#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
PPP1R16A	84988	broad.mit.edu	37	8	145726659	145726659	+	Silent	SNP	C	C	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr8:145726659C>T	ENST00000292539.4	+	10	2102	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.L395L|GPT_ENST00000394955.2_5'Flank|GPT_ENST00000528431.1_5'Flank			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	395						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCGCAGAGCTCAGGCCGCCGC	0.736																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(1183-1185)ctC>ctT		protein phosphatase 1, regulatory subunit 16A							11.0	14.0	13.0					8																	145726659		2159	4251	6410	SO:0001819	synonymous_variant	84988					plasma membrane	protein binding	g.chr8:145726659C>T		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1185C>T	8.37:g.145726659C>T						PPP1R16A_ENST00000435887.1_Silent_p.L395L	p.L395L			Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		10	2102	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		395					D3DWM5	Silent	SNP	ENST00000292539.4	37	c.1185C>T	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	C	5.441	0.266564	0.10294	.	.	ENSG00000160972	ENST00000528430	.	.	.	4.72	0.681	0.17986	.	.	.	.	.	T	0.42494	0.1205	.	.	.	0.46185	D	0.998917	.	.	.	.	.	.	T	0.19679	-1.0298	4	.	.	.	.	1.9091	0.03283	0.1462:0.3628:0.3119:0.1791	.	.	.	.	L	63	.	.	S	+	2	0	PPP1R16A	145697467	0.318000	0.24598	0.004000	0.12327	0.004000	0.04260	0.762000	0.26503	-0.190000	0.10465	-0.379000	0.06801	TCA		0.736	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		4	10	0	0	0	1	0	4	10				
GALNT3	2591	broad.mit.edu	37	2	166626873	166626873	+	Missense_Mutation	SNP	C	C	T	rs200762567		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr2:166626873C>T	ENST00000392701.3	-	2	1113	c.338G>A	c.(337-339)cGt>cAt	p.R113H		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	113					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CTGAGGTGGACGGTCAAGGAC	0.448																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(337-339)cGt>cAt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	158.0	144.0	149.0		338	5.7	1.0	2		149	0,8600		0,0,4300	yes	missense	GALNT3	NM_004482.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	113/634	166626873	2,13004	2203	4300	6503	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166626873C>T		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.338G>A	2.37:g.166626873C>T	ENSP00000376465:p.Arg113His						p.R113H	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			2	1113	-			113					Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.338G>A	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122026	0.94429	4.54E-4	0.0	ENSG00000115339	ENST00000392701;ENST00000412248	T;T	0.63255	0.26;-0.03	5.66	5.66	0.87406	.	0.000000	0.47455	U	0.000228	T	0.79941	0.4533	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	T	0.80892	-0.1179	10	0.72032	D	0.01	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	113;113	Q14435;Q14435-2	GALT3_HUMAN;.	H	113	ENSP00000376465:R113H;ENSP00000412643:R113H	ENSP00000376465:R113H	R	-	2	0	GALNT3	166335119	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.786000	0.85741	2.656000	0.90262	0.655000	0.94253	CGT		0.448	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		8	83	0	0	0	1	0	8	83				
LY6K	54742	broad.mit.edu	37	8	143781999	143781999	+	Silent	SNP	C	C	T	rs375943074		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr8:143781999C>T	ENST00000292430.6	+	1	471	c.54C>T	c.(52-54)gaC>gaT	p.D18D	LY6K_ENST00000561179.1_Silent_p.D76D|LY6K_ENST00000519387.1_Silent_p.D18D|LY6K_ENST00000522591.1_Silent_p.D18D|LY6K_ENST00000518841.1_Silent_p.D18D|CTD-2292P10.4_ENST00000520572.1_RNA			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	18						anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGTGGACAGACGCCAACCTGA	0.721																																						ENST00000522591.1																			0				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10						c.(52-54)gaC>gaT		lymphocyte antigen 6 complex, locus K		C	,,	0,4386		0,0,2193	17.0	19.0	18.0		54,54,54	-0.1	0.0	8		18	1,8581		0,1,4290	no	coding-synonymous,coding-synonymous,coding-synonymous	LY6K	NM_001160354.1,NM_001160355.1,NM_017527.3	,,	0,1,6483	TT,TC,CC		0.0117,0.0,0.0077	,,	18/121,18/106,18/166	143781999	1,12967	2193	4291	6484	SO:0001819	synonymous_variant	54742					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		g.chr8:143781999C>T	AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886			24225	protein-coding gene	gene with protein product	"""cancer/testis antigen 97"""	615093				12516096	Standard	NM_017527		Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000292430.6:c.54C>T	8.37:g.143781999C>T						LY6K_ENST00000292430.6_Silent_p.D18D|LY6K_ENST00000561179.1_Silent_p.D76D|LY6K_ENST00000518841.1_Silent_p.D18D|LY6K_ENST00000519387.1_Silent_p.D18D	p.D18D			Q17RY6	LY6K_HUMAN			1	110	+	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		18					G3V116|O15227|Q9BVD7	Silent	SNP	ENST00000292430.6	37	c.54C>T	CCDS6385.2	.	.	.	.	.	.	.	.	.	.	C	4.414	0.076500	0.08485	0.0	1.17E-4	ENSG00000160886	ENST00000522591	.	.	.	1.81	-0.12	0.13539	.	.	.	.	.	T	0.23370	0.0565	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	.	4.0594	0.09831	0.0:0.5845:0.0:0.4155	.	.	.	.	M	37	.	.	T	+	2	0	LY6K	143779001	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.205000	0.03014	-0.052000	0.13311	0.305000	0.20034	ACG		0.721	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379893.2	NM_017527		5	9	0	0	0	1	0	5	9				
NPR2	4882	broad.mit.edu	37	9	35800721	35800721	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr9:35800721T>G	ENST00000342694.2	+	6	1489	c.1234T>G	c.(1234-1236)Tcg>Gcg	p.S412A		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	412					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGCCCACTACTCGGGAGCTGA	0.617																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(1234-1236)Tcg>Gcg		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						51.0	52.0	52.0					9																	35800721		2203	4300	6503	SO:0001583	missense	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35800721T>G	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1234T>G	9.37:g.35800721T>G	ENSP00000341083:p.Ser412Ala						p.S412A	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		6	1489	+	all_epithelial(49;0.161)		412					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.1234T>G	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	T	9.097	1.003271	0.19121	.	.	ENSG00000159899	ENST00000342694	T	0.74842	-0.88	4.71	4.71	0.59529	.	0.000000	0.38111	N	0.001820	T	0.59905	0.2228	L	0.36672	1.1	0.32009	N	0.602389	B;B	0.21753	0.022;0.06	B;B	0.21917	0.037;0.03	T	0.57283	-0.7838	10	0.10377	T	0.69	.	9.0146	0.36161	0.1645:0.0:0.0:0.8355	.	412;412	P20594-2;P20594	.;ANPRB_HUMAN	A	412	ENSP00000341083:S412A	ENSP00000341083:S412A	S	+	1	0	NPR2	35790721	0.992000	0.36948	1.000000	0.80357	0.994000	0.84299	1.830000	0.39131	1.981000	0.57761	0.460000	0.39030	TCG		0.617	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			7	18	0	0	0	1	0	7	18				
RPP30	10556	broad.mit.edu	37	10	92660334	92660334	+	Silent	SNP	A	A	G			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr10:92660334A>G	ENST00000371703.3	+	11	976	c.705A>G	c.(703-705)agA>agG	p.R235R	RPP30_ENST00000413330.1_Silent_p.R235R|RPP30_ENST00000489806.1_3'UTR	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	235					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						CAGAAACTAGAAAAACTGCTT	0.388																																						ENST00000413330.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.(703-705)agA>agG		ribonuclease P/MRP 30kDa subunit							170.0	187.0	181.0					10																	92660334		2203	4300	6503	SO:0001819	synonymous_variant	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92660334A>G	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.705A>G	10.37:g.92660334A>G						RPP30_ENST00000489806.1_3'UTR|RPP30_ENST00000371703.3_Silent_p.R235R	p.R235R	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN			11	740	+			235					B2R799|E9PB02	Silent	SNP	ENST00000371703.3	37	c.705A>G	CCDS7411.1																																																																																				0.388	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413		41	88	0	0	0	1	0	41	88				
DNM1L	10059	broad.mit.edu	37	12	32886660	32886660	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr12:32886660A>T	ENST00000549701.1	+	13	1532	c.1458A>T	c.(1456-1458)ttA>ttT	p.L486F	DNM1L_ENST00000547312.1_Missense_Mutation_p.L486F|DNM1L_ENST00000553257.1_Missense_Mutation_p.L499F|DNM1L_ENST00000452533.2_Missense_Mutation_p.L486F|DNM1L_ENST00000381000.4_Missense_Mutation_p.L499F|DNM1L_ENST00000358214.5_Missense_Mutation_p.L499F|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000266481.6_Missense_Mutation_p.L486F|DNM1L_ENST00000414834.2_Missense_Mutation_p.L283F			O00429	DNM1L_HUMAN	dynamin 1-like	486	Interaction with GSK3B.|Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCCATAACTTAGTGGCAATTG	0.289																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(1456-1458)ttA>ttT		dynamin 1-like							201.0	208.0	205.0					12																	32886660		2203	4300	6503	SO:0001583	missense	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32886660A>T	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1458A>T	12.37:g.32886660A>T	ENSP00000450399:p.Leu486Phe					DNM1L_ENST00000547312.1_Missense_Mutation_p.L486F|DNM1L_ENST00000414834.2_Missense_Mutation_p.L283F|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Missense_Mutation_p.L499F|DNM1L_ENST00000358214.5_Missense_Mutation_p.L499F|DNM1L_ENST00000266481.6_Missense_Mutation_p.L486F|DNM1L_ENST00000553257.1_Missense_Mutation_p.L499F|DNM1L_ENST00000549701.1_Missense_Mutation_p.L486F	p.L486F	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			13	1622	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		486			Interaction with GSK3B.|Middle domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	c.1458A>T	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809491	0.70797	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.42	1.89	0.25635	Dynamin central domain (1);	0.133153	0.49916	D	0.000131	D	0.85775	0.5775	M	0.84156	2.68	0.58432	D	0.999996	D;P;P;P;P;P	0.71674	0.998;0.911;0.911;0.936;0.911;0.581	D;P;P;P;P;P	0.70487	0.969;0.782;0.702;0.577;0.702;0.589	D	0.84488	0.0609	10	0.72032	D	0.01	.	8.4264	0.32731	0.5574:0.0:0.4426:0.0	.	283;539;539;552;539;486	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	F	486;552;486;499;486;499;486;486;283;499	ENSP00000415131:L486F;ENSP00000449089:L499F;ENSP00000450399:L486F;ENSP00000350948:L499F;ENSP00000266481:L486F;ENSP00000448610:L486F;ENSP00000404160:L283F;ENSP00000370388:L499F	ENSP00000266479:L486F	L	+	3	2	DNM1L	32777927	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.895000	0.48648	0.388000	0.25054	0.460000	0.39030	TTA		0.289	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		17	169	0	0	0	1	0	17	169				
DBF4B	80174	broad.mit.edu	37	17	42828594	42828594	+	Silent	SNP	C	C	T	rs368247640		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr17:42828594C>T	ENST00000315005.3	+	14	1959	c.1821C>T	c.(1819-1821)tgC>tgT	p.C607C	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	607					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TTCTCCATTGCGGCTTCCTGG	0.542																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(1819-1821)tgC>tgT		DBF4 homolog B (S. cerevisiae)		C	,	0,4406		0,0,2203	49.0	49.0	49.0		,1821	-3.0	0.0	17		49	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	DBF4B	NM_025104.3,NM_145663.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,607/616	42828594	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42828594C>T	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1821C>T	17.37:g.42828594C>T						DBF4B_ENST00000393547.2_Intron	p.C607C	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN			14	1959	+		Prostate(33;0.0322)	607					D3DX56|Q8TEX0|Q96B19|Q9H912	Silent	SNP	ENST00000315005.3	37	c.1821C>T	CCDS11485.1																																																																																				0.542	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		5	46	0	0	0	1	0	5	46				
TET3	200424	broad.mit.edu	37	2	74274785	74274785	+	Missense_Mutation	SNP	A	A	C	rs372872964		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr2:74274785A>C	ENST00000409262.3	+	1	1336	c.1336A>C	c.(1336-1338)Aag>Cag	p.K446Q		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	446					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGAAGAAGAAGCTCCCAAC	0.597																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1336-1338)Aag>Cag		tet methylcytosine dioxygenase 3		A	GLN/LYS	0,3898		0,0,1949	33.0	40.0	38.0		1336	5.6	1.0	2		38	1,8241		0,1,4120	no	missense	TET3	NM_144993.1	53	0,1,6069	CC,CA,AA		0.0121,0.0,0.0082	probably-damaging	446/1661	74274785	1,12139	1949	4121	6070	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74274785A>C		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1336A>C	2.37:g.74274785A>C	ENSP00000386869:p.Lys446Gln						p.K446Q	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	1336	+			446					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.1336A>C	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.617028	0.46736	0.0	1.21E-4	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.30182	1.54;2.42	5.55	5.55	0.83447	.	.	.	.	.	T	0.37517	0.1006	L	0.27053	0.805	0.40471	D	0.980341	D	0.69078	0.997	P	0.58520	0.84	T	0.16660	-1.0395	9	0.41790	T	0.15	.	14.6812	0.69017	1.0:0.0:0.0:0.0	.	446	O43151	TET3_HUMAN	Q	488;446;446	ENSP00000307803:K488Q;ENSP00000386869:K446Q	ENSP00000233310:K446Q	K	+	1	0	TET3	74128293	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	8.569000	0.90744	2.115000	0.64714	0.482000	0.46254	AAG		0.597	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			5	11	0	0	0	1	0	5	11				
TGM6	343641	broad.mit.edu	37	20	2381056	2381056	+	Missense_Mutation	SNP	C	C	T	rs572902669		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr20:2381056C>T	ENST00000202625.2	+	7	1016	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	TGM6_ENST00000381423.1_Missense_Mutation_p.R319W|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	319					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CTCCTTCGGGCGGACCCTGGA	0.617																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(955-957)Cgg>Tgg		transglutaminase 6	L-Glutamine(DB00130)						109.0	96.0	100.0					20																	2381056		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2381056C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.955C>T	20.37:g.2381056C>T	ENSP00000202625:p.Arg319Trp					TGM6_ENST00000381423.1_Missense_Mutation_p.R319W|TGM6_ENST00000477505.1_3'UTR	p.R319W	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			7	1016	+			319					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.955C>T	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712286	0.68730	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.95588	-3.75;-3.75	4.4	1.11	0.20524	Transglutaminase-like (2);	0.307457	0.33691	N	0.004641	D	0.95629	0.8579	M	0.68952	2.095	0.30884	N	0.731155	D;D	0.89917	1.0;1.0	D;D	0.76575	0.978;0.988	D	0.91002	0.4843	10	0.87932	D	0	-9.1266	1.5033	0.02481	0.1667:0.4752:0.1623:0.1957	.	319;319	O95932-2;O95932	.;TGM3L_HUMAN	W	319	ENSP00000202625:R319W;ENSP00000370831:R319W	ENSP00000202625:R319W	R	+	1	2	TGM6	2329056	0.109000	0.22037	1.000000	0.80357	0.995000	0.86356	0.570000	0.23653	0.603000	0.29913	0.561000	0.74099	CGG		0.617	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		6	48	0	0	0	1	0	6	48				
SETD2	29072	broad.mit.edu	37	3	47161880	47161880	+	Nonsense_Mutation	SNP	C	C	A			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr3:47161880C>A	ENST00000409792.3	-	3	4288	c.4246G>T	c.(4246-4248)Gaa>Taa	p.E1416*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1416					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)			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)		CCATCACTTTCAGAATCACTC	0.423			"""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		0				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.(4246-4248)Gaa>Taa		SET domain containing 2							171.0	165.0	167.0					3																	47161880		2203	4300	6503	SO:0001587	stop_gained	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.chr3:47161880C>A	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.4246G>T	3.37:g.47161880C>A	ENSP00000386759:p.Glu1416*						p.E1416*	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	4288	-		Acute lymphoblastic leukemia(5;0.0169)	1416					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.4246G>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	41	8.649670	0.98899	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.871	0.92315	0.0:1.0:0.0:0.0	.	.	.	.	X	1416	.	ENSP00000386759:E1416X	E	-	1	0	SETD2	47136884	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.642000	0.83385	2.690000	0.91761	0.563000	0.77884	GAA		0.423	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		16	36	1	0	1.15088e-07	1	1.25363e-07	16	36				
NT5DC3	51559	broad.mit.edu	37	12	104186976	104186976	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr12:104186976C>T	ENST00000392876.3	-	9	1025	c.985G>A	c.(985-987)Gct>Act	p.A329T		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	329						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GGCTTCTCAGCCTGAACAATG	0.428																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(985-987)Gct>Act		5'-nucleotidase domain containing 3							186.0	195.0	192.0					12																	104186976		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104186976C>T	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.985G>A	12.37:g.104186976C>T	ENSP00000376615:p.Ala329Thr						p.A329T	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN			9	1025	-			329					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.985G>A	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	36	5.720555	0.96839	.	.	ENSG00000111696	ENST00000392876	T	0.47869	0.83	5.99	5.99	0.97316	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72360	-0.4317	10	0.62326	D	0.03	-28.8242	20.4777	0.99188	0.0:1.0:0.0:0.0	.	329	Q86UY8	NT5D3_HUMAN	T	329	ENSP00000376615:A329T	ENSP00000376615:A329T	A	-	1	0	NT5DC3	102711106	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GCT		0.428	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		59	122	0	0	0	1	0	59	122				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	71	0	0	0	1	0	3	71				
FOXA1	3169	broad.mit.edu	37	14	38061191	38061191	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr14:38061191G>T	ENST00000250448.2	-	2	859	c.798C>A	c.(796-798)ttC>ttA	p.F266L	FOXA1_ENST00000540786.1_Missense_Mutation_p.F233L|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	266					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCTCGCACTTGAAGCGCTTCT	0.726																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(796-798)ttC>ttA		forkhead box A1							9.0	11.0	10.0					14																	38061191		2191	4275	6466	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061191G>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.798C>A	14.37:g.38061191G>T	ENSP00000250448:p.Phe266Leu					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.F233L	p.F266L	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	859	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		266					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.798C>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269078	0.80469	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.93488	-3.22;-3.23	3.92	2.99	0.34606	.	0.000000	0.85682	D	0.000000	D	0.92743	0.7693	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.91888	0.5521	10	0.87932	D	0	.	7.7178	0.28715	0.2058:0.0:0.7942:0.0	.	266	P55317	FOXA1_HUMAN	L	266;233	ENSP00000250448:F266L;ENSP00000440178:F233L	ENSP00000250448:F266L	F	-	3	2	FOXA1	37130942	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.833000	0.55790	2.029000	0.59856	0.400000	0.26472	TTC		0.726	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			3	8	1	0	0.115264	1	0.119171	3	8				
RPN2	6185	broad.mit.edu	37	20	35833198	35833198	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr20:35833198G>A	ENST00000237530.6	+	6	895	c.584G>A	c.(583-585)gGg>gAg	p.G195E	RPN2_ENST00000373622.5_Missense_Mutation_p.G163E	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	195					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GATGAACTCGGGGGCGTGTAT	0.483																																						ENST00000237530.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(583-585)gGg>gAg		ribophorin II							145.0	140.0	142.0					20																	35833198		2203	4300	6503	SO:0001583	missense	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35833198G>A	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.584G>A	20.37:g.35833198G>A	ENSP00000237530:p.Gly195Glu					RPN2_ENST00000373622.5_Missense_Mutation_p.G163E	p.G195E	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN			6	895	+		Myeloproliferative disorder(115;0.00878)	195					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	c.584G>A	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640926	0.87859	.	.	ENSG00000118705	ENST00000456102;ENST00000237530;ENST00000373622;ENST00000373632;ENST00000338768	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	M	0.66939	2.045	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;0.996	D;D;D;D	0.75484	0.986;0.981;0.981;0.934	T	0.51624	-0.8682	10	0.12430	T	0.62	-14.8384	16.7195	0.85406	0.0:0.0:1.0:0.0	.	70;163;195;195	A6NKT1;Q5JYR6;P04844;B2RE46	.;.;RPN2_HUMAN;.	E	38;195;163;211;211	ENSP00000399137:G38E;ENSP00000237530:G195E;ENSP00000362724:G163E;ENSP00000362735:G211E	ENSP00000237530:G195E	G	+	2	0	RPN2	35266612	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	8.911000	0.92721	2.814000	0.96858	0.563000	0.77884	GGG		0.483	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		6	111	0	0	0	1	0	6	111				
IL22RA2	116379	broad.mit.edu	37	6	137476210	137476210	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr6:137476210G>T	ENST00000296980.2	-	5	640	c.340C>A	c.(340-342)Caa>Aaa	p.Q114K	IL22RA2_ENST00000349184.4_Missense_Mutation_p.Q82K|IL22RA2_ENST00000339602.3_Missense_Mutation_p.Q82K	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	114	Fibronectin type-III 2.				cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516)	cytosol (GO:0005829)|extracellular space (GO:0005615)	interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018)			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		GAGAGTTCTTGAGTACCCCAA	0.473																																						ENST00000296980.2																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(340-342)Caa>Aaa		interleukin 22 receptor, alpha 2							168.0	164.0	165.0					6																	137476210		2203	4300	6503	SO:0001583	missense	0				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity	g.chr6:137476210G>T	AY044429	CCDS5182.1, CCDS5183.1, CCDS5184.1	6q24.1-q24.2	2008-02-05			ENSG00000164485	ENSG00000164485		"""Interleukins and interleukin receptors"""	14901	protein-coding gene	gene with protein product		606648				11481447, 11390454	Standard	NM_181309		Approved	CRF2-S1, IL-22BP	uc003qhl.3	Q969J5	OTTHUMG00000015655	ENST00000296980.2:c.340C>A	6.37:g.137476210G>T	ENSP00000296980:p.Gln114Lys					IL22RA2_ENST00000349184.4_Missense_Mutation_p.Q82K|IL22RA2_ENST00000339602.3_Missense_Mutation_p.Q82K	p.Q114K	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN		GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)	5	640	-	Colorectal(23;0.24)		114			Fibronectin type-III 2.		Q08AH7|Q6UWM1|Q96A41|Q96QR0	Missense_Mutation	SNP	ENST00000296980.2	37	c.340C>A	CCDS5182.1	.	.	.	.	.	.	.	.	.	.	G	4.952	0.176887	0.09443	.	.	ENSG00000164485	ENST00000349184;ENST00000296980;ENST00000339602	T;T;T	0.73469	-0.75;-0.75;-0.75	5.77	3.92	0.45320	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.955450	0.08816	N	0.889549	T	0.44871	0.1314	L	0.35341	1.055	0.09310	N	1	B;B;B	0.31351	0.149;0.169;0.32	B;B;B	0.34991	0.031;0.079;0.193	T	0.36890	-0.9729	10	0.21014	T	0.42	.	7.6124	0.28137	0.0874:0.0:0.7402:0.1724	.	82;82;114	Q969J5-3;Q969J5-2;Q969J5	.;.;I22R2_HUMAN	K	82;114;82	ENSP00000296979:Q82K;ENSP00000296980:Q114K;ENSP00000340920:Q82K	ENSP00000296980:Q114K	Q	-	1	0	IL22RA2	137517903	0.980000	0.34600	0.006000	0.13384	0.725000	0.41563	1.857000	0.39399	1.515000	0.48885	0.655000	0.94253	CAA		0.473	IL22RA2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042399.1			32	86	1	0	2.47316e-13	1	2.84646e-13	32	86				
OR10AG1	282770	broad.mit.edu	37	11	55735784	55735784	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr11:55735784A>C	ENST00000312345.2	-	1	206	c.156T>G	c.(154-156)ttT>ttG	p.F52L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TGCTAAGAAAAAAATACATGG	0.323																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(154-156)ttT>ttG		olfactory receptor, family 10, subfamily AG, member 1							52.0	60.0	58.0					11																	55735784		2199	4296	6495	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735784A>C	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.156T>G	11.37:g.55735784A>C	ENSP00000311477:p.Phe52Leu						p.F52L	NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN			1	206	-	Esophageal squamous(21;0.0137)		52					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.156T>G	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.579788	0.46006	.	.	ENSG00000174970	ENST00000312345	T	0.00551	6.65	5.36	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000089	T	0.01421	0.0046	M	0.74647	2.275	0.29709	N	0.839512	D	0.67145	0.996	P	0.62184	0.899	T	0.26052	-1.0114	10	0.72032	D	0.01	.	6.8692	0.24111	0.7338:0.0:0.2662:0.0	.	52	Q8NH19	O10AG_HUMAN	L	52	ENSP00000311477:F52L	ENSP00000311477:F52L	F	-	3	2	OR10AG1	55492360	0.912000	0.30974	0.989000	0.46669	0.282000	0.26991	0.416000	0.21198	0.379000	0.24794	0.391000	0.25812	TTT		0.323	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		19	37	0	0	0	1	0	19	37				
GUCY1A2	2977	broad.mit.edu	37	11	106810741	106810741	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr11:106810741C>G	ENST00000526355.2	-	4	1119	c.651G>C	c.(649-651)caG>caC	p.Q217H	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.Q217H|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.Q217H	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	217					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CCAGAGTGGCCTGTTTTCCAA	0.463																																						ENST00000526355.1																			0				breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(649-651)caG>caC		guanylate cyclase 1, soluble, alpha 2							97.0	104.0	101.0					11																	106810741		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106810741C>G	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.651G>C	11.37:g.106810741C>G	ENSP00000431245:p.Gln217His					GUCY1A2_ENST00000347596.2_Missense_Mutation_p.Q217H|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.Q217H	p.Q217H	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	4	1119	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	217					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.651G>C	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306708	0.40795	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.87179	-1.89;-2.22;-1.89	5.01	4.1	0.47936	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.42964	U	0.000622	D	0.89305	0.6677	L	0.43152	1.355	0.48696	D	0.99969	D;D;D	0.67145	0.996;0.987;0.996	D;P;P	0.64877	0.93;0.905;0.897	D	0.88930	0.3372	10	0.52906	T	0.07	.	12.3228	0.54993	0.0:0.9182:0.0:0.0818	.	217;217;217	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	H	217	ENSP00000431245:Q217H;ENSP00000282249:Q217H;ENSP00000344874:Q217H	ENSP00000282249:Q217H	Q	-	3	2	GUCY1A2	106315951	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	2.711000	0.47177	1.108000	0.41662	0.591000	0.81541	CAG		0.463	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			16	49	0	0	0	1	0	16	49				
GPANK1	7918	broad.mit.edu	37	6	31630284	31630284	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr6:31630284C>T	ENST00000375906.1	-	4	1514	c.830G>A	c.(829-831)cGg>cAg	p.R277Q	GPANK1_ENST00000375895.2_Missense_Mutation_p.R277Q|C6orf47-AS1_ENST00000422049.1_RNA|GPANK1_ENST00000375900.4_Missense_Mutation_p.R277Q|GPANK1_ENST00000375893.2_Missense_Mutation_p.R277Q|C6orf47_ENST00000375911.1_5'Flank|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375896.4_Missense_Mutation_p.R277Q|CSNK2B_ENST00000375885.4_5'Flank	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	277	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						GCCCTCACCCCGGGGTCCCAG	0.647																																						ENST00000375906.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						c.(829-831)cGg>cAg		G patch domain and ankyrin repeats 1							49.0	53.0	52.0					6																	31630284		1510	2709	4219	SO:0001583	missense	7918					intracellular	nucleic acid binding	g.chr6:31630284C>T		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.830G>A	6.37:g.31630284C>T	ENSP00000365071:p.Arg277Gln					GPANK1_ENST00000375900.4_Missense_Mutation_p.R277Q|GPANK1_ENST00000375896.4_Missense_Mutation_p.R277Q|GPANK1_ENST00000375895.2_Missense_Mutation_p.R277Q|GPANK1_ENST00000375893.2_Missense_Mutation_p.R277Q	p.R277Q	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN			4	1514	-			277			G-patch.		A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	ENST00000375906.1	37	c.830G>A	CCDS4711.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.877030	0.51801	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.0	5.0	0.66597	D111/G-patch (3);	0.340710	0.27206	N	0.020422	T	0.08223	0.0205	N	0.16037	0.36	0.34864	D	0.742897	P	0.48162	0.906	B	0.42771	0.397	T	0.06499	-1.0823	10	0.15499	T	0.54	-6.9137	9.2453	0.37523	0.0:0.9045:0.0:0.0955	.	277	O95872	GPAN1_HUMAN	Q	277	ENSP00000365071:R277Q;ENSP00000365060:R277Q;ENSP00000365057:R277Q;ENSP00000365059:R277Q;ENSP00000365065:R277Q	ENSP00000365057:R277Q	R	-	2	0	GPANK1	31738263	0.997000	0.39634	0.986000	0.45419	0.986000	0.74619	2.663000	0.46774	2.595000	0.87683	0.655000	0.94253	CGG		0.647	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		11	17	0	0	0	1	0	11	17				
ADAMTS16	170690	broad.mit.edu	37	5	5239847	5239847	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr5:5239847G>C	ENST00000274181.7	+	16	2470	c.2332G>C	c.(2332-2334)Gaa>Caa	p.E778Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	778	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCGCATCTATGAAATGAACGT	0.483																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2332-2334)Gaa>Caa		ADAM metallopeptidase with thrombospondin type 1 motif, 16							150.0	141.0	144.0					5																	5239847		1892	4111	6003	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239847G>C	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2332G>C	5.37:g.5239847G>C	ENSP00000274181:p.Glu778Gln						p.E778Q	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			16	2470	+			778			Spacer.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2332G>C	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520844	0.85495	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.55760	0.5	5.56	5.56	0.83823	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.966	T	0.70260	-0.4921	10	0.24483	T	0.36	.	18.2879	0.90120	0.0:0.0:1.0:0.0	.	778;778	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	Q	778	ENSP00000274181:E778Q	ENSP00000274181:E778Q	E	+	1	0	ADAMTS16	5292847	1.000000	0.71417	0.030000	0.17652	0.870000	0.49936	8.985000	0.93487	2.615000	0.88500	0.655000	0.94253	GAA		0.483	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		5	104	0	0	0	1	0	5	104				
PCDH11X	27328	broad.mit.edu	37	X	91133932	91133932	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chrX:91133932G>A	ENST00000373094.1	+	2	3538	c.2693G>A	c.(2692-2694)aGt>aAt	p.S898N	PCDH11X_ENST00000406881.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S898N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S898N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S898N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S898N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	898					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GATGTTGACAGTGATGGAAAC	0.378																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2692-2694)aGt>aAt		protocadherin 11 X-linked							94.0	86.0	89.0					X																	91133932		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133932G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2693G>A	X.37:g.91133932G>A	ENSP00000362186:p.Ser898Asn					PCDH11X_ENST00000361655.2_Missense_Mutation_p.S898N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S898N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S898N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S898N	p.S898N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3538	+			898					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2693G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.284634	0.00251	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.16	2.8	0.32819	Protocadherin (1);	0.221979	0.45361	N	0.000376	T	0.05090	0.0136	N	0.00162	-1.95	0.19300	N	0.999972	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.40683	-0.9550	10	0.02654	T	1	.	6.5188	0.22262	0.7433:0.1701:0.0866:0.0	.	898;898;898;898;898;898;898;898	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	N	898	ENSP00000378746:S898N;ENSP00000362186:S898N;ENSP00000362189:S898N;ENSP00000355040:S898N;ENSP00000362180:S898N;ENSP00000423762:S898N;ENSP00000355105:S898N;ENSP00000384758:S898N;ENSP00000298274:S898N	ENSP00000298274:S898N	S	+	2	0	PCDH11X	91020588	1.000000	0.71417	0.998000	0.56505	0.401000	0.30781	4.602000	0.61098	0.190000	0.20209	-0.296000	0.09543	AGT		0.378	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		21	20	0	0	0	1	0	21	20				
MTOR	2475	broad.mit.edu	37	1	11190607	11190607	+	Silent	SNP	C	C	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:11190607C>T	ENST00000361445.4	-	39	5668	c.5592G>A	c.(5590-5592)ccG>ccA	p.P1864P	MTOR_ENST00000376838.1_Silent_p.P69P|MTOR_ENST00000495435.1_5'Flank	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1864	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCTTCTGCAGCGGCGATGGGG	0.582																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5590-5592)ccG>ccA		mechanistic target of rapamycin (serine/threonine kinase)							97.0	88.0	91.0					1																	11190607		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11190607C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5592G>A	1.37:g.11190607C>T						MTOR_ENST00000376838.1_Silent_p.P69P	p.P1864P	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			39	5668	-			1864			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.5592G>A	CCDS127.1																																																																																				0.582	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		3	31	0	0	0	1	0	3	31				
LCOR	84458	broad.mit.edu	37	10	98711871	98711871	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr10:98711871G>C	ENST00000371097.4	+	7	796	c.250G>C	c.(250-252)Gat>Cat	p.D84H	LCOR_ENST00000356016.3_Missense_Mutation_p.D84H|LCOR_ENST00000540664.1_Missense_Mutation_p.D84H|LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000371103.3_Missense_Mutation_p.D84H			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	84					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		CGGTGTACTTGATCTGTCCAC	0.438																																						ENST00000540664.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13						c.(250-252)Gat>Cat		ligand dependent nuclear receptor corepressor							105.0	104.0	104.0					10																	98711871		2203	4300	6503	SO:0001583	missense	84458							g.chr10:98711871G>C		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.250G>C	10.37:g.98711871G>C	ENSP00000360138:p.Asp84His					LCOR_ENST00000371103.3_Missense_Mutation_p.D84H|LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000356016.3_Missense_Mutation_p.D84H|LCOR_ENST00000371097.4_Missense_Mutation_p.D84H	p.D84H	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1				Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)	7	793	+		Colorectal(252;0.162)						D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	37	c.250G>C	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698270	0.88830	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.78278	0.4258	L	0.60455	1.87	0.54753	D	0.999987	D;D	0.76494	0.998;0.999	D;D	0.79784	0.993;0.984	T	0.78196	-0.2298	9	0.87932	D	0	-3.7524	20.4324	0.99085	0.0:0.0:1.0:0.0	.	84;84	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	H	84	.	ENSP00000348298:D84H	D	+	1	0	LCOR	98701861	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.849000	0.86908	2.833000	0.97629	0.585000	0.79938	GAT		0.438	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			10	29	0	0	0	1	0	10	29				
LRRC2	79442	broad.mit.edu	37	3	46586569	46586569	+	Silent	SNP	C	C	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr3:46586569C>T	ENST00000395905.3	-	3	692	c.300G>A	c.(298-300)gcG>gcA	p.A100A	LRRC2_ENST00000496388.1_5'Flank|LRRC2_ENST00000296144.3_Silent_p.A100A	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	100										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CAAACACAAACGCACTGCTCC	0.552																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(298-300)gcG>gcA		leucine rich repeat containing 2							249.0	215.0	227.0					3																	46586569		2203	4300	6503	SO:0001819	synonymous_variant	79442							g.chr3:46586569C>T	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.300G>A	3.37:g.46586569C>T						LRRC2_ENST00000296144.3_Silent_p.A100A	p.A100A	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	3	692	-		Ovarian(412;0.0563)	100					B2RDQ7|Q96LT5	Silent	SNP	ENST00000395905.3	37	c.300G>A	CCDS2741.1																																																																																				0.552	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			5	208	0	0	0	1	0	5	208				
PTPRK	5796	broad.mit.edu	37	6	128306873	128306873	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr6:128306873G>C	ENST00000368215.3	-	22	3240	c.3241C>G	c.(3241-3243)Cat>Gat	p.H1081D	PTPRK_ENST00000368207.3_Missense_Mutation_p.H1114D|PTPRK_ENST00000532331.1_Missense_Mutation_p.H1104D|PTPRK_ENST00000368210.3_Missense_Mutation_p.H1100D|PTPRK_ENST00000368226.4_Missense_Mutation_p.H1082D|PTPRK_ENST00000368213.5_Missense_Mutation_p.H1088D|PTPRK_ENST00000368227.3_Missense_Mutation_p.H1099D			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1081	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TACCTGCAATGTACAACGATG	0.473																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3295-3297)Cat>Gat		protein tyrosine phosphatase, receptor type, K							143.0	131.0	135.0					6																	128306873		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128306873G>C	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3241C>G	6.37:g.128306873G>C	ENSP00000357198:p.His1081Asp					PTPRK_ENST00000368215.3_Missense_Mutation_p.H1081D|PTPRK_ENST00000368207.3_Missense_Mutation_p.H1114D|PTPRK_ENST00000368210.3_Missense_Mutation_p.H1100D|PTPRK_ENST00000368226.4_Missense_Mutation_p.H1082D|PTPRK_ENST00000368213.5_Missense_Mutation_p.H1088D|PTPRK_ENST00000532331.1_Missense_Mutation_p.H1104D	p.H1099D			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	23	3661	-			1081			Tyrosine-protein phosphatase 1.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3295C>G		.	.	.	.	.	.	.	.	.	.	G	25.2	4.610569	0.87258	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.88171	0.6365	H	0.99894	4.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.996;0.995	D;D;D;D	0.97110	1.0;1.0;0.996;0.994	D	0.93401	0.6760	10	0.87932	D	0	.	20.0864	0.97801	0.0:0.0:1.0:0.0	.	1104;1088;1081;1082	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	D	1082;1099;1104;1088;1100;1081;1114	ENSP00000357209:H1082D;ENSP00000357210:H1099D;ENSP00000432973:H1104D;ENSP00000357196:H1088D;ENSP00000357193:H1100D;ENSP00000357198:H1081D;ENSP00000357190:H1114D	ENSP00000357190:H1114D	H	-	1	0	PTPRK	128348566	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	9.837000	0.99465	2.753000	0.94483	0.650000	0.86243	CAT		0.473	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			10	20	0	0	0	1	0	10	20				
SHC3	53358	broad.mit.edu	37	9	91657077	91657077	+	Silent	SNP	C	C	T	rs369413725		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr9:91657077C>T	ENST00000375835.4	-	10	1530	c.1224G>A	c.(1222-1224)acG>acA	p.T408T	SHC3_ENST00000375831.1_5'Flank|SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	408	CH1.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TCCCTTCTGGCGTGCTGTAGA	0.572																																						ENST00000375835.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						c.(1222-1224)acG>acA		SHC (Src homology 2 domain containing) transforming protein 3		C		1,4405	2.1+/-5.4	0,1,2202	115.0	120.0	118.0		1224	-0.7	0.0	9		118	0,8600		0,0,4300	no	coding-synonymous	SHC3	NM_016848.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		408/595	91657077	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91657077C>T	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.1224G>A	9.37:g.91657077C>T						SHC3_ENST00000375830.1_5'UTR	p.T408T	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN			10	1530	-			408			CH1.		Q5T7I7|Q8TAP2|Q9UCX5	Silent	SNP	ENST00000375835.4	37	c.1224G>A	CCDS6681.1																																																																																				0.572	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		19	64	0	0	0	1	0	19	64				
PELI1	57162	broad.mit.edu	37	2	64323320	64323320	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr2:64323320G>A	ENST00000358912.4	-	6	1071	c.629C>T	c.(628-630)tCg>tTg	p.S210L		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	210					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|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 protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						TCCACACACCGATATTTCTCT	0.418																																						ENST00000358912.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						c.(628-630)tCg>tTg		pellino E3 ubiquitin protein ligase 1							184.0	167.0	173.0					2																	64323320		2203	4300	6503	SO:0001583	missense	57162				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		g.chr2:64323320G>A		CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"""Pellino homologs"""	8827	protein-coding gene	gene with protein product		614797	"""pellino (Drosophila) homolog 1"", ""pellino homolog 1 (Drosophila)"""			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.629C>T	2.37:g.64323320G>A	ENSP00000351789:p.Ser210Leu						p.S210L	NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN			6	1071	-			210					Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	ENST00000358912.4	37	c.629C>T	CCDS1876.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438397	0.96168	.	.	ENSG00000197329	ENST00000358912	T	0.59364	0.27	5.65	5.65	0.86999	.	0.052053	0.85682	D	0.000000	T	0.80964	0.4725	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.83639	0.0149	10	0.87932	D	0	-13.6183	20.0965	0.97849	0.0:0.0:1.0:0.0	.	210	Q96FA3	PELI1_HUMAN	L	210	ENSP00000351789:S210L	ENSP00000351789:S210L	S	-	2	0	PELI1	64176824	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	9.813000	0.99286	2.824000	0.97209	0.655000	0.94253	TCG		0.418	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651		25	76	0	0	0	1	0	25	76				
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S157S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S157S(5)	endometrium(3)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(469-471)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	14.0	12.0					9																	20414373		1757	3647	5404	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414373G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.471C>T	9.37:g.20414373G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S	p.S157S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	757	-			157			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.471C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	53	0	0	0	1	0	4	53				
PPP4R4	57718	broad.mit.edu	37	14	94674828	94674828	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr14:94674828T>G	ENST00000304338.3	+	3	373	c.219T>G	c.(217-219)agT>agG	p.S73R	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.S73R	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	73					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAGGAACAAGTGTGATTGCAA	0.368																																						ENST00000304338.3																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(217-219)agT>agG		protein phosphatase 4, regulatory subunit 4							87.0	84.0	85.0					14																	94674828		2203	4300	6503	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94674828T>G	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.219T>G	14.37:g.94674828T>G	ENSP00000305924:p.Ser73Arg					PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.S73R	p.S73R	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN			3	373	+			73					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.219T>G	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931340	0.73442	.	.	ENSG00000119698	ENST00000304338;ENST00000328839	.	.	.	5.51	1.73	0.24493	Armadillo-like helical (1);Armadillo-type fold (1);	0.086468	0.85682	D	0.000000	T	0.71074	0.3297	M	0.77103	2.36	0.36510	D	0.86952	D;D	0.89917	1.0;0.983	D;P	0.79108	0.992;0.731	T	0.74259	-0.3723	9	0.87932	D	0	-12.7804	7.6837	0.28528	0.0:0.2728:0.0:0.7272	.	73;73	Q6NUP7;Q6NUP7-2	PP4R4_HUMAN;.	R	73	.	ENSP00000305924:S73R	S	+	3	2	PPP4R4	93744581	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	0.965000	0.29319	0.337000	0.23665	0.402000	0.26972	AGT		0.368	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		4	17	0	0	0	1	0	4	17				
ZSWIM8	23053	broad.mit.edu	37	10	75561146	75561146	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr10:75561146C>T	ENST00000605216.1	+	26	5600	c.5383C>T	c.(5383-5385)Cgc>Tgc	p.R1795C	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1754C|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.R1792C|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1613C|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1800C|ZSWIM8-AS1_ENST00000456638.2_RNA	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1795							zinc ion binding (GO:0008270)										CCGGAGTGCCCGCAGCGCCTT	0.582																																						ENST00000604729.1																			0											c.(5374-5376)Cgc>Tgc		zinc finger, SWIM-type containing 8							75.0	81.0	79.0					10																	75561146		2197	4284	6481	SO:0001583	missense	23053							g.chr10:75561146C>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5383C>T	10.37:g.75561146C>T	ENSP00000474748:p.Arg1795Cys					ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1613C|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1754C|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R1795C|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1800C|NDST2_ENST00000456638.1_5'UTR	p.R1792C							26	5671	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.5374C>T		.	.	.	.	.	.	.	.	.	.	C	17.11	3.304957	0.60305	.	.	ENSG00000214655	ENST00000398706	T	0.62788	-0.0	6.17	5.28	0.74379	.	.	.	.	.	T	0.74137	0.3677	.	.	.	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.63113	0.911;0.911;0.911;0.911	T	0.77040	-0.2735	8	0.87932	D	0	-0.0153	8.7648	0.34696	0.239:0.6872:0.0:0.0737	.	1795;1799;1787;1800	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	K0913_HUMAN;.;.;.	C	1800	ENSP00000381693:R1800C	ENSP00000381693:R1800C	R	+	1	0	KIAA0913	75231152	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.324000	0.43831	1.636000	0.50526	0.655000	0.94253	CGC		0.582	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		3	43	0	0	0	1	0	3	43				
HIST2H2AC	8338	broad.mit.edu	37	1	149858550	149858550	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:149858550G>T	ENST00000331380.2	+	1	26	c.26G>T	c.(25-27)gGc>gTc	p.G9V	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	9						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AAACAAGGAGGCAAGGCCCGC	0.567																																						ENST00000331380.2																			0				NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(25-27)gGc>gTc		histone cluster 2, H2ac							81.0	89.0	87.0					1																	149858550		2202	4300	6502	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858550G>T	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.26G>T	1.37:g.149858550G>T	ENSP00000332194:p.Gly9Val						p.G9V	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	26	+	Breast(34;0.0124)|all_hematologic(923;0.127)		9					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.26G>T	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636691	0.47049	.	.	ENSG00000184260	ENST00000331380	T	0.46451	0.87	5.81	5.81	0.92471	Histone-fold (2);Histone H2A (1);	0.000000	0.45361	D	0.000379	T	0.62146	0.2404	M	0.89601	3.045	0.80722	D	1	D	0.67145	0.996	P	0.56343	0.796	T	0.70741	-0.4789	10	0.87932	D	0	.	18.6409	0.91396	0.0:0.0:1.0:0.0	.	9	Q16777	H2A2C_HUMAN	V	9	ENSP00000332194:G9V	ENSP00000332194:G9V	G	+	2	0	HIST2H2AC	148125174	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.651000	0.98493	2.745000	0.94114	0.655000	0.94253	GGC		0.567	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		5	84	1	0	0.184627	1	0.184627	5	84				
KAL1	3730	broad.mit.edu	37	X	8555966	8555966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chrX:8555966G>A	ENST00000262648.3	-	5	744	c.595C>T	c.(595-597)Cag>Tag	p.Q199*		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	199	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ACCTCCAGCTGTCCAGACTGC	0.423																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(595-597)Cag>Tag		Kallmann syndrome 1 sequence							81.0	68.0	73.0					X																	8555966		2203	4300	6503	SO:0001587	stop_gained	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8555966G>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.595C>T	X.37:g.8555966G>A	ENSP00000262648:p.Gln199*						p.Q199*	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			5	744	-			199			Fibronectin type-III 1.		B2RPF8	Nonsense_Mutation	SNP	ENST00000262648.3	37	c.595C>T	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360725	0.95877	.	.	ENSG00000011201	ENST00000262648	.	.	.	4.05	3.13	0.36017	.	0.433100	0.25250	N	0.032031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	12.0731	0.53628	0.0:0.319:0.681:0.0	.	.	.	.	X	199	.	ENSP00000262648:Q199X	Q	-	1	0	KAL1	8515966	1.000000	0.71417	0.447000	0.26932	0.972000	0.66771	3.241000	0.51376	1.633000	0.50488	0.600000	0.82982	CAG		0.423	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		12	5	0	0	0	1	0	12	5				
SLC2A3	6515	broad.mit.edu	37	12	8083194	8083194	+	Silent	SNP	C	C	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr12:8083194C>T	ENST00000075120.7	-	5	795	c.555G>A	c.(553-555)ccG>ccA	p.P185P		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	185					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.P185P(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CCAGTAGCAGCGGCCATAGCT	0.443																																					Colon(96;424 1461 14416 20933 23688)	ENST00000075120.7																			1	Substitution - coding silent(1)	p.P185P(1)	large_intestine(1)	central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(553-555)ccG>ccA		solute carrier family 2 (facilitated glucose transporter), member 3							104.0	101.0	102.0					12																	8083194		2203	4300	6503	SO:0001819	synonymous_variant	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8083194C>T	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.555G>A	12.37:g.8083194C>T							p.P185P	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN		Kidney(36;0.0866)	5	795	-			185					B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	c.555G>A	CCDS8586.1																																																																																				0.443	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		4	77	0	0	0	1	0	4	77				
PTPLAD2	401494	broad.mit.edu	37	9	21026653	21026653	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr9:21026653T>C	ENST00000495827.2	-	3	257	c.212A>G	c.(211-213)gAa>gGa	p.E71G	PTPLAD2_ENST00000488436.1_5'UTR|PTPLAD2_ENST00000513293.2_Missense_Mutation_p.E71G	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	71					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		GTGCAGCAGTTCCAGGAGAGA	0.378																																						ENST00000495827.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(211-213)gAa>gGa		protein tyrosine phosphatase-like A domain containing 2							158.0	161.0	160.0					9																	21026653		1907	4128	6035	SO:0001583	missense	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21026653T>C		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.212A>G	9.37:g.21026653T>C	ENSP00000419503:p.Glu71Gly					PTPLAD2_ENST00000488436.1_5'UTR|PTPLAD2_ENST00000513293.2_Missense_Mutation_p.E71G	p.E71G	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	3	257	-			71					Q7Z385	Missense_Mutation	SNP	ENST00000495827.2	37	c.212A>G	CCDS43791.1	.	.	.	.	.	.	.	.	.	.	T	19.83	3.901070	0.72754	.	.	ENSG00000188921	ENST00000513293;ENST00000495827	T;T	0.54675	0.56;0.56	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	M	0.84773	2.715	0.52501	D	0.999954	D	0.89917	1.0	D	0.91635	0.999	T	0.79654	-0.1713	10	0.87932	D	0	-20.6028	14.417	0.67158	0.0:0.0:0.0:1.0	.	71	Q5VWC8	HACD4_HUMAN	G	71	ENSP00000426475:E71G;ENSP00000419503:E71G	ENSP00000419503:E71G	E	-	2	0	PTPLAD2	21016653	1.000000	0.71417	0.999000	0.59377	0.562000	0.35680	5.748000	0.68697	2.270000	0.75569	0.533000	0.62120	GAA		0.378	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915		6	96	0	0	0	1	0	6	96				
SHQ1	55164	broad.mit.edu	37	3	72873608	72873608	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr3:72873608T>C	ENST00000325599.8	-	6	833	c.694A>G	c.(694-696)Aag>Gag	p.K232E	SHQ1_ENST00000463369.1_Missense_Mutation_p.K204E	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	232					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TCCTGACTCTTTTCCAAAAAG	0.353																																						ENST00000325599.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(694-696)Aag>Gag		SHQ1, H/ACA ribonucleoprotein assembly factor							94.0	91.0	92.0					3																	72873608		2201	4298	6499	SO:0001583	missense	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72873608T>C	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.694A>G	3.37:g.72873608T>C	ENSP00000315182:p.Lys232Glu					SHQ1_ENST00000463369.1_Missense_Mutation_p.K204E	p.K232E	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	6	833	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	232					B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	c.694A>G	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	T	4.622	0.115518	0.08831	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.33865	1.43;1.39	5.61	1.96	0.26148	.	0.268756	0.37393	N	0.002117	T	0.16896	0.0406	N	0.16478	0.41	0.28889	N	0.893963	B	0.15473	0.013	B	0.14023	0.01	T	0.27434	-1.0074	10	0.07813	T	0.8	-8.0472	7.2291	0.26033	0.0:0.4084:0.0:0.5916	.	232	Q6PI26	SHQ1_HUMAN	E	232;204	ENSP00000315182:K232E;ENSP00000417452:K204E	ENSP00000315182:K232E	K	-	1	0	SHQ1	72956298	0.000000	0.05858	0.954000	0.39281	0.086000	0.17979	-0.151000	0.10175	0.413000	0.25759	0.533000	0.62120	AAG		0.353	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		21	29	0	0	0	1	0	21	29				
SZT2	23334	broad.mit.edu	37	1	43913641	43913641	+	Splice_Site	SNP	C	C	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:43913641C>T	ENST00000562955.1	+	67	9391	c.9391C>T	c.(9391-9393)Cgg>Tgg	p.R3131W	SZT2_ENST00000372442.1_Splice_Site_p.R2289W|SZT2-AS1_ENST00000396885.2_RNA	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3188					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCACGTTCTGCGGTCAGCAGA	0.582																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.e67+1		seizure threshold 2 homolog (mouse)							83.0	80.0	81.0					1																	43913641		2203	4300	6503	SO:0001630	splice_region_variant	23334					peroxisome		g.chr1:43913641C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.9392+1C>T	1.37:g.43913641C>T						SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Splice_Site_p.R2289_splice	p.R3131_splice	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			67	9391	+			3188					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Splice_Site	SNP	ENST00000562955.1	37	c.9392_splice	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432693	0.43224	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.39	3.45	0.39498	.	0.097261	0.64402	D	0.000002	T	0.59756	0.2217	L	0.43152	1.355	0.29034	N	0.885548	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.58736	-0.7584	9	0.56958	D	0.05	.	13.8447	0.63459	0.5402:0.4598:0.0:0.0	.	3188;3131	Q5T011;Q5T011-5	SZT2_HUMAN;.	W	2289	.	ENSP00000361519:R2289W	R	+	1	2	SZT2	43686228	0.397000	0.25270	0.975000	0.42487	0.942000	0.58702	0.691000	0.25467	0.692000	0.31613	0.563000	0.77884	CGG		0.582	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	Missense_Mutation	3	43	0	0	0	1	0	3	43				
TLR4	7099	broad.mit.edu	37	9	120474878	120474878	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr9:120474878G>T	ENST00000355622.6	+	3	573	c.472G>T	c.(472-474)Gct>Tct	p.A158S	TLR4_ENST00000394487.4_Missense_Mutation_p.A118S|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	158					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ACTTAATGTGGCTCACAATCT	0.373																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(472-474)Gct>Tct		toll-like receptor 4							95.0	99.0	98.0					9																	120474878		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120474878G>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.472G>T	9.37:g.120474878G>T	ENSP00000363089:p.Ala158Ser					TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.A118S	p.A158S	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	573	+			158					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.472G>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793122	0.70452	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.07800	3.16;3.16	5.08	5.08	0.68730	.	0.093681	0.46442	D	0.000284	T	0.05135	0.0137	N	0.00500	-1.43	0.31806	N	0.627758	B	0.32425	0.371	P	0.49829	0.623	T	0.47923	-0.9079	10	0.13853	T	0.58	.	12.8696	0.57957	0.0783:0.0:0.9217:0.0	.	158	O00206	TLR4_HUMAN	S	118;158	ENSP00000377997:A118S;ENSP00000363089:A158S	ENSP00000363089:A158S	A	+	1	0	TLR4	119514699	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	4.647000	0.61418	2.360000	0.80028	0.655000	0.94253	GCT		0.373	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		12	39	1	0	0.010729	1	0.011284	12	39				
ZNF653	115950	broad.mit.edu	37	19	11596494	11596494	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr19:11596494C>T	ENST00000293771.5	-	7	1683	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CATGTGCCGCCGCAGGTGGTT	0.592																																					Pancreas(83;980 1446 4542 6441 43352)	ENST00000293771.5																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						c.(1546-1548)cGg>cAg		zinc finger protein 653							164.0	144.0	151.0					19																	11596494		2203	4300	6503	SO:0001583	missense	115950				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11596494C>T	AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1547G>A	19.37:g.11596494C>T	ENSP00000293771:p.Arg516Gln					CTC-398G3.6_ENST00000585656.1_Intron	p.R516Q	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN			7	1683	-			516					Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	c.1547G>A	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455365	0.84209	.	.	ENSG00000161914	ENST00000293771	T	0.20598	2.06	4.84	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.067138	0.64402	D	0.000013	T	0.34135	0.0887	L	0.33137	0.985	0.40885	D	0.984026	D	0.67145	0.996	D	0.62955	0.909	T	0.11299	-1.0593	10	0.59425	D	0.04	-29.0679	17.1129	0.86680	0.0:1.0:0.0:0.0	.	516	Q96CK0	ZN653_HUMAN	Q	516	ENSP00000293771:R516Q	ENSP00000293771:R516Q	R	-	2	0	ZNF653	11457494	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	2.601000	0.46249	2.415000	0.81967	0.561000	0.74099	CGG		0.592	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		5	53	0	0	0	1	0	5	53				
IGSF10	285313	broad.mit.edu	37	3	151165044	151165044	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr3:151165044T>C	ENST00000282466.3	-	4	2724	c.2725A>G	c.(2725-2727)Atg>Gtg	p.M909V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	909					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTCTTCCCATCTGGTCAGAG	0.433																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(2725-2727)Atg>Gtg		immunoglobulin superfamily, member 10							300.0	300.0	300.0					3																	151165044		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165044T>C	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2725A>G	3.37:g.151165044T>C	ENSP00000282466:p.Met909Val						p.M909V	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2724	-			909					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.2725A>G	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	2.864	-0.235530	0.05944	.	.	ENSG00000152580	ENST00000282466	T	0.66995	-0.24	4.89	-0.606	0.11619	.	2.263860	0.01853	N	0.036025	T	0.37183	0.0994	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36138	-0.9760	10	0.02654	T	1	.	0.1234	0.00067	0.3488:0.1806:0.1844:0.2861	.	909	Q6WRI0	IGS10_HUMAN	V	909	ENSP00000282466:M909V	ENSP00000282466:M909V	M	-	1	0	IGSF10	152647734	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.893000	0.04127	-0.032000	0.13758	-0.468000	0.05107	ATG		0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		9	177	0	0	0	1	0	9	177				
OR7D2	162998	broad.mit.edu	37	19	9296635	9296635	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr19:9296635T>A	ENST00000344248.2	+	1	357	c.178T>A	c.(178-180)Tac>Aac	p.Y60N		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	60					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CACCCCCATGTACTTCTTCCT	0.537																																						ENST00000344248.2																			0				breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(178-180)Tac>Aac		olfactory receptor, family 7, subfamily D, member 2							108.0	101.0	103.0					19																	9296635		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296635T>A	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.178T>A	19.37:g.9296635T>A	ENSP00000345563:p.Tyr60Asn						p.Y60N	NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN			1	357	+			60					Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.178T>A	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.033767	0.54896	.	.	ENSG00000188000	ENST00000344248	T	0.11821	2.74	2.21	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36338	U	0.002659	T	0.50939	0.1645	H	0.99379	4.54	0.31999	N	0.603628	D	0.76494	0.999	D	0.79108	0.992	T	0.65356	-0.6188	10	0.87932	D	0	.	6.8707	0.24119	0.0:0.0:0.2342:0.7658	.	60	Q96RA2	OR7D2_HUMAN	N	60	ENSP00000345563:Y60N	ENSP00000345563:Y60N	Y	+	1	0	OR7D2	9157635	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.930000	0.63462	1.296000	0.44742	0.418000	0.28097	TAC		0.537	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			33	51	0	0	0	1	0	33	51				
PVRL3	25945	broad.mit.edu	37	3	110845029	110845029	+	Splice_Site	SNP	A	A	G			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr3:110845029A>G	ENST00000485303.1	+	5	1192		c.e5-1		PVRL3_ENST00000493615.1_Splice_Site|PVRL3_ENST00000319792.3_Splice_Site	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TTTAAAATCTAGGTTGGATGG	0.294																																						ENST00000485303.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						c.e5-1		poliovirus receptor-related 3							57.0	55.0	56.0					3																	110845029		2202	4297	6499	SO:0001630	splice_region_variant	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110845029A>G	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.918-1A>G	3.37:g.110845029A>G						PVRL3_ENST00000493615.1_Splice_Site|PVRL3_ENST00000319792.3_Splice_Site		NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN			5	1192	+								E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Splice_Site	SNP	ENST00000485303.1	37		CCDS2957.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.940118	0.73557	.	.	ENSG00000177707	ENST00000485303;ENST00000319792;ENST00000486596;ENST00000493615	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8259	0.63351	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PVRL3	112327719	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.388000	0.79795	2.205000	0.71048	0.477000	0.44152	.		0.294	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480	Intron	4	38	0	0	0	1	0	4	38				
SYNE1	23345	broad.mit.edu	37	6	152461140	152461140	+	Missense_Mutation	SNP	C	C	T	rs143049227		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr6:152461140C>T	ENST00000367255.5	-	140	26004	c.25403G>A	c.(25402-25404)cGt>cAt	p.R8468H	SYNE1_ENST00000341594.5_Missense_Mutation_p.R8080H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8468H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2992H|SYNE1_ENST00000539504.1_Missense_Mutation_p.R623H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8420H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.R646H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8420H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8468			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R8468H(5)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGTTCCAGACGCTGGAGCTG	0.557										HNSCC(10;0.0054)																												ENST00000367255.5																			5	Substitution - Missense(5)	p.R8468H(5)	NS(2)|central_nervous_system(2)|large_intestine(1)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(25402-25404)cGt>cAt		spectrin repeat containing, nuclear envelope 1		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	119.0	97.0	104.0		25259,25403	1.6	0.0	6	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	8420/8750,8468/8798	152461140	2,13004	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152461140C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25403G>A	6.37:g.152461140C>T	ENSP00000356224:p.Arg8468His	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.R8420H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8468H|SYNE1_ENST00000354674.4_Missense_Mutation_p.R646H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8420H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R8080H|SYNE1_ENST00000539504.1_Missense_Mutation_p.R623H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2992H	p.R8468H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	140	26004	-		Ovarian(120;0.0955)	8468		R -> H (in a colorectal cancer sample; somatic mutation).			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25403G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	6.556	0.470783	0.12461	2.27E-4	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.92	1.61	0.23674	.	0.227351	0.31156	N	0.008147	T	0.14442	0.0349	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.15930	0.015;0.015;0.012;0.015;0.008	B;B;B;B;B	0.17433	0.018;0.018;0.011;0.018;0.013	T	0.32481	-0.9905	10	0.21540	T	0.41	.	9.0212	0.36202	0.0:0.6038:0.0:0.3962	.	8468;8468;8420;8420;670	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	H	8468;623;1114;8420;8468;8420;8080;2992;653;648;1413;646	ENSP00000356224:R8468H;ENSP00000441052:R623H;ENSP00000356226:R1114H;ENSP00000396024:R8420H;ENSP00000265368:R8468H;ENSP00000390975:R8420H;ENSP00000341887:R8080H;ENSP00000349276:R2992H;ENSP00000356220:R1413H;ENSP00000346701:R646H	ENSP00000265368:R8468H	R	-	2	0	SYNE1	152502833	0.000000	0.05858	0.037000	0.18230	0.206000	0.24218	-0.096000	0.11059	0.000000	0.14550	-0.254000	0.11334	CGT		0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		11	54	0	0	0	1	0	11	54				
VANGL2	57216	broad.mit.edu	37	1	160395042	160395042	+	Silent	SNP	A	A	G			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:160395042A>G	ENST00000368061.2	+	8	1914	c.1440A>G	c.(1438-1440)ttA>ttG	p.L480L		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	480					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.L480F(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTTCCTCTTAAAACGCCAGG	0.527																																						ENST00000368061.2																			1	Substitution - Missense(1)	p.L480F(1)	lung(1)	biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(1438-1440)ttA>ttG		VANGL planar cell polarity protein 2							91.0	79.0	83.0					1																	160395042		2203	4300	6503	SO:0001819	synonymous_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160395042A>G	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1440A>G	1.37:g.160395042A>G							p.L480L	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		8	1914	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		480					D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	c.1440A>G	CCDS30915.1																																																																																				0.527	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		9	28	0	0	0	1	0	9	28				
CDKN1B	1027	broad.mit.edu	37	12	12870888	12870888	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr12:12870888G>T	ENST00000228872.4	+	1	831	c.115G>T	c.(115-117)Gaa>Taa	p.E39*	CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.E39*|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	39					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)	p.E39Q(1)		breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GGTGGACCACGAAGAGTTAAC	0.602																																						ENST00000228872.4																			1	Substitution - Missense(1)	p.E39Q(1)	lung(1)	breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(115-117)Gaa>Taa		cyclin-dependent kinase inhibitor 1B (p27, Kip1)							63.0	73.0	70.0					12																	12870888		2203	4300	6503	SO:0001587	stop_gained	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12870888G>T	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.115G>T	12.37:g.12870888G>T	ENSP00000228872:p.Glu39*					CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.E39*	p.E39*	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	831	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	39					Q16307|Q5U0H2|Q9BUS6	Nonsense_Mutation	SNP	ENST00000228872.4	37	c.115G>T	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	G	45	11.507607	0.99570	.	.	ENSG00000111276	ENST00000228872;ENST00000396340;ENST00000442489	.	.	.	5.15	4.26	0.50523	.	0.066188	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-18.9193	13.4138	0.60958	0.077:0.0:0.923:0.0	.	.	.	.	X	39;39;32	.	ENSP00000228872:E39X	E	+	1	0	CDKN1B	12762155	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.356000	0.97091	1.176000	0.42840	0.655000	0.94253	GAA		0.602	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		5	70	1	0	4.096e-09	1	4.54284e-09	5	70				
GRM3	2913	broad.mit.edu	37	7	86415592	86415592	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr7:86415592C>T	ENST00000361669.2	+	3	1583	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.R162W|GRM3_ENST00000394720.2_Missense_Mutation_p.R160W|GRM3_ENST00000536043.1_Missense_Mutation_p.R34W|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	162					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AAACCTGCTGCGGCTCTTCCA	0.517																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(484-486)Cgg>Tgg		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						150.0	162.0	158.0					7																	86415592		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86415592C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.484C>T	7.37:g.86415592C>T	ENSP00000355316:p.Arg162Trp					GRM3_ENST00000394720.2_Missense_Mutation_p.R160W|GRM3_ENST00000439827.1_Missense_Mutation_p.R162W|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.R34W	p.R162W	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1583	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		162					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.484C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084401	0.55861	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	5.68	-5.47	0.02600	GPCR, family 3, conserved site (1);Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91583	0.7341	M	0.92317	3.295	0.54753	D	0.999989	D;D;D	0.76494	0.999;0.997;0.999	D;P;D	0.68353	0.957;0.823;0.933	D	0.92091	0.5680	10	0.87932	D	0	.	20.1228	0.97969	0.7697:0.2303:0.0:0.0	.	34;162;162	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	W	162;34;34;162;160	ENSP00000355316:R162W;ENSP00000405427:R34W;ENSP00000441407:R34W;ENSP00000398767:R162W;ENSP00000378209:R160W	ENSP00000355316:R162W	R	+	1	2	GRM3	86253528	0.000000	0.05858	0.010000	0.14722	0.934000	0.57294	-0.195000	0.09546	-0.695000	0.05105	0.655000	0.94253	CGG		0.517	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			16	137	0	0	0	1	0	16	137				
ERMARD	55780	broad.mit.edu	37	6	170156863	170156863	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr6:170156863C>G	ENST00000366773.3	+	5	499	c.466C>G	c.(466-468)Ctt>Gtt	p.L156V	ERMARD_ENST00000366772.2_Missense_Mutation_p.L156V|ERMARD_ENST00000418781.3_Missense_Mutation_p.L156V|ERMARD_ENST00000588451.1_Missense_Mutation_p.L30V|ERMARD_ENST00000392095.4_Missense_Mutation_p.L30V	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	156					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AAGAGATCTGCTTTCATCTGA	0.358																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(88-90)Ctt>Gtt									190.0	187.0	188.0					6																	170156863		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr6:170156863C>G	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.466C>G	6.37:g.170156863C>G	ENSP00000355735:p.Leu156Val					C6orf70_ENST00000392095.4_Missense_Mutation_p.L30V|C6orf70_ENST00000418781.3_Missense_Mutation_p.L156V|C6orf70_ENST00000366772.2_Missense_Mutation_p.L156V|C6orf70_ENST00000366773.3_Missense_Mutation_p.L156V	p.L30V			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	5	601	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	156					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.88C>G	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645947	0.29246	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	T;T	0.74421	-0.84;-0.74	5.75	2.99	0.34606	.	0.000000	0.56097	D	0.000040	T	0.78898	0.4356	M	0.83483	2.645	0.19945	N	0.999943	P;P;D	0.89917	0.944;0.854;1.0	B;B;D	0.87578	0.441;0.441;0.998	T	0.72404	-0.4304	10	0.87932	D	0	.	9.0749	0.36515	0.2629:0.6673:0.0:0.0697	.	156;156;156	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	V	156;156;156;30	ENSP00000355735:L156V;ENSP00000375945:L30V	ENSP00000355734:L156V	L	+	1	0	C6orf70	169898788	1.000000	0.71417	0.005000	0.12908	0.039000	0.13416	3.244000	0.51399	0.342000	0.23796	0.563000	0.77884	CTT		0.358	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		4	109	0	0	0	1	0	4	109				
DDX60	55601	broad.mit.edu	37	4	169204662	169204662	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr4:169204662T>C	ENST00000393743.3	-	13	1948	c.1657A>G	c.(1657-1659)Atc>Gtc	p.I553V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	553					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTCACGATGATTTTCGAAGAG	0.348																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(1657-1659)Atc>Gtc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							67.0	69.0	68.0					4																	169204662		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169204662T>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1657A>G	4.37:g.169204662T>C	ENSP00000377344:p.Ile553Val						p.I553V	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	13	1948	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	553					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.1657A>G	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-2.916476	0.00055	.	.	ENSG00000137628	ENST00000393743	T	0.16073	2.37	4.39	-8.79	0.00820	.	1.603320	0.03786	N	0.262129	T	0.02848	0.0085	N	0.00230	-1.795	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29579	-1.0007	10	0.02654	T	1	.	8.7433	0.34571	0.0633:0.5297:0.1085:0.2985	.	553	Q8IY21	DDX60_HUMAN	V	553	ENSP00000377344:I553V	ENSP00000377344:I553V	I	-	1	0	DDX60	169441237	0.000000	0.05858	0.101000	0.21167	0.133000	0.20885	-2.573000	0.00912	-2.472000	0.00529	-1.516000	0.00938	ATC		0.348	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		9	59	0	0	0	1	0	9	59				
ZNF48	197407	broad.mit.edu	37	16	30410427	30410427	+	Nonstop_Mutation	SNP	G	G	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr16:30410427G>T	ENST00000320159.2	+	2	2232	c.1856G>T	c.(1855-1857)tGa>tTa	p.*619L		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGACTGGAATGACGCGGTCCA	0.642																																						ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(1855-1857)tGa>tTa		zinc finger protein 48							46.0	47.0	47.0					16																	30410427		2197	4300	6497	SO:0001578	stop_lost	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30410427G>T	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1856G>T	16.37:g.30410427G>T	ENSP00000324056:p.*619Leuext*19						p.*619L	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN			2	2232	+			0					Q15920|Q4G0R3|Q69YP3|Q96IL9	Nonstop_Mutation	SNP	ENST00000320159.2	37	c.1856G>T	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	G	0.736	-0.778217	0.02929	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	.	.	.	4.61	1.54	0.23209	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7391	0.23424	0.2997:0.0:0.7003:0.0	.	.	.	.	L	744;619	.	.	X	+	2	2	ZNF48	30317928	0.000000	0.05858	0.892000	0.35008	0.224000	0.24922	0.378000	0.20569	0.276000	0.22118	0.563000	0.77884	TGA		0.642	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		4	28	1	0	0.150653	1	0.153164	4	28				
LSS	4047	broad.mit.edu	37	21	47641788	47641788	+	Missense_Mutation	SNP	C	C	T	rs142081800		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr21:47641788C>T	ENST00000397728.3	-	5	608	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000356396.4_Missense_Mutation_p.R177Q|LSS_ENST00000522411.1_Missense_Mutation_p.R166Q|LSS_ENST00000457828.2_Missense_Mutation_p.R97Q|LSS_ENST00000464357.1_5'UTR	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	177					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AAGAATGTTCCGGGCTCGTAC	0.517																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21						c.(529-531)cGg>cAg		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	151.0	129.0	137.0		530,497,290,530	4.6	1.0	21	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	LSS	NM_001001438.2,NM_001145436.1,NM_001145437.1,NM_002340.5	43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	177/733,166/722,97/653,177/733	47641788	1,13005	2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47641788C>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.530G>A	21.37:g.47641788C>T	ENSP00000380837:p.Arg177Gln					AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000457828.2_Missense_Mutation_p.R97Q|LSS_ENST00000522411.1_Missense_Mutation_p.R166Q|LSS_ENST00000356396.4_Missense_Mutation_p.R177Q	p.R177Q	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN			5	608	-	Breast(49;0.214)		177					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.530G>A	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181489	0.94885	0.0	1.16E-4	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411;ENST00000450351	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	4.58	4.58	0.56647	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.80914	0.4715	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.84349	0.0531	10	0.66056	D	0.02	.	17.3189	0.87231	0.0:1.0:0.0:0.0	.	166;177	E9PEI9;P48449	.;ERG7_HUMAN	Q	177;97;177;166;178	ENSP00000348762:R177Q;ENSP00000409191:R97Q;ENSP00000380837:R177Q;ENSP00000429133:R166Q;ENSP00000391368:R178Q	ENSP00000348762:R177Q	R	-	2	0	LSS	46466216	1.000000	0.71417	0.998000	0.56505	0.568000	0.35870	7.611000	0.82962	2.261000	0.74972	0.643000	0.83706	CGG		0.517	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			16	32	0	0	0	1	0	16	32				
RPL10A	4736	broad.mit.edu	37	6	35437188	35437188	+	Silent	SNP	T	T	A			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr6:35437188T>A	ENST00000322203.6	+	4	219	c.192T>A	c.(190-192)tcT>tcA	p.S64S	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	64					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						CTAAGTTCTCTGTGTGTGTCC	0.572																																						ENST00000322203.6																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(190-192)tcT>tcA		ribosomal protein L10a							49.0	48.0	48.0					6																	35437188		2203	4300	6503	SO:0001819	synonymous_variant	4736				anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35437188T>A	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.192T>A	6.37:g.35437188T>A						RPL10A_ENST00000467020.1_3'UTR	p.S64S	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN			4	219	+			64					B2R801|P52859|P53025|Q5TZT6|Q8J013	Silent	SNP	ENST00000322203.6	37	c.192T>A	CCDS4806.1																																																																																				0.572	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		12	27	0	0	0	1	0	12	27				
TPD52L1	7164	broad.mit.edu	37	6	125584048	125584048	+	Silent	SNP	C	C	G			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr6:125584048C>G	ENST00000534000.1	+	7	851	c.555C>G	c.(553-555)gcC>gcG	p.A185A	TPD52L1_ENST00000368402.5_3'UTR|TPD52L1_ENST00000524679.1_3'UTR|TPD52L1_ENST00000368388.2_3'UTR|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000527711.1_Silent_p.A172A|TPD52L1_ENST00000532429.1_Silent_p.A156A|TPD52L1_ENST00000534199.1_3'UTR|TPD52L1_ENST00000304877.13_Silent_p.A190A|TPD52L1_ENST00000392482.2_3'UTR|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000528193.1_3'UTR	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	185					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CGGCCCATGCCAGTGCCCAGA	0.577																																						ENST00000534000.1																			0				endometrium(2)|large_intestine(2)|prostate(1)	5						c.(553-555)gcC>gcG		tumor protein D52-like 1							52.0	48.0	49.0					6																	125584048		2203	4300	6503	SO:0001819	synonymous_variant	0				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr6:125584048C>G	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.555C>G	6.37:g.125584048C>G						TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000368402.5_3'UTR|TPD52L1_ENST00000527711.1_Silent_p.A172A|TPD52L1_ENST00000532429.1_Silent_p.A156A|TPD52L1_ENST00000534199.1_3'UTR|TPD52L1_ENST00000368388.2_3'UTR|TPD52L1_ENST00000392482.2_3'UTR|TPD52L1_ENST00000528193.1_3'UTR|TPD52L1_ENST00000524679.1_3'UTR|TPD52L1_ENST00000304877.13_Silent_p.A190A	p.A185A	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	7	851	+			185					A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Silent	SNP	ENST00000534000.1	37	c.555C>G	CCDS5130.1																																																																																				0.577	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2			12	28	0	0	0	1	0	12	28				
SLC8A1	6546	broad.mit.edu	37	2	40656809	40656809	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr2:40656809G>T	ENST00000403092.1	-	2	645	c.612C>A	c.(610-612)ttC>ttA	p.F204L	SLC8A1_ENST00000542024.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.F204L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F204L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F204L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000406785.2_Missense_Mutation_p.F204L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.F204L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	204					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTGTCACAAAGAAGACACGCA	0.448																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(610-612)ttC>ttA		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						79.0	78.0	78.0					2																	40656809		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656809G>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.612C>A	2.37:g.40656809G>T	ENSP00000384763:p.Phe204Leu					SLC8A1_ENST00000542756.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.F204L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F204L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F204L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.F204L	p.F204L			P32418	NAC1_HUMAN			2	801	-			204					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.612C>A	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036937	0.54896	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.59	4.72	0.59763	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.78142	0.4237	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.979;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.986;1.0;0.995;1.0	T	0.80804	-0.1219	10	0.87932	D	0	.	12.2536	0.54611	0.0821:0.0:0.9179:0.0	.	204;204;204;204;204	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	L	204	ENSP00000383886:F204L;ENSP00000440727:F204L;ENSP00000384763:F204L;ENSP00000385678:F204L;ENSP00000385188:F204L;ENSP00000385535:F204L;ENSP00000332931:F204L;ENSP00000384908:F204L;ENSP00000385811:F204L;ENSP00000443515:F204L	ENSP00000332931:F204L	F	-	3	2	SLC8A1	40510313	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	3.559000	0.53756	1.385000	0.46445	-0.251000	0.11542	TTC		0.448	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		13	23	1	0	6.72482e-11	1	7.59656e-11	13	23				
NINL	22981	broad.mit.edu	37	20	25456887	25456887	+	Missense_Mutation	SNP	C	C	A	rs563958229		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr20:25456887C>A	ENST00000278886.6	-	17	3113	c.3040G>T	c.(3040-3042)Gtg>Ttg	p.V1014L	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1014					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCAACCTCCACACTGTGCTTG	0.687																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(3040-3042)Gtg>Ttg		ninein-like							59.0	63.0	61.0					20																	25456887		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25456887C>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3040G>T	20.37:g.25456887C>A	ENSP00000278886:p.Val1014Leu					NINL_ENST00000422516.1_Intron	p.V1014L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			17	3113	-			1014					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3040G>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	1.343	-0.593535	0.03771	.	.	ENSG00000101004	ENST00000278886	T	0.05786	3.39	0.235	0.235	0.15431	.	12.145900	0.00166	N	0.000000	T	0.05090	0.0136	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.36432	-0.9748	9	0.28530	T	0.3	4.3717	.	.	.	.	1014	Q9Y2I6	NINL_HUMAN	L	1014	ENSP00000278886:V1014L	ENSP00000278886:V1014L	V	-	1	0	NINL	25404887	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	-1.677000	0.01944	0.308000	0.22923	0.313000	0.20887	GTG		0.687	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		5	69	1	0	1.23904e-05	1	1.32599e-05	5	69				
TMCC2	9911	broad.mit.edu	37	1	205197784	205197784	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:205197784C>T	ENST00000358024.3	+	1	481	c.92C>T	c.(91-93)gCg>gTg	p.A31V	TMCC2_ENST00000545499.1_5'Flank	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	31						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTGCCGGGCGCGGACCTCCGG	0.672																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(91-93)gCg>gTg		transmembrane and coiled-coil domain family 2							30.0	34.0	33.0					1																	205197784		2203	4300	6503	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205197784C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.92C>T	1.37:g.205197784C>T	ENSP00000350718:p.Ala31Val						p.A31V	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		1	481	+	Breast(84;0.0871)		31					A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.92C>T	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297025	0.60086	.	.	ENSG00000133069	ENST00000358024	T	0.32515	1.45	4.88	3.89	0.44902	.	0.529873	0.17510	N	0.171645	T	0.16471	0.0396	N	0.14661	0.345	0.80722	D	1	B	0.23806	0.091	B	0.15052	0.012	T	0.08330	-1.0727	10	0.87932	D	0	.	6.3718	0.21485	0.0:0.7135:0.1881:0.0983	.	31	O75069	TMCC2_HUMAN	V	31	ENSP00000350718:A31V	ENSP00000350718:A31V	A	+	2	0	TMCC2	203464407	0.359000	0.24955	1.000000	0.80357	0.905000	0.53344	0.005000	0.13129	2.402000	0.81655	0.563000	0.77884	GCG		0.672	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		5	38	0	0	0	1	0	5	38				
RANGAP1	5905	broad.mit.edu	37	22	41650402	41650402	+	Silent	SNP	C	C	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr22:41650402C>T	ENST00000455915.2	-	10	2639	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	390	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.E390E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cctcctcctcctcttcttcct	0.562																																						ENST00000455915.2																			1	Substitution - coding silent(1)	p.E390E(1)	kidney(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1168-1170)gaG>gaA		Ran GTPase activating protein 1							233.0	159.0	184.0					22																	41650402		2203	4300	6503	SO:0001819	synonymous_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650402C>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1170G>A	22.37:g.41650402C>T						RANGAP1_ENST00000407260.4_Silent_p.E335E|RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000405486.1_Silent_p.E390E	p.E390E			P46060	RAGP1_HUMAN			10	2639	-			390			Asp/Glu-rich (highly acidic).		Q96JJ2	Silent	SNP	ENST00000455915.2	37	c.1170G>A	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		3	37	0	0	0	1	0	3	37				
PRAMEF4	400735	broad.mit.edu	37	1	12943195	12943195	+	Silent	SNP	A	A	G			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:12943195A>G	ENST00000235349.5	-	2	91	c.21T>C	c.(19-21)acT>acC	p.T7T		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	7					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCTGGGTGGAGTCCAGATGC	0.562																																						ENST00000235349.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24						c.(19-21)acT>acC		PRAME family member 4							125.0	135.0	132.0					1																	12943195		2187	4284	6471	SO:0001819	synonymous_variant	400735							g.chr1:12943195A>G		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.21T>C	1.37:g.12943195A>G							p.T7T	NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	91	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	7					Q5LJB5	Silent	SNP	ENST00000235349.5	37	c.21T>C	CCDS30592.1																																																																																				0.562	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		16	149	0	0	0	1	0	16	149				
CSMD2	114784	broad.mit.edu	37	1	34038130	34038130	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:34038130G>A	ENST00000373381.4	-	50	7914	c.7738C>T	c.(7738-7740)Cgc>Tgc	p.R2580C		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2582	Sushi 15. {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)				GGGACATTGCGGTTGCTCCAT	0.592																																						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.(7738-7740)Cgc>Tgc		CUB and Sushi multiple domains 2							147.0	128.0	134.0					1																	34038130		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34038130G>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.7738C>T	1.37:g.34038130G>A	ENSP00000362479:p.Arg2580Cys						p.R2580C	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			50	7914	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2582			Sushi 15.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.7738C>T		.	.	.	.	.	.	.	.	.	.	G	16.19	3.053000	0.55218	.	.	ENSG00000121904	ENST00000373381	T	0.65732	-0.17	5.65	1.23	0.21249	Complement control module (2);Sushi/SCR/CCP (3);	0.808927	0.11597	N	0.548176	T	0.55737	0.1939	L	0.38175	1.15	0.09310	N	1	P;P	0.42871	0.792;0.507	P;P	0.46144	0.505;0.505	T	0.46775	-0.9167	10	0.56958	D	0.05	.	8.2447	0.31682	0.0:0.4795:0.2893:0.2312	.	2582;2580	Q7Z408;E7EUA6	CSMD2_HUMAN;.	C	2580	ENSP00000362479:R2580C	ENSP00000241312:R2582C	R	-	1	0	CSMD2	33810717	0.004000	0.15560	0.813000	0.32504	0.811000	0.45836	0.535000	0.23114	0.262000	0.21774	0.591000	0.81541	CGC		0.592	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		10	63	0	0	0	1	0	10	63				
MIOS	54468	broad.mit.edu	37	7	7635987	7635987	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr7:7635987T>A	ENST00000340080.4	+	11	2717	c.2296T>A	c.(2296-2298)Tca>Aca	p.S766T	MIOS_ENST00000405785.1_Missense_Mutation_p.S766T	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	766						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						TGTGAGTGGCTCACCAACGAA	0.463																																						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.(2296-2298)Tca>Aca		missing oocyte, meiosis regulator, homolog (Drosophila)							190.0	181.0	184.0					7																	7635987		1974	4156	6130	SO:0001583	missense	54468							g.chr7:7635987T>A		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.2296T>A	7.37:g.7635987T>A	ENSP00000339881:p.Ser766Thr					MIOS_ENST00000405785.1_Missense_Mutation_p.S766T	p.S766T	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			11	2717	+			766					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.2296T>A	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	T	9.703	1.154980	0.21371	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.50548	0.74;0.74	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	N	0.13168	0.305	0.80722	D	1	B;B	0.19583	0.037;0.037	B;B	0.22386	0.039;0.039	T	0.13683	-1.0500	10	0.12766	T	0.61	-17.3887	16.085	0.81038	0.0:0.0:0.0:1.0	.	766;766	B4DGE7;Q9NXC5	.;MIO_HUMAN	T	766	ENSP00000339881:S766T;ENSP00000384088:S766T	ENSP00000339881:S766T	S	+	1	0	MIOS	7602512	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.671000	0.83941	2.267000	0.75376	0.383000	0.25322	TCA		0.463	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		22	60	0	0	0	1	0	22	60				
SLC8A1	6546	broad.mit.edu	37	2	40656834	40656834	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr2:40656834C>G	ENST00000403092.1	-	2	620	c.587G>C	c.(586-588)aGg>aCg	p.R196T	SLC8A1_ENST00000542024.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R196T|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R196T|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R196T|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000406785.2_Missense_Mutation_p.R196T|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R196T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	196					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTTAATCTTCCTTGTCTCTCC	0.463																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(586-588)aGg>aCg		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						81.0	78.0	79.0					2																	40656834		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656834C>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.587G>C	2.37:g.40656834C>G	ENSP00000384763:p.Arg196Thr					SLC8A1_ENST00000542756.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R196T|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R196T|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R196T|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R196T	p.R196T			P32418	NAC1_HUMAN			2	776	-			196					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.587G>C	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654558	0.67472	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.59	5.59	0.84812	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	M	0.89658	3.05	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.991;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.991;1.0;1.0;1.0	D	0.86401	0.1742	10	0.87932	D	0	.	17.1057	0.86662	0.0:1.0:0.0:0.0	.	196;196;196;196;196	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	T	196	ENSP00000383886:R196T;ENSP00000440727:R196T;ENSP00000384763:R196T;ENSP00000385678:R196T;ENSP00000385188:R196T;ENSP00000385535:R196T;ENSP00000332931:R196T;ENSP00000384908:R196T;ENSP00000385811:R196T;ENSP00000443515:R196T	ENSP00000332931:R196T	R	-	2	0	SLC8A1	40510338	1.000000	0.71417	0.990000	0.47175	0.933000	0.57130	7.663000	0.83820	2.648000	0.89879	0.563000	0.77884	AGG		0.463	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		14	27	0	0	0	1	0	14	27				
NAPSA	9476	broad.mit.edu	37	19	50862276	50862276	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr19:50862276C>T	ENST00000253719.2	-	8	1235	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	343					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)	p.V343I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		ACCTGGATGACGTAATCATGG	0.557																																						ENST00000253719.2																			1	Substitution - Missense(1)	p.V343I(1)	kidney(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(1027-1029)Gtc>Atc		napsin A aspartic peptidase							94.0	91.0	92.0					19																	50862276		2203	4300	6503	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50862276C>T	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1027G>A	19.37:g.50862276C>T	ENSP00000253719:p.Val343Ile					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.V343I	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	8	1235	-		all_neural(266;0.057)	343					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.1027G>A	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258115	0.23051	.	.	ENSG00000131400	ENST00000253719	T	0.59638	0.25	3.48	3.48	0.39840	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.268585	0.35870	N	0.002932	T	0.54287	0.1849	N	0.21282	0.65	0.44221	D	0.997051	D	0.76494	0.999	D	0.81914	0.995	T	0.50311	-0.8843	10	0.11794	T	0.64	.	7.083	0.25241	0.0:0.867:0.0:0.133	.	343	O96009	NAPSA_HUMAN	I	343	ENSP00000253719:V343I	ENSP00000253719:V343I	V	-	1	0	NAPSA	55554088	0.954000	0.32549	1.000000	0.80357	0.265000	0.26407	1.492000	0.35594	1.649000	0.50652	0.313000	0.20887	GTC		0.557	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		4	49	0	0	0	1	0	4	49				
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	lincRNA	DEL	T	T	-			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:700532delT	ENST00000428504.1	-	0	1021				RP11-206L10.5_ENST00000417659.1_lincRNA	NR_033908.1																						aaaaaaaaaaTTCCTTTGGGA	0.453																																						ENST00000428504.1																			0																																																			0							g.chr1:700532delT																													1.37:g.700532delT								NR_033908.1						0	1021	-									RNA	DEL	ENST00000428504.1	37																																																																																						0.453	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1			2	4						2	4	---	---	---	---
ATP5F1	515	broad.mit.edu	37	1	111996955	111996955	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:111996955delT	ENST00000369722.3	+	3	806	c.200delT	c.(199-201)cttfs	p.L67fs	ATP5F1_ENST00000483994.1_Intron|ATP5F1_ENST00000369721.4_Intron	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	67					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTCCAGTTTCTTTATCCTAAA	0.423																																						ENST00000369722.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(199-201)ctfs		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1							144.0	142.0	143.0					1																	111996955		2203	4300	6503	SO:0001589	frameshift_variant	515				ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding	g.chr1:111996955delT	X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	840	protein-coding gene	gene with protein product		603270	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"""			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.200delT	1.37:g.111996955delT	ENSP00000358737:p.Leu67fs					ATP5F1_ENST00000369721.4_Intron|ATP5F1_ENST00000483994.1_Intron	p.L67fs	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	806	+		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	67					Q9BQ68|Q9BRU8	Frame_Shift_Del	DEL	ENST00000369722.3	37	c.200delT	CCDS836.1																																																																																				0.423	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032455.1	NM_001688		38	88						38	88	---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155735616	155735617	+	Frame_Shift_Ins	INS	-	-	G			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:155735616_155735617insG	ENST00000368331.1	-	21	3695_3696	c.3647_3648insC	c.(3646-3648)cctfs	p.P1216fs	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Frame_Shift_Ins_p.P1216fs|GON4L_ENST00000361040.5_Frame_Shift_Ins_p.P1216fs|GON4L_ENST00000271883.5_Frame_Shift_Ins_p.P1216fs	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1216					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGATGGTATAGGAAGATTCAC	0.49																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(3646-3648)catfs		gon-4-like (C. elegans)																																				SO:0001589	frameshift_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155735616_155735617insG	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3648dupC	1.37:g.155735618_155735618dupG	ENSP00000357315:p.Pro1216fs					GON4L_ENST00000361040.5_Frame_Shift_Ins_p.H1216fs|GON4L_ENST00000271883.5_Frame_Shift_Ins_p.H1216fs|GON4L_ENST00000368331.1_Frame_Shift_Ins_p.H1216fs|GON4L_ENST00000471341.1_5'UTR	p.H1216fs			Q3T8J9	GON4L_HUMAN			21	3769_3770	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1216					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Frame_Shift_Ins	INS	ENST00000368331.1	37	c.3647_3648insC																																																																																					0.490	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		16	42						16	42	---	---	---	---
RFT1	91869	broad.mit.edu	37	3	53126551	53126551	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr3:53126551delA	ENST00000296292.3	-	12	1353	c.1292delT	c.(1291-1293)ttcfs	p.F431fs	RFT1_ENST00000394738.3_Frame_Shift_Del_p.F392fs|RP11-894J14.5_ENST00000607203.1_Intron	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	431					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		GGCCAAGATGAAGCCCACGCT	0.567																																						ENST00000296292.3																			0				NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12						c.(1291-1293)tcfs		RFT1 homolog (S. cerevisiae)							81.0	68.0	72.0					3																	53126551		2203	4300	6503	SO:0001589	frameshift_variant	91869				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	g.chr3:53126551delA	AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"""congenital disorder of glycosylation 1N"""	611908	"""RFT1, requiring fifty three 1 homolog (S. cerevisiae)"""			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.1292delT	3.37:g.53126551delA	ENSP00000296292:p.Phe431fs					RFT1_ENST00000394738.3_Frame_Shift_Del_p.F392fs|RP11-894J14.5_ENST00000607203.1_Intron	p.F431fs	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)	12	1353	-			431					Q96J03	Frame_Shift_Del	DEL	ENST00000296292.3	37	c.1292delT	CCDS2869.1																																																																																				0.567	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859		5	4						5	4	---	---	---	---
WBP4	11193	broad.mit.edu	37	13	41654831	41654831	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr13:41654831delA	ENST00000379487.3	+	9	1206	c.806delA	c.(805-807)gaafs	p.E269fs	WBP4_ENST00000542082.1_Frame_Shift_Del_p.E248fs	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	269					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		ACACAGAAAGAAAAAAGTATT	0.308																																						ENST00000379487.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12						c.(805-807)gafs		WW domain binding protein 4							66.0	68.0	68.0					13																	41654831		2203	4299	6502	SO:0001589	frameshift_variant	11193				nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding	g.chr13:41654831delA	AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"""formin binding protein 21"""	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.806delA	13.37:g.41654831delA	ENSP00000368801:p.Glu269fs					WBP4_ENST00000542082.1_Frame_Shift_Del_p.E248fs	p.E269fs	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)	9	1206	+		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	269					B7Z4M2|Q32P29	Frame_Shift_Del	DEL	ENST00000379487.3	37	c.806delA	CCDS9375.1																																																																																				0.308	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	NM_007187		21	22						21	22	---	---	---	---
