine(1)|ovary(1)	2						c.(85-87)gCc>gTc		anaphase promoting complex subunit 16							168.0	151.0	157.0					10																	73983758		2203	4300	6503	SO:0001583	missense	119504				cell division|mitosis|protein ubiquitination	anaphase-promoting complex|cytoplasm		g.chr10:73983758C>T	BC009530	CCDS7314.1, CCDS73147.1	10q22.2	2011-08-12	2010-04-06	2010-04-06	ENSG00000166295	ENSG00000166295		"""Anaphase promoting complex subunits"""	26976	protein-coding gene	gene with protein product	"""centromere protein 27"""	613427	"""chromosome 10 open reading frame 104"""	C10orf104		14702039, 20360068	Standard	NM_001242546		Approved	bA570G20.3, FLJ33728, APC16, CENP-27	uc021psp.1	Q96DE5	OTTHUMG00000018433	ENST00000299381.4:c.86C>T	10.37:g.73983758C>T	ENSP00000299381:p.Ala29Val					ANAPC16_ENST00000470481.2_3'UTR	p.A29V	NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3	NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1	Q96DE5	APC16_HUMAN			2	204	+			29						Missense_Mutation	SNP	ENST00000299381.4	37	c.86C>T	CCDS7314.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880719	0.72294	.	.	ENSG00000166295	ENST00000299381	.	.	.	5.91	5.91	0.95273	.	0.093177	0.85682	D	0.000000	T	0.38639	0.1048	N	0.08118	0	0.51233	D	0.999917	B	0.11235	0.004	B	0.06405	0.002	T	0.33317	-0.9873	9	0.09084	T	0.74	.	19.8914	0.96931	0.0:1.0:0.0:0.0	.	29	Q96DE5	APC16_HUMAN	V	29	.	ENSP00000299381:A29V	A	+	2	0	ANAPC16	73653764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.105000	0.64591	2.813000	0.96785	0.655000	0.94253	GCC		0.493	ANAPC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048565.2	NM_173473		4	117	0	0	0	1	0	4	117				
OR6C6	283365	broad.mit.edu	37	12	55688689	55688689	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr12:55688689A>T	ENST00000358433.2	-	1	327	c.328T>A	c.(328-330)Ttt>Att	p.F110I		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGGAGGTAAAACTCAGTAACT	0.393																																						ENST00000358433.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(328-330)Ttt>Att		olfactory receptor, family 6, subfamily C, member 6							53.0	53.0	53.0					12																	55688689		2203	4300	6503	SO:0001583	missense	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688689A>T		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.328T>A	12.37:g.55688689A>T	ENSP00000351211:p.Phe110Ile						p.F110I	NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN			1	327	-			110						Missense_Mutation	SNP	ENST00000358433.2	37	c.328T>A	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	16.57	3.160902	0.57368	.	.	ENSG00000188324	ENST00000358433	T	0.01323	5.01	4.24	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000095	T	0.02418	0.0074	L	0.38175	1.15	0.19775	N	0.999952	P	0.52316	0.952	P	0.52598	0.703	T	0.42258	-0.9462	10	0.87932	D	0	.	6.9316	0.24444	0.6978:0.1541:0.0:0.1481	.	110	A6NF89	OR6C6_HUMAN	I	110	ENSP00000351211:F110I	ENSP00000351211:F110I	F	-	1	0	OR6C6	53974956	0.000000	0.05858	0.935000	0.37517	0.843000	0.47879	-0.670000	0.05256	0.753000	0.32945	0.473000	0.43528	TTT		0.393	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			36	54	0	0	0	1	0	36	54				
GABARAPL2	11345	broad.mit.edu	37	16	75601963	75601963	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:75601963A>C	ENST00000037243.2	+	3	255	c.119A>C	c.(118-120)cAg>cCg	p.Q40P	GABARAPL2_ENST00000563744.1_Intron|RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000568455.1_5'UTR|GABARAPL2_ENST00000565057.1_Missense_Mutation_p.Q40P	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2	40	Interaction with GABRG2. {ECO:0000255}.				autophagy (GO:0006914)|intra-Golgi vesicle-mediated transport (GO:0006891)|negative regulation of proteasomal protein catabolic process (GO:1901799)|positive regulation of ATPase activity (GO:0032781)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular (GO:0005622)	ATPase binding (GO:0051117)|beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)|microtubule binding (GO:0008017)|SNARE binding (GO:0000149)			lung(1)|ovary(1)	2						TCAGGCTCTCAGATTGTTGAC	0.478																																						ENST00000037243.2																			0				lung(1)|ovary(1)	2						c.(118-120)cAg>cCg		GABA(A) receptor-associated protein-like 2							163.0	142.0	149.0					16																	75601963		2198	4300	6498	SO:0001583	missense	11345				autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport	autophagic vacuole membrane|cytosol|Golgi membrane|membrane fraction	ATPase binding|beta-tubulin binding|GABA receptor binding|microtubule binding|SNARE binding	g.chr16:75601963A>C	AF087848	CCDS10921.1	16q22.1	2014-02-12			ENSG00000034713	ENSG00000034713			13291	protein-coding gene	gene with protein product		607452				11414770	Standard	NM_007285		Approved	GEF2, ATG8, GATE16, GATE-16, ATG8C	uc002fen.3	P60520	OTTHUMG00000137613	ENST00000037243.2:c.119A>C	16.37:g.75601963A>C	ENSP00000037243:p.Gln40Pro					GABARAPL2_ENST00000565057.1_Missense_Mutation_p.Q40P|RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000568455.1_5'UTR|GABARAPL2_ENST00000563744.1_Intron	p.Q40P	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN			3	255	+			40			Interaction with GABRG2 (Potential).		O08765|Q6FG91|Q9DCP8|Q9UQF7	Missense_Mutation	SNP	ENST00000037243.2	37	c.119A>C	CCDS10921.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.599222	0.66332	.	.	ENSG00000034713	ENST00000037243	T	0.42900	0.96	5.62	5.62	0.85841	.	0.210852	0.52532	D	0.000080	T	0.37972	0.1023	L	0.45137	1.4	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.14420	-1.0473	10	0.51188	T	0.08	-2.0368	14.667	0.68915	1.0:0.0:0.0:0.0	.	40	P60520	GBRL2_HUMAN	P	40	ENSP00000037243:Q40P	ENSP00000037243:Q40P	Q	+	2	0	GABARAPL2	74159464	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.297000	0.96120	2.159000	0.67721	0.533000	0.62120	CAG		0.478	GABARAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269029.1	NM_007285		78	104	0	0	0	1	0	78	104				
SETD2	29072	broad.mit.edu	37	3	47163179	47163179	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:47163179C>G	ENST00000409792.3	-	3	2989	c.2947G>C	c.(2947-2949)Gaa>Caa	p.E983Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	983					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.E983*(1)|p.E480*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTCCTCTTTCATCTAAAGAG	0.393			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Nonsense(2)	p.E983*(1)|p.E480*(1)	ovary(2)	breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(2947-2949)Gaa>Caa		SET domain containing 2							88.0	87.0	87.0					3																	47163179		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47163179C>G	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2947G>C	3.37:g.47163179C>G	ENSP00000386759:p.Glu983Gln						p.E983Q	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	2989	-		Acute lymphoblastic leukemia(5;0.0169)	983					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.2947G>C	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	0.501	-0.870900	0.02570	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89746	-2.56;1.3	5.16	4.2	0.49525	.	0.353337	0.24139	N	0.041181	T	0.76543	0.4002	N	0.12182	0.205	0.09310	N	0.999997	B;B	0.33694	0.421;0.421	B;B	0.25140	0.058;0.04	T	0.72218	-0.4357	10	0.72032	D	0.01	.	11.0153	0.47685	0.0:0.8558:0.0:0.1442	.	983;983	F2Z317;Q9BYW2	.;SETD2_HUMAN	Q	983;983;983;939	ENSP00000386759:E983Q;ENSP00000416401:E939Q	ENSP00000386759:E983Q	E	-	1	0	SETD2	47138183	0.213000	0.23551	1.000000	0.80357	0.124000	0.20399	1.658000	0.37376	2.667000	0.90743	0.650000	0.86243	GAA		0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		5	116	0	0	0	1	0	5	116				
DNAJC17	55192	broad.mit.edu	37	15	41068427	41068427	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:41068427G>C	ENST00000220496.4	-	6	475	c.445C>G	c.(445-447)Cag>Gag	p.Q149E		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	149					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGGCGTATCTGCTCCCGGATG	0.607																																						ENST00000220496.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6						c.(445-447)Cag>Gag		DnaJ (Hsp40) homolog, subfamily C, member 17							94.0	77.0	83.0					15																	41068427		2203	4300	6503	SO:0001583	missense	55192				protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding	g.chr15:41068427G>C	AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"""Heat shock proteins / DNAJ (HSP40)"", ""RNA binding motif (RRM) containing"""	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.445C>G	15.37:g.41068427G>C	ENSP00000220496:p.Gln149Glu						p.Q149E	NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	6	475	-		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	149						Missense_Mutation	SNP	ENST00000220496.4	37	c.445C>G	CCDS10065.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626429	0.66901	.	.	ENSG00000104129	ENST00000220496	T	0.17213	2.29	4.41	4.41	0.53225	.	0.059223	0.64402	D	0.000001	T	0.13243	0.0321	L	0.28344	0.845	0.58432	D	0.999999	P	0.35348	0.496	B	0.34242	0.178	T	0.13308	-1.0514	10	0.21540	T	0.41	.	16.8122	0.85724	0.0:0.0:1.0:0.0	.	149	Q9NVM6	DJC17_HUMAN	E	149	ENSP00000220496:Q149E	ENSP00000220496:Q149E	Q	-	1	0	DNAJC17	38855719	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.083000	0.76859	2.300000	0.77407	0.561000	0.74099	CAG		0.607	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252356.2	NM_018163		13	36	0	0	0	1	0	13	36				
TMEM175	84286	broad.mit.edu	37	4	941650	941650	+	Silent	SNP	C	C	T	rs34645349	byFrequency	TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr4:941650C>T	ENST00000264771.4	+	2	308	c.123C>T	c.(121-123)gaC>gaT	p.D41D	TMEM175_ENST00000508204.1_Intron|TMEM175_ENST00000515740.1_Intron	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	41						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTTCAGTGACGCCCTGCTGT	0.672													c|||	4	0.000798722	0.0	0.0	5008	,	,		16774	0.0		0.004	False		,,,				2504	0.0					ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(121-123)gaC>gaT		transmembrane protein 175		T		0,4406		0,0,2203	61.0	60.0	60.0		123	-8.5	0.0	4	dbSNP_126	60	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous	TMEM175	NM_032326.2		0,10,6493	TT,TC,CC		0.1163,0.0,0.0769		41/505	941650	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	84286					integral to membrane		g.chr4:941650C>T	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.123C>T	4.37:g.941650C>T						TMEM175_ENST00000508204.1_Intron|TMEM175_ENST00000515740.1_Intron	p.D41D	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		2	308	+			41					D3DVN4|Q8ND13	Silent	SNP	ENST00000264771.4	37	c.123C>T	CCDS3341.1																																																																																				0.672	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		48	23	0	0	0	1	0	48	23				
CACNA1D	776	broad.mit.edu	37	3	53756362	53756362	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:53756362C>A	ENST00000350061.5	+	12	2038	c.1527C>A	c.(1525-1527)aaC>aaA	p.N509K	CACNA1D_ENST00000422281.2_Missense_Mutation_p.N509K|CACNA1D_ENST00000288139.4_Missense_Mutation_p.N529K	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	509					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTCGCTGGAACCGATTCAATC	0.448																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(1585-1587)aaC>aaA		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						166.0	139.0	148.0					3																	53756362		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53756362C>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1527C>A	3.37:g.53756362C>A	ENSP00000288133:p.Asn509Lys					CACNA1D_ENST00000422281.2_Missense_Mutation_p.N509K|CACNA1D_ENST00000350061.5_Missense_Mutation_p.N509K	p.N529K	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	13	1705	+			509					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1587C>A	CCDS46848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.153410|4.153410	0.78114|0.78114	.|.	.|.	ENSG00000157388|ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478|ENST00000481085	D;D;D;D|.	0.93426|.	-3.22;-3.22;-3.22;-3.22|.	5.88|5.88	3.12|3.12	0.35913|0.35913	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73063|0.73063	0.3539|0.3539	M|M	0.81942|0.81942	2.565|2.565	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;0.959;1.0|.	D;D;P;D|.	0.91635|.	0.999;0.971;0.628;0.997|.	T|T	0.71826|0.71826	-0.4475|-0.4475	10|5	0.87932|.	D|.	0|.	.|.	11.5768|11.5768	0.50866|0.50866	0.0:0.7516:0.0:0.2484|0.0:0.7516:0.0:0.2484	.|.	509;202;509;529|.	B0FYA3;Q59GD8;Q01668;Q01668-2|.	.;.;CAC1D_HUMAN;.|.	K|N	509;529;509;202|223	ENSP00000288133:N509K;ENSP00000288139:N529K;ENSP00000409174:N509K;ENSP00000418014:N202K|.	ENSP00000288139:N529K|.	N|T	+|+	3|2	2|0	CACNA1D|CACNA1D	53731402|53731402	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	1.361000|1.361000	0.34136|0.34136	0.379000|0.379000	0.24794|0.24794	0.655000|0.655000	0.94253|0.94253	AAC|ACC		0.448	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		35	87	1	0	2.05212e-20	1	2.3274e-20	35	87				
LSG1	55341	broad.mit.edu	37	3	194390737	194390737	+	Splice_Site	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:194390737C>T	ENST00000265245.5	-	2	541		c.e2+1		AC046143.1_ENST00000408791.1_RNA|LSG1_ENST00000480853.1_5'Flank	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1						GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		AAACAACTTACCAGCTACAAA	0.443																																						ENST00000265245.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16						c.e2+1		large 60S subunit nuclear export GTPase 1							139.0	143.0	142.0					3																	194390737		2203	4300	6503	SO:0001630	splice_region_variant	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194390737C>T		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.226+1G>A	3.37:g.194390737C>T								NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	2	541	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)							A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Splice_Site	SNP	ENST00000265245.5	37		CCDS33922.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.921051	0.52653	.	.	ENSG00000041802	ENST00000265245	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2586	0.87064	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LSG1	195872026	1.000000	0.71417	0.999000	0.59377	0.393000	0.30537	7.099000	0.76981	2.348000	0.79779	0.650000	0.86243	.		0.443	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385	Intron	38	122	0	0	0	1	0	38	122				
MEGF8	1954	broad.mit.edu	37	19	42874353	42874353	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:42874353G>A	ENST00000251268.6	+	39	6847	c.6847G>A	c.(6847-6849)Gag>Aag	p.E2283K	MEGF8_ENST00000378073.4_5'UTR|MEGF8_ENST00000334370.4_Missense_Mutation_p.E2216K	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2283	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAGCCACTGTGAGCAGTGCCT	0.622																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(6646-6648)Gag>Aag		multiple EGF-like-domains 8							44.0	46.0	46.0					19																	42874353		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42874353G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6847G>A	19.37:g.42874353G>A	ENSP00000251268:p.Glu2283Lys					MEGF8_ENST00000251268.6_Missense_Mutation_p.E2283K|MEGF8_ENST00000378073.4_5'UTR	p.E2216K	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			38	7281	+		Prostate(69;0.00682)	2283			EGF-like 5.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.6646G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.413871	0.96072	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.67865	-0.29;-0.29	3.95	3.95	0.45737	EGF-like, laminin (2);Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000001	D	0.86041	0.5838	H	0.98333	4.205	0.80722	D	1	D;D	0.67145	0.996;0.982	P;P	0.55923	0.787;0.78	D	0.91804	0.5454	10	0.72032	D	0.01	-25.0049	15.9503	0.79830	0.0:0.0:1.0:0.0	.	2283;2216	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	K	2216;2283	ENSP00000334219:E2216K;ENSP00000251268:E2283K	ENSP00000251268:E2283K	E	+	1	0	MEGF8	47566193	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.596000	0.74113	2.491000	0.84063	0.491000	0.48974	GAG		0.622	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		17	42	0	0	0	1	0	17	42				
OTUD5	55593	broad.mit.edu	37	X	48781242	48781242	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chrX:48781242G>A	ENST00000156084.4	-	7	1426	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	OTUD5_ENST00000428668.2_Missense_Mutation_p.R234W|OTUD5_ENST00000396743.3_Missense_Mutation_p.R451W|OTUD5_ENST00000376488.3_Missense_Mutation_p.R451W|OTUD5_ENST00000484499.1_5'Flank	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	456					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)	p.R427G(1)|p.R456G(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GCTGAACTCCGCTGCCGCGGG	0.637																																						ENST00000156084.4																			2	Substitution - Missense(2)	p.R427G(1)|p.R456G(1)	lung(2)	endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						c.(1366-1368)Cgg>Tgg		OTU domain containing 5							42.0	40.0	41.0					X																	48781242		2202	4300	6502	SO:0001583	missense	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48781242G>A		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.1366C>T	X.37:g.48781242G>A	ENSP00000156084:p.Arg456Trp					OTUD5_ENST00000396743.3_Missense_Mutation_p.R451W|OTUD5_ENST00000376488.3_Missense_Mutation_p.R451W|OTUD5_ENST00000428668.2_Missense_Mutation_p.R234W	p.R456W	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN			7	1426	-			456					B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	c.1366C>T	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.916020	0.33815	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;D;T;T	0.84873	0.91;0.91;-1.91;0.91;0.91	4.26	2.45	0.29901	.	0.085191	0.46758	D	0.000275	D	0.84397	0.5463	L	0.51422	1.61	0.48341	D	0.999637	D;B;B	0.71674	0.998;0.002;0.003	P;B;B	0.54590	0.756;0.0;0.001	T	0.82388	-0.0482	10	0.87932	D	0	-3.9289	6.0732	0.19901	0.104:0.0:0.7093:0.1867	.	234;456;451	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	W	451;427;329;456;451;234	ENSP00000379969:R451W;ENSP00000390767:R329W;ENSP00000156084:R456W;ENSP00000365671:R451W;ENSP00000401629:R234W	ENSP00000156084:R456W	R	-	1	2	OTUD5	48666186	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	4.739000	0.62080	0.540000	0.28808	0.523000	0.50628	CGG		0.637	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		10	6	0	0	0	1	0	10	6				
SMG7	9887	broad.mit.edu	37	1	183513602	183513602	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:183513602G>T	ENST00000347615.2	+	15	2076	c.1957G>T	c.(1957-1959)Gga>Tga	p.G653*	SMG7_ENST00000508461.1_Nonsense_Mutation_p.G611*|SMG7_ENST00000515829.2_Nonsense_Mutation_p.G607*|SMG7_ENST00000367537.3_Nonsense_Mutation_p.G636*|SMG7_ENST00000456731.2_Nonsense_Mutation_p.G565*|SMG7_ENST00000507469.1_Nonsense_Mutation_p.G607*	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	653	Gln/Pro-rich.				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)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCATCACCCTGGAGCCTTCCC	0.423																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1906-1908)Gga>Tga		SMG7 nonsense mediated mRNA decay factor							119.0	114.0	116.0					1																	183513602		2203	4300	6503	SO:0001587	stop_gained	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183513602G>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1957G>T	1.37:g.183513602G>T	ENSP00000340766:p.Gly653*					SMG7_ENST00000507469.1_Nonsense_Mutation_p.G607*|SMG7_ENST00000456731.2_Nonsense_Mutation_p.G565*|SMG7_ENST00000515829.2_Nonsense_Mutation_p.G607*|SMG7_ENST00000508461.1_Nonsense_Mutation_p.G611*|SMG7_ENST00000347615.2_Nonsense_Mutation_p.G653*	p.G636*			Q92540	SMG7_HUMAN			16	2101	+			653					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Nonsense_Mutation	SNP	ENST00000347615.2	37	c.1906G>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	39	7.292301	0.98192	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	.	.	.	5.91	5.91	0.95273	.	0.051815	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-5.1301	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	565;636;611;565;653;607;607	.	ENSP00000340766:G653X	G	+	1	0	SMG7	181780225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.182000	0.94881	2.793000	0.96121	0.655000	0.94253	GGA		0.423	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		77	42	1	0	1.39921e-30	1	1.65766e-30	77	42				
ARHGAP24	83478	broad.mit.edu	37	4	86916451	86916451	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr4:86916451G>C	ENST00000395184.1	+	9	2110	c.1644G>C	c.(1642-1644)caG>caC	p.Q548H	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.Q453H|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.Q455H	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	548					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		ATGACAAGCAGAGCATTGACA	0.502																																						ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1642-1644)caG>caC		Rho GTPase activating protein 24							140.0	115.0	123.0					4																	86916451		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86916451G>C	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1644G>C	4.37:g.86916451G>C	ENSP00000378611:p.Gln548His					ARHGAP24_ENST00000264343.4_Missense_Mutation_p.Q455H|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.Q453H	p.Q548H	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	2110	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	548					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.1644G>C	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	G	2.310	-0.358239	0.05138	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.14516	2.85;2.51;2.51;2.5	5.87	4.12	0.48240	.	0.053178	0.85682	N	0.000000	T	0.15046	0.0363	M	0.67953	2.075	0.48135	D	0.999595	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.10450	0.002;0.005;0.003	T	0.03852	-1.0998	10	0.34782	T	0.22	.	7.8063	0.29204	0.1412:0.1389:0.7199:0.0	.	453;455;548	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	H	548;453;463;455	ENSP00000378611:Q548H;ENSP00000378610:Q453H;ENSP00000425589:Q463H;ENSP00000264343:Q455H	ENSP00000264343:Q455H	Q	+	3	2	ARHGAP24	87135475	1.000000	0.71417	0.992000	0.48379	0.422000	0.31414	3.109000	0.50345	0.800000	0.34041	-0.229000	0.12294	CAG		0.502	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		30	59	0	0	0	1	0	30	59				
GPNMB	10457	broad.mit.edu	37	7	23306136	23306136	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr7:23306136G>C	ENST00000381990.2	+	7	1216	c.1055G>C	c.(1054-1056)gGa>gCa	p.G352A	GPNMB_ENST00000539136.1_Splice_Site_p.G241A|GPNMB_ENST00000453162.2_Missense_Mutation_p.G294A|GPNMB_ENST00000258733.4_Splice_Site_p.G340A	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	352					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			AACACCCCAGGACCTGCTGGT	0.388																																						ENST00000381990.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(1054-1056)gGa>gCa		glycoprotein (transmembrane) nmb							81.0	78.0	79.0					7																	23306136		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23306136G>C	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1055G>C	7.37:g.23306136G>C	ENSP00000371420:p.Gly352Ala					GPNMB_ENST00000258733.4_Splice_Site_p.G340_splice|GPNMB_ENST00000539136.1_Splice_Site_p.G241_splice|GPNMB_ENST00000453162.2_Missense_Mutation_p.G294A	p.G352A	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		7	1216	+			352					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.1055G>C	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	4.617	0.114612	0.08831	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.13657	2.59;2.57;2.59;2.57	5.89	-7.57	0.01318	PKD/Chitinase domain (1);	1.365760	0.04632	N	0.403782	T	0.06826	0.0174	.	.	.	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.35475	-0.9787	9	0.16896	T	0.51	4.921	9.593	0.39557	0.0:0.212:0.5402:0.2478	.	241;294;352;340	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	A	340;387;352;235;241;294	ENSP00000258733:G340A;ENSP00000371420:G352A;ENSP00000445266:G241A;ENSP00000405586:G294A	ENSP00000258733:G340A	G	+	2	0	GPNMB	23272661	0.012000	0.17670	0.000000	0.03702	0.020000	0.10135	-0.086000	0.11233	-1.726000	0.01370	-0.188000	0.12872	GGA		0.388	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		24	94	0	0	0	1	0	24	94				
KCNK10	54207	broad.mit.edu	37	14	88658688	88658688	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr14:88658688T>A	ENST00000340700.5	-	5	1184	c.733A>T	c.(733-735)Att>Ttt	p.I245F	KCNK10_ENST00000312350.5_Missense_Mutation_p.I250F|KCNK10_ENST00000319231.5_Missense_Mutation_p.I250F	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	245					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						ACAAACACAATGCAGCCGGCC	0.502																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(733-735)Att>Ttt		potassium channel, subfamily K, member 10							199.0	182.0	188.0					14																	88658688		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88658688T>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.733A>T	14.37:g.88658688T>A	ENSP00000343104:p.Ile245Phe					KCNK10_ENST00000319231.5_Missense_Mutation_p.I250F|KCNK10_ENST00000312350.5_Missense_Mutation_p.I250F	p.I245F	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			5	1184	-			245					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.733A>T	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.035871	0.54896	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.31247	1.5;1.5;1.5	5.89	-0.685	0.11328	Ion transport 2 (1);	0.306608	0.40385	N	0.001104	T	0.29126	0.0724	L	0.44542	1.39	0.51767	D	0.999936	P;P;B	0.49447	0.924;0.924;0.107	P;P;B	0.49597	0.616;0.616;0.069	T	0.02774	-1.1112	10	0.49607	T	0.09	.	7.7958	0.29146	0.0:0.4186:0.1224:0.459	.	245;250;250	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	F	245;250;250	ENSP00000343104:I245F;ENSP00000310568:I250F;ENSP00000312811:I250F	ENSP00000310568:I250F	I	-	1	0	KCNK10	87728441	0.963000	0.33076	0.829000	0.32907	0.988000	0.76386	0.086000	0.14935	-0.347000	0.08299	-0.264000	0.10439	ATT		0.502	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		9	62	0	0	0	1	0	9	62				
ISYNA1	51477	broad.mit.edu	37	19	18546692	18546692	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:18546692C>A	ENST00000338128.8	-	8	1232	c.1015G>T	c.(1015-1017)Gat>Tat	p.D339Y	ISYNA1_ENST00000545187.1_Missense_Mutation_p.D189Y|ISYNA1_ENST00000578963.1_Missense_Mutation_p.D211Y|ISYNA1_ENST00000317018.6_Missense_Mutation_p.D137Y|ISYNA1_ENST00000457269.4_Missense_Mutation_p.D285Y	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	339					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TTCTCCCCATCGTTGTTGCCC	0.592																																						ENST00000545187.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						c.(565-567)Gat>Tat		inositol-3-phosphate synthase 1							166.0	177.0	173.0					19																	18546692		2203	4300	6503	SO:0001583	missense	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18546692C>A		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.1015G>T	19.37:g.18546692C>A	ENSP00000337746:p.Asp339Tyr					ISYNA1_ENST00000457269.3_Missense_Mutation_p.D285Y|ISYNA1_ENST00000578963.1_Missense_Mutation_p.D211Y|ISYNA1_ENST00000317018.6_Missense_Mutation_p.D137Y|ISYNA1_ENST00000338128.7_Missense_Mutation_p.D339Y	p.D189Y			Q9NPH2	INO1_HUMAN			5	851	-			339					B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	ENST00000338128.8	37	c.565G>T	CCDS12379.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728298	0.30593	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	4.58	4.58	0.56647	Myo-inositol-1-phosphate synthase, GAPDH-like (1);	0.000000	0.85682	D	0.000000	D	0.87513	0.6196	H	0.97103	3.94	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91761	0.5420	9	0.87932	D	0	-31.8528	15.2171	0.73277	0.0:1.0:0.0:0.0	.	137;285;339;189	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	Y	339;285;189;137	.	ENSP00000315147:D137Y	D	-	1	0	ISYNA1	18407692	1.000000	0.71417	0.952000	0.39060	0.547000	0.35210	6.750000	0.74888	2.264000	0.75181	0.561000	0.74099	GAT		0.592	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		7	201	1	0	2.7689e-08	1	2.89334e-08	7	201				
SLC22A11	55867	broad.mit.edu	37	11	64335155	64335155	+	Silent	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr11:64335155C>T	ENST00000301891.4	+	7	1517	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	SLC22A11_ENST00000377585.3_Intron|SLC22A11_ENST00000377581.3_Silent_p.F381F	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	381					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	AGGCCCTCTTCGGGGCCGTGG	0.652																																						ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1141-1143)ttC>ttT		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						59.0	68.0	65.0					11																	64335155		2201	4297	6498	SO:0001819	synonymous_variant	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64335155C>T	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1143C>T	11.37:g.64335155C>T						SLC22A11_ENST00000377581.3_Silent_p.F381F|SLC22A11_ENST00000377585.3_Intron	p.F381F	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			7	1517	+			381					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	c.1143C>T	CCDS8074.1																																																																																				0.652	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		44	76	0	0	0	1	0	44	76				
RASSF4	83937	broad.mit.edu	37	10	45480359	45480359	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:45480359G>A	ENST00000340258.5	+	6	585	c.472G>A	c.(472-474)Gag>Aag	p.E158K	RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000334940.6_Missense_Mutation_p.E167K|RASSF4_ENST00000374417.2_Silent_p.*127*	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CGCCCCCGGTGAGGCCCAGCG	0.672																																						ENST00000334940.6																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(499-501)Gag>Aag		Ras association (RalGDS/AF-6) domain family member 4							73.0	89.0	84.0					10																	45480359		2203	4300	6503	SO:0001583	missense	83937				cell cycle|signal transduction		protein binding	g.chr10:45480359G>A	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.472G>A	10.37:g.45480359G>A	ENSP00000339692:p.Glu158Lys					RASSF4_ENST00000374417.2_Silent_p.*127*|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000340258.4_Missense_Mutation_p.E158K	p.E167K			Q9H2L5	RASF4_HUMAN			6	633	+			158					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000340258.5	37	c.499G>A	CCDS7208.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797652	0.90538	.	.	ENSG00000107551	ENST00000334940;ENST00000340258;ENST00000374411	T;T	0.48836	0.8;0.8	5.82	5.82	0.92795	.	0.096163	0.64402	D	0.000001	T	0.64616	0.2614	M	0.69823	2.125	0.80722	D	1	D;D;D	0.71674	0.998;0.992;0.969	D;P;P	0.65987	0.94;0.784;0.725	T	0.57831	-0.7743	10	0.12103	T	0.63	-33.7558	17.603	0.88030	0.0:0.0:1.0:0.0	.	167;249;158	Q9H2L5-2;Q59FL4;Q9H2L5	.;.;RASF4_HUMAN	K	167;158;249	ENSP00000334543:E167K;ENSP00000339692:E158K	ENSP00000334543:E167K	E	+	1	0	RASSF4	44800365	1.000000	0.71417	0.963000	0.40424	0.433000	0.31745	9.207000	0.95064	2.745000	0.94114	0.655000	0.94253	GAG		0.672	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		54	101	0	0	0	1	0	54	101				
PPP2R5E	5529	broad.mit.edu	37	14	63858695	63858695	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr14:63858695C>T	ENST00000337537.3	-	9	1500	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	PPP2R5E_ENST00000555899.1_Missense_Mutation_p.E300K|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.E224K|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	300					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTTACTGGTTCTGTGAGTGAA	0.289																																						ENST00000337537.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(898-900)Gaa>Aaa		protein phosphatase 2, regulatory subunit B', epsilon isoform							28.0	30.0	30.0					14																	63858695		2196	4296	6492	SO:0001583	missense	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63858695C>T	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.898G>A	14.37:g.63858695C>T	ENSP00000337641:p.Glu300Lys					PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.E300K|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.E224K	p.E300K	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	9	1500	-			300					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	37	c.898G>A	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896158	0.91962	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	M	0.84082	2.675	0.80722	D	1	P;P	0.46912	0.751;0.886	B;P	0.47891	0.211;0.56	T	0.79022	-0.1973	9	0.72032	D	0.01	-10.6237	19.5064	0.95118	0.0:1.0:0.0:0.0	.	300;300	B7ZKK9;Q16537	.;2A5E_HUMAN	K	300;300;224	.	ENSP00000337641:E300K	E	-	1	0	PPP2R5E	62928448	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.716000	0.84723	2.672000	0.90937	0.655000	0.94253	GAA		0.289	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		12	42	0	0	0	1	0	12	42				
LOC728554	728554	broad.mit.edu	37	5	177310701	177310701	+	RNA	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr5:177310701C>G	ENST00000506672.1	+	0	998					NR_003615.2																						TGTGAGTCTCCGACCTTCACA	0.473																																						ENST00000506672.1																			0																																																			728554							g.chr5:177310701C>G																													5.37:g.177310701C>G								NR_003615.2						0	998	+									RNA	SNP	ENST00000506672.1	37																																																																																						0.473	RP11-423H2.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373226.1			8	41	0	0	0	1	0	8	41				
SYT6	148281	broad.mit.edu	37	1	114680442	114680442	+	Missense_Mutation	SNP	C	C	A	rs139165674	byFrequency	TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:114680442C>A	ENST00000610222.1	-	3	892	c.746G>T	c.(745-747)cGt>cTt	p.R249L	SYT6_ENST00000607941.1_Missense_Mutation_p.R164L|SYT6_ENST00000369547.1_Missense_Mutation_p.R164L|SYT6_ENST00000609117.1_Missense_Mutation_p.R164L|SYT6_ENST00000393296.1_Missense_Mutation_p.R249L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.R164H(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		CTTCAGGATACGCACAATCAG	0.542													C|||	2	0.000399361	0.0	0.0014	5008	,	,		23094	0.0		0.001	False		,,,				2504	0.0					ENST00000393296.1																			2	Substitution - Missense(2)	p.R164H(2)	large_intestine(1)|lung(1)	central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(745-747)cGt>cTt		synaptotagmin VI							162.0	140.0	148.0					1																	114680442		2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680442C>A		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.746G>T	1.37:g.114680442C>A	ENSP00000476396:p.Arg249Leu					SYT6_ENST00000369547.1_Missense_Mutation_p.R164L	p.R249L			Q5T7P8	SYT6_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)	3	823	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	249			C2 1.		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.746G>T		.	.	.	.	.	.	.	.	.	.	C	15.98	2.993120	0.54041	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.61	4.7	0.59300	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.222251	0.44285	D	0.000462	T	0.55465	0.1922	L	0.55834	1.745	0.45914	D	0.998754	P	0.43169	0.8	B	0.43331	0.416	T	0.63528	-0.6617	10	0.66056	D	0.02	.	14.7542	0.69552	0.0:0.9308:0.0:0.0692	.	249	Q5T7P8	SYT6_HUMAN	L	164;249;164;249	ENSP00000358560:R164L;ENSP00000376974:R249L;ENSP00000358559:R164L;ENSP00000358558:R249L	ENSP00000358558:R249L	R	-	2	0	SYT6	114481965	0.903000	0.30736	1.000000	0.80357	0.826000	0.46750	1.884000	0.39668	1.397000	0.46682	-0.119000	0.15052	CGT		0.542	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		41	72	1	0	7.63091e-17	1	8.4991e-17	41	72				
GSG1	83445	broad.mit.edu	37	12	13243575	13243575	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr12:13243575C>A	ENST00000432710.2	-	2	358	c.226G>T	c.(226-228)Gtg>Ttg	p.V76L	GSG1_ENST00000396310.2_Missense_Mutation_p.V60L|GSG1_ENST00000457134.2_Missense_Mutation_p.V63L|GSG1_ENST00000396302.3_Missense_Mutation_p.V63L|GSG1_ENST00000537302.1_Missense_Mutation_p.V63L|GSG1_ENST00000351606.6_Missense_Mutation_p.V76L|GSG1_ENST00000337630.6_Missense_Mutation_p.V63L|GSG1_ENST00000324458.8_Missense_Mutation_p.V76L	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	63						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)		TCCAGGGACACTGGCATGTCA	0.567																																						ENST00000337630.6																			0				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10						c.(187-189)Gtg>Ttg		germ cell associated 1							144.0	124.0	131.0					12																	13243575		2203	4300	6503	SO:0001583	missense	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13243575C>A	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.226G>T	12.37:g.13243575C>A	ENSP00000405032:p.Val76Leu					GSG1_ENST00000457134.2_Missense_Mutation_p.V63L|GSG1_ENST00000396302.3_Missense_Mutation_p.V63L|GSG1_ENST00000432710.2_Missense_Mutation_p.V76L|GSG1_ENST00000537302.1_Missense_Mutation_p.V63L|GSG1_ENST00000396310.2_Missense_Mutation_p.V60L|GSG1_ENST00000324458.8_Missense_Mutation_p.V76L|GSG1_ENST00000351606.6_Missense_Mutation_p.V76L	p.V63L	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	2	254	-		Prostate(47;0.183)	63					Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000432710.2	37	c.187G>T	CCDS55808.1	.	.	.	.	.	.	.	.	.	.	C	3.095	-0.185940	0.06340	.	.	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	-7.74	0.01241	.	0.547984	0.20104	N	0.099166	T	0.16257	0.0391	L	0.41415	1.275	0.18873	N	0.999986	P;B;B;B;B;B;B;B	0.48350	0.909;0.004;0.042;0.002;0.003;0.012;0.034;0.003	B;B;B;B;B;B;B;B	0.43623	0.425;0.014;0.027;0.015;0.004;0.006;0.026;0.015	T	0.36335	-0.9752	10	0.07644	T	0.81	.	8.4069	0.32621	0.0:0.2293:0.2626:0.5081	.	76;76;76;63;63;63;63;63	Q2KHT4-7;Q2KHT4-6;G3XAB9;Q2KHT4;Q2KHT4-5;Q2KHT4-2;F1T0A0;F1T0A1	.;.;.;GSG1_HUMAN;.;.;.;.	L	63;76;60;63;63;76;63;76;60;76;76;63	ENSP00000336816:V63L;ENSP00000320838:V76L;ENSP00000379604:V60L;ENSP00000379596:V63L;ENSP00000398384:V63L;ENSP00000405032:V76L;ENSP00000441718:V63L;ENSP00000336857:V76L;ENSP00000445884:V76L;ENSP00000439676:V76L;ENSP00000440684:V63L	ENSP00000320838:V76L	V	-	1	0	GSG1	13134842	0.000000	0.05858	0.002000	0.10522	0.088000	0.18126	-1.258000	0.02863	-1.992000	0.00975	-1.172000	0.01736	GTG		0.567	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316546.1	NM_031289		35	86	1	0	1.26612e-14	1	1.38528e-14	35	86				
NPHS1	4868	broad.mit.edu	37	19	36336673	36336673	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:36336673G>T	ENST00000378910.5	-	13	1654	c.1655C>A	c.(1654-1656)gCc>gAc	p.A552D	NPHS1_ENST00000353632.6_Missense_Mutation_p.A552D	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	552	Ig-like C2-type 6.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGATGCGTTGGCCAGGATCGT	0.637																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1654-1656)gCc>gAc		nephrosis 1, congenital, Finnish type (nephrin)							53.0	49.0	50.0					19																	36336673		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36336673G>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1655C>A	19.37:g.36336673G>T	ENSP00000368190:p.Ala552Asp					NPHS1_ENST00000353632.6_Missense_Mutation_p.A552D	p.A552D	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		13	1654	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		552			Ig-like C2-type 6.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.1655C>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031306	0.75504	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.86432	-2.12;-2.12	5.14	5.14	0.70334	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.170167	0.51477	D	0.000085	D	0.90521	0.7030	L	0.57536	1.79	0.40832	D	0.983595	D	0.71674	0.998	D	0.69824	0.966	D	0.88425	0.3031	10	0.27082	T	0.32	-27.4133	12.2323	0.54495	0.0:0.1717:0.8283:0.0	.	552	O60500	NPHN_HUMAN	D	552	ENSP00000368190:A552D;ENSP00000343634:A552D	ENSP00000343634:A552D	A	-	2	0	NPHS1	41028513	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	4.160000	0.58164	2.576000	0.86940	0.561000	0.74099	GCC		0.637	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			10	34	1	0	5.50884e-06	1	5.66101e-06	10	34				
PDE4DIP	9659	broad.mit.edu	37	1	144921929	144921929	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:144921929C>T	ENST00000369354.3	-	9	1289	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R504H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R530H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R367H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R154H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R367H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R367H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R433H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.R530H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R504H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	367					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)		AGCCAGTTGGCGCTCTTTCTG	0.478			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				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						c.(1588-1590)cGc>cAc		phosphodiesterase 4D interacting protein							358.0	372.0	367.0					1																	144921929		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144921929C>T	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.1100G>A	1.37:g.144921929C>T	ENSP00000358360:p.Arg367His					PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R367H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R433H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R367H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R367H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R367H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R530H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R504H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R154H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R504H	p.R530H			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	5	2028	-			367					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.1589G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964364	0.74131	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408;ENST00000532801	T;T;T;T;T;T;T;T;T;T;T	0.50548	4.54;4.62;4.65;4.64;4.63;3.64;3.65;2.46;2.47;2.52;0.74	5.82	5.82	0.92795	.	.	.	.	.	T	0.55847	0.1946	L	0.43152	1.355	0.80722	D	1	B;D;B;B;B	0.89917	0.08;1.0;0.351;0.429;0.12	B;D;B;B;B	0.91635	0.016;0.999;0.05;0.107;0.04	T	0.55335	-0.8157	9	0.56958	D	0.05	.	17.5951	0.88009	0.0:1.0:0.0:0.0	.	530;367;530;433;367	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	H	433;367;367;530;504;504;367;367;530;530;154;96	ENSP00000327209:R433H;ENSP00000358360:R367H;ENSP00000358363:R367H;ENSP00000435654:R504H;ENSP00000358366:R504H;ENSP00000358357:R367H;ENSP00000358355:R367H;ENSP00000316434:R530H;ENSP00000433392:R530H;ENSP00000436791:R154H;ENSP00000436751:R96H	ENSP00000327209:R433H	R	-	2	0	PDE4DIP	143633286	0.999000	0.42202	1.000000	0.80357	0.943000	0.58893	2.201000	0.42734	2.754000	0.94517	0.650000	0.86243	CGC		0.478	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		7	693	0	0	0	1	0	7	693				
DHODH	1723	broad.mit.edu	37	16	72057134	72057134	+	Missense_Mutation	SNP	G	G	A	rs200181357		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:72057134G>A	ENST00000219240.4	+	7	911	c.890G>A	c.(889-891)cGc>cAc	p.R297H	DHODH_ENST00000573922.1_3'UTR|DHODH_ENST00000572887.1_Missense_Mutation_p.R297H	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	297					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	GGTGCCCTGCGCTCTGAAACA	0.562																																						ENST00000572887.1																			0				breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10						c.(889-891)cGc>cAc		dihydroorotate dehydrogenase (quinone)	Atovaquone(DB01117)|Leflunomide(DB01097)	G	HIS/ARG	1,3845		0,1,1922	44.0	45.0	45.0		890	4.6	1.0	16		45	8,8262		0,8,4127	yes	missense	DHODH	NM_001361.4	29	0,9,6049	AA,AG,GG		0.0967,0.026,0.0743	probably-damaging	297/396	72057134	9,12107	1923	4135	6058	SO:0001583	missense	1723				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity	g.chr16:72057134G>A		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.890G>A	16.37:g.72057134G>A	ENSP00000219240:p.Arg297His					DHODH_ENST00000219240.4_Missense_Mutation_p.R297H|DHODH_ENST00000573922.1_3'UTR	p.R297H			Q02127	PYRD_HUMAN			7	1067	+		Ovarian(137;0.125)	297					A8K8C8|Q6P176	Missense_Mutation	SNP	ENST00000219240.4	37	c.890G>A	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035191	0.54896	2.6E-4	9.67E-4	ENSG00000102967	ENST00000219240	D	0.85258	-1.96	5.59	4.62	0.57501	Aldolase-type TIM barrel (1);	0.391760	0.29775	N	0.011234	T	0.79118	0.4392	L	0.48642	1.525	0.45205	D	0.998212	B	0.25390	0.125	B	0.15052	0.012	T	0.75966	-0.3131	10	0.49607	T	0.09	-0.3484	10.1455	0.42760	0.0712:0.1378:0.791:0.0	.	297	Q02127	PYRD_HUMAN	H	297	ENSP00000219240:R297H	ENSP00000219240:R297H	R	+	2	0	DHODH	70614635	0.967000	0.33354	1.000000	0.80357	0.904000	0.53231	2.880000	0.48530	1.458000	0.47871	0.561000	0.74099	CGC		0.562	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361		33	39	0	0	0	1	0	33	39				
RASL10A	10633	broad.mit.edu	37	22	29709456	29709456	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr22:29709456C>G	ENST00000216101.6	-	3	955	c.446G>C	c.(445-447)cGc>cCc	p.R149P	RASL10A_ENST00000608559.1_5'Flank|RASL10A_ENST00000401450.3_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	149	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						CCAGCCCCTGCGCACTAGGGC	0.736																																						ENST00000216101.6																			0				NS(1)	1						c.(445-447)cGc>cCc		RAS-like, family 10, member A							3.0	4.0	4.0					22																	29709456		1798	3594	5392	SO:0001583	missense	10633				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr22:29709456C>G	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106	ENST00000216101.6:c.446G>C	22.37:g.29709456C>G	ENSP00000216101:p.Arg149Pro					RASL10A_ENST00000401450.3_3'UTR	p.R149P	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN			3	955	-			149			Small GTPase-like.		Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	c.446G>C	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935280	0.92458	.	.	ENSG00000100276	ENST00000216101	T	0.80653	-1.4	5.01	3.92	0.45320	.	0.055575	0.64402	D	0.000003	D	0.86843	0.6030	M	0.80847	2.515	0.46927	D	0.999257	D	0.89917	1.0	D	0.83275	0.996	D	0.86266	0.1658	10	0.56958	D	0.05	.	4.4942	0.11828	0.0:0.7228:0.0:0.2772	.	149	Q92737	RSLAA_HUMAN	P	149	ENSP00000216101:R149P	ENSP00000216101:R149P	R	-	2	0	RASL10A	28039456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.602000	0.61098	2.329000	0.79093	0.561000	0.74099	CGC		0.736	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			4	4	0	0	0	1	0	4	4				
SFMBT2	57713	broad.mit.edu	37	10	7214103	7214103	+	Silent	SNP	G	G	A	rs149003494		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:7214103G>A	ENST00000361972.4	-	19	2259	c.2169C>T	c.(2167-2169)gaC>gaT	p.D723D	SFMBT2_ENST00000397167.1_Silent_p.D723D	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	723					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGGCGTCAGCGTCCTCCTCTT	0.682																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(2167-2169)gaC>gaT		Scm-like with four mbt domains 2		G	,	1,4405	2.1+/-5.4	0,1,2202	30.0	34.0	33.0		2169,2169	-5.3	0.0	10	dbSNP_134	33	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SFMBT2	NM_001018039.1,NM_001029880.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	723/895,723/895	7214103	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7214103G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2169C>T	10.37:g.7214103G>A						SFMBT2_ENST00000397167.1_Silent_p.D723D	p.D723D	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			19	2259	-			723					A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.2169C>T	CCDS31138.1																																																																																				0.682	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		7	26	0	0	0	1	0	7	26				
E2F5	1875	broad.mit.edu	37	8	86126067	86126067	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:86126067T>G	ENST00000416274.2	+	8	1045	c.1011T>G	c.(1009-1011)gaT>gaG	p.D337E	E2F5_ENST00000517476.1_Missense_Mutation_p.D176E|E2F5_ENST00000418930.2_Missense_Mutation_p.D336E|E2F5_ENST00000256117.5_Missense_Mutation_p.D338E|E2F5_ENST00000521429.1_Missense_Mutation_p.D164E|E2F5_ENST00000519128.1_3'UTR	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	337	RBL2 association. {ECO:0000255}.|Transactivation. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GAGTTTGTGATCTGTTTGATG	0.348																																						ENST00000418930.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(1006-1008)gaT>gaG		E2F transcription factor 5, p130-binding							99.0	93.0	95.0					8																	86126067		1840	4090	5930	SO:0001583	missense	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86126067T>G	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.1011T>G	8.37:g.86126067T>G	ENSP00000398124:p.Asp337Glu					E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000416274.2_Missense_Mutation_p.D337E|E2F5_ENST00000517476.1_Missense_Mutation_p.D176E|E2F5_ENST00000256117.5_Missense_Mutation_p.D338E|E2F5_ENST00000521429.1_Missense_Mutation_p.D164E	p.D336E			Q15329	E2F5_HUMAN			8	1204	+			337			RBL2 association (Potential).|Transactivation (Potential).		E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.1008T>G	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.127396	0.77549	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	6.02	3.56	0.40772	.	0.000000	0.85682	D	0.000000	D	0.87842	0.6279	L	0.45698	1.435	0.50632	D	0.999883	D;D;D	0.65815	0.99;0.995;0.991	P;D;D	0.68765	0.768;0.96;0.913	D	0.86031	0.1513	10	0.56958	D	0.05	-27.4939	9.6731	0.40023	0.0:0.1502:0.0:0.8498	.	164;336;337	E5RHD4;Q15329-2;Q15329	.;.;E2F5_HUMAN	E	336;338;337;176;164;173	ENSP00000414312:D336E;ENSP00000256117:D338E;ENSP00000398124:D337E;ENSP00000429120:D176E;ENSP00000428606:D164E;ENSP00000429669:D173E	ENSP00000256117:D338E	D	+	3	2	E2F5	86313319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.512000	0.45485	0.479000	0.27511	0.533000	0.62120	GAT		0.348	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		16	38	0	0	0	1	0	16	38				
CDKAL1	54901	broad.mit.edu	37	6	21000492	21000492	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr6:21000492A>C	ENST00000378610.1	+	9	954	c.944A>C	c.(943-945)tAc>tCc	p.Y315S	CDKAL1_ENST00000274695.4_Missense_Mutation_p.Y315S|CDKAL1_ENST00000378624.4_Missense_Mutation_p.Y245S			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	315					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CCCAGAGTCTACGCTTTTCTG	0.393																																						ENST00000274695.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29						c.(943-945)tAc>tCc		CDK5 regulatory subunit associated protein 1-like 1							117.0	115.0	116.0					6																	21000492		2203	4300	6503	SO:0001583	missense	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:21000492A>C	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.944A>C	6.37:g.21000492A>C	ENSP00000367873:p.Tyr315Ser					CDKAL1_ENST00000378610.1_Missense_Mutation_p.Y315S|CDKAL1_ENST00000378624.4_Missense_Mutation_p.Y245S	p.Y315S	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		11	1111	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		315					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	c.944A>C	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.638369	0.67130	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.20463	2.07;2.07;2.07	5.48	5.48	0.80851	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.059614	0.64402	D	0.000001	T	0.37571	0.1008	M	0.73217	2.22	0.52099	D	0.999948	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.30327	-0.9982	10	0.72032	D	0.01	.	15.5737	0.76359	1.0:0.0:0.0:0.0	.	245;315	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	S	315;245;315	ENSP00000274695:Y315S;ENSP00000367889:Y245S;ENSP00000367873:Y315S	ENSP00000274695:Y315S	Y	+	2	0	CDKAL1	21108471	1.000000	0.71417	0.960000	0.40013	0.992000	0.81027	6.997000	0.76270	2.073000	0.62155	0.460000	0.39030	TAC		0.393	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		52	136	0	0	0	1	0	52	136				
FAM179B	23116	broad.mit.edu	37	14	45475316	45475316	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr14:45475316C>G	ENST00000361577.3	+	5	2964	c.2750C>G	c.(2749-2751)cCa>cGa	p.P917R	FAM179B_ENST00000361462.2_Missense_Mutation_p.P917R|FAM179B_ENST00000382233.2_Missense_Mutation_p.P917R|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	917										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CCTCCCATACCAAGGGGAATA	0.438																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(2749-2751)cCa>cGa		family with sequence similarity 179, member B							128.0	128.0	128.0					14																	45475316		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45475316C>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2750C>G	14.37:g.45475316C>G	ENSP00000355045:p.Pro917Arg					FAM179B_ENST00000361577.3_Missense_Mutation_p.P917R|FAM179B_ENST00000382233.2_Missense_Mutation_p.P917R|KLHL28_ENST00000553817.1_Intron	p.P917R			Q9Y4F4	F179B_HUMAN			5	2933	+			917					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.2750C>G	CCDS9681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.487797|4.487797	0.84854|0.84854	.|.	.|.	ENSG00000198718|ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233|ENST00000557250	T;T;T|.	0.48522|.	2.67;2.65;0.81|.	5.39|5.39	5.39|5.39	0.77823|0.77823	Armadillo-type fold (1);|.	0.082289|.	0.50627|.	D|.	0.000117|.	T|T	0.57066|0.57066	0.2028|0.2028	L|L	0.27053|0.27053	0.805|0.805	0.43531|0.43531	D|D	0.995813|0.995813	D;D;D|.	0.57571|.	0.958;0.958;0.98|.	P;P;P|.	0.51229|.	0.491;0.491;0.663|.	T|T	0.51741|0.51741	-0.8667|-0.8667	10|5	0.66056|.	D|.	0.02|.	-11.3312|-11.3312	18.8028|18.8028	0.92025|0.92025	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	917;917;917|.	G3XAE9;Q9Y4F4;Q9Y4F4-2|.	.;F179B_HUMAN;.|.	R|E	917|109	ENSP00000355045:P917R;ENSP00000354917:P917R;ENSP00000371668:P917R|.	ENSP00000354917:P917R|.	P|Q	+|+	2|1	0|0	FAM179B|FAM179B	44545066|44545066	0.970000|0.970000	0.33590|0.33590	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	3.802000|3.802000	0.55553|0.55553	2.538000|2.538000	0.85594|0.85594	0.558000|0.558000	0.71614|0.71614	CCA|CAA		0.438	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		44	90	0	0	0	1	0	44	90				
EXOG	9941	broad.mit.edu	37	3	38565632	38565632	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:38565632G>T	ENST00000287675.5	+	6	982	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L	EXOG_ENST00000358249.2_Intron|EXOG_ENST00000422077.2_Missense_Mutation_p.V246L	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	296					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TATCTGCTCTGTGGACACCTG	0.448																																						ENST00000287675.5																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						c.(886-888)Gtg>Ttg		endo/exonuclease (5'-3'), endonuclease G-like							138.0	150.0	146.0					3																	38565632		2203	4300	6503	SO:0001583	missense	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38565632G>T	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.886G>T	3.37:g.38565632G>T	ENSP00000287675:p.Val296Leu					EXOG_ENST00000422077.2_Missense_Mutation_p.V246L|EXOG_ENST00000358249.2_Intron	p.V296L	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN			6	982	+			296					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	c.886G>T	CCDS2680.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466711	0.43839	.	.	ENSG00000157036	ENST00000287675;ENST00000422077	T;T	0.43294	0.95;0.97	5.54	4.66	0.58398	Extracellular Endonuclease, subunit A (1);	0.069669	0.56097	D	0.000029	T	0.36799	0.0980	L	0.55481	1.735	0.80722	D	1	B;B	0.26672	0.124;0.156	B;B	0.27715	0.082;0.041	T	0.15809	-1.0424	10	0.27785	T	0.31	-15.1633	10.1653	0.42877	0.0699:0.0:0.7919:0.1382	.	246;296	Q9Y2C4-4;Q9Y2C4	.;EXOG_HUMAN	L	296;246	ENSP00000287675:V296L;ENSP00000404305:V246L	ENSP00000287675:V296L	V	+	1	0	EXOG	38540636	1.000000	0.71417	0.972000	0.41901	0.989000	0.77384	4.474000	0.60203	1.558000	0.49541	-0.181000	0.13052	GTG		0.448	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		82	158	1	0	2.05912e-35	1	2.48699e-35	82	158				
PPM1B	5495	broad.mit.edu	37	2	44459467	44459467	+	IGR	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr2:44459467C>G	ENST00000282412.4	+	0	2606				PPM1B_ENST00000378551.2_Missense_Mutation_p.L383V|PPM1B_ENST00000378540.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B						cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGCTGGAGATCTAGAAGACCC	0.333																																						ENST00000378551.2																			0				kidney(4)|large_intestine(3)|lung(7)|skin(2)	16						c.(1147-1149)Cta>Gta		protein phosphatase, Mg2+/Mn2+ dependent, 1B							110.0	125.0	120.0					2																	44459467		2203	4300	6503	SO:0001628	intergenic_variant	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44459467C>G	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757		2.37:g.44459467C>G						PPM1B_ENST00000378540.4_Intron	p.L383V	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN			6	1559	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	383					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.1147C>G	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	C	0.654	-0.808260	0.02819	.	.	ENSG00000138032	ENST00000378551	T	0.21734	1.99	5.77	5.77	0.91146	.	.	.	.	.	T	0.12220	0.0297	N	0.08118	0	0.80722	D	1	B	0.14438	0.01	B	0.15870	0.014	T	0.13361	-1.0512	9	0.06236	T	0.91	.	20.5225	0.99228	0.0:1.0:0.0:0.0	.	383	O75688-2	.	V	383	ENSP00000367813:L383V	ENSP00000367813:L383V	L	+	1	2	PPM1B	44312971	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.570000	0.67398	2.928000	0.99379	0.638000	0.83543	CTA		0.333	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		31	72	0	0	0	1	0	31	72				
ANKRD27	84079	broad.mit.edu	37	19	33092942	33092942	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:33092942T>C	ENST00000306065.4	-	26	2904	c.2746A>G	c.(2746-2748)Act>Gct	p.T916A		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	916					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ATCTTAACAGTGACATACTCC	0.378																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(2746-2748)Act>Gct		ankyrin repeat domain 27 (VPS9 domain)							161.0	147.0	152.0					19																	33092942		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33092942T>C	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2746A>G	19.37:g.33092942T>C	ENSP00000304292:p.Thr916Ala						p.T916A	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			26	2904	-	Esophageal squamous(110;0.137)		916					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.2746A>G	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	T	5.037	0.192576	0.09599	.	.	ENSG00000105186	ENST00000306065	T	0.61510	0.1	5.97	4.9	0.64082	.	0.286651	0.30320	N	0.009900	T	0.41351	0.1155	L	0.39898	1.24	0.42102	D	0.99134	B	0.12013	0.005	B	0.12156	0.007	T	0.28459	-1.0043	10	0.11794	T	0.64	-18.6635	6.0642	0.19854	0.149:0.1016:0.0:0.7494	.	916	Q96NW4	ANR27_HUMAN	A	916	ENSP00000304292:T916A	ENSP00000304292:T916A	T	-	1	0	ANKRD27	37784782	0.836000	0.29430	0.578000	0.28575	0.124000	0.20399	1.200000	0.32247	2.281000	0.76405	0.528000	0.53228	ACT		0.378	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		46	88	0	0	0	1	0	46	88				
TMEM68	137695	broad.mit.edu	37	8	56652716	56652716	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:56652716C>G	ENST00000434581.2	-	8	1149	c.950G>C	c.(949-951)aGt>aCt	p.S317T	TMEM68_ENST00000519784.1_Missense_Mutation_p.S136T|TMEM68_ENST00000334667.2_Missense_Mutation_p.S250T			Q96MH6	TMM68_HUMAN	transmembrane protein 68	317						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TAACAAAGCACTCATAATGTT	0.308																																						ENST00000434581.2																			0				NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(949-951)aGt>aCt		transmembrane protein 68							125.0	118.0	120.0					8																	56652716		2202	4298	6500	SO:0001583	missense	137695					integral to membrane	acyltransferase activity	g.chr8:56652716C>G	AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.950G>C	8.37:g.56652716C>G	ENSP00000395204:p.Ser317Thr					TMEM68_ENST00000334667.2_Missense_Mutation_p.S250T|TMEM68_ENST00000519784.1_Missense_Mutation_p.S136T	p.S317T			Q96MH6	TMM68_HUMAN	Epithelial(17;0.000361)|all cancers(17;0.00326)		8	1149	-			317					Q658X6|Q8WUD2	Missense_Mutation	SNP	ENST00000434581.2	37	c.950G>C		.	.	.	.	.	.	.	.	.	.	C	14.66	2.601584	0.46423	.	.	ENSG00000167904	ENST00000434581;ENST00000334667;ENST00000540934;ENST00000519784	.	.	.	5.11	4.23	0.50019	.	0.199698	0.44483	D	0.000455	T	0.43942	0.1270	N	0.22421	0.69	0.80722	D	1	B;B	0.18310	0.027;0.002	B;B	0.16289	0.015;0.011	T	0.40515	-0.9559	9	0.72032	D	0.01	-9.2706	12.686	0.56948	0.0:0.919:0.0:0.081	.	250;317	Q96MH6-2;Q96MH6	.;TMM68_HUMAN	T	317;250;84;136	.	ENSP00000335416:S250T	S	-	2	0	TMEM68	56815270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.663000	0.54518	1.294000	0.44707	0.650000	0.86243	AGT		0.308	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		4	142	0	0	0	1	0	4	142				
AMER2	219287	broad.mit.edu	37	13	25745572	25745572	+	Silent	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr13:25745572C>T	ENST00000515384.1	-	1	853	c.186G>A	c.(184-186)aaG>aaA	p.K62K	AMER2_ENST00000357816.2_Silent_p.K62K|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Silent_p.K62K			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	62	Gly-rich.				ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										CTTTATTAATCTTCCCCGACG	0.597																																						ENST00000357816.2																			0											c.(184-186)aaG>aaA		APC membrane recruitment protein 2							35.0	41.0	39.0					13																	25745572		2183	4278	6461	SO:0001819	synonymous_variant	219287							g.chr13:25745572C>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.186G>A	13.37:g.25745572C>T						AMER2_ENST00000381853.3_Silent_p.K62K|AMER2_ENST00000515384.1_Silent_p.K62K	p.K62K							2	661	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Silent	SNP	ENST00000515384.1	37	c.186G>A	CCDS53859.1																																																																																				0.597	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		14	31	0	0	0	1	0	14	31				
PLA2G4E	123745	broad.mit.edu	37	15	42298223	42298223	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:42298223T>G	ENST00000399518.3	-	4	976	c.490A>C	c.(490-492)Aag>Cag	p.K164Q	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.K135Q|CTD-2382E5.2_ENST00000552704.1_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	146					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TGGGTTTTCTTTCGGAAACAG	0.507																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(490-492)Aag>Cag		phospholipase A2, group IVE							120.0	130.0	126.0					15																	42298223		2144	4271	6415	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42298223T>G		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.490A>C	15.37:g.42298223T>G	ENSP00000382434:p.Lys164Gln					PLA2G4E_ENST00000413860.2_Missense_Mutation_p.K135Q	p.K164Q	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	4	976	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	146					Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.490A>C	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124183	0.37533	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.39406	1.08;3.01	5.66	3.31	0.37934	.	0.307906	0.25192	U	0.032448	T	0.23965	0.0580	L	0.28115	0.83	0.25358	N	0.988807	B	0.20887	0.049	B	0.19148	0.024	T	0.15492	-1.0435	10	0.25106	T	0.35	-34.4003	3.4679	0.07557	0.2827:0.1533:0.0:0.5639	.	135	C9JK77	.	Q	164;135	ENSP00000382434:K164Q;ENSP00000413897:K135Q	ENSP00000382434:K164Q	K	-	1	0	PLA2G4E	40085515	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	1.474000	0.35398	0.399000	0.25367	0.460000	0.39030	AAG		0.507	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		10	53	0	0	0	1	0	10	53				
ITLN1	55600	broad.mit.edu	37	1	160846552	160846552	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:160846552C>G	ENST00000326245.3	-	8	959	c.844G>C	c.(844-846)Gat>Cat	p.D282H	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	282					positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCAGAAAAATCTCCACACTGC	0.483																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(844-846)Gat>Cat		intelectin 1 (galactofuranose binding)							105.0	100.0	101.0					1																	160846552		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160846552C>G	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.844G>C	1.37:g.160846552C>G	ENSP00000323587:p.Asp282His						p.D282H	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		8	959	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		282					Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.844G>C	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737648	0.49045	.	.	ENSG00000179914	ENST00000326245	T	0.57273	0.41	4.17	4.17	0.49024	.	0.000000	0.56097	U	0.000037	T	0.75273	0.3827	H	0.94808	3.585	0.49051	D	0.999742	D	0.89917	1.0	D	0.97110	1.0	T	0.82946	-0.0205	10	0.87932	D	0	.	14.0049	0.64456	0.0:1.0:0.0:0.0	.	282	Q8WWA0	ITLN1_HUMAN	H	282	ENSP00000323587:D282H	ENSP00000323587:D282H	D	-	1	0	ITLN1	159113176	0.997000	0.39634	0.843000	0.33291	0.307000	0.27823	4.848000	0.62874	2.129000	0.65627	0.655000	0.94253	GAT		0.483	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		36	99	0	0	0	1	0	36	99				
IPO8	10526	broad.mit.edu	37	12	30822217	30822217	+	Splice_Site	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr12:30822217C>G	ENST00000256079.4	-	10	1383		c.e10-1		IPO8_ENST00000544829.1_Splice_Site	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8						intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGAGATATTCTAAAATGAGA	0.308																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.e10-1		importin 8							52.0	54.0	53.0					12																	30822217		2203	4290	6493	SO:0001630	splice_region_variant	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30822217C>G	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1045-1G>C	12.37:g.30822217C>G						IPO8_ENST00000544829.1_Splice_Site		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			10	1383	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)							B7Z7M3	Splice_Site	SNP	ENST00000256079.4	37		CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154127	0.57259	.	.	ENSG00000133704	ENST00000256079;ENST00000544829;ENST00000542464	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1986	0.59754	0.1599:0.84:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IPO8	30713484	1.000000	0.71417	0.996000	0.52242	0.851000	0.48451	7.346000	0.79347	2.357000	0.79964	0.650000	0.86243	.		0.308	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	Intron	25	31	0	0	0	1	0	25	31				
RNASE13	440163	broad.mit.edu	37	14	21502043	21502043	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr14:21502043G>C	ENST00000382951.3	-	2	542	c.405C>G	c.(403-405)taC>taG	p.Y135*	RP11-998D10.1_ENST00000531638.1_3'UTR|NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	135						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		AGCAGAGTAGGTAGAGCTTCT	0.532																																						ENST00000382951.3																			0				cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12						c.(403-405)taC>taG		ribonuclease, RNase A family, 13 (non-active)							255.0	202.0	220.0					14																	21502043		2203	4300	6503	SO:0001587	stop_gained	440163					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21502043G>C	AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"""Ribonucleases, RNase A"""	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.405C>G	14.37:g.21502043G>C	ENSP00000372410:p.Tyr135*					NDRG2_ENST00000403829.3_Intron|RP11-998D10.1_ENST00000531638.1_3'UTR	p.Y135*	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)	2	542	-	all_cancers(95;0.000759)		135						Nonsense_Mutation	SNP	ENST00000382951.3	37	c.405C>G	CCDS32039.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784283	0.31593	.	.	ENSG00000206150	ENST00000382951	.	.	.	5.28	-0.615	0.11587	.	0.267748	0.27126	N	0.020812	.	.	.	.	.	.	0.52501	D	0.999955	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8283	4.975	0.14136	0.3519:0.1569:0.4912:0.0	.	.	.	.	X	135	.	ENSP00000372410:Y135X	Y	-	3	2	RNASE13	20571883	0.997000	0.39634	0.967000	0.41034	0.051000	0.14879	0.105000	0.15333	-0.105000	0.12132	0.650000	0.86243	TAC		0.532	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411744.1			61	115	0	0	0	1	0	61	115				
HEATR5B	54497	broad.mit.edu	37	2	37229640	37229640	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr2:37229640T>A	ENST00000233099.5	-	32	5221	c.5126A>T	c.(5125-5127)aAa>aTa	p.K1709I	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1709						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CACAAGAGATTTTCCAGGAAT	0.443																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(5125-5127)aAa>aTa		HEAT repeat containing 5B							126.0	119.0	121.0					2																	37229640		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37229640T>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5126A>T	2.37:g.37229640T>A	ENSP00000233099:p.Lys1709Ile					HEATR5B_ENST00000354531.2_Intron	p.K1709I	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			32	5221	-		all_hematologic(82;0.21)	1709					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.5126A>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.356026	0.82243	.	.	ENSG00000008869	ENST00000233099	T	0.60548	0.18	5.43	5.43	0.79202	Armadillo-type fold (1);	0.047417	0.85682	D	0.000000	T	0.68238	0.2979	L	0.60455	1.87	0.80722	D	1	P;P	0.52577	0.954;0.954	P;P	0.59056	0.851;0.851	T	0.64740	-0.6336	10	0.27082	T	0.32	-13.4007	15.6454	0.77046	0.0:0.0:0.0:1.0	.	1709;1709	Q9P2D3;B9EK47	HTR5B_HUMAN;.	I	1709	ENSP00000233099:K1709I	ENSP00000233099:K1709I	K	-	2	0	HEATR5B	37083144	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	4.605000	0.61119	2.279000	0.76181	0.533000	0.62120	AAA		0.443	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		33	69	0	0	0	1	0	33	69				
CTNNA1	1495	broad.mit.edu	37	5	138221913	138221913	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr5:138221913G>C	ENST00000302763.7	+	8	1165	c.1075G>C	c.(1075-1077)Gaa>Caa	p.E359Q	CTNNA1_ENST00000355078.5_Missense_Mutation_p.E256Q|CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.E359Q|CTNNA1_ENST00000540387.1_5'UTR	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	359	Interaction with alpha-actinin.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGACGTAAAGAAAGAAGTGA	0.378																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(1075-1077)Gaa>Caa		catenin (cadherin-associated protein), alpha 1, 102kDa							126.0	131.0	130.0					5																	138221913		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138221913G>C	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1075G>C	5.37:g.138221913G>C	ENSP00000304669:p.Glu359Gln					CTNNA1_ENST00000355078.5_Missense_Mutation_p.E256Q|CTNNA1_ENST00000540387.1_5'UTR|CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.E359Q	p.E359Q	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		8	1165	+			359			Interaction with alpha-actinin.		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.1075G>C	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427585	0.62733	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.37752	1.18;1.18;1.18	5.82	4.95	0.65309	.	0.147058	0.64402	D	0.000011	T	0.36690	0.0976	L	0.56769	1.78	0.80722	D	1	B;B;B	0.23891	0.093;0.002;0.005	B;B;B	0.25614	0.062;0.032;0.021	T	0.12091	-1.0561	10	0.29301	T	0.29	-22.3386	14.5986	0.68424	0.0704:0.0:0.9296:0.0	.	359;236;359	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	Q	256;359;359;344;359	ENSP00000347190:E256Q;ENSP00000304669:E359Q;ENSP00000427821:E359Q	ENSP00000304669:E359Q	E	+	1	0	CTNNA1	138249812	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.758000	0.98927	1.473000	0.48159	-0.140000	0.14226	GAA		0.378	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		36	33	0	0	0	1	0	36	33				
PDS5B	23047	broad.mit.edu	37	13	33332780	33332780	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr13:33332780C>A	ENST00000315596.10	+	28	3484	c.3298C>A	c.(3298-3300)Caa>Aaa	p.Q1100K		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1100					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTTCTTCACTCAACCTGACAA	0.383																																						ENST00000315596.10																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(3298-3300)Caa>Aaa		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							120.0	114.0	116.0					13																	33332780		1846	4083	5929	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33332780C>A	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3298C>A	13.37:g.33332780C>A	ENSP00000313851:p.Gln1100Lys						p.Q1100K	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	28	3484	+		Lung SC(185;0.0367)	1100					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.3298C>A	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419317	0.42918	.	.	ENSG00000083642	ENST00000315596;ENST00000421084;ENST00000447833	.	.	.	5.54	5.54	0.83059	.	0.051655	0.85682	D	0.000000	T	0.36963	0.0986	N	0.08118	0	0.58432	D	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.35773	-0.9775	9	0.05959	T	0.93	-21.0431	19.4769	0.94992	0.0:1.0:0.0:0.0	.	1100	Q9NTI5	PDS5B_HUMAN	K	1100;1100;54	.	ENSP00000313851:Q1100K	Q	+	1	0	PDS5B	32230780	1.000000	0.71417	0.929000	0.37066	0.960000	0.62799	6.002000	0.70693	2.607000	0.88179	0.467000	0.42956	CAA		0.383	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		40	96	1	0	1.32136e-16	1	1.46293e-16	40	96				
GJC1	10052	broad.mit.edu	37	17	42882287	42882287	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr17:42882287T>A	ENST00000426548.1	-	3	1168	c.899A>T	c.(898-900)cAg>cTg	p.Q300L	GJC1_ENST00000590758.1_Missense_Mutation_p.Q300L|GJC1_ENST00000330514.4_Missense_Mutation_p.Q300L|GJC1_ENST00000592524.1_Missense_Mutation_p.Q300L	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	300					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TTCGGTGTACTGGATTTGATC	0.488																																						ENST00000426548.1																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(898-900)cAg>cTg		gap junction protein, gamma 1, 45kDa							206.0	198.0	201.0					17																	42882287		2203	4300	6503	SO:0001583	missense	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882287T>A	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.899A>T	17.37:g.42882287T>A	ENSP00000411528:p.Gln300Leu					GJC1_ENST00000330514.4_Missense_Mutation_p.Q300L|GJC1_ENST00000592524.1_Missense_Mutation_p.Q300L|GJC1_ENST00000590758.1_Missense_Mutation_p.Q300L	p.Q300L	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN			3	1168	-		Prostate(33;0.0959)	300					B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	c.899A>T	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	T	9.910	1.209175	0.22205	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	T;T	0.80994	-1.44;-1.44	5.48	4.33	0.51752	.	0.209131	0.43919	D	0.000509	T	0.62208	0.2409	N	0.08118	0	0.46279	D	0.998963	B	0.06786	0.001	B	0.04013	0.001	T	0.59069	-0.7523	10	0.33940	T	0.23	.	11.4607	0.50208	0.0:0.0:0.1504:0.8496	.	300	P36383	CXG1_HUMAN	L	300	ENSP00000411528:Q300L;ENSP00000333193:Q300L	ENSP00000333193:Q300L	Q	-	2	0	GJC1	40237813	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.414000	0.59802	2.077000	0.62373	0.533000	0.62120	CAG		0.488	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		70	158	0	0	0	1	0	70	158				
MEX3B	84206	broad.mit.edu	37	15	82336850	82336850	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:82336850C>G	ENST00000329713.4	-	2	796	c.361G>C	c.(361-363)Gcc>Ccc	p.A121P	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	121	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CGAGCCATGGCCACATCCTCC	0.592																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(361-363)Gcc>Ccc		mex-3 RNA binding family member B							55.0	54.0	54.0					15																	82336850		2203	4300	6503	SO:0001583	missense	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336850C>G	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.361G>C	15.37:g.82336850C>G	ENSP00000329918:p.Ala121Pro					MEX3B_ENST00000558133.1_3'UTR	p.A121P	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	796	-			121			KH 1.		Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	ENST00000329713.4	37	c.361G>C	CCDS10319.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197180	0.79015	.	.	ENSG00000183496	ENST00000329713	T	0.32023	1.47	4.41	4.41	0.53225	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	L	0.38175	1.15	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.28170	-1.0052	10	0.39692	T	0.17	-24.791	15.9129	0.79485	0.0:1.0:0.0:0.0	.	121	Q6ZN04	MEX3B_HUMAN	P	121	ENSP00000329918:A121P	ENSP00000329918:A121P	A	-	1	0	MEX3B	80123905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.021000	0.76425	2.291000	0.77112	0.491000	0.48974	GCC		0.592	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		54	38	0	0	0	1	0	54	38				
ZBBX	79740	broad.mit.edu	37	3	167031787	167031787	+	Silent	SNP	A	A	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:167031787A>G	ENST00000392766.2	-	16	1732	c.1392T>C	c.(1390-1392)tcT>tcC	p.S464S	ZBBX_ENST00000392764.1_Silent_p.S435S|ZBBX_ENST00000392767.2_Silent_p.S464S|ZBBX_ENST00000455345.2_Silent_p.S464S|ZBBX_ENST00000307529.5_Silent_p.S464S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	464						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TATAATAAGTAGAGCTGTTTC	0.308																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1390-1392)tcT>tcC		zinc finger, B-box domain containing							113.0	109.0	111.0					3																	167031787		1806	4072	5878	SO:0001819	synonymous_variant	79740					intracellular	zinc ion binding	g.chr3:167031787A>G	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1392T>C	3.37:g.167031787A>G						ZBBX_ENST00000392767.2_Silent_p.S464S|ZBBX_ENST00000307529.5_Silent_p.S464S|ZBBX_ENST00000392764.1_Silent_p.S435S|ZBBX_ENST00000455345.2_Silent_p.S464S	p.S464S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			16	1732	-			464					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	c.1392T>C	CCDS3199.2																																																																																				0.308	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		65	160	0	0	0	1	0	65	160				
DMKN	93099	broad.mit.edu	37	19	36003524	36003524	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:36003524C>T	ENST00000339686.3	-	2	771	c.595G>A	c.(595-597)Gga>Aga	p.G199R	DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.G199R|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.G199R|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.G199R|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000429837.1_Missense_Mutation_p.G199R|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.G199R|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.G199R|DMKN_ENST00000419602.1_Missense_Mutation_p.G199R|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000436012.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	199	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGTGGCCCTCCATTGCCTCCT	0.612																																						ENST00000339686.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27						c.(595-597)Gga>Aga		dermokine							109.0	116.0	114.0					19																	36003524		2203	4300	6503	SO:0001583	missense	93099					extracellular region		g.chr19:36003524C>T	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.595G>A	19.37:g.36003524C>T	ENSP00000342012:p.Gly199Arg					DMKN_ENST00000440396.1_Missense_Mutation_p.G199R|DMKN_ENST00000424570.2_Missense_Mutation_p.G199R|DMKN_ENST00000419602.1_Missense_Mutation_p.G199R|DMKN_ENST00000451297.2_Missense_Mutation_p.G199R|DMKN_ENST00000447113.2_Missense_Mutation_p.G199R|DMKN_ENST00000429837.1_Missense_Mutation_p.G199R|DMKN_ENST00000418261.1_Missense_Mutation_p.G199R	p.G199R	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	771	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		199			Gly-rich.		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	c.595G>A	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678055	0.47886	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T;T;T	0.55052	1.25;1.87;1.03;0.54;0.62;0.66;0.66;0.73	4.49	2.36	0.29203	.	0.203139	0.24710	N	0.036236	T	0.39253	0.1071	L	0.42245	1.32	0.09310	N	1	P;B;B;P;P;B;B	0.40731	0.728;0.385;0.385;0.728;0.539;0.215;0.215	B;B;B;B;B;B;B	0.37451	0.25;0.25;0.25;0.25;0.112;0.068;0.068	T	0.21143	-1.0254	10	0.44086	T	0.13	-4.6009	7.0994	0.25327	0.0:0.7947:0.0:0.2053	.	199;199;199;199;199;199;199	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4	.;.;.;.;.;.;DMKN_HUMAN	R	199	ENSP00000342012:G199R;ENSP00000405503:G199R;ENSP00000391036:G199R;ENSP00000394908:G199R;ENSP00000415277:G199R;ENSP00000414743:G199R;ENSP00000388404:G199R;ENSP00000409513:G199R	ENSP00000342012:G199R	G	-	1	0	DMKN	40695364	0.002000	0.14202	0.001000	0.08648	0.010000	0.07245	0.724000	0.25954	0.634000	0.30469	0.655000	0.94253	GGA		0.612	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		37	58	0	0	0	1	0	37	58				
SLC22A11	55867	broad.mit.edu	37	11	64335076	64335076	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr11:64335076C>T	ENST00000301891.4	+	7	1438	c.1064C>T	c.(1063-1065)tCt>tTt	p.S355F	SLC22A11_ENST00000377585.3_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.S355F	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	355					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CGCAGTTTCTCTCTATTGATC	0.637																																						ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1063-1065)tCt>tTt		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						84.0	96.0	92.0					11																	64335076		2195	4296	6491	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64335076C>T	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1064C>T	11.37:g.64335076C>T	ENSP00000301891:p.Ser355Phe					SLC22A11_ENST00000377581.3_Missense_Mutation_p.S355F|SLC22A11_ENST00000377585.3_Intron	p.S355F	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			7	1438	+			355					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.1064C>T	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	C	9.051	0.992131	0.18966	.	.	ENSG00000168065	ENST00000301891;ENST00000377581;ENST00000416590	T;T;T	0.75821	-0.62;-0.62;-0.97	3.06	-1.83	0.07833	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.076066	0.53938	N	0.000045	T	0.60971	0.2310	L	0.42487	1.325	0.09310	N	1	B;B	0.23990	0.053;0.095	B;B	0.28139	0.06;0.086	T	0.51787	-0.8661	10	0.49607	T	0.09	.	6.7297	0.23377	0.0:0.349:0.5331:0.1179	.	355;355	A6NCG2;Q9NSA0	.;S22AB_HUMAN	F	355;355;2	ENSP00000301891:S355F;ENSP00000366804:S355F;ENSP00000413508:S2F	ENSP00000301891:S355F	S	+	2	0	SLC22A11	64091652	0.382000	0.25148	0.000000	0.03702	0.015000	0.08874	0.815000	0.27253	-0.539000	0.06273	0.505000	0.49811	TCT		0.637	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		53	100	0	0	0	1	0	53	100				
ENOSF1	55556	broad.mit.edu	37	18	678725	678725	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr18:678725A>T	ENST00000251101.7	-	12	977	c.889T>A	c.(889-891)Tta>Ata	p.L297I	ENOSF1_ENST00000383578.3_Missense_Mutation_p.L215I|ENOSF1_ENST00000319815.6_Missense_Mutation_p.L67I|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000580982.1_Missense_Mutation_p.L221I|ENOSF1_ENST00000340116.7_Intron	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	297					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CCAATTCCTAATGGGACCAGT	0.478																																						ENST00000319815.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(199-201)Tta>Ata		enolase superfamily member 1							154.0	136.0	143.0					18																	678725		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:678725A>T	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.889T>A	18.37:g.678725A>T	ENSP00000251101:p.Leu297Ile					ENOSF1_ENST00000251101.7_Missense_Mutation_p.L297I|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000580982.1_Missense_Mutation_p.L221I|ENOSF1_ENST00000383578.3_Missense_Mutation_p.L215I|ENOSF1_ENST00000340116.7_Intron	p.L67I			Q7L5Y1	ENOF1_HUMAN			4	1463	-			297					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.199T>A	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	A	10.74	1.434494	0.25813	.	.	ENSG00000132199	ENST00000383578;ENST00000319815;ENST00000251101	T;T;T	0.44482	0.92;0.92;0.92	5.8	-4.82	0.03171	.	.	.	.	.	T	0.24928	0.0605	N	0.08118	0	0.80722	D	1	B;B;B	0.13145	0.003;0.007;0.005	B;B;B	0.28709	0.036;0.093;0.056	T	0.07616	-1.0763	9	0.22706	T	0.39	.	19.2388	0.93873	0.2416:0.0:0.7584:0.0	.	116;297;215	B3KXE4;Q7L5Y1;Q7L5Y1-2	.;ENOF1_HUMAN;.	I	215;67;297	ENSP00000373072:L215I;ENSP00000313346:L67I;ENSP00000251101:L297I	ENSP00000251101:L297I	L	-	1	2	ENOSF1	668725	0.002000	0.14202	0.004000	0.12327	0.376000	0.30014	-0.205000	0.09411	-1.153000	0.02829	0.533000	0.62120	TTA		0.478	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		4	150	0	0	0	1	0	4	150				
IL12RB2	3595	broad.mit.edu	37	1	67855743	67855743	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:67855743C>T	ENST00000262345.1	+	15	2618	c.1978C>T	c.(1978-1980)Cag>Tag	p.Q660*	IL12RB2_ENST00000541374.1_Intron|IL12RB2_ENST00000371000.1_Intron|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Nonsense_Mutation_p.Q574*	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	660					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CCTCAGACCTCAGTGGTGTAG	0.463																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(1978-1980)Cag>Tag		interleukin 12 receptor, beta 2							122.0	117.0	119.0					1																	67855743		2203	4300	6503	SO:0001587	stop_gained	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67855743C>T	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1978C>T	1.37:g.67855743C>T	ENSP00000262345:p.Gln660*					IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000541374.1_Intron|IL12RB2_ENST00000544434.1_Nonsense_Mutation_p.Q574*|IL12RB2_ENST00000371000.1_Intron	p.Q660*	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			15	2618	+			660					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Nonsense_Mutation	SNP	ENST00000262345.1	37	c.1978C>T	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	37	6.253599	0.97417	.	.	ENSG00000081985	ENST00000262345;ENST00000544434	.	.	.	5.43	5.43	0.79202	.	0.290029	0.29638	N	0.011592	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-6.8327	15.1344	0.72552	0.0:1.0:0.0:0.0	.	.	.	.	X	660;574	.	ENSP00000262345:Q660X	Q	+	1	0	IL12RB2	67628331	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	3.731000	0.55013	2.713000	0.92767	0.655000	0.94253	CAG		0.463	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		24	51	0	0	0	1	0	24	51				
SIM2	6493	broad.mit.edu	37	21	38084919	38084919	+	Silent	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr21:38084919C>G	ENST00000290399.6	+	3	958	c.345C>G	c.(343-345)tcC>tcG	p.S115S	SIM2_ENST00000430056.3_Silent_p.S115S	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	115	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TAGGCTTATCCCAGGTGGGTA	0.378																																						ENST00000290399.6																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(343-345)tcC>tcG		single-minded family bHLH transcription factor 2							140.0	123.0	129.0					21																	38084919		2203	4300	6503	SO:0001819	synonymous_variant	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38084919C>G		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.345C>G	21.37:g.38084919C>G						SIM2_ENST00000430056.3_Silent_p.S115S	p.S115S	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			3	958	+			115			PAS 1.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Silent	SNP	ENST00000290399.6	37	c.345C>G	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	C	8.607	0.888255	0.17540	.	.	ENSG00000159263	ENST00000431229	.	.	.	5.42	-5.18	0.02840	.	.	.	.	.	T	0.36220	0.0959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37244	-0.9714	4	.	.	.	.	1.6212	0.02713	0.1636:0.3429:0.2399:0.2536	.	.	.	.	A	53	.	.	P	+	1	0	SIM2	37006789	0.000000	0.05858	0.932000	0.37286	0.838000	0.47535	-2.610000	0.00885	-0.891000	0.03940	0.655000	0.94253	CCA		0.378	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		34	57	0	0	0	1	0	34	57				
RYR2	6262	broad.mit.edu	37	1	237794734	237794734	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:237794734A>C	ENST00000366574.2	+	42	6765	c.6448A>C	c.(6448-6450)Atg>Ctg	p.M2150L	RYR2_ENST00000360064.6_Missense_Mutation_p.M2148L|RYR2_ENST00000542537.1_Missense_Mutation_p.M2134L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2150	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAGGGATATTATGAATAACAA	0.413																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6448-6450)Atg>Ctg		ryanodine receptor 2 (cardiac)							84.0	83.0	83.0					1																	237794734		1954	4175	6129	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237794734A>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6448A>C	1.37:g.237794734A>C	ENSP00000355533:p.Met2150Leu					RYR2_ENST00000360064.6_Missense_Mutation_p.M2148L|RYR2_ENST00000542537.1_Missense_Mutation_p.M2134L	p.M2150L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		42	6765	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2150			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6448A>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.168842	0.78339	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95377	-3.69;-3.69;-3.69	5.43	5.43	0.79202	Intracellular calcium-release channel (1);	0.066142	0.56097	D	0.000028	D	0.96200	0.8761	M	0.68952	2.095	0.80722	D	1	P	0.40211	0.707	P	0.49853	0.624	D	0.96634	0.9469	10	0.72032	D	0.01	-19.5085	15.7731	0.78187	1.0:0.0:0.0:0.0	.	2150	Q92736	RYR2_HUMAN	L	2150;2148;2134	ENSP00000355533:M2150L;ENSP00000353174:M2148L;ENSP00000443798:M2134L	ENSP00000353174:M2148L	M	+	1	0	RYR2	235861357	1.000000	0.71417	0.999000	0.59377	0.523000	0.34469	9.287000	0.95975	2.183000	0.69458	0.528000	0.53228	ATG		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	16	0	0	0	1	0	4	16				
RHBDF1	64285	broad.mit.edu	37	16	110267	110267	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:110267C>T	ENST00000262316.6	-	13	1811	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	557					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GAGGAGGGCTCATCACACACC	0.602																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(1669-1671)Gag>Aag		rhomboid 5 homolog 1 (Drosophila)							91.0	82.0	85.0					16																	110267		2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:110267C>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1669G>A	16.37:g.110267C>T	ENSP00000262316:p.Glu557Lys						p.E557K	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			13	1811	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	557					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.1669G>A	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	17.96	3.515186	0.64634	.	.	ENSG00000007384	ENST00000262316	T	0.51071	0.72	5.16	5.16	0.70880	.	0.057813	0.64402	D	0.000002	T	0.42877	0.1222	L	0.54323	1.7	0.80722	D	1	B	0.19331	0.035	B	0.22753	0.041	T	0.27123	-1.0083	10	0.16420	T	0.52	-27.8408	14.0919	0.64995	0.0:0.8373:0.1627:0.0	.	557	Q96CC6	RHDF1_HUMAN	K	557	ENSP00000262316:E557K	ENSP00000262316:E557K	E	-	1	0	RHBDF1	50267	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.065000	0.64344	2.419000	0.82065	0.655000	0.94253	GAG		0.602	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		23	33	0	0	0	1	0	23	33				
LRIG2	9860	broad.mit.edu	37	1	113653031	113653031	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:113653031G>T	ENST00000361127.5	+	13	1843	c.1645G>T	c.(1645-1647)Gtt>Ttt	p.V549F	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	549	Ig-like C2-type 1.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGAGAATTTTGTTCGTTATTG	0.423																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(1645-1647)Gtt>Ttt		leucine-rich repeats and immunoglobulin-like domains 2							189.0	179.0	183.0					1																	113653031		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113653031G>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1645G>T	1.37:g.113653031G>T	ENSP00000355396:p.Val549Phe					LRIG2_ENST00000492207.1_3'UTR	p.V549F	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	13	1843	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	549			Ig-like C2-type 1.		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.1645G>T	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	g	18.53	3.644836	0.67358	.	.	ENSG00000198799	ENST00000361127	T	0.38887	1.11	5.89	5.89	0.94794	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.180444	0.47455	D	0.000230	T	0.39655	0.1086	L	0.45581	1.43	0.58432	D	0.999998	P	0.34757	0.467	P	0.46419	0.516	T	0.10590	-1.0623	10	0.23302	T	0.38	.	20.2617	0.98447	0.0:0.0:1.0:0.0	.	549	O94898	LRIG2_HUMAN	F	549	ENSP00000355396:V549F	ENSP00000355396:V549F	V	+	1	0	LRIG2	113454554	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.414000	0.97362	2.793000	0.96121	0.655000	0.94253	GTT		0.423	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		60	127	1	0	2.93687e-30	1	3.45733e-30	60	127				
TTC21A	199223	broad.mit.edu	37	3	39167822	39167822	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:39167822A>G	ENST00000431162.2	+	12	1621	c.1487A>G	c.(1486-1488)aAa>aGa	p.K496R	TTC21A_ENST00000301819.6_Missense_Mutation_p.K496R|TTC21A_ENST00000440121.1_Missense_Mutation_p.K447R			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	496										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTGTAGTCAAAGCAGCACCA	0.567																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(1486-1488)aAa>aGa		tetratricopeptide repeat domain 21A							134.0	138.0	136.0					3																	39167822		1995	4177	6172	SO:0001583	missense	199223						binding	g.chr3:39167822A>G	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1487A>G	3.37:g.39167822A>G	ENSP00000398211:p.Lys496Arg					TTC21A_ENST00000440121.1_Missense_Mutation_p.K447R|TTC21A_ENST00000431162.2_Missense_Mutation_p.K496R	p.K496R	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	12	1664	+			496					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.1487A>G	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.994932	0.35226	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.61627	1.14;0.09;0.18	5.6	4.44	0.53790	.	0.090669	0.48767	D	0.000164	T	0.46171	0.1379	L	0.47190	1.495	0.30411	N	0.779044	B;B;B	0.18610	0.029;0.023;0.013	B;B;B	0.18561	0.022;0.016;0.007	T	0.42816	-0.9429	10	0.21540	T	0.41	-21.9528	8.1009	0.30857	0.841:0.0:0.159:0.0	.	447;496;496	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	R	496;478;496;447	ENSP00000301819:K496R;ENSP00000398211:K496R;ENSP00000410882:K447R	ENSP00000301819:K496R	K	+	2	0	TTC21A	39142826	1.000000	0.71417	0.029000	0.17559	0.925000	0.55904	2.669000	0.46825	0.956000	0.37904	0.496000	0.49642	AAA		0.567	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		6	76	0	0	0	1	0	6	76				
GNRHR	2798	broad.mit.edu	37	4	68619925	68619925	+	Silent	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr4:68619925G>A	ENST00000226413.4	-	1	153	c.129C>T	c.(127-129)ttC>ttT	p.F43F	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Silent_p.F43F	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	43					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	GAAAAAGGAAGAAAGTAACCG	0.443																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(127-129)ttC>ttT		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						88.0	95.0	93.0					4																	68619925		2203	4300	6503	SO:0001819	synonymous_variant	2798				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68619925G>A		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.129C>T	4.37:g.68619925G>A						GNRHR_ENST00000420975.2_Silent_p.F43F|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA	p.F43F	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			1	153	-			43					O75793|Q14D13|Q92644	Silent	SNP	ENST00000226413.4	37	c.129C>T	CCDS3517.1																																																																																				0.443	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			31	72	0	0	0	1	0	31	72				
TSPEAR	54084	broad.mit.edu	37	21	45929191	45929191	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr21:45929191C>T	ENST00000323084.4	-	10	1710	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	TSPEAR_ENST00000397916.1_Missense_Mutation_p.D481N|TSPEAR-AS1_ENST00000451035.1_RNA|TSPEAR-AS1_ENST00000430181.1_RNA	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	549					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ATCTCCACATCGTAGCTGTGA	0.532																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(1645-1647)Gat>Aat		thrombospondin-type laminin G domain and EAR repeats							207.0	129.0	155.0					21																	45929191		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45929191C>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1645G>A	21.37:g.45929191C>T	ENSP00000321987:p.Asp549Asn					TSPEAR-AS1_ENST00000451035.1_RNA|TSPEAR_ENST00000397916.1_Missense_Mutation_p.D481N	p.D549N	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			10	1710	-			549						Missense_Mutation	SNP	ENST00000323084.4	37	c.1645G>A	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911244	0.33721	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.15603	2.41;2.42	3.98	3.98	0.46160	.	0.224065	0.29040	N	0.013338	T	0.20941	0.0504	L	0.43152	1.355	0.45837	D	0.998702	D	0.53151	0.958	P	0.46940	0.532	T	0.03095	-1.1073	10	0.31617	T	0.26	-3.0049	17.0238	0.86440	0.0:1.0:0.0:0.0	.	549	Q8WU66	TSEAR_HUMAN	N	549;402;481;550	ENSP00000321987:D549N;ENSP00000381012:D481N	ENSP00000321987:D549N	D	-	1	0	TSPEAR	44753619	0.157000	0.22836	0.930000	0.37139	0.134000	0.20937	2.690000	0.47001	2.164000	0.68074	0.558000	0.71614	GAT		0.532	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		16	28	0	0	0	1	0	16	28				
HDAC8	55869	broad.mit.edu	37	X	71694509	71694509	+	Intron	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chrX:71694509C>T	ENST00000373573.3	-	8	1079				HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.S270N|HDAC8_ENST00000439122.2_3'UTR|HDAC8_ENST00000373571.1_Intron|HDAC8_ENST00000373560.2_3'UTR|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373559.4_3'UTR	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8						chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TCAGACAAGGCTATGCAAATG	0.443																																						ENST00000373561.4																			0				breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10						c.(808-810)aGc>aAc		histone deacetylase 8	Vorinostat(DB02546)						83.0	75.0	77.0					X																	71694509		1568	3582	5150	SO:0001627	intron_variant	55869				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chrX:71694509C>T	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"""histone deacetylase-like 1"", ""Wilson-Turner X-linked mental retardation syndrome"""	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.738-9928G>A	X.37:g.71694509C>T						HDAC8_ENST00000373573.3_Intron|HDAC8_ENST00000373560.2_3'UTR|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373571.1_Intron|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000439122.2_3'UTR|HDAC8_ENST00000373559.4_3'UTR	p.S270N			Q9BY41	HDAC8_HUMAN			10	1150	-	Renal(35;0.156)		0			Histone deacetylase.		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	ENST00000373573.3	37	c.809G>A	CCDS14420.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476083	0.26511	.	.	ENSG00000147099	ENST00000373561	T	0.64438	-0.1	4.69	2.82	0.32997	.	.	.	.	.	T	0.57888	0.2084	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.51505	-0.8697	6	0.56958	D	0.05	.	6.2792	0.20997	0.0:0.7291:0.0:0.2709	.	.	.	.	N	270	ENSP00000362662:S270N	ENSP00000362662:S270N	S	-	2	0	HDAC8	71611234	0.187000	0.23238	0.603000	0.28903	0.681000	0.39784	0.442000	0.21628	0.427000	0.26145	-0.190000	0.12839	AGC		0.443	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		15	56	0	0	0	1	0	15	56				
SCN11A	11280	broad.mit.edu	37	3	38938649	38938649	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:38938649G>C	ENST00000302328.3	-	14	2288	c.2090C>G	c.(2089-2091)tCt>tGt	p.S697C	SCN11A_ENST00000456224.3_Missense_Mutation_p.S697C|SCN11A_ENST00000444237.2_Missense_Mutation_p.S697C|SCN11A_ENST00000450244.1_Missense_Mutation_p.S697C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	697					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCTCCGACAGAGTTGCCGAT	0.433																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2089-2091)tCt>tGt		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						53.0	55.0	54.0					3																	38938649		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38938649G>C	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2090C>G	3.37:g.38938649G>C	ENSP00000307599:p.Ser697Cys					SCN11A_ENST00000444237.2_Missense_Mutation_p.S697C|SCN11A_ENST00000450244.1_Missense_Mutation_p.S697C|SCN11A_ENST00000456224.3_Missense_Mutation_p.S697C	p.S697C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	14	2288	-			697					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2090C>G	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644516	0.87859	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.99005	-5.32;-5.32;-5.32;-5.32	5.95	5.95	0.96441	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	H	0.98542	4.26	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.97578	1.0109	10	0.87932	D	0	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	697	Q9UI33	SCNBA_HUMAN	C	697	ENSP00000307599:S697C;ENSP00000400945:S697C;ENSP00000416757:S697C;ENSP00000408028:S697C	ENSP00000307599:S697C	S	-	2	0	SCN11A	38913653	1.000000	0.71417	0.933000	0.37362	0.736000	0.42039	9.813000	0.99286	2.827000	0.97445	0.650000	0.86243	TCT		0.433	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		31	38	0	0	0	1	0	31	38				
CACNA1B	774	broad.mit.edu	37	9	140990941	140990941	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr9:140990941G>C	ENST00000371372.1	+	37	5245	c.5100G>C	c.(5098-5100)ttG>ttC	p.L1700F	CACNA1B_ENST00000371363.1_Missense_Mutation_p.L1698F|CACNA1B_ENST00000371365.2_Missense_Mutation_p.L64F|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L1701F|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L1699F|CACNA1B_ENST00000277549.5_Missense_Mutation_p.L894F|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L1700F	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1700					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCAGATGTTGAACCTCTTTG	0.572																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(2680-2682)ttG>ttC		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						136.0	139.0	138.0					9																	140990941		2166	4284	6450	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140990941G>C	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5100G>C	9.37:g.140990941G>C	ENSP00000360423:p.Leu1700Phe					CACNA1B_ENST00000371363.1_Missense_Mutation_p.L1698F|CACNA1B_ENST00000371365.2_Missense_Mutation_p.L64F|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L1701F|CACNA1B_ENST00000371372.1_Missense_Mutation_p.L1700F|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L1699F|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L1700F	p.L894F			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	37	5251	+	all_cancers(76;0.166)		1700					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.2682G>C	CCDS59522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.21|18.21	3.572834|3.572834	0.65765|0.65765	.|.	.|.	ENSG00000148408|ENSG00000148408	ENST00000413253|ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371365	.|D;D;D;D;D;D;D	.|0.98849	.|-5.18;-5.18;-5.18;-5.18;-5.18;-5.18;-5.18	4.44|4.44	3.54|3.54	0.40534|0.40534	.|.	.|0.087235	.|0.48286	.|D	.|0.000200	D|D	0.99149|0.99149	0.9706|0.9706	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.99501|0.99501	1.0953|1.0953	5|10	.|0.87932	.|D	.|0	.|.	12.5728|12.5728	0.56347|0.56347	0.0814:0.0:0.9186:0.0|0.0814:0.0:0.9186:0.0	.|.	.|1699;1698	.|B1AQK7;B1AQK6	.|.;.	Q|F	65|1700;1700;894;1698;1699;1701;64	.|ENSP00000360423:L1700F;ENSP00000277551:L1700F;ENSP00000277549:L894F;ENSP00000360414:L1698F;ENSP00000360408:L1699F;ENSP00000360406:L1701F;ENSP00000360416:L64F	.|ENSP00000277549:L894F	E|L	+|+	1|3	0|2	CACNA1B|CACNA1B	140110762|140110762	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.709000|2.709000	0.47160|0.47160	1.006000|1.006000	0.39211|0.39211	0.557000|0.557000	0.71058|0.71058	GAA|TTG		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		25	68	0	0	0	1	0	25	68				
ARMC4	55130	broad.mit.edu	37	10	28233203	28233203	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:28233203T>A	ENST00000305242.5	-	12	1783	c.1691A>T	c.(1690-1692)aAg>aTg	p.K564M	ARMC4_ENST00000545014.1_Missense_Mutation_p.K89M|ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000537576.1_Missense_Mutation_p.K256M	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	564					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCTTTTAAACTTGGCAACATT	0.498																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(1690-1692)aAg>aTg		armadillo repeat containing 4							70.0	59.0	63.0					10																	28233203		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28233203T>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1691A>T	10.37:g.28233203T>A	ENSP00000306410:p.Lys564Met					ARMC4_ENST00000545014.1_Missense_Mutation_p.K89M|ARMC4_ENST00000537576.1_Missense_Mutation_p.K256M	p.K564M	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			12	1783	-			564					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.1691A>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247495	0.59103	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.49720	0.77;0.77;0.77	5.34	5.34	0.76211	Armadillo-like helical (1);Armadillo-type fold (1);	0.178906	0.56097	D	0.000022	T	0.46833	0.1413	M	0.77820	2.39	0.80722	D	1	B;P	0.41420	0.444;0.749	B;B	0.35607	0.206;0.206	T	0.56269	-0.8007	10	0.72032	D	0.01	-28.8852	10.3738	0.44071	0.0:0.0835:0.0:0.9165	.	89;564	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	M	256;564;89	ENSP00000443208:K256M;ENSP00000306410:K564M;ENSP00000441076:K89M	ENSP00000306410:K564M	K	-	2	0	ARMC4	28273209	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	1.517000	0.35867	2.157000	0.67596	0.477000	0.44152	AAG		0.498	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		20	31	0	0	0	1	0	20	31				
GOLGA4	2803	broad.mit.edu	37	3	37368468	37368468	+	Silent	SNP	A	A	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:37368468A>T	ENST00000361924.2	+	14	5465	c.5091A>T	c.(5089-5091)tcA>tcT	p.S1697S	GOLGA4_ENST00000356847.4_Silent_p.S1719S|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1697	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AACTTAAGTCAGTGGAAAGTT	0.378																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5089-5091)tcA>tcT		golgin A4							107.0	116.0	113.0					3																	37368468		2201	4297	6498	SO:0001819	synonymous_variant	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37368468A>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5091A>T	3.37:g.37368468A>T						GOLGA4_ENST00000356847.4_Silent_p.S1719S|GOLGA4_ENST00000444882.1_Intron	p.S1697S	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	5465	+			1697			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Silent	SNP	ENST00000361924.2	37	c.5091A>T	CCDS2666.1																																																																																				0.378	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		65	107	0	0	0	1	0	65	107				
SSPO	23145	broad.mit.edu	37	7	149523244	149523244	+	RNA	SNP	C	C	T	rs377248524		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr7:149523244C>T	ENST00000378016.2	+	0	14330							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCAGTTGCTCGGCCCCCTGT	0.647																																						ENST00000378016.2																			0													SCO-spondin		C	LEU/SER	0,3944		0,0,1972	40.0	48.0	46.0		14346	3.7	0.6	7		46	3,8287		0,3,4142	no	missense	SSPO	NM_198455.2	145	0,3,6114	TT,TC,CC		0.0362,0.0,0.0245	possibly-damaging	4776/5148	149523244	3,12231	1972	4145	6117			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149523244C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149523244C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	14330	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.647	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				53	57	0	0	0	1	0	53	57				
CWF19L2	143884	broad.mit.edu	37	11	107219718	107219718	+	Nonsense_Mutation	SNP	A	A	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr11:107219718A>T	ENST00000282251.5	-	14	2174	c.2147T>A	c.(2146-2148)tTg>tAg	p.L716*	CWF19L2_ENST00000433523.1_Nonsense_Mutation_p.L716*	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	716							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATGGTGCTGCAAAGGGACTAT	0.388																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(2146-2148)tTg>tAg		CWF19-like 2, cell cycle control (S. pombe)							74.0	73.0	73.0					11																	107219718		2201	4298	6499	SO:0001587	stop_gained	143884						catalytic activity	g.chr11:107219718A>T	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2147T>A	11.37:g.107219718A>T	ENSP00000282251:p.Leu716*					CWF19L2_ENST00000433523.1_Nonsense_Mutation_p.L716*	p.L716*	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	14	2174	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	716					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Nonsense_Mutation	SNP	ENST00000282251.5	37	c.2147T>A	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	A	38	6.982877	0.97979	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	.	.	.	5.86	5.86	0.93980	.	0.063638	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-10.9243	15.448	0.75248	1.0:0.0:0.0:0.0	.	.	.	.	X	716	.	ENSP00000282251:L716X	L	-	2	0	CWF19L2	106724928	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.200000	0.95010	2.240000	0.73641	0.533000	0.62120	TTG		0.388	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		12	29	0	0	0	1	0	12	29				
PLEKHA6	22874	broad.mit.edu	37	1	204210863	204210863	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:204210863A>C	ENST00000272203.3	-	16	2568	c.2252T>G	c.(2251-2253)gTg>gGg	p.V751G	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.V771G	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	751										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCTGGTGGGCACAAGGCTGAT	0.542																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2251-2253)gTg>gGg		pleckstrin homology domain containing, family A member 6							130.0	122.0	125.0					1																	204210863		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204210863A>C	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2252T>G	1.37:g.204210863A>C	ENSP00000272203:p.Val751Gly					PLEKHA6_ENST00000414478.1_Missense_Mutation_p.V771G	p.V751G	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		16	2568	-	all_cancers(21;0.0222)|Breast(84;0.179)		751					A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.2252T>G	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	A	8.656	0.899445	0.17686	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.09911	2.93;3.39	5.53	1.98	0.26296	.	2.040100	0.01795	N	0.032526	T	0.06142	0.0159	N	0.08118	0	0.44500	D	0.997441	B	0.18166	0.026	B	0.20767	0.031	T	0.37753	-0.9692	10	0.13853	T	0.58	-0.8281	4.9288	0.13907	0.6763:0.1585:0.1652:0.0	.	751	Q9Y2H5	PKHA6_HUMAN	G	751;771	ENSP00000272203:V751G;ENSP00000402046:V771G	ENSP00000272203:V751G	V	-	2	0	PLEKHA6	202477486	0.213000	0.23551	0.997000	0.53966	0.963000	0.63663	0.406000	0.21032	0.386000	0.24997	0.528000	0.53228	GTG		0.542	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		38	54	0	0	0	1	0	38	54				
CRISP1	167	broad.mit.edu	37	6	49819806	49819806	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr6:49819806T>A	ENST00000335847.4	-	3	204	c.103A>T	c.(103-105)Acc>Tcc	p.T35S	CRISP1_ENST00000505118.1_Missense_Mutation_p.T35S|CRISP1_ENST00000355791.2_Missense_Mutation_p.T35S|CRISP1_ENST00000329411.5_Missense_Mutation_p.T35S|CRISP1_ENST00000536021.1_Missense_Mutation_p.T35S|CRISP1_ENST00000507853.1_Missense_Mutation_p.T35S	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	35					binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGCAAGTCGGTGACGAGCTTA	0.373																																						ENST00000335847.4																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(103-105)Acc>Tcc		cysteine-rich secretory protein 1							197.0	193.0	195.0					6																	49819806		2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49819806T>A	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.103A>T	6.37:g.49819806T>A	ENSP00000338276:p.Thr35Ser					CRISP1_ENST00000536021.1_Missense_Mutation_p.T35S|CRISP1_ENST00000355791.2_Missense_Mutation_p.T35S|CRISP1_ENST00000507853.1_Missense_Mutation_p.T35S|CRISP1_ENST00000505118.1_Missense_Mutation_p.T35S|CRISP1_ENST00000329411.5_Missense_Mutation_p.T35S	p.T35S	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN			3	204	-	Lung NSC(77;0.0358)		35					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.103A>T	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.418886	0.62622	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0;3.0	5.06	5.06	0.68205	CAP domain (2);	0.146395	0.47093	D	0.000253	T	0.19005	0.0456	M	0.76727	2.345	0.09310	N	1	D;D	0.89917	1.0;0.991	D;P	0.72338	0.977;0.745	T	0.04840	-1.0923	9	.	.	.	.	11.1358	0.48373	0.0:0.0:0.0:1.0	.	35;35	P54107-2;P54107	.;CRIS1_HUMAN	S	35	ENSP00000425020:T35S;ENSP00000338276:T35S;ENSP00000348044:T35S;ENSP00000331317:T35S;ENSP00000427589:T35S;ENSP00000441798:T35S	.	T	-	1	0	CRISP1	49927765	0.845000	0.29573	0.026000	0.17262	0.014000	0.08584	3.813000	0.55636	2.134000	0.65973	0.533000	0.62120	ACC		0.373	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		42	103	0	0	0	1	0	42	103				
FAF1	11124	broad.mit.edu	37	1	51049377	51049377	+	Silent	SNP	G	G	A	rs140546895	byFrequency	TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:51049377G>A	ENST00000396153.2	-	11	1429	c.978C>T	c.(976-978)aaC>aaT	p.N326N	RNU6-1026P_ENST00000384465.1_RNA|FAF1_ENST00000371778.4_Silent_p.N326N|FAF1_ENST00000545823.1_Silent_p.N84N|FAF1_ENST00000472808.1_5'UTR	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	326					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.N326N(1)|p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CATTTTCTGCGTTTTCTGGCA	0.294													G|||	4	0.000798722	0.003	0.0	5008	,	,		15467	0.0		0.0	False		,,,				2504	0.0					ENST00000396153.2																			2	Whole gene deletion(1)|Substitution - coding silent(1)	p.N326N(1)|p.0?(1)	thyroid(1)|large_intestine(1)	breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(976-978)aaC>aaT		Fas (TNFRSF6) associated factor 1		G		5,4399	9.9+/-24.2	0,5,2197	106.0	109.0	108.0		978	2.4	1.0	1	dbSNP_134	108	0,8592		0,0,4296	no	coding-synonymous	FAF1	NM_007051.2		0,5,6493	AA,AG,GG		0.0,0.1135,0.0385		326/651	51049377	5,12991	2202	4296	6498	SO:0001819	synonymous_variant	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51049377G>A	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.978C>T	1.37:g.51049377G>A						FAF1_ENST00000545823.1_Silent_p.N84N|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Silent_p.N326N	p.N326N	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	11	1429	-			326					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Silent	SNP	ENST00000396153.2	37	c.978C>T	CCDS554.1																																																																																				0.294	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		21	21	0	0	0	1	0	21	21				
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr21:11058168A>T	ENST00000470054.1	-	0	479							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							100.0	79.0	86.0					21																	11058168		692	1591	2283			85319							g.chr21:11058168A>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058168A>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	479	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	128	0	0	0	1	0	4	128				
OR4D10	390197	broad.mit.edu	37	11	59245335	59245335	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr11:59245335A>G	ENST00000530162.1	+	1	490	c.433A>G	c.(433-435)Aca>Gca	p.T145A		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	145						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(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATTGGGCTCACAGTGGCTGC	0.512																																						ENST00000530162.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(433-435)Aca>Gca		olfactory receptor, family 4, subfamily D, member 10							86.0	89.0	88.0					11																	59245335		2200	4295	6495	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245335A>G	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.433A>G	11.37:g.59245335A>G	ENSP00000436424:p.Thr145Ala						p.T145A	NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN			1	490	+			145					B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.433A>G	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	A	3.782	-0.045433	0.07452	.	.	ENSG00000254466	ENST00000530162	T	0.35973	1.28	4.71	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.13415	0.0325	N	0.01152	-0.98	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.07290	-1.0780	9	0.59425	D	0.04	.	6.4639	0.21971	0.7509:0.1595:0.0896:0.0	.	145	Q8NGI6	OR4DA_HUMAN	A	145	ENSP00000436424:T145A	ENSP00000436424:T145A	T	+	1	0	OR4D10	59001911	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.474000	0.22148	1.873000	0.54277	0.533000	0.62120	ACA		0.512	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		43	76	0	0	0	1	0	43	76				
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1789-1791)cAg>cTg		mastermind-like domain containing 1							67.0	59.0	62.0					X																	149639635		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639635A>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu					MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L	p.Q597L			Q13495	MAMD1_HUMAN			4	2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		597			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1790A>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG		0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		5	132	0	0	0	1	0	5	132				
MAGEA12	4111	broad.mit.edu	37	X	151896589	151896589	+	IGR	SNP	C	C	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chrX:151896589C>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557																																						ENST00000361201.4																			1	Substitution - Missense(1)	p.L11F(1)	kidney(1)	endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	100130935							g.chrX:151896589C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896589C>A								NR_073432.1						0	351	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		5	225	1	0	8.12818e-05	1	8.21653e-05	5	225				
FOXC2	2303	broad.mit.edu	37	16	86601504	86601504	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:86601504C>T	ENST00000320354.4	+	1	648	c.563C>T	c.(562-564)cCg>cTg	p.P188L	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	188					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GAGCCGCCCCCGGCGGCGTCC	0.701									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(562-564)cCg>cTg		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							13.0	18.0	16.0					16																	86601504		1940	3963	5903	SO:0001583	missense	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding	g.chr16:86601504C>T	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.563C>T	16.37:g.86601504C>T	ENSP00000326371:p.Pro188Leu						p.P188L	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	648	+			188					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.563C>T	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	c	5.266	0.234597	0.09969	.	.	ENSG00000176692	ENST00000320354	D	0.95554	-3.74	3.61	3.61	0.41365	.	3.455040	0.01879	U	0.037711	D	0.93145	0.7817	L	0.43152	1.355	0.25000	N	0.991478	B	0.13145	0.007	B	0.08055	0.003	T	0.80037	-0.1550	10	0.23302	T	0.38	.	10.3252	0.43790	0.0:0.7985:0.2015:0.0	.	188	Q99958	FOXC2_HUMAN	L	188	ENSP00000326371:P188L	ENSP00000326371:P188L	P	+	2	0	FOXC2	85159005	0.022000	0.18835	0.383000	0.26132	0.104000	0.19210	0.080000	0.14802	1.868000	0.54150	0.553000	0.69018	CCG		0.701	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		17	37	0	0	0	1	0	17	37				
RASA4B	100271927	broad.mit.edu	37	7	102136604	102136604	+	Missense_Mutation	SNP	C	C	T	rs746316	byFrequency	TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr7:102136604C>T	ENST00000465829.1	-	11	1124	c.1054G>A	c.(1054-1056)Gtg>Atg	p.V352M	RP11-514P8.8_ENST00000481893.1_RNA|RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M|RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M			C9J798	RAS4B_HUMAN	RAS p21 protein activator 4B	352	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)	p.V352M(1)		skin(1)	1						AAAGACTCCACGGACTTTGAG	0.542																																						ENST00000481893.1																			1	Substitution - Missense(1)	p.V352M(1)	kidney(1)	skin(1)	1						c.(838-840)Gtg>Atg		RAS p21 protein activator 4B																																				SO:0001583	missense	100271927							g.chr7:102136604C>T		CCDS59506.1	7q22.1	2013-01-10			ENSG00000170667	ENSG00000170667		"""Pleckstrin homology (PH) domain containing"""	35202	protein-coding gene	gene with protein product							Standard	NM_001277335		Approved		uc003uzu.2	C9J798	OTTHUMG00000022944	ENST00000465829.1:c.1054G>A	7.37:g.102136604C>T	ENSP00000417895:p.Val352Met					RASA4B_ENST00000465829.1_Missense_Mutation_p.V352M|RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M|RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M	p.V280M							16	1962	-									Missense_Mutation	SNP	ENST00000465829.1	37	c.838G>A		.	.	.	.	.	.	.	.	.	.	.	0.013	-1.627428	0.00813	.	.	ENSG00000170667	ENST00000541662;ENST00000465829;ENST00000481893;ENST00000306682	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.05	4.05	0.47172	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	N	0.000000	T	0.39989	0.1099	N	0.00538	-1.39	0.20873	N	0.999832	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.09377	0.004;0.003;0.0	T	0.42292	-0.9460	10	0.02654	T	1	.	8.9242	0.35630	0.0:0.0917:0.0:0.9083	rs746316;rs11547192	280;352;352	F8W6L0;F5GXT2;C9J798	.;.;RAS4B_HUMAN	M	352;352;280;280	ENSP00000440982:V352M;ENSP00000417895:V352M;ENSP00000419967:V280M;ENSP00000303968:V280M	ENSP00000303968:V280M	V	-	1	0	RASA4B	101923609	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	4.925000	0.63425	0.541000	0.28827	-0.556000	0.04195	GTG		0.542	RASA4B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000059600.6	XM_003118600		5	145	0	0	0	1	0	5	145				
ARSI	340075	broad.mit.edu	37	5	149677735	149677735	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr5:149677735C>T	ENST00000328668.7	-	2	1331	c.752G>A	c.(751-753)cGc>cAc	p.R251H		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	251					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)			GGTGCGGTAGCGGTACAGGTA	0.627																																						ENST00000328668.7																			0				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						c.(751-753)cGc>cAc		arylsulfatase family, member I							57.0	54.0	55.0					5																	149677735		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677735C>T	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.752G>A	5.37:g.149677735C>T	ENSP00000333395:p.Arg251His						p.R251H	NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1331	-			251					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.752G>A	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103241	0.37145	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.98747	-5.11;-5.11	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.055070	0.64402	D	0.000001	D	0.95475	0.8530	N	0.20483	0.58	0.40130	D	0.976702	B	0.15719	0.014	B	0.13407	0.009	D	0.93266	0.6647	10	0.34782	T	0.22	.	13.4194	0.60987	0.0:0.8424:0.1576:0.0	.	251	Q5FYB1	ARSI_HUMAN	H	251;108	ENSP00000333395:R251H;ENSP00000426879:R108H	ENSP00000333395:R251H	R	-	2	0	ARSI	149657928	0.984000	0.35163	1.000000	0.80357	0.992000	0.81027	1.227000	0.32576	2.460000	0.83146	0.561000	0.74099	CGC		0.627	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		14	46	0	0	0	1	0	14	46				
PCIF1	63935	broad.mit.edu	37	20	44567730	44567730	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr20:44567730C>G	ENST00000372409.3	+	3	456	c.92C>G	c.(91-93)cCa>cGa	p.P31R		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	31					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CCCTGTTCTCCAAAGCCAATC	0.632																																						ENST00000372409.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(91-93)cCa>cGa		PDX1 C-terminal inhibiting factor 1							68.0	67.0	67.0					20																	44567730		2203	4300	6503	SO:0001583	missense	63935					nucleus		g.chr20:44567730C>G	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.92C>G	20.37:g.44567730C>G	ENSP00000361486:p.Pro31Arg						p.P31R	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN			3	456	+			31					E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	c.92C>G	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397204	0.83120	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.69	5.69	0.88448	.	0.110852	0.64402	D	0.000006	T	0.54013	0.1832	N	0.24115	0.695	0.58432	D	0.999993	D	0.60160	0.987	P	0.56916	0.809	T	0.56914	-0.7900	9	0.62326	D	0.03	-7.2133	14.4066	0.67086	0.0:0.8527:0.1472:0.0	.	31	Q9H4Z3	PCIF1_HUMAN	R	31	.	ENSP00000361486:P31R	P	+	2	0	PCIF1	44001137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.942000	0.63547	2.676000	0.91093	0.655000	0.94253	CCA		0.632	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		22	49	0	0	0	1	0	22	49				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		8	479	0	0	0	1	0	8	479				
NMT2	9397	broad.mit.edu	37	10	15183456	15183456	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:15183456C>G	ENST00000378165.4	-	2	291	c.211G>C	c.(211-213)Gat>Cat	p.D71H	NMT2_ENST00000540259.1_5'UTR|NMT2_ENST00000378150.1_Silent_p.L43L|NMT2_ENST00000535341.1_Silent_p.L43L	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	71					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TCCTGGGAATCAGATGCCGAG	0.433																																					Melanoma(117;1345 1645 4130 12688 30625)	ENST00000378165.4																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						c.(211-213)Gat>Cat		N-myristoyltransferase 2							158.0	168.0	165.0					10																	15183456		2203	4300	6503	SO:0001583	missense	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15183456C>G	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.211G>C	10.37:g.15183456C>G	ENSP00000367407:p.Asp71His					NMT2_ENST00000378150.1_Silent_p.L43L|NMT2_ENST00000535341.1_Silent_p.L43L|NMT2_ENST00000540259.1_5'UTR	p.D71H	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN			2	291	-			71					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	c.211G>C	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260227	0.80246	.	.	ENSG00000152465	ENST00000378165;ENST00000378143	T	0.48836	0.8	5.91	5.91	0.95273	.	0.174393	0.64402	D	0.000010	T	0.62024	0.2394	L	0.40543	1.245	0.80722	D	1	D;D	0.67145	0.958;0.996	P;D	0.65233	0.823;0.933	T	0.62296	-0.6884	10	0.87932	D	0	-25.8101	20.2985	0.98592	0.0:1.0:0.0:0.0	.	71;71	B2RCF3;O60551	.;NMT2_HUMAN	H	71	ENSP00000367407:D71H	ENSP00000367385:D71H	D	-	1	0	NMT2	15223462	1.000000	0.71417	0.992000	0.48379	0.531000	0.34715	7.275000	0.78548	2.793000	0.96121	0.655000	0.94253	GAT		0.433	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		18	49	0	0	0	1	0	18	49				
STH	246744	broad.mit.edu	37	17	44076946	44076946	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr17:44076946C>G	ENST00000537309.1	+	1	331	c.301C>G	c.(301-303)Cag>Gag	p.Q101E	MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000351559.5_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	101						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGGCCCCTTTCAGGGCCAGAA	0.587																																						ENST00000537309.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(301-303)Cag>Gag		saitohin							37.0	39.0	38.0					17																	44076946		1932	4143	6075	SO:0001583	missense	246744					cytoplasm|nucleus		g.chr17:44076946C>G	AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"""microtubule-associated protein tau (MAPT) intronic transcript"""	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.301C>G	17.37:g.44076946C>G	ENSP00000443168:p.Gln101Glu					MAPT_ENST00000340799.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000576518.1_Intron	p.Q101E	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN			1	331	+			101					A1L3X7	Missense_Mutation	SNP	ENST00000537309.1	37	c.301C>G	CCDS54136.1	.	.	.	.	.	.	.	.	.	.	C	2.668	-0.278230	0.05679	.	.	ENSG00000256762	ENST00000537309	T	0.51574	0.7	2.11	0.0289	0.14160	.	.	.	.	.	T	0.33556	0.0867	N	0.08118	0	0.09310	N	1	D	0.55172	0.97	P	0.52957	0.714	T	0.17837	-1.0356	9	0.87932	D	0	.	4.7573	0.13090	0.0:0.6925:0.0:0.3075	.	101	Q8IWL8	STH_HUMAN	E	101	ENSP00000443168:Q101E	ENSP00000443168:Q101E	Q	+	1	0	STH	41432783	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-0.398000	0.07259	0.064000	0.16427	0.549000	0.68633	CAG		0.587	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400444.1			7	23	0	0	0	1	0	7	23				
LRRC6	23639	broad.mit.edu	37	8	133623563	133623563	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:133623563C>T	ENST00000519595.1	-	9	1119	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	LRRC6_ENST00000250173.1_Missense_Mutation_p.V341M|LRRC6_ENST00000518642.1_Missense_Mutation_p.V341M			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	341	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATTACTCGCACGTAAGTTGGT	0.318																																						ENST00000519595.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.(1021-1023)Gtg>Atg		leucine rich repeat containing 6							76.0	75.0	75.0					8																	133623563		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133623563C>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.1021G>A	8.37:g.133623563C>T	ENSP00000429791:p.Val341Met					LRRC6_ENST00000518642.1_Missense_Mutation_p.V341M|LRRC6_ENST00000250173.1_Missense_Mutation_p.V341M	p.V341M			Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		9	1119	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		341			CS.		Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.1021G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.404341|2.404341	0.42613|0.42613	.|.	.|.	ENSG00000129295|ENSG00000129295	ENST00000519085|ENST00000519595;ENST00000522789;ENST00000518642;ENST00000250173;ENST00000395414	.|T;T;T;T	.|0.77877	.|-1.13;-1.13;0.88;-1.13	5.89|5.89	5.01|5.01	0.66863|0.66863	.|CS-like domain (1);	.|0.200595	.|0.43579	.|D	.|0.000542	D|D	0.86908|0.86908	0.6046|0.6046	M|M	0.88310|0.88310	2.945|2.945	0.41293|0.41293	D|D	0.986999|0.986999	.|D	.|0.89917	.|1.0	.|D	.|0.66351	.|0.943	D|D	0.87908|0.87908	0.2695|0.2695	5|10	.|0.87932	.|D	.|0	-21.9766|-21.9766	6.8666|6.8666	0.24096|0.24096	0.0:0.7829:0.0:0.2171|0.0:0.7829:0.0:0.2171	.|.	.|341	.|Q86X45	.|LRRC6_HUMAN	H|M	62|341;81;341;341;341	.|ENSP00000429791:V341M;ENSP00000428015:V81M;ENSP00000428610:V341M;ENSP00000250173:V341M	.|ENSP00000250173:V341M	R|V	-|-	2|1	0|0	LRRC6|LRRC6	133692745|133692745	0.751000|0.751000	0.28327|0.28327	0.970000|0.970000	0.41538|0.41538	0.033000|0.033000	0.12548|0.12548	1.158000|1.158000	0.31737|0.31737	2.793000|2.793000	0.96121|0.96121	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.318	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		61	41	0	0	0	1	0	61	41				
FRY	10129	broad.mit.edu	37	13	32786429	32786429	+	Splice_Site	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr13:32786429G>A	ENST00000380250.3	+	35	5088	c.4592G>A	c.(4591-4593)gGa>gAa	p.G1531E		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1531						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCATCTACAGGAACCACCTCT	0.418																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.e35-1		furry homolog (Drosophila)							71.0	63.0	66.0					13																	32786429		1831	4079	5910	SO:0001630	splice_region_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32786429G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4592-1G>A	13.37:g.32786429G>A							p.G1531_splice	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	35	5088	+		Lung SC(185;0.0271)	1531					Q9Y3N6	Splice_Site	SNP	ENST00000380250.3	37	c.4591_splice	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803414	0.70682	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.25085	1.82	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.16600	-1.0397	9	.	.	.	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	1531	Q5TBA9	FRY_HUMAN	E	1531;368	ENSP00000369600:G1531E	.	G	+	2	0	FRY	31684429	1.000000	0.71417	0.982000	0.44146	0.128000	0.20619	9.336000	0.96533	2.788000	0.95919	0.650000	0.86243	GGA		0.418	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	Missense_Mutation	12	14	0	0	0	1	0	12	14				
IFI27	3429	broad.mit.edu	37	14	94578103	94578103	+	Silent	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr14:94578103C>T	ENST00000555744.1	+	2	263	c.75C>T	c.(73-75)gcC>gcT	p.A25A	IFI27_ENST00000557634.1_Silent_p.A25A|IFI27_ENST00000298902.5_Silent_p.A25A|IFI27_ENST00000557098.1_Intron|IFI27_ENST00000444961.1_Silent_p.A25A|IFI27_ENST00000448882.1_Silent_p.A25A			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	25					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		CTGGCTCTGCCGTAGTTTTGC	0.662																																					GBM(128;797 1667 20895 29868 47129)	ENST00000555744.1																			0				breast(1)|lung(3)	4						c.(73-75)gcC>gcT		interferon, alpha-inducible protein 27							131.0	105.0	114.0					14																	94578103		2203	4300	6503	SO:0001819	synonymous_variant	3429				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion		g.chr14:94578103C>T	X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	ENST00000555744.1:c.75C>T	14.37:g.94578103C>T						IFI27_ENST00000444961.1_Silent_p.A25A|IFI27_ENST00000298902.5_Silent_p.A25A|IFI27_ENST00000557098.1_Intron|IFI27_ENST00000557634.1_Silent_p.A25A|IFI27_ENST00000448882.1_Silent_p.A25A	p.A25A			P40305	IFI27_HUMAN		Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)	2	263	+			25					Q53YA6|Q6IEC1|Q96BK3	Silent	SNP	ENST00000555744.1	37	c.75C>T	CCDS32148.1																																																																																				0.662	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	NM_005532		17	25	0	0	0	1	0	17	25				
DIRAS2	54769	broad.mit.edu	37	9	93375708	93375708	+	Silent	SNP	G	G	A	rs76821927		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr9:93375708G>A	ENST00000375765.3	-	2	790	c.402C>T	c.(400-402)agC>agT	p.S134S		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	134					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CCTCCGCCTCGCTGCTCTGCA	0.582																																						ENST00000375765.3																			0				kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						c.(400-402)agC>agT		DIRAS family, GTP-binding RAS-like 2							81.0	74.0	77.0					9																	93375708		2203	4300	6503	SO:0001819	synonymous_variant	54769				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr9:93375708G>A	AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.402C>T	9.37:g.93375708G>A							p.S134S	NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN			2	790	-			134					B3KVM2	Silent	SNP	ENST00000375765.3	37	c.402C>T	CCDS6687.1																																																																																				0.582	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1			36	51	0	0	0	1	0	36	51				
DUOXA1	90527	broad.mit.edu	37	15	45412980	45412980	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:45412980C>G	ENST00000560572.1	-	4	369	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	DUOXA1_ENST00000558996.1_Missense_Mutation_p.E77Q|DUOXA1_ENST00000267803.4_Missense_Mutation_p.E122Q|DUOXA1_ENST00000558422.1_Missense_Mutation_p.E77Q|DUOXA1_ENST00000559014.1_Missense_Mutation_p.E122Q|DUOXA1_ENST00000430224.2_Missense_Mutation_p.E77Q	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	122					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		TTGATGGTCTCATTCAGCTGC	0.592																																						ENST00000558996.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(229-231)Gag>Cag		dual oxidase maturation factor 1							124.0	126.0	125.0					15																	45412980		2198	4298	6496	SO:0001583	missense	90527				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45412980C>G	BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.364G>C	15.37:g.45412980C>G	ENSP00000454084:p.Glu122Gln					DUOXA1_ENST00000267803.4_Missense_Mutation_p.E122Q|DUOXA1_ENST00000430224.2_Missense_Mutation_p.E77Q|DUOXA1_ENST00000560572.1_Missense_Mutation_p.E122Q|DUOXA1_ENST00000559014.1_Missense_Mutation_p.E122Q|DUOXA1_ENST00000558422.1_Missense_Mutation_p.E77Q	p.E77Q	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)	4	283	-		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	122					Q8N6K9|Q96MI4	Missense_Mutation	SNP	ENST00000560572.1	37	c.229G>C		.	.	.	.	.	.	.	.	.	.	C	25.6	4.653800	0.88056	.	.	ENSG00000140254	ENST00000267803;ENST00000430224	T;T	0.60171	0.21;0.21	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.80508	2.5	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.79162	-0.1917	10	0.56958	D	0.05	-23.0168	18.42	0.90587	0.0:1.0:0.0:0.0	.	77;77;122;122	B5M0C0;B5M0B8;Q1HG43;A8K9Q6	.;.;DOXA1_HUMAN;.	Q	122;77	ENSP00000267803:E122Q;ENSP00000415512:E77Q	ENSP00000267803:E122Q	E	-	1	0	DUOXA1	43200272	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	7.627000	0.83176	2.833000	0.97629	0.650000	0.86243	GAG		0.592	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000416242.1	NM_144565		55	120	0	0	0	1	0	55	120				
ZNF43	7594	broad.mit.edu	37	19	21992531	21992531	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:21992531C>G	ENST00000354959.4	-	4	477	c.308G>C	c.(307-309)aGa>aCa	p.R103T	ZNF43_ENST00000598381.1_Missense_Mutation_p.R97T|ZNF43_ENST00000595461.1_Missense_Mutation_p.R97T|ZNF43_ENST00000594012.1_Missense_Mutation_p.R97T	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GTTTTTATATCTTCTCAGTGT	0.318																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(289-291)aGa>aCa		zinc finger protein 43							66.0	70.0	69.0					19																	21992531		2203	4296	6499	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21992531C>G	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.308G>C	19.37:g.21992531C>G	ENSP00000347045:p.Arg103Thr					ZNF43_ENST00000354959.4_Missense_Mutation_p.R103T|ZNF43_ENST00000598381.1_Missense_Mutation_p.R97T|ZNF43_ENST00000595461.1_Missense_Mutation_p.R97T	p.R97T	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	804	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	103					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.290G>C	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	C	6.882	0.532211	0.13127	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.05447	3.44	1.07	1.07	0.20283	.	.	.	.	.	T	0.08846	0.0219	M	0.74258	2.255	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.25950	-1.0117	9	0.34782	T	0.22	.	7.0762	0.25205	0.0:1.0:0.0:0.0	.	103	P17038	ZNF43_HUMAN	T	102;103	ENSP00000347045:R103T	ENSP00000347045:R103T	R	-	2	0	ZNF43	21784371	0.004000	0.15560	0.013000	0.15412	0.018000	0.09664	-0.133000	0.10451	0.538000	0.28769	0.305000	0.20034	AGA		0.318	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		15	78	0	0	0	1	0	15	78				
HIF3A	64344	broad.mit.edu	37	19	46807198	46807198	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:46807198C>T	ENST00000377670.4	+	2	101	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	HIF3A_ENST00000420102.2_Silent_p.P21P|HIF3A_ENST00000244303.6_Silent_p.P3P|HIF3A_ENST00000472815.1_Silent_p.P3P|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000339613.2_5'UTR|HIF3A_ENST00000300862.3_Missense_Mutation_p.R22C|HIF3A_ENST00000600383.1_Silent_p.P3P	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	24	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GGATGCGGCCCGCAGCCGGCG	0.657																																						ENST00000377670.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(70-72)Cgc>Tgc		hypoxia inducible factor 3, alpha subunit							12.0	14.0	13.0					19																	46807198		2186	4283	6469	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46807198C>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.70C>T	19.37:g.46807198C>T	ENSP00000366898:p.Arg24Cys					HIF3A_ENST00000300862.3_Missense_Mutation_p.R22C|HIF3A_ENST00000420102.2_Silent_p.P21P|HIF3A_ENST00000339613.2_5'UTR|HIF3A_ENST00000600383.1_Silent_p.P3P|HIF3A_ENST00000472815.1_Silent_p.P3P|HIF3A_ENST00000244303.6_Silent_p.P3P	p.R24C	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	2	101	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	24					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.70C>T	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464921	0.84425	.	.	ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000414707;ENST00000472815;ENST00000300862	T;T	0.64803	-0.1;-0.12	4.97	4.97	0.65823	Helix-loop-helix DNA-binding (3);	0.000000	0.40818	N	0.001009	T	0.75982	0.3924	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.996;0.996	T	0.77608	-0.2524	10	0.87932	D	0	.	11.0674	0.47982	0.185:0.815:0.0:0.0	.	22;24;24;24	Q9Y2N7-2;Q9Y2N7;B0M185;E7EWV6	.;HIF3A_HUMAN;.;.	C	24;24;24;24;45;22	ENSP00000366898:R24C;ENSP00000300862:R22C	ENSP00000244302:R24C	R	+	1	0	HIF3A	51499038	0.663000	0.27448	1.000000	0.80357	0.998000	0.95712	1.311000	0.33562	2.756000	0.94617	0.563000	0.77884	CGC		0.657	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			4	15	0	0	0	1	0	4	15				
ZBTB3	79842	broad.mit.edu	37	11	62520867	62520867	+	Silent	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr11:62520867C>G	ENST00000394807.3	-	2	545	c.420G>C	c.(418-420)ctG>ctC	p.L140L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	140	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TATCCCCTCTCAGGGTCAGCT	0.547																																						ENST00000394807.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(418-420)ctG>ctC		zinc finger and BTB domain containing 3							80.0	82.0	81.0					11																	62520867		2202	4299	6501	SO:0001819	synonymous_variant	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62520867C>G	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.420G>C	11.37:g.62520867C>G							p.L140L	NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN			2	545	-			140			BTB.			Silent	SNP	ENST00000394807.3	37	c.420G>C	CCDS8034.1																																																																																				0.547	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		42	77	0	0	0	1	0	42	77				
GPR107	57720	broad.mit.edu	37	9	132862907	132862907	+	Splice_Site	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr9:132862907G>A	ENST00000372406.1	+	11	1446		c.e11-1		GPR107_ENST00000372410.3_Splice_Site|GPR107_ENST00000347136.6_Splice_Site	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107							integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TTTGATTTCAGATTGACTACC	0.408																																						ENST00000372406.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.e11-1		G protein-coupled receptor 107							160.0	139.0	146.0					9																	132862907		2203	4300	6503	SO:0001630	splice_region_variant	57720					integral to membrane		g.chr9:132862907G>A	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.940-1G>A	9.37:g.132862907G>A						GPR107_ENST00000347136.6_Splice_Site|GPR107_ENST00000372410.3_Splice_Site		NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN			11	1446	+		Ovarian(14;0.000531)						A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Splice_Site	SNP	ENST00000372406.1	37		CCDS48041.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821535	0.90873	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3467	0.90325	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR107	131902728	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.045000	0.93812	2.665000	0.90641	0.591000	0.81541	.		0.408	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2		Intron	61	109	0	0	0	1	0	61	109				
COL11A1	1301	broad.mit.edu	37	1	103364278	103364278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:103364278G>A	ENST00000370096.3	-	56	4504	c.4192C>T	c.(4192-4194)Cag>Tag	p.Q1398*	COL11A1_ENST00000358392.2_Nonsense_Mutation_p.Q1410*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q1282*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q1359*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1398	Collagen-like 6.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCAGGTCCCTGAGGACCGACT	0.478																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(4228-4230)Cag>Tag		collagen, type XI, alpha 1							45.0	47.0	46.0					1																	103364278		2203	4300	6503	SO:0001587	stop_gained	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103364278G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4192C>T	1.37:g.103364278G>A	ENSP00000359114:p.Gln1398*					COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q1282*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q1359*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Q1398*	p.Q1410*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	56	4545	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1398			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.4228C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	45	11.890225	0.99614	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	6.06	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	15.4906	0.75602	0.0662:0.0:0.9338:0.0	.	.	.	.	X	1398;1410;1359;618;1282	.	ENSP00000302551:Q1359X	Q	-	1	0	COL11A1	103136866	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	9.795000	0.99099	1.578000	0.49821	0.650000	0.86243	CAG		0.478	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		24	34	0	0	0	1	0	24	34				
CHST2	9435	broad.mit.edu	37	3	142840472	142840472	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:142840472G>A	ENST00000309575.3	+	2	2198	c.814G>A	c.(814-816)Gtg>Atg	p.V272M		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	272					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CAAGGAGGTCGTGGGGTTGGT	0.657																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(814-816)Gtg>Atg		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							21.0	24.0	23.0					3																	142840472		2197	4297	6494	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840472G>A	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.814G>A	3.37:g.142840472G>A	ENSP00000307911:p.Val272Met						p.V272M	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	2198	+			272					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.814G>A	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332498	0.81801	.	.	ENSG00000175040	ENST00000309575	D	0.96685	-4.09	4.0	4.0	0.46444	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000015	D	0.97291	0.9114	L	0.59436	1.845	0.54753	D	0.999983	D	0.89917	1.0	D	0.77557	0.99	D	0.97195	0.9860	10	0.44086	T	0.13	-20.8075	16.2985	0.82793	0.0:0.0:1.0:0.0	.	272	Q9Y4C5	CHST2_HUMAN	M	272	ENSP00000307911:V272M	ENSP00000307911:V272M	V	+	1	0	CHST2	144323162	1.000000	0.71417	0.992000	0.48379	0.888000	0.51559	6.554000	0.73923	2.068000	0.61886	0.407000	0.27541	GTG		0.657	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		7	16	0	0	0	1	0	7	16				
DMXL2	23312	broad.mit.edu	37	15	51773320	51773320	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr15:51773320C>G	ENST00000251076.5	-	24	6270	c.5983G>C	c.(5983-5985)Ggt>Cgt	p.G1995R	DMXL2_ENST00000449909.3_Missense_Mutation_p.G1359R|DMXL2_ENST00000543779.2_Missense_Mutation_p.G1995R|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1995						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATCACTAAACCAACAGCATCG	0.423																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(5983-5985)Ggt>Cgt		Dmx-like 2							218.0	215.0	216.0					15																	51773320		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51773320C>G	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5983G>C	15.37:g.51773320C>G	ENSP00000251076:p.Gly1995Arg					RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.G1359R|DMXL2_ENST00000543779.2_Missense_Mutation_p.G1995R	p.G1995R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	6270	-			1995					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.5983G>C	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767957	0.69878	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.78246	-1.16;-1.16;-1.16	5.65	5.65	0.86999	.	0.093601	0.85682	D	0.000000	D	0.85509	0.5713	L	0.52364	1.645	0.58432	D	0.999999	D;D;D;B	0.89917	0.991;1.0;0.994;0.022	D;D;D;B	0.87578	0.914;0.998;0.911;0.02	T	0.82398	-0.0477	10	0.30854	T	0.27	.	19.7199	0.96137	0.0:1.0:0.0:0.0	.	1995;1359;1995;1995	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	R	1995;1995;1359	ENSP00000251076:G1995R;ENSP00000441858:G1995R;ENSP00000400855:G1359R	ENSP00000251076:G1995R	G	-	1	0	DMXL2	49560612	1.000000	0.71417	0.200000	0.23457	0.901000	0.52897	7.373000	0.79623	2.665000	0.90641	0.650000	0.86243	GGT		0.423	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		23	239	0	0	0	1	0	23	239				
FUCA2	2519	broad.mit.edu	37	6	143823693	143823693	+	Silent	SNP	C	C	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr6:143823693C>A	ENST00000002165.6	-	4	817	c.762G>T	c.(760-762)cgG>cgT	p.R254R	RP1-20N2.6_ENST00000590703.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	254					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CTACTGTGCCCCGAACTGGGC	0.383																																						ENST00000002165.5																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(760-762)cgG>cgT		fucosidase, alpha-L- 2, plasma							78.0	73.0	74.0					6																	143823693		2203	4300	6503	SO:0001819	synonymous_variant	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143823693C>A	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.762G>T	6.37:g.143823693C>A						FUCA2_ENST00000367585.1_Intron|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA	p.R254R	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	4	817	-			254					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Silent	SNP	ENST00000002165.6	37	c.762G>T	CCDS5200.1																																																																																				0.383	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		33	16	1	0	4.11147e-13	1	4.42043e-13	33	16				
VWA8	23078	broad.mit.edu	37	13	42259355	42259355	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr13:42259355C>A	ENST00000379310.3	-	35	4223	c.4155G>T	c.(4153-4155)tgG>tgT	p.W1385C		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1385						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ATGGTCTCTTCCAAGAATAAA	0.383																																						ENST00000379310.3																			0											c.(4153-4155)tgG>tgT		von Willebrand factor A domain containing 8							115.0	100.0	105.0					13																	42259355		1852	4085	5937	SO:0001583	missense	23078							g.chr13:42259355C>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4155G>T	13.37:g.42259355C>A	ENSP00000368612:p.Trp1385Cys						p.W1385C	NM_015058.1	NP_055873.1					35	4223	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.4155G>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122738	0.56613	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.11063	2.81	4.95	4.95	0.65309	.	0.129583	0.56097	D	0.000037	T	0.23492	0.0568	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	P	0.55667	0.781	T	0.00466	-1.1722	10	0.66056	D	0.02	.	16.7303	0.85433	0.0:1.0:0.0:0.0	.	1385	A3KMH1	K0564_HUMAN	C	1289;1385	ENSP00000368612:W1385C	ENSP00000251030:W1289C	W	-	3	0	KIAA0564	41157355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.218000	0.51192	2.444000	0.82710	0.650000	0.86243	TGG		0.383	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		16	44	1	0	2.35188e-11	1	2.49971e-11	16	44				
SCNN1B	6338	broad.mit.edu	37	16	23364196	23364196	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:23364196C>G	ENST00000343070.2	+	3	562	c.386C>G	c.(385-387)cCt>cGt	p.P129R	SCNN1B_ENST00000568085.1_Missense_Mutation_p.P129R|SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000307331.5_Missense_Mutation_p.P174R|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P129R	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	129					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ATCCTGGCTCCTGAGCTAAGC	0.542																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(385-387)cCt>cGt		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						127.0	109.0	115.0					16																	23364196		2197	4300	6497	SO:0001583	missense	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23364196C>G	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.386C>G	16.37:g.23364196C>G	ENSP00000345751:p.Pro129Arg					SCNN1B_ENST00000307331.5_Missense_Mutation_p.P174R|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P129R|SCNN1B_ENST00000568085.1_Missense_Mutation_p.P129R|SCNN1B_ENST00000569789.1_3'UTR	p.P129R	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	3	562	+			129					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.386C>G	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	C	9.580	1.123322	0.20959	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.62639	0.01;0.01	5.0	2.65	0.31530	.	0.968544	0.08460	N	0.942576	T	0.68824	0.3043	L	0.40543	1.245	0.09310	N	0.999997	D	0.62365	0.991	P	0.62740	0.906	T	0.57545	-0.7793	10	0.33141	T	0.24	-15.0142	11.7313	0.51739	0.0:0.8284:0.0:0.1716	.	129	P51168	SCNNB_HUMAN	R	129;174	ENSP00000345751:P129R;ENSP00000302874:P174R	ENSP00000302874:P174R	P	+	2	0	SCNN1B	23271697	0.189000	0.23263	0.844000	0.33320	0.273000	0.26683	2.375000	0.44283	1.077000	0.40990	0.563000	0.77884	CCT		0.542	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			42	59	0	0	0	1	0	42	59				
KIAA1614	57710	broad.mit.edu	37	1	180904393	180904393	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:180904393G>A	ENST00000367588.4	+	5	1403	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M	KIAA1614_ENST00000367587.1_Missense_Mutation_p.V71M	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	450										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCCGTCGCACGTGCGCTTTGA	0.701																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(1348-1350)Gtg>Atg		KIAA1614							9.0	12.0	11.0					1																	180904393		2057	4156	6213	SO:0001583	missense	57710							g.chr1:180904393G>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1348G>A	1.37:g.180904393G>A	ENSP00000356560:p.Val450Met					KIAA1614_ENST00000367587.1_Missense_Mutation_p.V71M	p.V450M	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	1403	+			450					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.1348G>A	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	g	15.26	2.779953	0.49891	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.46451	1.36;0.87	4.83	4.83	0.62350	.	0.075907	0.52532	D	0.000071	T	0.62282	0.2415	L	0.61218	1.895	0.26101	N	0.98083	D	0.89917	1.0	D	0.91635	0.999	T	0.69113	-0.5231	9	0.72032	D	0.01	-23.8282	16.0625	0.80847	0.0:0.0:1.0:0.0	.	450	Q5VZ46	K1614_HUMAN	M	450;71	ENSP00000356560:V450M;ENSP00000356559:V71M	ENSP00000356559:V71M	V	+	1	0	KIAA1614	179171016	1.000000	0.71417	0.221000	0.23827	0.171000	0.22731	5.111000	0.64628	2.383000	0.81215	0.457000	0.33378	GTG		0.701	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		4	9	0	0	0	1	0	4	9				
KIF3C	3797	broad.mit.edu	37	2	26203812	26203812	+	Silent	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr2:26203812C>T	ENST00000264712.3	-	1	1554	c.975G>A	c.(973-975)ctG>ctA	p.L325L	KIF3C_ENST00000405914.1_Silent_p.L325L	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	325	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTCCTGGAGCAGCCGGGTCA	0.597																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(973-975)ctG>ctA		kinesin family member 3C							56.0	61.0	59.0					2																	26203812		2203	4300	6503	SO:0001819	synonymous_variant	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203812C>T		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.975G>A	2.37:g.26203812C>T						KIF3C_ENST00000405914.1_Silent_p.L325L	p.L325L	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	1554	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		325			Kinesin-motor.		O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	ENST00000264712.3	37	c.975G>A	CCDS1719.1																																																																																				0.597	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			18	54	0	0	0	1	0	18	54				
LAMA1	284217	broad.mit.edu	37	18	6978337	6978337	+	Silent	SNP	C	C	T	rs545116059		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr18:6978337C>T	ENST00000389658.3	-	43	6141	c.6048G>A	c.(6046-6048)acG>acA	p.T2016T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2016	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.T2016T(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GGCTTGCAGACGTGGCCAGCT	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18209	0.0		0.0	False		,,,				2504	0.0					ENST00000389658.3																			1	Substitution - coding silent(1)	p.T2016T(1)	large_intestine(1)	NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(6046-6048)acG>acA		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						93.0	88.0	89.0					18																	6978337		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6978337C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6048G>A	18.37:g.6978337C>T							p.T2016T	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			43	6141	-		Colorectal(10;0.172)	2016			Domain II and I.			Silent	SNP	ENST00000389658.3	37	c.6048G>A	CCDS32787.1																																																																																				0.512	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		24	111	0	0	0	1	0	24	111				
MED15	51586	broad.mit.edu	37	22	20937129	20937129	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr22:20937129C>T	ENST00000263205.7	+	11	1481	c.1412C>T	c.(1411-1413)tCt>tTt	p.S471F	MED15_ENST00000292733.7_Missense_Mutation_p.S431F|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000425759.2_Missense_Mutation_p.S320F|MED15_ENST00000406969.1_Missense_Mutation_p.S405F|MED15_ENST00000382974.2_Missense_Mutation_p.S360F|MED15_ENST00000542773.1_Intron|MED15_ENST00000541476.1_Missense_Mutation_p.S405F	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	471	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GGCTGCAGCTCTGGCCCTGCC	0.692																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1411-1413)tCt>tTt		mediator complex subunit 15							58.0	69.0	65.0					22																	20937129		2202	4299	6501	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20937129C>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1412C>T	22.37:g.20937129C>T	ENSP00000263205:p.Ser471Phe					MED15_ENST00000542773.1_Intron|MED15_ENST00000406969.1_Missense_Mutation_p.S405F|MED15_ENST00000292733.7_Missense_Mutation_p.S431F|MED15_ENST00000425759.2_Missense_Mutation_p.S320F|MED15_ENST00000541476.1_Missense_Mutation_p.S405F|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.S360F	p.S471F	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		11	1481	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	471			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1412C>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717626	0.48622	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.49	5.49	0.81192	Mediator complex, subunit Med15, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.78767	0.4335	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.997;0.999;0.999;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.996;0.996;0.996;0.999	T	0.80551	-0.1332	9	0.72032	D	0.01	.	16.8508	0.85993	0.0:1.0:0.0:0.0	.	401;450;87;405;431;471	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	F	320;431;471;405;360;405;401	.	ENSP00000263205:S471F	S	+	2	0	MED15	19267129	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	7.040000	0.76551	2.574000	0.86865	0.561000	0.74099	TCT		0.692	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		42	65	0	0	0	1	0	42	65				
KCNH1	3756	broad.mit.edu	37	1	211192213	211192213	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:211192213A>T	ENST00000271751.4	-	6	971	c.944T>A	c.(943-945)gTg>gAg	p.V315E	KCNH1_ENST00000367007.4_Missense_Mutation_p.V315E			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	315					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AACCTCATCCACGTTCTCAAA	0.478																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(943-945)gTg>gAg		potassium voltage-gated channel, subfamily H (eag-related), member 1							231.0	204.0	213.0					1																	211192213		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211192213A>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.944T>A	1.37:g.211192213A>T	ENSP00000271751:p.Val315Glu					KCNH1_ENST00000271751.4_Missense_Mutation_p.V315E	p.V315E	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	6	1113	-			315					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.944T>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	A	9.875	1.200052	0.22121	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98567	-5.0;-5.0	5.29	5.29	0.74685	Ion transport (1);	0.061993	0.64402	D	0.000005	D	0.97315	0.9122	M	0.63843	1.955	0.80722	D	1	B;P	0.47910	0.368;0.902	B;P	0.46208	0.196;0.507	D	0.96715	0.9528	10	0.33940	T	0.23	.	14.3963	0.67013	1.0:0.0:0.0:0.0	.	315;315	Q14CL3;O95259	.;KCNH1_HUMAN	E	315	ENSP00000271751:V315E;ENSP00000355974:V315E	ENSP00000271751:V315E	V	-	2	0	KCNH1	209258836	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.999000	0.93557	2.000000	0.58554	0.460000	0.39030	GTG		0.478	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		14	114	0	0	0	1	0	14	114				
LPHN1	22859	broad.mit.edu	37	19	14273620	14273620	+	Silent	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr19:14273620G>A	ENST00000340736.6	-	6	1305	c.1008C>T	c.(1006-1008)gaC>gaT	p.D336D	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000591528.1_5'Flank|LPHN1_ENST00000361434.3_Silent_p.D331D|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	336	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCGCCTCGCTGTCATCATCCA	0.607																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1006-1008)gaC>gaT		latrophilin 1							142.0	95.0	111.0					19																	14273620		2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14273620G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.1008C>T	19.37:g.14273620G>A						CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.D331D|CTB-55O6.12_ENST00000588387.1_RNA	p.D336D	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			6	1305	-			336			Olfactomedin-like.		Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.1008C>T	CCDS32928.1																																																																																				0.607	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		19	42	0	0	0	1	0	19	42				
PCBP1	5093	broad.mit.edu	37	2	70315482	70315482	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr2:70315482G>A	ENST00000303577.5	+	1	898	c.607G>A	c.(607-609)Gac>Aac	p.D203N	PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	203					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						TCGGTGCAGCGACGCTGCGGG	0.627																																					Colon(85;1146 1307 3484 18706 25380)	ENST00000303577.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						c.(607-609)Gac>Aac		poly(rC) binding protein 1							32.0	34.0	33.0					2																	70315482		2203	4300	6503	SO:0001583	missense	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70315482G>A		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.607G>A	2.37:g.70315482G>A	ENSP00000305556:p.Asp203Asn					PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA	p.D203N	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN			1	898	+			203					Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	c.607G>A	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	G	9.937	1.216433	0.22373	.	.	ENSG00000169564	ENST00000303577	T	0.30714	1.52	4.82	3.93	0.45458	.	0.490245	0.17527	N	0.171008	T	0.11410	0.0278	N	0.03115	-0.41	0.25354	N	0.988843	B	0.26876	0.162	B	0.18871	0.023	T	0.17715	-1.0360	10	0.15499	T	0.54	.	8.3858	0.32499	0.1036:0.0:0.8964:0.0	.	203	Q15365	PCBP1_HUMAN	N	203	ENSP00000305556:D203N	ENSP00000305556:D203N	D	+	1	0	PCBP1	70168986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.237000	0.51344	2.696000	0.92011	0.650000	0.86243	GAC		0.627	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		25	42	0	0	0	1	0	25	42				
MAP7D1	55700	broad.mit.edu	37	1	36643562	36643562	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:36643562C>G	ENST00000373151.2	+	9	1684	c.1468C>G	c.(1468-1470)Ctg>Gtg	p.L490V	MAP7D1_ENST00000316156.4_Missense_Mutation_p.L453V|MAP7D1_ENST00000373148.4_Missense_Mutation_p.L36V|MAP7D1_ENST00000373150.4_Missense_Mutation_p.L458V	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	490	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGGCCACACTCTGCCTCCAAA	0.682																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(1357-1359)Ctg>Gtg		MAP7 domain containing 1							71.0	69.0	70.0					1																	36643562		2203	4299	6502	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36643562C>G	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1468C>G	1.37:g.36643562C>G	ENSP00000362244:p.Leu490Val					MAP7D1_ENST00000373150.4_Missense_Mutation_p.L458V|MAP7D1_ENST00000373151.2_Missense_Mutation_p.L490V|MAP7D1_ENST00000373148.4_Missense_Mutation_p.L36V	p.L453V			Q3KQU3	MA7D1_HUMAN			8	1810	+		Myeloproliferative disorder(586;0.0393)	490					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.1357C>G	CCDS30673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.83|13.83	2.355586|2.355586	0.41700|0.41700	.|.	.|.	ENSG00000116871|ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151;ENST00000373148|ENST00000530975	T;T;T;T|.	0.14766|.	2.7;3.24;2.88;2.48|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.000000|.	0.32548|.	N|.	0.005941|.	T|T	0.49626|0.49626	0.1568|0.1568	L|L	0.43923|0.43923	1.385|1.385	0.31303|0.31303	N|N	0.688058|0.688058	P;D;D;P;D|.	0.69078|.	0.936;0.997;0.971;0.936;0.997|.	P;D;D;P;D|.	0.72625|.	0.448;0.978;0.961;0.554;0.978|.	T|T	0.52830|0.52830	-0.8523|-0.8523	10|5	0.23302|.	T|.	0.38|.	-14.2739|-14.2739	13.5449|13.5449	0.61697|0.61697	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	36;490;453;458;490|.	Q3KQU3-3;D3DPS3;Q3KQU3-2;Q3KQU3-4;Q3KQU3|.	.;.;.;.;MA7D1_HUMAN|.	V|C	453;458;490;36|72	ENSP00000320228:L453V;ENSP00000362243:L458V;ENSP00000362244:L490V;ENSP00000362241:L36V|.	ENSP00000320228:L453V|.	L|S	+|+	1|2	2|0	MAP7D1|MAP7D1	36416149|36416149	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.964000|0.964000	0.63967|0.63967	3.055000|3.055000	0.49916|0.49916	2.576000|2.576000	0.86940|0.86940	0.591000|0.591000	0.81541|0.81541	CTG|TCT		0.682	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		23	35	0	0	0	1	0	23	35				
SLC12A9	56996	broad.mit.edu	37	7	100459413	100459413	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr7:100459413C>T	ENST00000354161.3	+	12	1716	c.1591C>T	c.(1591-1593)Cgg>Tgg	p.R531W	SLC12A9_ENST00000428758.1_Missense_Mutation_p.R531W|SLC12A9_ENST00000415287.1_Missense_Mutation_p.R442W|SLC12A9_ENST00000540482.1_Missense_Mutation_p.R531W|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R442W	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	531					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GAAGTTCTGGCGGCCCCAGCT	0.632																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1591-1593)Cgg>Tgg		solute carrier family 12, member 9							69.0	71.0	70.0					7																	100459413		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100459413C>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1591C>T	7.37:g.100459413C>T	ENSP00000275730:p.Arg531Trp					SLC12A9_ENST00000540482.1_Missense_Mutation_p.R531W|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R442W|SLC12A9_ENST00000415287.1_Missense_Mutation_p.R442W|SLC12A9_ENST00000428758.1_Missense_Mutation_p.R531W	p.R531W	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			12	1716	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		531					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.1591C>T	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097007	0.76870	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000539308	D;D;D;D;D	0.98968	-5.28;-5.28;-5.28;-5.28;-5.28	5.56	3.72	0.42706	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99384	0.9783	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98701	1.0700	10	0.72032	D	0.01	.	12.8238	0.57708	0.2974:0.7026:0.0:0.0	.	442;531	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	W	531;531;442;442;531;157	ENSP00000443702:R531W;ENSP00000408301:R531W;ENSP00000275729:R442W;ENSP00000413796:R442W;ENSP00000275730:R531W	ENSP00000275729:R442W	R	+	1	2	SLC12A9	100297349	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	0.543000	0.23237	0.672000	0.31204	0.478000	0.44815	CGG		0.632	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		4	126	0	0	0	1	0	4	126				
NSMAF	8439	broad.mit.edu	37	8	59514673	59514673	+	Missense_Mutation	SNP	G	G	A	rs561860265		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:59514673G>A	ENST00000038176.3	-	14	1281	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	NSMAF_ENST00000427130.2_Missense_Mutation_p.R388W|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	357	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CTGAGATCCCGGAAGGTTCCT	0.383																																						ENST00000038176.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(1069-1071)Cgg>Tgg		neutral sphingomyelinase (N-SMase) activation associated factor							103.0	105.0	105.0					8																	59514673		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59514673G>A	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1069C>T	8.37:g.59514673G>A	ENSP00000038176:p.Arg357Trp					NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Missense_Mutation_p.R388W	p.R357W	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			14	1281	-		all_lung(136;0.174)|Lung NSC(129;0.2)	357			BEACH.		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.1069C>T	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787321	0.70337	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	D;D	0.91011	-2.77;-2.77	5.81	4.92	0.64577	BEACH domain (4);	0.048996	0.85682	D	0.000000	D	0.97551	0.9198	H	0.99156	4.45	0.43803	D	0.996354	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.911;0.996;0.996	D	0.99264	1.0891	9	.	.	.	.	16.0698	0.80914	0.0:0.0:0.8648:0.1352	.	388;357;357	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	W	357;388	ENSP00000038176:R357W;ENSP00000411012:R388W	.	R	-	1	2	NSMAF	59677227	1.000000	0.71417	0.999000	0.59377	0.655000	0.38815	4.861000	0.62969	1.410000	0.46936	0.655000	0.94253	CGG		0.383	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		12	115	0	0	0	1	0	12	115				
MBTPS1	8720	broad.mit.edu	37	16	84132848	84132848	+	Silent	SNP	C	C	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr16:84132848C>A	ENST00000343411.3	-	3	726	c.231G>T	c.(229-231)ctG>ctT	p.L77L		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	77					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CACTGCTCTTCAGGGCACTTG	0.348																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(229-231)ctG>ctT		membrane-bound transcription factor peptidase, site 1							111.0	100.0	104.0					16																	84132848		2200	4300	6500	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84132848C>A	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.231G>T	16.37:g.84132848C>A							p.L77L	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			3	726	-			77					A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.231G>T	CCDS10941.1																																																																																				0.348	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		47	83	1	0	1.6237e-14	1	1.76613e-14	47	83				
C8orf33	65265	broad.mit.edu	37	8	146278031	146278031	+	Silent	SNP	G	G	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr8:146278031G>T	ENST00000331434.6	+	2	180	c.66G>T	c.(64-66)gcG>gcT	p.A22A		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	22										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		CTCCCTGCGCGTCCCGCGGAG	0.687																																						ENST00000331434.6																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(64-66)gcG>gcT		chromosome 8 open reading frame 33							33.0	43.0	40.0					8																	146278031		2203	4299	6502	SO:0001819	synonymous_variant	65265							g.chr8:146278031G>T		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.66G>T	8.37:g.146278031G>T							p.A22A	NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)	2	180	+	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		22					A6NGC0|Q96BT8	Silent	SNP	ENST00000331434.6	37	c.66G>T	CCDS34974.1																																																																																				0.687	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080		88	38	1	0	7.63117e-38	1	9.27711e-38	88	38				
PPP2R5D	5528	broad.mit.edu	37	6	42975720	42975720	+	Silent	SNP	C	C	G			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr6:42975720C>G	ENST00000485511.1	+	7	953	c.774C>G	c.(772-774)ctC>ctG	p.L258L	PPP2R5D_ENST00000472118.1_Silent_p.L250L|PPP2R5D_ENST00000394110.3_Silent_p.L226L|PPP2R5D_ENST00000461010.1_Silent_p.L152L	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	258					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGACTTCCTCAAGACCATTT	0.552																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(772-774)ctC>ctG		protein phosphatase 2, regulatory subunit B', delta							127.0	123.0	125.0					6																	42975720		2203	4300	6503	SO:0001819	synonymous_variant	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42975720C>G	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.774C>G	6.37:g.42975720C>G						PPP2R5D_ENST00000472118.1_Silent_p.L250L|PPP2R5D_ENST00000394110.3_Silent_p.L226L|PPP2R5D_ENST00000461010.1_Silent_p.L152L	p.L258L	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		7	953	+			258					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Silent	SNP	ENST00000485511.1	37	c.774C>G	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	C	7.132	0.580138	0.13686	.	.	ENSG00000112640	ENST00000470467	.	.	.	5.84	2.1	0.27182	.	.	.	.	.	T	0.26122	0.0637	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16129	-1.0413	4	.	.	.	-27.9426	1.7159	0.02902	0.1176:0.4145:0.1931:0.2748	.	.	.	.	E	178	.	.	Q	+	1	0	PPP2R5D	43083698	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.832000	0.27490	0.097000	0.17492	-0.136000	0.14681	CAA		0.552	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		45	94	0	0	0	1	0	45	94				
NSD1	64324	broad.mit.edu	37	5	176675230	176675230	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr5:176675230G>T	ENST00000439151.2	+	11	4591	c.4546G>T	c.(4546-4548)Gag>Tag	p.E1516*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1247*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1413*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1247*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1516					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGAGACTGTTGAGGAAGGTGT	0.488			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4546-4548)Gag>Tag		nuclear receptor binding SET domain protein 1							73.0	73.0	73.0					5																	176675230		2203	4300	6503	SO:0001587	stop_gained	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176675230G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4546G>T	5.37:g.176675230G>T	ENSP00000395929:p.Glu1516*	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1247*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1413*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1247*	p.E1516*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	11	4591	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1516					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.4546G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	43	10.116776	0.99340	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.7766	0.91913	0.0:0.0:1.0:0.0	.	.	.	.	X	1247;1516;1247;1413	.	ENSP00000343209:E1247X	E	+	1	0	NSD1	176607836	1.000000	0.71417	0.893000	0.35052	0.978000	0.69477	7.095000	0.76952	2.425000	0.82216	0.655000	0.94253	GAG		0.488	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		22	13	1	0	7.45023e-12	1	7.96403e-12	22	13				
DZIP1	22873	broad.mit.edu	37	13	96293908	96293908	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr13:96293908C>A	ENST00000376829.2	-	5	1089	c.238G>T	c.(238-240)Gtg>Ttg	p.V80L	DZIP1_ENST00000347108.3_Missense_Mutation_p.V80L|DZIP1_ENST00000361396.2_Missense_Mutation_p.V80L|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361156.3_Missense_Mutation_p.V80L	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	80					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)			GCCCCCGCCACCTTGTCCACG	0.662																																						ENST00000347108.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(238-240)Gtg>Ttg		DAZ interacting zinc finger protein 1							80.0	73.0	75.0					13																	96293908		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96293908C>A	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.238G>T	13.37:g.96293908C>A	ENSP00000366025:p.Val80Leu					DZIP1_ENST00000361396.2_Missense_Mutation_p.V80L|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000376829.2_Missense_Mutation_p.V80L|DZIP1_ENST00000361156.3_Missense_Mutation_p.V80L	p.V80L			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		3	670	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		80					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.238G>T	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599443	0.46318	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	L	0.50333	1.59	0.40931	D	0.984396	P;P;P	0.49447	0.924;0.886;0.906	P;B;P	0.46543	0.52;0.365;0.498	T	0.32798	-0.9893	10	0.29301	T	0.29	-18.0846	14.3851	0.66940	0.0:0.8516:0.1484:0.0	.	80;80;80	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	L	80	ENSP00000257312:V80L;ENSP00000355018:V80L;ENSP00000355175:V80L;ENSP00000366025:V80L	ENSP00000257312:V80L	V	-	1	0	DZIP1	95091909	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	3.881000	0.56152	2.221000	0.72209	0.563000	0.77884	GTG		0.662	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		38	70	1	0	2.19962e-31	1	2.62263e-31	38	70				
AADAC	13	broad.mit.edu	37	3	151545711	151545711	+	Silent	SNP	G	G	C			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr3:151545711G>C	ENST00000232892.7	+	5	1077	c.951G>C	c.(949-951)gtG>gtC	p.V317V	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	317					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TCCTAGATGTGAGGGCAGCCC	0.433																																					Ovarian(30;839 841 2699 32801 46334)	ENST00000232892.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19						c.(949-951)gtG>gtC		arylacetamide deacetylase							58.0	54.0	55.0					3																	151545711		2203	4300	6503	SO:0001819	synonymous_variant	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151545711G>C	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.951G>C	3.37:g.151545711G>C						RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.V317V	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1077	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	317					A8K3L3|D3DNJ6|Q8N1A9	Silent	SNP	ENST00000232892.7	37	c.951G>C	CCDS33877.1																																																																																				0.433	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		24	54	0	0	0	1	0	24	54				
CLCNKA	1187	broad.mit.edu	37	1	16349201	16349201	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:16349201delC	ENST00000331433.4	+	2	106	c.87delC	c.(85-87)cgcfs	p.R30fs	CLCNKA_ENST00000375692.1_Frame_Shift_Del_p.R30fs|CLCNKA_ENST00000439316.2_Frame_Shift_Del_p.R30fs|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Frame_Shift_Del_p.R30fs			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	30					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCCACATCCGCCGAGCCATCC	0.662																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(85-87)cgfs		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						35.0	32.0	33.0					1																	16349201		2190	4284	6474	SO:0001589	frameshift_variant	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16349201delC		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.87delC	1.37:g.16349201delC	ENSP00000332771:p.Arg30fs					CLCNKA_ENST00000331433.4_Frame_Shift_Del_p.R30fs|CLCNKA_ENST00000420078.1_Frame_Shift_Del_p.R30fs|CLCNKA_ENST00000439316.2_Frame_Shift_Del_p.R30fs|CLCNKA_ENST00000464764.1_3'UTR	p.R30fs			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	3	215	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	30					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Frame_Shift_Del	DEL	ENST00000331433.4	37	c.87delC	CCDS167.1																																																																																				0.662	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			2	4						2	4	---	---	---	---
NDUFS5	4725	broad.mit.edu	37	1	39500131	39500135	+	Frame_Shift_Del	DEL	CACCT	CACCT	-	rs201212110|rs1050978		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr1:39500131_39500135delCACCT	ENST00000372969.3	+	3	371_375	c.284_288delCACCT	c.(283-288)ccacctfs	p.PP95fs	NDUFS5_ENST00000372967.3_Frame_Shift_Del_p.PP95fs	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	95					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)			TACACCCCTCCACCTCACCACATTG	0.502																																						ENST00000372969.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5						c.(283-288)cfs		NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	NADH(DB00157)																																			SO:0001589	frameshift_variant	4725				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr1:39500131_39500135delCACCT	AF047434	CCDS434.1	1p34.2-p33	2011-07-04	2002-08-29		ENSG00000168653	ENSG00000168653		"""Mitochondrial respiratory chain complex / Complex I"""	7712	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 5"""	603847	"""NADH dehydrogenase (ubiquinone) Fe-S protein 5 (15kD) (NADH-coenzyme Q reductase)"""			9763677, 9653160	Standard	NM_004552		Approved	CI-15k	uc001ccy.3	O43920	OTTHUMG00000007497	ENST00000372969.3:c.284_288delCACCT	1.37:g.39500131_39500135delCACCT	ENSP00000362060:p.Pro95fs					NDUFS5_ENST00000372967.3_Frame_Shift_Del_p.PP95fs	p.PP95fs	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		3	371_375	+	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	95						Frame_Shift_Del	DEL	ENST00000372969.3	37	c.284_288delCACCT	CCDS434.1																																																																																				0.502	NDUFS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019688.1	NM_004552		18	61						18	61	---	---	---	---
ZNF876P	642280	broad.mit.edu	37	4	212236	212236	+	RNA	DEL	A	A	-	rs80061878		TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr4:212236delA	ENST00000356347.3	+	0	172					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ctaaaaatacaaaaaaaaaaa	0.493																																						ENST00000356347.3																			0																																																			642280							g.chr4:212236delA	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.212236delA								NR_027481.1						0	172	+									RNA	DEL	ENST00000356347.3	37																																																																																						0.493	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		2	4						2	4	---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2954870	2954873	+	Splice_Site	DEL	CCTT	CCTT	-			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr7:2954870_2954873delCCTT	ENST00000396946.4	-	21	3240_3243	c.2837_2840delAAGG	c.(2836-2841)gaaggg>gg	p.EG946fs		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	946					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCCCATGTACCTTCCTGCTTCTC	0.637			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.e21+1		caspase recruitment domain family, member 11																																				SO:0001630	splice_region_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2954870_2954873delCCTT	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2839+1AAGG>-	7.37:g.2954870_2954873delCCTT							p.946_splice	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	21	3240_3243	-		Ovarian(82;0.0115)	946					A4D1Z7|Q2NKN7|Q548H3	Splice_Site	DEL	ENST00000396946.4	37	c.2839_splice	CCDS5336.2																																																																																				0.637	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	Frame_Shift_Del	27	54						27	54	---	---	---	---
TAF5	6877	broad.mit.edu	37	10	105127982	105127982	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr10:105127982delC	ENST00000369839.3	+	1	259	c.236delC	c.(235-237)gccfs	p.A79fs	TAF5_ENST00000351396.4_Frame_Shift_Del_p.A79fs	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	79					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		gcgggggcggccccggtgccc	0.756																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(235-237)gcfs		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa							2.0	3.0	3.0					10																	105127982		1375	3098	4473	SO:0001589	frameshift_variant	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105127982delC	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.236delC	10.37:g.105127982delC	ENSP00000358854:p.Ala79fs					TAF5_ENST00000351396.4_Frame_Shift_Del_p.A79fs	p.A79fs	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	1	259	+		Colorectal(252;0.0747)|Breast(234;0.128)	79					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Frame_Shift_Del	DEL	ENST00000369839.3	37	c.236delC	CCDS7547.1																																																																																				0.756	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			2	4						2	4	---	---	---	---
PDX1	3651	broad.mit.edu	37	13	28494313	28494313	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P3-A6T6-01A-11D-A34J-08	TCGA-P3-A6T6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9	d1623ca9-854a-4331-a006-88e54166eb6f	g.chr13:28494313delT	ENST00000381033.4	+	1	157	c.38delT	c.(37-39)cttfs	p.L13fs	PDX1-AS1_ENST00000499662.2_RNA	NM_000209.3	NP_000200.1	O00330	ODPX_HUMAN	pancreatic and duodenal homeobox 1	0					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GCCACGCAGCTTTACAAGGAC	0.741																																						ENST00000381033.4																			0											c.(37-39)ctfs		pancreatic and duodenal homeobox 1							5.0	4.0	4.0					13																	28494313		1834	3710	5544	SO:0001589	frameshift_variant	3651				detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr13:28494313delT	AF035260	CCDS9327.1	13q12.1	2012-03-09	2006-12-01	2006-12-01	ENSG00000139515	ENSG00000139515		"""Homeoboxes / ANTP class : HOXL subclass"""	6107	protein-coding gene	gene with protein product	"""somatostatin transcription factor 1"""	600733	"""insulin promoter factor 1, homeodomain transcription factor"""	IPF1		7590740	Standard	NM_000209		Approved	IDX-1, STF-1, PDX-1, MODY4	uc001urt.2	P52945	OTTHUMG00000016638	ENST00000381033.4:c.38delT	13.37:g.28494313delT	ENSP00000370421:p.Leu13fs					PDX1-AS1_ENST00000499662.2_RNA	p.L13fs	NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	1	157	+	all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	13			Transactivation domain (By similarity).		B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Frame_Shift_Del	DEL	ENST00000381033.4	37	c.38delT	CCDS9327.1																																																																																				0.741	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044310.2	NM_000209		2	4						2	4	---	---	---	---
