#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
AGO1	26523	broad.mit.edu	37	1	36379798	36379798	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:36379798C>G	ENST00000373204.4	+	14	1969	c.1756C>G	c.(1756-1758)Caa>Gaa	p.Q586E	AGO1_ENST00000373206.1_Missense_Mutation_p.Q511E	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	586	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q586E(1)									TGCCGTTTTTCAACAGCCAGT	0.517																																						uc001bzl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1756-1758)CAA>GAA		eukaryotic translation initiation factor 2C, 1							103.0	97.0	99.0					1																	36379798		2203	4300	6503	SO:0001583	missense	26523				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding	g.chr1:36379798C>G	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1756C>G	1.37:g.36379798C>G	ENSP00000362300:p.Gln586Glu					EIF2C1_uc001bzk.2_Missense_Mutation_p.Q511E|EIF2C1_uc009vuy.2_RNA	p.Q586E	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN			14	1969	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	586			Piwi.		Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.1756C>G	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866063	0.32977	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.08807	3.05;3.05	5.36	5.36	0.76844	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	N	0.17800	0.525	0.80722	D	1	B	0.21753	0.06	B	0.22152	0.038	T	0.34403	-0.9830	10	0.35671	T	0.21	-23.1933	19.4429	0.94831	0.0:1.0:0.0:0.0	.	586	Q9UL18	AGO1_HUMAN	E	511;586	ENSP00000362302:Q511E;ENSP00000362300:Q586E	ENSP00000362300:Q586E	Q	+	1	0	EIF2C1	36152385	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	7.776000	0.85560	2.669000	0.90835	0.655000	0.94253	CAA		0.517	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3				122	33	0	0	0	0.139131	0	122	33		
SZT2	23334	broad.mit.edu	37	1	43895747	43895747	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:43895747C>T	ENST00000562955.1	+	29	4203	c.4203C>T	c.(4201-4203)ttC>ttT	p.F1401F	SZT2_ENST00000372442.1_Silent_p.F559F	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1458					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)		p.F559F(2)|p.F1401F(1)		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						ACTACTTCTTCTATTGCCCTC	0.537																																						uc001cjk.1		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)		0						c.(1675-1677)TTC>TTT		hypothetical protein LOC23334							169.0	148.0	155.0					1																	43895747		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43895747C>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.4203C>T	1.37:g.43895747C>T							p.F559F	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			15	2139	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1458					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.1677C>T	CCDS30694.2																																																																																				0.537	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		NM_015284		145	52	0	0	0	0.139131	0	145	52		
CTH	1491	broad.mit.edu	37	1	70897873	70897873	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:70897873C>G	ENST00000370938.3	+	8	976	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	CTH_ENST00000411986.2_Missense_Mutation_p.Q246E|CTH_ENST00000346806.2_Missense_Mutation_p.Q234E	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.Q278E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGCAGTTGCCCAGTTCCTGGA	0.403																																						uc001dfd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(832-834)CAG>GAG		cystathionase isoform 1	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						113.0	108.0	109.0					1																	70897873		2203	4300	6503	SO:0001583	missense	1491				cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	g.chr1:70897873C>G	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.832C>G	1.37:g.70897873C>G	ENSP00000359976:p.Gln278Glu					CTH_uc009wbl.1_RNA|CTH_uc001dfe.2_Missense_Mutation_p.Q234E|CTH_uc010oqq.1_Missense_Mutation_p.Q246E	p.Q278E	NM_001902	NP_001893	P32929	CGL_HUMAN			8	976	+			278					O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	c.832C>G	CCDS650.1	.	.	.	.	.	.	.	.	.	.	C	0.600	-0.829312	0.02734	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	T;T;T	0.80393	-1.37;-1.37;-1.37	5.47	3.29	0.37713	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.648923	0.16623	N	0.206382	T	0.34919	0.0914	N	0.02708	-0.52	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.11329	0.006;0.004;0.004	T	0.19516	-1.0303	10	0.07325	T	0.83	-3.7403	14.118	0.65167	0.3865:0.6135:0.0:0.0	.	246;234;278	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	E	246;278;234	ENSP00000413407:Q246E;ENSP00000359976:Q278E;ENSP00000311554:Q234E	ENSP00000311554:Q234E	Q	+	1	0	CTH	70670461	0.032000	0.19561	0.213000	0.23690	0.006000	0.05464	1.010000	0.29898	1.428000	0.47296	0.650000	0.86243	CAG		0.403	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1		NM_001902		67	23	0	0	0	0.139131	0	67	23		
FPGT	8790	broad.mit.edu	37	1	74671227	74671227	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:74671227C>A	ENST00000609362.1	+	4	1533	c.1496C>A	c.(1495-1497)tCa>tAa	p.S499*	FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370898.3_Nonsense_Mutation_p.S512*|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000534056.1_Nonsense_Mutation_p.S245*|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370894.5_3'UTR	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	499					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.S499*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TGTTTCCTGTCATGCTTAGAT	0.378																																						uc001dgb.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(1)	1						c.(1495-1497)TCA>TAA		fucose-1-phosphate guanyltransferase							115.0	107.0	110.0					1																	74671227		2203	4300	6503	SO:0001587	stop_gained	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74671227C>A	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1496C>A	1.37:g.74671227C>A	ENSP00000476680:p.Ser499*					TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Nonsense_Mutation_p.S124*|FPGT_uc010oqu.1_Nonsense_Mutation_p.S245*|FPGT_uc010oqv.1_Intron	p.S499*	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	1533	+			499					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Nonsense_Mutation	SNP	ENST00000609362.1	37	c.1496C>A	CCDS663.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.653869	0.67472	.	.	ENSG00000254685	ENST00000370898;ENST00000534056	.	.	.	5.1	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.095	0.53750	0.3737:0.6262:0.0:0.0	.	.	.	.	X	499;245	.	ENSP00000359935:S499X	S	+	2	0	TNNI3K	74443815	0.283000	0.24277	0.998000	0.56505	0.948000	0.59901	4.240000	0.58701	2.351000	0.79841	0.563000	0.77884	TCA		0.378	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					49	57	1	0	5.2432e-18	0.139131	5.66114e-18	49	57		
SLC35A3	23443	broad.mit.edu	37	1	100459152	100459152	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:100459152C>G	ENST00000370155.3	+	2	434	c.42C>G	c.(40-42)gtC>gtG	p.V14V	SLC35A3_ENST00000427993.2_Silent_p.V14V|SLC35A3_ENST00000465289.1_Silent_p.V14V|SLC35A3_ENST00000370153.1_Silent_p.V56V	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	14					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)	p.V14V(1)		biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		GAATTTTGGTCTTTCAGACTA	0.358																																					Ovarian(7;298 356 944 2149 6911)	uc001dsp.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(40-42)GTC>GTG		solute carrier family 35 member 3A							110.0	111.0	111.0					1																	100459152		2202	4300	6502	SO:0001819	synonymous_variant	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100459152C>G	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.42C>G	1.37:g.100459152C>G						SLC35A3_uc001dsq.1_Silent_p.V14V|SLC35A3_uc009wdy.1_Silent_p.V14V|SLC35A3_uc001dsr.1_Silent_p.V56V|SLC35A3_uc001dss.1_5'Flank	p.V14V	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	2	239	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	14			Helical; (Potential).		A8K3F8|D3DT54|Q68CR2|Q9BSB7	Silent	SNP	ENST00000370155.3	37	c.42C>G	CCDS762.1																																																																																				0.358	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1		NM_012243		4	123	0	0	0	0.009096	0	4	123		
MAN1A2	10905	broad.mit.edu	37	1	117944812	117944812	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:117944812G>C	ENST00000356554.3	+	2	1042	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	103					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.E103Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TCACAGGGAAGAGGAAGAACG	0.363																																					Ovarian(33;199 881 8228 13687 31538)	uc001ehd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(307-309)GAG>CAG		mannosidase, alpha, class 1A, member 2							57.0	61.0	60.0					1																	117944812		2197	4300	6497	SO:0001583	missense	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:117944812G>C	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.307G>C	1.37:g.117944812G>C	ENSP00000348959:p.Glu103Gln					MAN1A2_uc009whg.1_Intron	p.E103Q	NM_006699	NP_006690	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	2	1028	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	103			Lumenal (Potential).		Q9H510	Missense_Mutation	SNP	ENST00000356554.3	37	c.307G>C	CCDS895.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690284	0.68271	.	.	ENSG00000198162	ENST00000356554	D	0.83075	-1.68	5.66	5.66	0.87406	.	0.052085	0.85682	D	0.000000	T	0.72153	0.3425	L	0.59436	1.845	0.58432	D	0.999999	P	0.39737	0.685	B	0.33620	0.167	T	0.74234	-0.3731	10	0.33141	T	0.24	-26.0736	17.2254	0.86969	0.0:0.0:1.0:0.0	.	103	O60476	MA1A2_HUMAN	Q	103	ENSP00000348959:E103Q	ENSP00000348959:E103Q	E	+	1	0	MAN1A2	117746335	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.311000	0.96282	2.665000	0.90641	0.585000	0.79938	GAG		0.363	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1		NM_006699		32	26	0	0	0	0.069456	0	32	26		
HRNR	388697	broad.mit.edu	37	1	152188199	152188199	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:152188199G>C	ENST00000368801.2	-	3	5981	c.5906C>G	c.(5905-5907)tCt>tGt	p.S1969C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1969					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S1969C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAGCCAGACCCATATGG	0.617																																						uc001ezt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(5905-5907)TCT>TGT		hornerin							334.0	563.0	486.0					1																	152188199		2182	4292	6474	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188199G>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5906C>G	1.37:g.152188199G>C	ENSP00000357791:p.Ser1969Cys						p.S1969C	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5982	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1969			22.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.5906C>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	4.299	0.054710	0.08291	.	.	ENSG00000197915	ENST00000368801	T	0.03004	4.08	3.11	2.16	0.27623	.	.	.	.	.	T	0.04815	0.0130	L	0.57536	1.79	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.33650	-0.9860	9	0.52906	T	0.07	.	4.6117	0.12406	0.1298:0.2304:0.6398:0.0	.	1969	Q86YZ3	HORN_HUMAN	C	1969	ENSP00000357791:S1969C	ENSP00000357791:S1969C	S	-	2	0	HRNR	150454823	0.050000	0.20438	0.001000	0.08648	0.004000	0.04260	1.372000	0.34261	0.603000	0.29913	0.556000	0.70494	TCT		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		39	859	0	0	0	0.074837	0	39	859		
OR6Y1	391112	broad.mit.edu	37	1	158516978	158516978	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:158516978G>A	ENST00000302617.3	-	1	917	c.918C>T	c.(916-918)ctC>ctT	p.L306L		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L306L(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGGTCTTTCTGAGGGCTGCCT	0.438																																						uc010pil.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(916-918)CTC>CTT		olfactory receptor, family 6, subfamily Y,							126.0	117.0	120.0					1																	158516978		2203	4300	6503	SO:0001819	synonymous_variant	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158516978G>A	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.918C>T	1.37:g.158516978G>A							p.L306L	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	918	-	all_hematologic(112;0.0378)		306			Cytoplasmic (Potential).		Q6IFS0	Silent	SNP	ENST00000302617.3	37	c.918C>T	CCDS30899.1																																																																																				0.438	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1		NM_001005189		28	83	0	0	0	0.099896	0	28	83		
DARS2	55157	broad.mit.edu	37	1	173795914	173795914	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:173795914C>A	ENST00000361951.4	+	2	944	c.217C>A	c.(217-219)Cag>Aag	p.Q73K	DARS2_ENST00000239457.5_5'UTR|CENPL_ENST00000367710.3_5'Flank|CENPL_ENST00000345664.6_5'Flank|CENPL_ENST00000356198.2_5'Flank|CENPL_ENST00000495275.1_5'Flank	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	73					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.Q73K(1)		breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TGGATGGATTCAGTACCGAAG	0.423																																						uc001gjh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(217-219)CAG>AAG		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						129.0	123.0	125.0					1																	173795914		2203	4300	6503	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173795914C>A	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.217C>A	1.37:g.173795914C>A	ENSP00000355086:p.Gln73Lys					CENPL_uc009wwg.2_5'Flank|CENPL_uc001gje.3_5'Flank|CENPL_uc001gjg.3_5'Flank|CENPL_uc001gjf.3_5'Flank	p.Q73K	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN			2	627	+			73						Missense_Mutation	SNP	ENST00000361951.4	37	c.217C>A	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	C	33	5.202356	0.94997	.	.	ENSG00000117593	ENST00000361951	T	0.20738	2.05	5.57	5.57	0.84162	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.058275	0.64402	D	0.000001	T	0.37265	0.0997	L	0.58669	1.825	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.09465	-1.0673	10	0.66056	D	0.02	-17.8444	18.322	0.90242	0.0:1.0:0.0:0.0	.	73	Q6PI48	SYDM_HUMAN	K	73	ENSP00000355086:Q73K	ENSP00000355086:Q73K	Q	+	1	0	DARS2	172062537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.648000	0.83479	2.610000	0.88304	0.591000	0.81541	CAG		0.423	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1		NM_018122		53	43	1	0	6.27289e-28	0.139131	6.87251e-28	53	43		
BRINP2	57795	broad.mit.edu	37	1	177245564	177245564	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:177245564G>A	ENST00000361539.4	+	6	1318	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	336					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.E336K(1)									GCAGTTTGAAGAGTCAGGTGA	0.542																																						uc001glf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1006-1008)GAG>AAG		family with sequence similarity 5, member B							51.0	46.0	48.0					1																	177245564		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177245564G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1006G>A	1.37:g.177245564G>A	ENSP00000354481:p.Glu336Lys					FAM5B_uc010pna.1_Missense_Mutation_p.E86K|FAM5B_uc001glg.2_Missense_Mutation_p.E231K	p.E336K	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			6	1318	+			336					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1006G>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002319	0.74932	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.15834	2.39	6.07	6.07	0.98685	.	0.098510	0.64402	D	0.000002	T	0.21718	0.0523	L	0.49126	1.545	0.80722	D	1	B;B;B	0.34329	0.449;0.126;0.18	B;B;B	0.32864	0.154;0.053;0.025	T	0.00964	-1.1498	10	0.59425	D	0.04	-17.7642	20.239	0.98366	0.0:0.0:1.0:0.0	.	86;231;336	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	K	86;336	ENSP00000354481:E336K	ENSP00000354481:E336K	E	+	1	0	FAM5B	175512187	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.532000	0.73825	2.884000	0.98904	0.655000	0.94253	GAG		0.542	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1		NM_021165		36	37	0	0	0	0.074837	0	36	37		
CRB1	23418	broad.mit.edu	37	1	197390534	197390534	+	Nonsense_Mutation	SNP	C	C	T	rs114342808		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:197390534C>T	ENST00000367400.3	+	6	1711	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Nonsense_Mutation_p.R7*|CRB1_ENST00000543483.1_Nonsense_Mutation_p.R225*|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Nonsense_Mutation_p.R526*|CRB1_ENST00000367399.2_Nonsense_Mutation_p.R414*|CRB1_ENST00000535699.1_Nonsense_Mutation_p.R457*	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	526	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R526*(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTACTTTTCCGAAGCAACAG	0.453																																						uc001gtz.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(1)|endometrium(1)	ovary(5)|skin(3)|large_intestine(1)	9	GRCh37	CM082582	CRB1	M	rs114342808	c.(1576-1578)CGA>TGA		crumbs homolog 1 precursor							117.0	114.0	115.0					1																	197390534		2203	4300	6503	SO:0001587	stop_gained	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390534C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1576C>T	1.37:g.197390534C>T	ENSP00000356370:p.Arg526*					CRB1_uc010poz.1_Nonsense_Mutation_p.R457*|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Nonsense_Mutation_p.R414*|CRB1_uc010ppb.1_Nonsense_Mutation_p.R526*|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Nonsense_Mutation_p.R7*|CRB1_uc001gub.1_Nonsense_Mutation_p.R175*	p.R526*	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1711	+			526			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Nonsense_Mutation	SNP	ENST00000367400.3	37	c.1576C>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516970	0.64634	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000544212;ENST00000367401	.	.	.	5.82	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	8.6702	0.34145	0.2714:0.6602:0.0:0.0684	.	.	.	.	X	457;526;526;414;225;7;175	.	ENSP00000356369:R414X	R	+	1	2	CRB1	195657157	0.004000	0.15560	0.517000	0.27799	0.054000	0.15201	0.510000	0.22723	0.790000	0.33803	-0.188000	0.12872	CGA		0.453	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2		NM_201253		55	52	0	0	0	0.139131	0	55	52		
KLHDC8A	55220	broad.mit.edu	37	1	205306715	205306715	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:205306715G>C	ENST00000367156.3	-	9	1681	c.865C>G	c.(865-867)Caa>Gaa	p.Q289E	KLHDC8A_ENST00000537168.1_Missense_Mutation_p.Q176E|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.Q289E|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.Q289E|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.Q155E	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	289								p.Q289E(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACAGTGGGTTGATTCCCTGAA	0.587																																						uc001hcf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(865-867)CAA>GAA		kelch domain containing 8A							102.0	116.0	111.0					1																	205306715		2203	4300	6503	SO:0001583	missense	55220							g.chr1:205306715G>C		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.865C>G	1.37:g.205306715G>C	ENSP00000356124:p.Gln289Glu					KLHDC8A_uc010prg.1_Missense_Mutation_p.Q176E|KLHDC8A_uc001hcg.1_Missense_Mutation_p.Q289E	p.Q289E	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		6	1433	-	Breast(84;0.23)		289			Kelch 7.		B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.865C>G	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672126	0.47781	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.34	5.34	0.76211	Kelch-type beta propeller (1);	0.053612	0.85682	D	0.000000	T	0.59932	0.2230	N	0.20483	0.58	0.47905	D	0.999541	B;B	0.28178	0.202;0.098	B;B	0.27887	0.084;0.08	T	0.59101	-0.7517	10	0.48119	T	0.1	-13.2844	18.6459	0.91410	0.0:0.0:1.0:0.0	.	176;289	F5H5F1;Q8IYD2	.;KLD8A_HUMAN	E	289;289;289;176	ENSP00000356123:Q289E;ENSP00000356124:Q289E;ENSP00000442229:Q289E;ENSP00000443447:Q176E	ENSP00000356123:Q289E	Q	-	1	0	KLHDC8A	203573338	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	6.823000	0.75282	2.500000	0.84329	0.591000	0.81541	CAA		0.587	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1		NM_018203		30	94	0	0	0	0.125774	0	30	94		
SFMBT2	57713	broad.mit.edu	37	10	7205753	7205753	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr10:7205753G>C	ENST00000361972.4	-	21	2754	c.2664C>G	c.(2662-2664)ttC>ttG	p.F888L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.F888L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	888					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.F888L(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACTGGGCGTAGAAAGCCACTT	0.547																																						uc009xio.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(2662-2664)TTC>TTG		Scm-like with four mbt domains 2							104.0	87.0	93.0					10																	7205753		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7205753G>C	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2664C>G	10.37:g.7205753G>C	ENSP00000355109:p.Phe888Leu					SFMBT2_uc001ijn.1_Missense_Mutation_p.F888L|SFMBT2_uc010qay.1_Missense_Mutation_p.F723L	p.F888L	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			21	2755	-			888					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2664C>G	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996722	0.93167	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.24151	1.87;1.87	5.61	5.61	0.85477	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	T	0.06409	-1.0828	10	0.14656	T	0.56	.	19.6373	0.95740	0.0:0.0:1.0:0.0	.	888	Q5VUG0	SMBT2_HUMAN	L	888	ENSP00000355109:F888L;ENSP00000380353:F888L	ENSP00000355109:F888L	F	-	3	2	SFMBT2	7245759	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.237000	0.51344	2.636000	0.89361	0.655000	0.94253	TTC		0.547	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1		NM_001029880		23	70	0	0	0	0.076483	0	23	70		
GAD2	2572	broad.mit.edu	37	10	26581833	26581833	+	Silent	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr10:26581833T>C	ENST00000376261.3	+	15	2000	c.1497T>C	c.(1495-1497)ccT>ccC	p.P499P	GAD2_ENST00000259271.3_Silent_p.P499P	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	499					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.P499P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTTGTAGCCTCAGCACACAA	0.448																																						uc001isp.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(1495-1497)CCT>CCC		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						224.0	230.0	228.0					10																	26581833		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26581833T>C	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1497T>C	10.37:g.26581833T>C						GAD2_uc001isq.2_Silent_p.P499P	p.P499P	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			15	2000	+			499					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1497T>C	CCDS7149.1																																																																																				0.448	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1		NM_000818		116	281	0	0	0	0.139131	0	116	281		
ZFAND4	93550	broad.mit.edu	37	10	46121537	46121537	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr10:46121537G>T	ENST00000344646.5	-	7	1949	c.1734C>A	c.(1732-1734)agC>agA	p.S578R	ZFAND4_ENST00000374366.3_Missense_Mutation_p.S504R|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	578							zinc ion binding (GO:0008270)	p.S578R(1)									ATCTATTTCTGCTTGTGCTCC	0.468																																						uc001jcp.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1732-1734)AGC>AGA		AN1, ubiquitin-like, homolog							96.0	96.0	96.0					10																	46121537		2203	4300	6503	SO:0001583	missense	93550						zinc ion binding	g.chr10:46121537G>T	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1734C>A	10.37:g.46121537G>T	ENSP00000339484:p.Ser578Arg					ANUBL1_uc001jcl.3_Missense_Mutation_p.S98R|ANUBL1_uc001jcm.3_Missense_Mutation_p.S578R|ANUBL1_uc009xmu.2_Missense_Mutation_p.S504R|ANUBL1_uc001jcn.3_Missense_Mutation_p.S504R|ANUBL1_uc001jco.3_Intron	p.S578R	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN			7	1976	-			578					A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	c.1734C>A	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381122	0.42207	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.26518	1.73;1.73	5.73	3.89	0.44902	.	0.260438	0.36854	N	0.002368	T	0.44307	0.1287	M	0.72894	2.215	0.41665	D	0.9892	D	0.76494	0.999	D	0.66196	0.942	T	0.38394	-0.9663	10	0.87932	D	0	-19.5746	8.0693	0.30680	0.2458:0.0:0.7542:0.0	.	578	Q86XD8	ANUB1_HUMAN	R	578;504;460	ENSP00000339484:S578R;ENSP00000363486:S504R	ENSP00000339484:S578R	S	-	3	2	ANUBL1	45441543	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	2.617000	0.46385	0.783000	0.33636	-0.224000	0.12420	AGC		0.468	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1		NM_174890		4	146	1	0	0.00909568	0.009096	0.00937894	4	146		
RBP3	5949	broad.mit.edu	37	10	48382225	48382225	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr10:48382225G>C	ENST00000224600.4	-	4	3537	c.3424C>G	c.(3424-3426)Ctg>Gtg	p.L1142V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1142	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.L1142V(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTGCTGGTCAGAATGACCATG	0.592																																						uc001jez.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|central_nervous_system(1)	2						c.(3424-3426)CTG>GTG		retinol-binding protein 3 precursor	Vitamin A(DB00162)						33.0	36.0	35.0					10																	48382225		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48382225G>C	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3424C>G	10.37:g.48382225G>C	ENSP00000224600:p.Leu1142Val						p.L1142V	NM_002900	NP_002891	P10745	RET3_HUMAN			4	3538	-			1142			4 X approximate tandem repeats.|4.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.3424C>G	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201075	0.58234	.	.	ENSG00000107618	ENST00000224600	D	0.81579	-1.51	5.66	4.74	0.60224	Interphotoreceptor retinol-binding (2);	0.000000	0.85682	D	0.000000	D	0.91036	0.7180	M	0.93420	3.415	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	D	0.91776	0.5431	10	0.87932	D	0	-18.0068	9.2383	0.37479	0.0755:0.1472:0.7773:0.0	.	1142	P10745	RET3_HUMAN	V	1142	ENSP00000224600:L1142V	ENSP00000224600:L1142V	L	-	1	2	RBP3	48002231	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	5.304000	0.65744	1.385000	0.46445	0.650000	0.86243	CTG		0.592	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1		NM_002900		19	32	0	0	0	0.043863	0	19	32		
PLCE1	51196	broad.mit.edu	37	10	96064271	96064271	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr10:96064271G>A	ENST00000371380.3	+	24	5726	c.5491G>A	c.(5491-5493)Gag>Aag	p.E1831K	PLCE1_ENST00000371375.1_Missense_Mutation_p.E1523K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E1523K|PLCE1_ENST00000260766.3_Missense_Mutation_p.E1831K			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1831	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.E1523K(1)|p.E1831K(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGCAATGTTTGAGGCAAATGG	0.378																																						uc001kjk.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|skin(1)	3						c.(5491-5493)GAG>AAG		phospholipase C, epsilon 1 isoform 1							246.0	220.0	228.0					10																	96064271		1893	4121	6014	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96064271G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5491G>A	10.37:g.96064271G>A	ENSP00000360431:p.Glu1831Lys					PLCE1_uc010qnx.1_Missense_Mutation_p.E1815K|PLCE1_uc001kjm.2_Missense_Mutation_p.E1523K|PLCE1_uc001kjp.2_Missense_Mutation_p.E189K	p.E1831K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			25	6125	+		Colorectal(252;0.0458)	1831			PI-PLC Y-box.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.5491G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	35	5.587520	0.96590	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.8	5.8	0.92144	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	L	0.35593	1.075	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.76697	-0.2864	10	0.59425	D	0.04	.	19.6641	0.95886	0.0:0.0:1.0:0.0	.	1815;1523;1831	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	K	1831;1831;1523;1523	ENSP00000260766:E1831K;ENSP00000360431:E1831K;ENSP00000360438:E1523K;ENSP00000360426:E1523K	ENSP00000260766:E1831K	E	+	1	0	PLCE1	96054261	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.789000	0.99068	2.758000	0.94735	0.561000	0.74099	GAG		0.378	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3		NM_016341		72	136	0	0	0	0.139131	0	72	136		
PKP3	11187	broad.mit.edu	37	11	397293	397293	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:397293C>T	ENST00000331563.2	+	3	868	c.792C>T	c.(790-792)ggC>ggT	p.G264G		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	264					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)	p.G264G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGGGGTAGGCGGGGCAGTGC	0.736																																						uc001lpc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(790-792)GGC>GGT		plakophilin 3							4.0	5.0	5.0					11																	397293		1742	3633	5375	SO:0001819	synonymous_variant	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:397293C>T	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.792C>T	11.37:g.397293C>T							p.G264G	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	868	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	264					F8J390|Q53EX8	Silent	SNP	ENST00000331563.2	37	c.792C>T	CCDS7695.1																																																																																				0.736	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1		NM_007183		4	2	0	0	0	0.009096	0	4	2		
PGAP2	27315	broad.mit.edu	37	11	3845209	3845209	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:3845209C>T	ENST00000463452.2	+	3	345	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	PGAP2_ENST00000493547.2_Missense_Mutation_p.R88C|PGAP2_ENST00000396991.2_Missense_Mutation_p.R149C|PGAP2_ENST00000396993.4_Missense_Mutation_p.S41L|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000300730.6_Missense_Mutation_p.R145C|PGAP2_ENST00000278243.4_Missense_Mutation_p.R149C|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000396986.2_Missense_Mutation_p.R145C|PGAP2_ENST00000465307.2_Missense_Mutation_p.S91L	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	88					GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.R149C(1)|p.R145C(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CTCGGCGCCTCGCTTCTTGGT	0.642																																						uc001lys.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(445-447)CGC>TGC		FGF receptor activating protein 1 isoform 1							104.0	96.0	99.0					11																	3845209		2201	4298	6499	SO:0001583	missense	27315				GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity	g.chr11:3845209C>T	AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.262C>T	11.37:g.3845209C>T	ENSP00000435223:p.Arg88Cys					PGAP2_uc001lyl.2_Missense_Mutation_p.R106C|PGAP2_uc010qxw.1_Missense_Mutation_p.R206C|PGAP2_uc010qxx.1_Missense_Mutation_p.S129L|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Missense_Mutation_p.R145C|PGAP2_uc010qxz.1_Missense_Mutation_p.R145C|PGAP2_uc001lyn.3_Missense_Mutation_p.S41L|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Missense_Mutation_p.R88C|PGAP2_uc010qyb.1_Missense_Mutation_p.S91L|PGAP2_uc001lyt.2_5'UTR	p.R149C	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN			4	571	+			149					E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	ENST00000463452.2	37	c.445C>T	CCDS58112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.16|15.16	2.751836|2.751836	0.49362|0.49362	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000396986;ENST00000300730;ENST00000396991;ENST00000464261;ENST00000493547;ENST00000278243;ENST00000463452;ENST00000469307|ENST00000396993;ENST00000532523;ENST00000465307	T;T;T;T;T;T;T;T|.	0.48522|.	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65386|0.65386	0.2686|0.2686	M|M	0.89840|0.89840	3.065|3.065	0.80722|0.80722	D|D	1|1	D;D;D;D;D|P;B	0.89917|0.42039	1.0;1.0;1.0;1.0;1.0|0.769;0.226	D;D;D;D;D|B;B	0.91635|0.28305	0.994;0.997;0.995;0.999;0.997|0.088;0.028	T|T	0.75684|0.75684	-0.3232|-0.3232	10|8	0.87932|0.87932	D|D	0|0	-10.3427|-10.3427	15.6769|15.6769	0.77336|0.77336	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	145;88;149;88;88|91;41	A8MYS5;Q9UHJ9-3;Q9UHJ9;E9PJG5;Q9UHJ9-2|B7Z2X5;A8MZF5	.;.;PGAP2_HUMAN;.;.|.;.	C|L	145;145;149;118;88;149;88;88|41;106;91	ENSP00000380183:R145C;ENSP00000300730:R145C;ENSP00000380188:R149C;ENSP00000434088:R118C;ENSP00000431851:R88C;ENSP00000278243:R149C;ENSP00000435223:R88C;ENSP00000434507:R88C|.	ENSP00000278243:R149C|ENSP00000380190:S41L	R|S	+|+	1|2	0|0	PGAP2|PGAP2	3801785|3801785	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.056000|4.056000	0.57448|0.57448	2.766000|2.766000	0.95052|0.95052	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.642	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383260.1				22	63	0	0	0	0.069288	0	22	63		
NLRP14	338323	broad.mit.edu	37	11	7079046	7079046	+	Missense_Mutation	SNP	A	A	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:7079046A>C	ENST00000299481.4	+	7	2776	c.2430A>C	c.(2428-2430)ttA>ttC	p.L810F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	810					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.L810F(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGAGGCCTTAAGACATCCAA	0.393																																						uc001mfb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(2428-2430)TTA>TTC		NLR family, pyrin domain containing 14							236.0	210.0	219.0					11																	7079046		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7079046A>C	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2430A>C	11.37:g.7079046A>C	ENSP00000299481:p.Leu810Phe						p.L810F	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	7	2753	+			810					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2430A>C	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.550474	0.65311	.	.	ENSG00000158077	ENST00000299481	T	0.64438	-0.1	4.89	2.65	0.31530	.	0.000000	0.34628	N	0.003801	T	0.78591	0.4307	M	0.91818	3.245	0.36187	D	0.849796	D	0.76494	0.999	D	0.73708	0.981	T	0.79070	-0.1954	10	0.72032	D	0.01	.	5.0442	0.14475	0.5851:0.0:0.4149:0.0	.	810	Q86W24	NAL14_HUMAN	F	810	ENSP00000299481:L810F	ENSP00000299481:L810F	L	+	3	2	NLRP14	7035622	0.968000	0.33430	0.504000	0.27639	0.959000	0.62525	0.115000	0.15540	0.240000	0.21263	0.477000	0.44152	TTA		0.393	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1		NM_176822		25	45	0	0	0	0.099896	0	25	45		
WEE1	7465	broad.mit.edu	37	11	9608064	9608064	+	Silent	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:9608064T>C	ENST00000450114.2	+	9	1792	c.1539T>C	c.(1537-1539)gcT>gcC	p.A513A	WEE1_ENST00000299613.6_Silent_p.A299A	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	513	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.A513A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		CTGCTGGTGCTGAACCTCTTC	0.398																																						uc001mhs.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5						c.(1537-1539)GCT>GCC		WEE1 tyrosine kinase isoform 1							101.0	97.0	98.0					11																	9608064		2201	4294	6495	SO:0001819	synonymous_variant	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9608064T>C	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1539T>C	11.37:g.9608064T>C						WEE1_uc001mht.2_Silent_p.A299A	p.A513A	NM_003390	NP_003381	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	9	1792	+			513			Protein kinase.		B3KVE1|D3DQV0	Silent	SNP	ENST00000450114.2	37	c.1539T>C	CCDS7800.1																																																																																				0.398	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1		NM_003390		3	94	0	0	0	0.009096	0	3	94		
QSER1	79832	broad.mit.edu	37	11	32956871	32956871	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:32956871C>G	ENST00000399302.2	+	4	4015	c.3680C>G	c.(3679-3681)tCt>tGt	p.S1227C	QSER1_ENST00000527788.1_Missense_Mutation_p.S988C	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1227								p.S1227C(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GAACATTTATCTTCATTTTCT	0.363																																						uc001mty.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(3679-3681)TCT>TGT		glutamine and serine rich 1							143.0	144.0	144.0					11																	32956871		1827	4079	5906	SO:0001583	missense	79832							g.chr11:32956871C>G	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3680C>G	11.37:g.32956871C>G	ENSP00000382241:p.Ser1227Cys					QSER1_uc001mtz.1_Missense_Mutation_p.S988C|QSER1_uc001mua.2_Missense_Mutation_p.S732C	p.S1227C	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			4	3947	+	Breast(20;0.158)		1227					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.3680C>G	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.53|14.53	2.561875|2.561875	0.45590|0.45590	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000524678|ENST00000399302;ENST00000078652;ENST00000527788	.|T;T	.|0.24723	.|2.17;1.84	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.082750	.|0.51477	.|D	.|0.000095	T|T	0.45498|0.45498	0.1345|0.1345	L|L	0.47716|0.47716	1.5|1.5	0.41933|0.41933	D|D	0.990575|0.990575	.|D;D;D	.|0.76494	.|0.996;0.999;0.993	.|P;D;P	.|0.65573	.|0.794;0.936;0.628	T|T	0.41928|0.41928	-0.9481|-0.9481	5|10	.|0.87932	.|D	.|0	.|.	18.9689|18.9689	0.92707|0.92707	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|988;988;1227	.|C9JJ88;Q2KHR3-2;Q2KHR3	.|.;.;QSER1_HUMAN	V|C	248|1227;988;988	.|ENSP00000382241:S1227C;ENSP00000432766:S988C	.|ENSP00000078652:S988C	L|S	+|+	1|2	0|0	QSER1|QSER1	32913447|32913447	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.362000|0.362000	0.29581|0.29581	7.487000|7.487000	0.81328|0.81328	2.494000|2.494000	0.84150|0.84150	0.467000|0.467000	0.42956|0.42956	CTT|TCT		0.363	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1		NM_024774		77	132	0	0	0	0.139131	0	77	132		
OR5M8	219484	broad.mit.edu	37	11	56258184	56258184	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:56258184G>A	ENST00000327216.2	-	1	687	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F221F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AAATAGCAGGGAAAATGTAAA	0.408																																						uc001nix.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(661-663)TTC>TTT		olfactory receptor, family 5, subfamily M,							45.0	48.0	47.0					11																	56258184		2201	4296	6497	SO:0001819	synonymous_variant	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258184G>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.663C>T	11.37:g.56258184G>A							p.F221F	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	663	-	Esophageal squamous(21;0.00352)		221			Cytoplasmic (Potential).		B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	ENST00000327216.2	37	c.663C>T	CCDS31533.1																																																																																				0.408	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1		NM_001005282		18	46	0	0	0	0.0333	0	18	46		
OR5M10	390167	broad.mit.edu	37	11	56344512	56344512	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:56344512C>A	ENST00000526812.2	-	1	751	c.686G>T	c.(685-687)cGt>cTt	p.R229L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R229L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TTCAGCAGAACGGATCCTGAA	0.443																																						uc001niz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(685-687)CGT>CTT		olfactory receptor, family 5, subfamily M,							48.0	46.0	47.0					11																	56344512		1814	4056	5870	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344512C>A	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.686G>T	11.37:g.56344512C>A	ENSP00000436004:p.Arg229Leu						p.R229L	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	686	-			229			Cytoplasmic (Potential).		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.686G>T	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	C	9.003	0.980525	0.18812	.	.	ENSG00000254834	ENST00000526812	T	0.39787	1.06	4.2	-2.08	0.07254	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.47507	0.1449	M	0.84773	2.715	0.09310	N	1	B	0.28439	0.212	B	0.40101	0.319	T	0.57843	-0.7741	9	0.72032	D	0.01	.	2.3015	0.04163	0.1274:0.2753:0.1248:0.4725	.	229	Q6IEU7	OR5MA_HUMAN	L	229	ENSP00000436004:R229L	ENSP00000436004:R229L	R	-	2	0	OR5M10	56101088	0.000000	0.05858	0.001000	0.08648	0.233000	0.25261	-2.492000	0.00973	-0.243000	0.09653	0.632000	0.83419	CGT		0.443	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1		NM_001004741		61	49	1	0	3.07281e-33	0.139131	3.41679e-33	61	49		
PC	5091	broad.mit.edu	37	11	66619974	66619974	+	Silent	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:66619974G>C	ENST00000393958.2	-	14	1854	c.1761C>G	c.(1759-1761)ctC>ctG	p.L587L	PC_ENST00000529047.1_5'Flank|PC_ENST00000393955.2_Silent_p.L587L|PC_ENST00000528224.1_5'Flank|PC_ENST00000393960.1_Silent_p.L587L	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	587	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.L587L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGATCTTTTTGAGATCGTGGG	0.612																																						uc001ojn.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|lung(1)|kidney(1)	4						c.(1759-1761)CTC>CTG		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						71.0	69.0	70.0					11																	66619974		2200	4295	6495	SO:0001819	synonymous_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66619974G>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1761C>G	11.37:g.66619974G>C						PC_uc001ojo.1_Silent_p.L587L|PC_uc001ojp.1_Silent_p.L587L|PC_uc001ojm.1_5'Flank	p.L587L	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	13	1810	-		Melanoma(852;0.0525)	587			Carboxyltransferase.		B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	c.1761C>G	CCDS8152.1																																																																																				0.612	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1		NM_001040716		43	109	0	0	0	0.139131	0	43	109		
SSH3	54961	broad.mit.edu	37	11	67075644	67075644	+	Splice_Site	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:67075644G>T	ENST00000308127.4	+	9	1063		c.e9-1		SSH3_ENST00000376757.5_Splice_Site|SSH3_ENST00000532181.1_Splice_Site|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3						protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.?(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCTGCCTGCAGATCCGCCAGG	0.647																																						uc001okj.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(1)	1						c.e9-1		slingshot homolog 3							38.0	42.0	41.0					11																	67075644		2199	4293	6492	SO:0001630	splice_region_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67075644G>T	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.886-1G>T	11.37:g.67075644G>T						SSH3_uc001okk.2_Splice_Site|SSH3_uc001okl.2_Splice_Site_p.I150_splice	p.I296_splice	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		9	1064	+								Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Splice_Site	SNP	ENST00000308127.4	37	c.886_splice	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582567	0.65992	.	.	ENSG00000172830	ENST00000308127;ENST00000376757;ENST00000527821	.	.	.	5.51	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5842	0.61919	0.0776:0.0:0.9224:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SSH3	66832220	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.681000	0.84073	2.595000	0.87683	0.561000	0.74099	.		0.647	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1		NM_018276	Intron	37	103	1	0	1.15505e-17	0.11126	1.24261e-17	37	103		
RNF121	55298	broad.mit.edu	37	11	71698134	71698134	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:71698134C>T	ENST00000361756.3	+	5	844	c.483C>T	c.(481-483)ctC>ctT	p.L161L	RNF121_ENST00000530137.1_Silent_p.L129L|RNF121_ENST00000393713.3_Silent_p.L129L|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000545854.1_Silent_p.L80L|RNF121_ENST00000533380.1_Intron	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	161						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.L161L(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TGTTTACCCTCTTTGGTCTTA	0.423																																						uc001ora.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(481-483)CTC>CTT		ring finger protein 121							222.0	179.0	194.0					11																	71698134		2200	4293	6493	SO:0001819	synonymous_variant	55298					integral to membrane	zinc ion binding	g.chr11:71698134C>T	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"""RING-type (C3HC4) zinc fingers"""	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.483C>T	11.37:g.71698134C>T						RNF121_uc001ord.2_Silent_p.L80L|RNF121_uc001orb.2_Silent_p.L129L|RNF121_uc009yst.2_Silent_p.L129L	p.L161L	NM_018320	NP_060790	Q9H920	RN121_HUMAN			5	823	+			161			Helical; (Potential).		B3KSW8|Q6IA57|Q6P449|Q96DB4	Silent	SNP	ENST00000361756.3	37	c.483C>T	CCDS8203.1																																																																																				0.423	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1		NM_018320		56	94	0	0	0	0.139131	0	56	94		
C11orf30	56946	broad.mit.edu	37	11	76257009	76257009	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:76257009G>C	ENST00000529032.1	+	19	3442	c.3442G>C	c.(3442-3444)Gac>Cac	p.D1148H	C11orf30_ENST00000525919.1_Missense_Mutation_p.D1149H|C11orf30_ENST00000533248.1_Missense_Mutation_p.D1057H|C11orf30_ENST00000524490.1_Missense_Mutation_p.D1050H|C11orf30_ENST00000525038.1_Missense_Mutation_p.D1149H|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000334736.3_Missense_Mutation_p.D1148H|C11orf30_ENST00000524767.1_Missense_Mutation_p.D1163H			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1148					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.D1148H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AGCAGTGTCTGACATTTTGAA	0.438																																						uc001oxl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|skin(1)	6						c.(3442-3444)GAC>CAC		EMSY protein							99.0	93.0	95.0					11																	76257009		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76257009G>C	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3442G>C	11.37:g.76257009G>C	ENSP00000432327:p.Asp1148His					C11orf30_uc001oxm.2_Missense_Mutation_p.D1050H|C11orf30_uc010rsb.1_Missense_Mutation_p.D1163H|C11orf30_uc010rsc.1_Missense_Mutation_p.D1149H|C11orf30_uc001oxn.2_Missense_Mutation_p.D1149H|C11orf30_uc010rsd.1_Missense_Mutation_p.D1057H|C11orf30_uc010rse.1_Missense_Mutation_p.D395H|C11orf30_uc001oxp.2_Intron	p.D1148H	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			20	3585	+			1148					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.3442G>C	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094796	0.36952	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.39	5.39	0.77823	.	0.047323	0.85682	D	0.000000	T	0.65913	0.2737	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.986;0.992;0.994;0.986;0.994	D;P;P;P;P;P	0.73380	0.98;0.754;0.754;0.819;0.754;0.819	T	0.68758	-0.5324	9	0.62326	D	0.03	-5.4182	19.3464	0.94365	0.0:0.0:1.0:0.0	.	1057;1149;1163;1149;1050;1148	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	H	1050;1148;830;1163;1057;1149;1149;1148	.	ENSP00000334130:D1148H	D	+	1	0	C11orf30	75934657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.823000	0.92018	2.793000	0.96121	0.650000	0.86243	GAC		0.438	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2		NM_020193		25	70	0	0	0	0.083992	0	25	70		
PRSS23	11098	broad.mit.edu	37	11	86518961	86518961	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:86518961C>T	ENST00000280258.5	+	2	701	c.276C>T	c.(274-276)gcC>gcT	p.A92A	PRSS23_ENST00000441050.1_Silent_p.A60A|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	92						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.A92A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGCTCTATGCCAATGGCAGCC	0.517																																						uc001pcb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)|pancreas(1)	2						c.(274-276)GCC>GCT		protease, serine, 23 precursor							64.0	58.0	60.0					11																	86518961		2201	4299	6500	SO:0001819	synonymous_variant	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86518961C>T	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.276C>T	11.37:g.86518961C>T						PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Silent_p.A60A	p.A92A	NM_007173	NP_009104	O95084	PRS23_HUMAN			2	492	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	92					B2RDJ1|B4E2J3|Q6IBI0	Silent	SNP	ENST00000280258.5	37	c.276C>T	CCDS8278.1																																																																																				0.517	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2		NM_007173		17	34	0	0	0	0.045705	0	17	34		
KDM4D	55693	broad.mit.edu	37	11	94731995	94731995	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:94731995G>A	ENST00000335080.5	+	3	2291	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	KDM4D_ENST00000536741.1_Missense_Mutation_p.E487K	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	487					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.E487K(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTCGGGCCCAGAACCTGAGCC	0.622																																						uc001pfe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1459-1461)GAA>AAA		jumonji domain containing 2D							28.0	31.0	30.0					11																	94731995		2201	4298	6499	SO:0001583	missense	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731995G>A	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1459G>A	11.37:g.94731995G>A	ENSP00000334181:p.Glu487Lys						p.E487K	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	2291	+			487					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.1459G>A	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	G	2.509	-0.313507	0.05422	.	.	ENSG00000186280	ENST00000335080	T	0.26223	1.75	3.38	-4.12	0.03916	.	0.289744	0.23077	U	0.052181	T	0.07728	0.0194	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.32981	-0.9886	10	0.06891	T	0.86	-1.5759	4.7404	0.13010	0.4559:0.309:0.235:0.0	.	487	Q6B0I6	KDM4D_HUMAN	K	487	ENSP00000334181:E487K	ENSP00000334181:E487K	E	+	1	0	KDM4D	94371643	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.890000	0.04140	-0.951000	0.03654	-0.367000	0.07326	GAA		0.622	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2		NM_018039		23	53	0	0	0	0.062417	0	23	53		
DDI1	414301	broad.mit.edu	37	11	103908030	103908030	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:103908030C>G	ENST00000302259.3	+	1	723	c.480C>G	c.(478-480)ctC>ctG	p.L160L	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	160							aspartic-type endopeptidase activity (GO:0004190)	p.L160L(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGTCCCTGCTCAAGGAACGCA	0.622																																						uc001phr.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(478-480)CTC>CTG		DDI1, DNA-damage inducible 1, homolog 1							62.0	60.0	61.0					11																	103908030		2202	4299	6501	SO:0001819	synonymous_variant	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908030C>G		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.480C>G	11.37:g.103908030C>G						PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.L160L	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	723	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	160					Q7Z4U6|Q8WTS3	Silent	SNP	ENST00000302259.3	37	c.480C>G	CCDS31660.1																																																																																				0.622	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1		NM_001001711		22	112	0	0	0	0.0918	0	22	112		
GUCY1A2	2977	broad.mit.edu	37	11	106558469	106558469	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:106558469C>G	ENST00000526355.2	-	8	2473	c.2005G>C	c.(2005-2007)Gaa>Caa	p.E669Q	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.E690Q|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.E700Q	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	669					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)	p.E669Q(1)		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)	AAACTTTCTTCTCGTTTTAAT	0.408																																						uc001pjg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(2005-2007)GAA>CAA		guanylate cyclase 1, soluble, alpha 2							66.0	69.0	68.0					11																	106558469		2201	4297	6498	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106558469C>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.2005G>C	11.37:g.106558469C>G	ENSP00000431245:p.Glu669Gln					GUCY1A2_uc010rvo.1_Missense_Mutation_p.E690Q|GUCY1A2_uc009yxn.1_Missense_Mutation_p.E700Q	p.E669Q	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	8	2395	-		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)	669					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.2005G>C	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777116	0.70107	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.81499	-1.5;-1.5;-1.5	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.46442	U	0.000290	T	0.78868	0.4351	N	0.11201	0.11	0.58432	D	0.999993	D;P;D	0.61080	0.989;0.6;0.989	P;B;P	0.62560	0.904;0.429;0.904	T	0.76759	-0.2841	10	0.21540	T	0.41	.	18.7903	0.91971	0.0:1.0:0.0:0.0	.	690;700;669	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	Q	669;700;690	ENSP00000431245:E669Q;ENSP00000282249:E700Q;ENSP00000344874:E690Q	ENSP00000282249:E700Q	E	-	1	0	GUCY1A2	106063679	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.164000	0.77533	2.762000	0.94881	0.467000	0.42956	GAA		0.408	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2				41	57	0	0	0	0.11126	0	41	57		
ROBO4	54538	broad.mit.edu	37	11	124757704	124757704	+	Missense_Mutation	SNP	G	G	A	rs201758034	byFrequency	TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:124757704G>A	ENST00000306534.3	-	13	2466	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.R516W	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	661					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R661W(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGGCTGCCCCGGAGCAGTGGG	0.577													G|||	5	0.000998403	0.0	0.0	5008	,	,		17453	0.004		0.0	False		,,,				2504	0.001					uc001qbg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1981-1983)CGG>TGG		roundabout homolog 4, magic roundabout							49.0	58.0	55.0					11																	124757704		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124757704G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1981C>T	11.37:g.124757704G>A	ENSP00000304945:p.Arg661Trp					ROBO4_uc010sas.1_Missense_Mutation_p.R516W|ROBO4_uc001qbh.2_Missense_Mutation_p.R551W|ROBO4_uc001qbi.2_Missense_Mutation_p.R219W|ROBO4_uc010sat.1_Missense_Mutation_p.R219W	p.R661W	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	13	2121	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	661					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1981C>T	CCDS8455.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	15.92	2.975102	0.53720	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.65178	-0.14;0.23	5.3	2.28	0.28536	.	0.000000	0.33110	N	0.005279	T	0.64227	0.2579	L	0.54323	1.7	0.28804	N	0.898632	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.70227	0.968;0.804;0.874	T	0.63690	-0.6580	10	0.37606	T	0.19	.	12.2237	0.54447	0.0:0.0:0.4045:0.5955	.	661;551;661	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	W	661;551;516	ENSP00000304945:R661W;ENSP00000437129:R516W	ENSP00000304945:R661W	R	-	1	2	ROBO4	124262914	0.983000	0.35010	0.971000	0.41717	0.364000	0.29643	2.457000	0.45005	0.322000	0.23283	-0.309000	0.09137	CGG		0.577	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1		NM_019055		29	23	0	0	0	0.045705	0	29	23		
C12orf60	144608	broad.mit.edu	37	12	14976569	14976569	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:14976569A>G	ENST00000330828.2	+	2	904	c.700A>G	c.(700-702)Atg>Gtg	p.M234V	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	234								p.M234V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GACTATGGAAATGAATATTTC	0.358																																						uc001rcj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(700-702)ATG>GTG		hypothetical protein LOC144608							35.0	36.0	36.0					12																	14976569		2175	4288	6463	SO:0001583	missense	144608							g.chr12:14976569A>G	BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.700A>G	12.37:g.14976569A>G	ENSP00000331691:p.Met234Val						p.M234V	NM_175874	NP_787070	Q5U649	CL060_HUMAN			2	904	+			234					A8K1M7|Q5XKK8|Q8IXY2	Missense_Mutation	SNP	ENST00000330828.2	37	c.700A>G	CCDS8667.1	.	.	.	.	.	.	.	.	.	.	A	3.708	-0.060065	0.07317	.	.	ENSG00000182993	ENST00000330828	T	0.21543	2.0	4.36	-0.428	0.12306	.	1.448340	0.04440	N	0.370758	T	0.12433	0.0302	N	0.14661	0.345	0.09310	N	1	B	0.18610	0.029	B	0.16289	0.015	T	0.30650	-0.9971	10	0.27785	T	0.31	-12.5564	7.032	0.24972	0.5366:0.0:0.4634:0.0	.	234	Q5U649	CL060_HUMAN	V	234	ENSP00000331691:M234V	ENSP00000331691:M234V	M	+	1	0	C12orf60	14867836	0.007000	0.16637	0.003000	0.11579	0.004000	0.04260	0.173000	0.16724	0.037000	0.15575	0.459000	0.35465	ATG		0.358	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1		NM_175874		24	36	0	0	0	0.0918	0	24	36		
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGTCCCAGCTGATTGCTGGGA	0.627																																						uc001reh.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(823-825)CTG>CTA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						26.0	32.0	30.0					12																	20523043		2192	4269	6461	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20523043G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.825G>A	12.37:g.20523043G>A							p.L275L	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			1	847	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	275					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.825G>A	CCDS31754.1																																																																																				0.627	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2				44	39	0	0	0	0.124865	0	44	39		
COL2A1	1280	broad.mit.edu	37	12	48381056	48381056	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:48381056G>T	ENST00000380518.3	-	20	1426	c.1262C>A	c.(1261-1263)tCt>tAt	p.S421Y	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.S352Y	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	421	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.S352Y(1)|p.S421Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACTCACAGCAGATCCTTTGGC	0.557																																						uc001rqu.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(1261-1263)TCT>TAT		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						78.0	82.0	80.0					12																	48381056		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48381056G>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1262C>A	12.37:g.48381056G>T	ENSP00000369889:p.Ser421Tyr					COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.S352Y	p.S421Y	NM_001844	NP_001835	P02458	CO2A1_HUMAN			20	1443	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	421			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.1262C>A	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722389	0.68959	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.94457	-3.43;-3.43	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.96266	0.8782	L	0.56340	1.77	0.80722	D	1	D;D	0.69078	0.994;0.997	D;D	0.81914	0.983;0.995	D	0.96676	0.9500	10	0.87932	D	0	.	16.9284	0.86183	0.0:0.0:1.0:0.0	.	352;421	P02458-1;P02458	.;CO2A1_HUMAN	Y	421;352;352	ENSP00000369889:S421Y;ENSP00000338213:S352Y	ENSP00000338213:S352Y	S	-	2	0	COL2A1	46667323	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.680000	0.61656	2.605000	0.88082	0.655000	0.94253	TCT		0.557	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2		NM_001844		14	49	1	0	1.99824e-07	0.0333	2.08938e-07	14	49		
COL2A1	1280	broad.mit.edu	37	12	48390378	48390378	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:48390378C>G	ENST00000380518.3	-	8	726	c.562G>C	c.(562-564)Gat>Cat	p.D188H	COL2A1_ENST00000337299.6_Missense_Mutation_p.D119H	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	188					axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.D119H(1)|p.D188H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GCCTTTTCATCAAATCCTCCA	0.498																																						uc001rqu.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(562-564)GAT>CAT		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						244.0	244.0	244.0					12																	48390378		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48390378C>G	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.562G>C	12.37:g.48390378C>G	ENSP00000369889:p.Asp188His					COL2A1_uc001rqv.2_Missense_Mutation_p.D119H	p.D188H	NM_001844	NP_001835	P02458	CO2A1_HUMAN			8	743	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	188					A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.562G>C	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170827	0.57584	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.90324	-2.65;-2.64	4.78	4.78	0.61160	.	0.121727	0.51477	D	0.000093	D	0.94466	0.8219	M	0.79011	2.435	0.80722	D	1	P;P	0.49559	0.925;0.877	P;P	0.59487	0.858;0.725	D	0.94666	0.7852	10	0.59425	D	0.04	.	17.1262	0.86714	0.0:1.0:0.0:0.0	.	119;188	P02458-1;P02458	.;CO2A1_HUMAN	H	188;119;119	ENSP00000369889:D188H;ENSP00000338213:D119H	ENSP00000338213:D119H	D	-	1	0	COL2A1	46676645	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.502000	0.81614	2.644000	0.89710	0.563000	0.77884	GAT		0.498	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2		NM_001844		118	413	0	0	0	0.139131	0	118	413		
ZNF641	121274	broad.mit.edu	37	12	48739131	48739131	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:48739131G>C	ENST00000544117.2	-	4	1153	c.445C>G	c.(445-447)Ctg>Gtg	p.L149V	ZNF641_ENST00000547026.1_Missense_Mutation_p.L135V|ZNF641_ENST00000301042.3_Missense_Mutation_p.L149V|ZNF641_ENST00000448928.3_Intron			Q96N77	ZN641_HUMAN	zinc finger protein 641	149	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L149V(1)		breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TGCTTACTCAGAGAGACTACT	0.502																																						uc001rrn.1		NaN																	1	Substitution - Missense(1)	p.L149L(1)	urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(445-447)CTG>GTG		zinc finger protein 641							89.0	84.0	86.0					12																	48739131		2203	4300	6503	SO:0001583	missense	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48739131G>C	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.445C>G	12.37:g.48739131G>C	ENSP00000437832:p.Leu149Val					ZNF641_uc001rro.1_Missense_Mutation_p.L135V|ZNF641_uc010sls.1_Intron	p.L149V	NM_152320	NP_689533	Q96N77	ZN641_HUMAN			4	610	-			149			KRAB.		B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	c.445C>G	CCDS8763.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.067763|4.067763	0.76301|0.76301	.|.	.|.	ENSG00000167528|ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000547026|ENST00000546874	T;T;T|.	0.02158|.	4.42;4.42;4.42|.	5.54|5.54	4.63|4.63	0.57726|0.57726	Krueppel-associated box (4);|.	0.000000|.	0.46442|.	D|.	0.000296|.	T|T	0.56514|0.56514	0.1990|0.1990	L|L	0.28694|0.28694	0.88|0.88	0.39361|0.39361	D|D	0.965916|0.965916	D|.	0.69078|.	0.997|.	D|.	0.81914|.	0.995|.	T|T	0.61535|0.61535	-0.7043|-0.7043	10|6	0.41790|0.87932	T|D	0.15|0	.|.	12.9469|12.9469	0.58376|0.58376	0.0833:0.0:0.9167:0.0|0.0833:0.0:0.9167:0.0	.|.	149|.	Q96N77|.	ZN641_HUMAN|.	V|C	149;149;135|7	ENSP00000301042:L149V;ENSP00000437832:L149V;ENSP00000449974:L135V|.	ENSP00000301042:L149V|ENSP00000448025:S7C	L|S	-|-	1|2	2|0	ZNF641|ZNF641	47025398|47025398	0.996000|0.996000	0.38824|0.38824	0.998000|0.998000	0.56505|0.56505	0.975000|0.975000	0.68041|0.68041	2.451000|2.451000	0.44952|0.44952	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.502	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1		NM_152320		17	85	0	0	0	0.146539	0	17	85		
KMT2D	8085	broad.mit.edu	37	12	49416552	49416552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:49416552G>A	ENST00000301067.7	-	51	16158	c.16159C>T	c.(16159-16161)Cag>Tag	p.Q5387*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5387					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q5387*(1)|p.Q5117*(1)									CGCCGGTACTGAGATGACTTG	0.562																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		2	Substitution - Nonsense(2)		urinary_tract(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(16159-16161)CAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							110.0	122.0	118.0					12																	49416552		2099	4220	6319	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49416552G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16159C>T	12.37:g.49416552G>A	ENSP00000301067:p.Gln5387*	HNSCC(34;0.089)					p.Q5387*	NM_003482	NP_003473	O14686	MLL2_HUMAN			51	16159	-			5387					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.16159C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	56	26.644177	0.99969	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	.	.	.	5.09	5.09	0.68999	.	0.000000	0.33938	N	0.004409	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6392	0.88130	0.0:0.0:1.0:0.0	.	.	.	.	X	5387;68	.	ENSP00000301067:Q5387X	Q	-	1	0	MLL2	47702819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.760000	0.98935	2.546000	0.85860	0.591000	0.81541	CAG		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				27	25	0	0	0	0.139131	0	27	25		
DIP2B	57609	broad.mit.edu	37	12	51065079	51065079	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:51065079C>T	ENST00000301180.5	+	5	572	c.538C>T	c.(538-540)Cag>Tag	p.Q180*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	180	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.Q180*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CCGTTCAATTCAGGGATCGTC	0.527																																						uc001rwv.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(4)|breast(1)|pancreas(1)	6						c.(538-540)CAG>TAG		DIP2 disco-interacting protein 2 homolog B							143.0	123.0	130.0					12																	51065079		2203	4300	6503	SO:0001587	stop_gained	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51065079C>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.538C>T	12.37:g.51065079C>T	ENSP00000301180:p.Gln180*					DIP2B_uc001rwu.2_Nonsense_Mutation_p.Q180*|DIP2B_uc009zls.1_Nonsense_Mutation_p.Q62*	p.Q180*	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			5	694	+			180			Ser-rich.		Q6B011|Q8N1L5|Q8NB38	Nonsense_Mutation	SNP	ENST00000301180.5	37	c.538C>T	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531056	0.96446	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	.	.	.	5.26	5.26	0.73747	.	0.048121	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-12.5125	19.1286	0.93396	0.0:1.0:0.0:0.0	.	.	.	.	X	190;180	.	ENSP00000301180:Q180X	Q	+	1	0	DIP2B	49351346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.648000	0.83479	2.758000	0.94735	0.586000	0.80456	CAG		0.527	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1		NM_173602		82	71	0	0	0	0.139131	0	82	71		
LETMD1	25875	broad.mit.edu	37	12	51451849	51451849	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:51451849T>C	ENST00000262055.4	+	8	989	c.950T>C	c.(949-951)aTt>aCt	p.I317T	LETMD1_ENST00000547008.1_Missense_Mutation_p.I193T|LETMD1_ENST00000550929.1_Missense_Mutation_p.I261T|LETMD1_ENST00000552739.1_Missense_Mutation_p.I200T|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000418425.2_Missense_Mutation_p.I330T	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	317	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.I317T(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						TCTACGCATATTGGTGAAGAT	0.408																																						uc001rxm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(949-951)ATT>ACT		LETM1 domain containing 1 isoform 1							152.0	140.0	144.0					12																	51451849		2203	4300	6503	SO:0001583	missense	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51451849T>C	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.950T>C	12.37:g.51451849T>C	ENSP00000262055:p.Ile317Thr					LETMD1_uc001rxl.2_Missense_Mutation_p.I261T|LETMD1_uc009zlv.2_RNA|LETMD1_uc001rxs.2_Intron|LETMD1_uc009zlw.2_Missense_Mutation_p.I330T|LETMD1_uc001rxn.2_Missense_Mutation_p.I160T|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Missense_Mutation_p.I200T|LETMD1_uc001rxq.2_Missense_Mutation_p.I193T|LETMD1_uc001rxr.2_RNA|LETMD1_uc001rxt.2_Missense_Mutation_p.I57T	p.I317T	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN			8	1006	+			317			Mitochondrial intermembrane (Potential).|LETM1.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	c.950T>C	CCDS8806.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.455844	0.26161	.	.	ENSG00000050426	ENST00000551477;ENST00000550929;ENST00000262055;ENST00000550814;ENST00000547660;ENST00000418425;ENST00000547008;ENST00000552739	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.1	3.92	0.45320	LETM1-like (1);	0.713362	0.14127	N	0.339596	T	0.29389	0.0732	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.26363	0.016;0.147;0.041;0.001	B;B;B;B	0.27715	0.008;0.082;0.018;0.008	T	0.06552	-1.0820	10	0.45353	T	0.12	0.0287	10.5075	0.44842	0.0:0.0788:0.0:0.9212	.	330;193;200;317	B3KXK7;F8W1Z2;F8VP71;Q6P1Q0	.;.;.;LTMD1_HUMAN	T	284;261;317;125;72;330;193;200	ENSP00000446862:I284T;ENSP00000450163:I261T;ENSP00000262055:I317T;ENSP00000450391:I72T;ENSP00000389903:I330T;ENSP00000447419:I193T;ENSP00000450333:I200T	ENSP00000262055:I317T	I	+	2	0	LETMD1	49738116	0.998000	0.40836	0.668000	0.29813	0.428000	0.31595	4.042000	0.57347	1.027000	0.39758	0.533000	0.62120	ATT		0.408	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1		NM_015416		19	68	0	0	0	0.049695	0	19	68		
KRT78	196374	broad.mit.edu	37	12	53241751	53241751	+	Missense_Mutation	SNP	C	C	A	rs187836523		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:53241751C>A	ENST00000304620.4	-	2	602	c.539G>T	c.(538-540)cGa>cTa	p.R180L	KRT78_ENST00000359499.4_Missense_Mutation_p.R70L	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	180	Coil 1B.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R180L(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGAGCCCCTCGTTCTCCCTG	0.607																																						uc001sbc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(538-540)CGA>CTA		keratin 5b							67.0	69.0	69.0					12																	53241751		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53241751C>A	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.539G>T	12.37:g.53241751C>A	ENSP00000306261:p.Arg180Leu						p.R180L	NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN			2	603	-			180			Coil 1B.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.539G>T	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645234	0.67358	.	.	ENSG00000170423	ENST00000359499;ENST00000304620	D;D	0.90504	-2.68;-2.68	5.21	3.35	0.38373	Filament (1);	0.386473	0.15285	N	0.270486	D	0.95367	0.8496	M	0.92691	3.335	0.09310	N	0.999998	D	0.69078	0.997	D	0.68765	0.96	D	0.87859	0.2663	10	0.87932	D	0	.	7.4052	0.26987	0.0:0.6879:0.0:0.3121	.	180	Q8N1N4	K2C78_HUMAN	L	70;180	ENSP00000352479:R70L;ENSP00000306261:R180L	ENSP00000306261:R180L	R	-	2	0	KRT78	51528018	0.001000	0.12720	0.104000	0.21259	0.902000	0.53008	1.173000	0.31920	1.337000	0.45525	0.555000	0.69702	CGA		0.607	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1		NM_173352		24	68	1	0	3.6726e-16	0.0918	3.92271e-16	24	68		
GDF11	10220	broad.mit.edu	37	12	56142751	56142751	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:56142751C>T	ENST00000257868.5	+	2	864	c.827C>T	c.(826-828)cCg>cTg	p.P276L		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	276					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)		p.P276L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						TCCCTGGGGCCGGGAGCCGAG	0.597																																						uc001shq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(1)	1						c.(826-828)CCG>CTG		growth differentiation factor 11 precursor							24.0	19.0	21.0					12																	56142751		2203	4300	6503	SO:0001583	missense	10220				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:56142751C>T	AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.827C>T	12.37:g.56142751C>T	ENSP00000257868:p.Pro276Leu					GDF11_uc010spv.1_Missense_Mutation_p.P276L	p.P276L	NM_005811	NP_005802	O95390	GDF11_HUMAN			2	864	+			276					Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	c.827C>T	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.17|16.17	3.047647|3.047647	0.55110|0.55110	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	T|.	0.64618|.	-0.11|.	4.39|4.39	4.39|4.39	0.52855|0.52855	Transforming growth factor-beta, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58963|0.58963	0.2159|0.2159	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	B|.	0.22146|.	0.065|.	B|.	0.21708|.	0.036|.	T|T	0.55438|0.55438	-0.8141|-0.8141	10|5	0.27082|.	T|.	0.32|.	-8.7713|-8.7713	14.8487|14.8487	0.70281|0.70281	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	276|.	O95390|.	GDF11_HUMAN|.	L|W	276|249	ENSP00000257868:P276L|.	ENSP00000257868:P276L|.	P|R	+|+	2|1	0|2	GDF11|GDF11	54429018|54429018	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.994000|0.994000	0.84299|0.84299	4.788000|4.788000	0.62439|0.62439	2.450000|2.450000	0.82876|0.82876	0.555000|0.555000	0.69702|0.69702	CCG|CGG		0.597	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3				5	23	0	0	0	0.021553	0	5	23		
B4GALNT1	2583	broad.mit.edu	37	12	58021630	58021630	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:58021630C>T	ENST00000341156.4	-	10	1739	c.1155G>A	c.(1153-1155)gcG>gcA	p.A385A	B4GALNT1_ENST00000418555.2_Silent_p.A330A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	385					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.A385A(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCTCGCGCACCGCGCCCCCCA	0.711																																						uc001spg.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1153-1155)GCG>GCA		beta-1,4-N-acetyl-galactosaminyl transferase 1																																				SO:0001819	synonymous_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58021630C>T	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1155G>A	12.37:g.58021630C>T						B4GALNT1_uc010sru.1_Silent_p.A330A	p.A385A	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		10	1587	-	Melanoma(17;0.122)		385			Lumenal (Potential).		B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	37	c.1155G>A	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	9.669	1.146286	0.21288	.	.	ENSG00000135454	ENST00000547741	.	.	.	4.43	-1.01	0.10169	.	.	.	.	.	T	0.38904	0.1058	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25916	-1.0118	4	.	.	.	-12.5352	0.2825	0.00247	0.2613:0.2413:0.256:0.2415	.	.	.	.	Q	68	.	.	R	-	2	0	B4GALNT1	56307897	0.000000	0.05858	0.990000	0.47175	0.829000	0.46940	-4.092000	0.00297	-0.409000	0.07553	-0.362000	0.07510	CGG		0.711	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1		NM_001478		3	6	0	0	0	0.009096	0	3	6		
IL26	55801	broad.mit.edu	37	12	68595841	68595841	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:68595841C>G	ENST00000229134.4	-	4	450	c.386G>C	c.(385-387)aGa>aCa	p.R129T	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	129					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.R129T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTTCATCTCTCTAGCTGATGA	0.259																																						uc001stx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(385-387)AGA>ACA		interleukin 26 precursor							15.0	15.0	15.0					12																	68595841		2133	4258	6391	SO:0001583	missense	55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68595841C>G	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.386G>C	12.37:g.68595841C>G	ENSP00000229134:p.Arg129Thr						p.R129T	NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	4	421	-			129						Missense_Mutation	SNP	ENST00000229134.4	37	c.386G>C	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504716	0.26949	.	.	ENSG00000111536	ENST00000229134	T	0.62788	0.0	5.08	2.22	0.28083	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.208916	0.32868	N	0.005542	T	0.46718	0.1407	L	0.43152	1.355	0.24129	N	0.99578	B	0.20550	0.046	B	0.18263	0.021	T	0.26360	-1.0105	9	.	.	.	-10.0443	5.379	0.16181	0.0:0.6493:0.1665:0.1843	.	129	Q9NPH9	IL26_HUMAN	T	129	ENSP00000229134:R129T	.	R	-	2	0	IL26	66882108	0.948000	0.32251	0.983000	0.44433	0.137000	0.21094	0.433000	0.21477	0.258000	0.21686	-0.251000	0.11542	AGA		0.259	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1		NM_018402		5	13	0	0	0	0.014758	0	5	13		
RAP1B	5908	broad.mit.edu	37	12	69042512	69042512	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:69042512A>G	ENST00000250559.9	+	2	239	c.8A>G	c.(7-9)gAg>gGg	p.E3G	RAP1B_ENST00000542145.1_Missense_Mutation_p.E3G|RAP1B_ENST00000450214.2_Missense_Mutation_p.E3G|RAP1B_ENST00000393436.5_Missense_Mutation_p.E3G|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000539091.1_Missense_Mutation_p.E3G|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000341355.5_Missense_Mutation_p.E3G|RAP1B_ENST00000543697.1_Missense_Mutation_p.E3G|RAP1B_ENST00000541216.1_Missense_Mutation_p.E3G|RAP1B_ENST00000537460.1_Missense_Mutation_p.E3G|RAP1B_ENST00000540209.1_Missense_Mutation_p.E3G	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	3					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.E3G(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		ATCATGCGTGAGTATAAGCTA	0.373																																						uc001sub.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(7-9)GAG>GGG		SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;							110.0	88.0	96.0					12																	69042512		2203	4300	6503	SO:0001583	missense	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69042512A>G		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.8A>G	12.37:g.69042512A>G	ENSP00000250559:p.Glu3Gly					RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Missense_Mutation_p.E3G|RAP1B_uc010stf.1_Missense_Mutation_p.E3G|RAP1B_uc010stg.1_Missense_Mutation_p.E3G|RAP1B_uc010sth.1_Missense_Mutation_p.E3G|RAP1B_uc010sti.1_Missense_Mutation_p.E3G	p.E3G	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	2	171	+	Breast(13;1.24e-05)		3					B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	ENST00000250559.9	37	c.8A>G	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	A	32	5.133560	0.94517	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000489473;ENST00000422358;ENST00000541167;ENST00000538283;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000545270;ENST00000542018;ENST00000534899;ENST00000453560;ENST00000540209;ENST00000540781;ENST00000539091;ENST00000542145;ENST00000485252;ENST00000456697;ENST00000541386;ENST00000538877;ENST00000543697;ENST00000545720;ENST00000541216	T;T;T;D;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.96396	-0.54;-0.54;-0.54;-4.0;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.44	5.44	0.79542	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.97813	0.9282	M	0.76574	2.34	0.80722	D	1	D;P;D;D	0.89917	1.0;0.659;1.0;1.0	D;B;D;D	0.91635	0.999;0.403;0.998;0.998	D	0.97996	1.0357	9	.	.	.	.	16.2098	0.82148	1.0:0.0:0.0:0.0	.	3;3;3;3	B4DW94;B4DW74;B4DQI8;P61224	.;.;.;RAP1B_HUMAN	G	3	ENSP00000250559:E3G;ENSP00000377085:E3G;ENSP00000401095:E3G;ENSP00000390972:E3G;ENSP00000445138:E3G;ENSP00000444786:E3G;ENSP00000441275:E3G;ENSP00000439966:E3G;ENSP00000399986:E3G;ENSP00000437415:E3G;ENSP00000438088:E3G;ENSP00000441952:E3G;ENSP00000444060:E3G;ENSP00000446318:E3G;ENSP00000440466:E3G;ENSP00000444830:E3G;ENSP00000440014:E3G;ENSP00000444924:E3G;ENSP00000440635:E3G;ENSP00000440708:E3G;ENSP00000438311:E3G;ENSP00000443851:E3G	.	E	+	2	0	RAP1B	67328779	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	GAG		0.373	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3		NM_001010942		520	27	0	0	0	0.139131	0	520	27		
NUP107	57122	broad.mit.edu	37	12	69109478	69109478	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:69109478C>G	ENST00000229179.4	+	12	1373	c.1041C>G	c.(1039-1041)ctC>ctG	p.L347L	NUP107_ENST00000539906.1_Silent_p.L318L|NUP107_ENST00000378905.2_Silent_p.L196L	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	347					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.L347L(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTAGATTACTCAAATATCTCT	0.378																																						uc001suf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(1039-1041)CTC>CTG		nucleoporin 107kDa							148.0	150.0	150.0					12																	69109478		2203	4300	6503	SO:0001819	synonymous_variant	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69109478C>G	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1041C>G	12.37:g.69109478C>G						NUP107_uc001sug.2_Silent_p.L194L|NUP107_uc010stj.1_Silent_p.L318L	p.L347L	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		12	1156	+	Breast(13;6.25e-06)		347					B4DZ67|Q6PJE1	Silent	SNP	ENST00000229179.4	37	c.1041C>G	CCDS8985.1																																																																																				0.378	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1		NM_020401		17	894	0	0	0	0.0333	0	17	894		
PTPRB	5787	broad.mit.edu	37	12	70932750	70932750	+	Silent	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:70932750G>C	ENST00000261266.5	-	25	5198	c.5169C>G	c.(5167-5169)ctC>ctG	p.L1723L	PTPRB_ENST00000451516.2_Silent_p.L1633L|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000334414.6_Silent_p.L1941L|PTPRB_ENST00000538708.1_Silent_p.L1633L|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550358.1_Silent_p.L1853L|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550857.1_Silent_p.L1633L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1723	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1723L(2)|p.L1941L(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTCCGGCAAGAGTGCAATGT	0.368																																						uc001swb.3		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	lung(2)|skin(1)	3						c.(5167-5169)CTC>CTG		protein tyrosine phosphatase, receptor type, B							75.0	75.0	75.0					12																	70932750		1869	4100	5969	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70932750G>C	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5169C>G	12.37:g.70932750G>C						PTPRB_uc010sto.1_Silent_p.L1633L|PTPRB_uc010stp.1_Silent_p.L1633L|PTPRB_uc001swc.3_Silent_p.L1941L|PTPRB_uc001swa.3_Silent_p.L1853L	p.L1723L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		25	5199	-	Renal(347;0.236)		1723			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.5169C>G	CCDS44944.1																																																																																				0.368	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1				13	23	0	0	0	0.09319	0	13	23		
TSPAN8	7103	broad.mit.edu	37	12	71526475	71526475	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:71526475C>G	ENST00000393330.2	-	10	1126	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	TSPAN8_ENST00000247829.3_Missense_Mutation_p.E192Q|TSPAN8_ENST00000546561.1_Missense_Mutation_p.E192Q|TSPAN8_ENST00000552128.1_Missense_Mutation_p.E109Q			P19075	TSN8_HUMAN	tetraspanin 8	192					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E192Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GTTCTCACCTCTTTGTAAACT	0.343																																						uc009zrt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(574-576)GAG>CAG		transmembrane 4 superfamily member 3							208.0	183.0	191.0					12																	71526475		2202	4300	6502	SO:0001583	missense	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71526475C>G	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.574G>C	12.37:g.71526475C>G	ENSP00000377003:p.Glu192Gln					TSPAN8_uc001swk.1_Missense_Mutation_p.E192Q|TSPAN8_uc001swj.1_Missense_Mutation_p.E192Q	p.E192Q	NM_004616	NP_004607	P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		6	736	-			192			Extracellular (Potential).		B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	c.574G>C	CCDS8999.1	.	.	.	.	.	.	.	.	.	.	C	8.222	0.802774	0.16397	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	6.08	-7.2	0.01495	Tetraspanin, EC2 domain (1);	0.754711	0.13199	N	0.406157	T	0.66177	0.2763	L	0.28192	0.835	0.18873	N	0.999988	B	0.18461	0.028	B	0.19946	0.027	T	0.45396	-0.9264	10	0.19147	T	0.46	.	18.7973	0.91999	0.0:0.6986:0.1359:0.1655	.	192	P19075	TSN8_HUMAN	Q	192;192;192;109	ENSP00000377003:E192Q;ENSP00000247829:E192Q;ENSP00000447160:E192Q;ENSP00000449820:E109Q	ENSP00000247829:E192Q	E	-	1	0	TSPAN8	69812742	0.000000	0.05858	0.003000	0.11579	0.082000	0.17680	-1.665000	0.01965	-0.773000	0.04596	-0.340000	0.08031	GAG		0.343	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1		NM_004616		34	120	0	0	0	0.054565	0	34	120		
ZFC3H1	196441	broad.mit.edu	37	12	72057372	72057372	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:72057372G>C	ENST00000378743.3	-	1	377	c.19C>G	c.(19-21)Ccg>Gcg	p.P7A	THAP2_ENST00000308086.2_5'UTR|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.P7A|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.P7A	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	7					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P7A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCGGGGCCGGAGTATCTGCG	0.602											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001swo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(19-21)CCG>GCG		proline/serine-rich coiled-coil 2							67.0	79.0	75.0					12																	72057372		2031	4189	6220	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057372G>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.19C>G	12.37:g.72057372G>C	ENSP00000368017:p.Pro7Ala		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_uc010sts.1_Missense_Mutation_p.P7A|ZFC3H1_uc001swp.2_Missense_Mutation_p.P7A|THAP2_uc001swq.2_5'Flank	p.P7A	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			1	378	-			7					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.19C>G	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952367	0.34471	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.26223	1.75	5.67	2.37	0.29283	.	0.339228	0.22210	N	0.063117	T	0.09069	0.0224	N	0.03608	-0.345	0.54753	D	0.999988	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.13308	-1.0514	10	0.44086	T	0.13	.	2.3011	0.04162	0.2244:0.1959:0.4575:0.1222	.	7;7;7	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	A	7	ENSP00000368017:P7A	ENSP00000368017:P7A	P	-	1	0	ZFC3H1	70343639	0.999000	0.42202	0.787000	0.31911	0.959000	0.62525	0.788000	0.26872	0.617000	0.30160	0.563000	0.77884	CCG		0.602	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1		NM_144982		98	96	0	0	0	0.139131	0	98	96		
C12orf74	338809	broad.mit.edu	37	12	93100450	93100450	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:93100450G>C	ENST00000397833.3	+	2	494	c.43G>C	c.(43-45)Gac>Cac	p.D15H	C12orf74_ENST00000544406.2_Missense_Mutation_p.D15H	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	15								p.D15H(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GCCACCCCAAGACTGTGGAGC	0.557																																						uc001tch.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(43-45)GAC>CAC		hypothetical protein LOC338809							38.0	40.0	39.0					12																	93100450		1931	4137	6068	SO:0001583	missense	338809							g.chr12:93100450G>C	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.43G>C	12.37:g.93100450G>C	ENSP00000380933:p.Asp15His					C12orf74_uc001tci.2_Missense_Mutation_p.D15H	p.D15H	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN			2	273	+			15					F5H4P0	Missense_Mutation	SNP	ENST00000397833.3	37	c.43G>C	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625592	0.28889	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.74	1.65	0.23941	.	.	.	.	.	T	0.21267	0.0512	N	0.08118	0	0.09310	N	1	P;P	0.49447	0.924;0.924	P;P	0.53313	0.634;0.723	T	0.08046	-1.0741	8	0.33940	T	0.23	0.7194	4.2293	0.10596	0.231:0.1851:0.5838:0.0	.	15;15	F5H4P0;Q32Q52	.;CL074_HUMAN	H	15	.	ENSP00000380933:D15H	D	+	1	0	C12orf74	91624581	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.462000	0.21956	0.133000	0.18654	0.561000	0.74099	GAC		0.557	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1		NM_001037671		17	55	0	0	0	0.0333	0	17	55		
C12orf74	338809	broad.mit.edu	37	12	93100519	93100519	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:93100519G>C	ENST00000397833.3	+	2	563	c.112G>C	c.(112-114)Gac>Cac	p.D38H	C12orf74_ENST00000544406.2_Missense_Mutation_p.D38H	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	38								p.D38H(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCTCCAGTTTGACCGGCAAGC	0.622																																						uc001tch.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(112-114)GAC>CAC		hypothetical protein LOC338809							38.0	41.0	40.0					12																	93100519		1912	4123	6035	SO:0001583	missense	338809							g.chr12:93100519G>C	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.112G>C	12.37:g.93100519G>C	ENSP00000380933:p.Asp38His					C12orf74_uc001tci.2_Missense_Mutation_p.D38H	p.D38H	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN			2	342	+			38					F5H4P0	Missense_Mutation	SNP	ENST00000397833.3	37	c.112G>C	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628073	0.66901	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	T	0.56031	0.1958	L	0.27053	0.805	0.31523	N	0.662118	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60429	-0.7265	8	0.66056	D	0.02	.	13.6125	0.62088	0.0:0.0:1.0:0.0	.	38;38	F5H4P0;Q32Q52	.;CL074_HUMAN	H	38	.	ENSP00000380933:D38H	D	+	1	0	C12orf74	91624650	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	1.594000	0.36697	2.585000	0.87301	0.462000	0.41574	GAC		0.622	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1		NM_001037671		23	70	0	0	0	0.116897	0	23	70		
ACACB	32	broad.mit.edu	37	12	109702924	109702924	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:109702924G>C	ENST00000338432.7	+	51	7071	c.6952G>C	c.(6952-6954)Gag>Cag	p.E2318Q	ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.E2248Q|ACACB_ENST00000377848.3_Missense_Mutation_p.E2318Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2318					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.E2318*(1)|p.E2318Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGACATCCTGGAGTGGAAGAC	0.647																																						uc001tob.2		NaN																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		urinary_tract(1)|lung(1)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(6952-6954)GAG>CAG		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						75.0	74.0	74.0					12																	109702924		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109702924G>C	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6952G>C	12.37:g.109702924G>C	ENSP00000341044:p.Glu2318Gln					ACACB_uc001toc.2_Missense_Mutation_p.E2318Q|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.E984Q	p.E2318Q	NM_001093	NP_001084	O00763	ACACB_HUMAN			51	7071	+			2318					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.6952G>C	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915102	0.52546	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000537279	T;T;T	0.31769	1.48;1.48;1.48	3.9	3.9	0.45041	Carboxyl transferase (1);	0.301586	0.35179	N	0.003383	T	0.26195	0.0639	L	0.43152	1.355	0.80722	D	1	B	0.18310	0.027	B	0.21360	0.034	T	0.05533	-1.0879	10	0.24483	T	0.36	.	13.4395	0.61104	0.0:0.1588:0.8411:0.0	.	2318	O00763	ACACB_HUMAN	Q	2318;2318;2248;1549;12	ENSP00000341044:E2318Q;ENSP00000367079:E2318Q;ENSP00000367085:E2248Q	ENSP00000341044:E2318Q	E	+	1	0	ACACB	108187307	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.689000	0.84165	2.122000	0.65172	0.555000	0.69702	GAG		0.647	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1		NM_001093		30	150	0	0	0	0.134883	0	30	150		
ATP2A2	488	broad.mit.edu	37	12	110720594	110720594	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:110720594A>G	ENST00000539276.2	+	3	322	c.213A>G	c.(211-213)atA>atG	p.I71M	ATP2A2_ENST00000395494.2_Missense_Mutation_p.I71M|ATP2A2_ENST00000308664.6_Missense_Mutation_p.I71M|ATP2A2_ENST00000552636.1_5'UTR			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	71					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.I71M(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CAGCATGTATATCTTTTGTAA	0.328																																						uc001tqk.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(211-213)ATA>ATG		ATPase, Ca++ transporting, slow twitch 2 isoform							74.0	73.0	73.0					12																	110720594		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110720594A>G		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.213A>G	12.37:g.110720594A>G	ENSP00000440045:p.Ile71Met					ATP2A2_uc001tql.3_Missense_Mutation_p.I71M|ATP2A2_uc010sxy.1_Missense_Mutation_p.I71M	p.I71M	NM_170665	NP_733765	P16615	AT2A2_HUMAN			3	776	+			71			Lumenal (By similarity).		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.213A>G	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.917893	0.92249	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	T;T;T	0.81247	-1.47;-1.47;-1.47	5.7	5.7	0.88788	ATPase, P-type cation-transporter, N-terminal (2);ATPase, P-type,  transmembrane domain (1);	0.041188	0.85682	D	0.000000	D	0.91610	0.7349	H	0.95917	3.74	0.80722	D	1	P;P;D	0.53151	0.95;0.907;0.958	P;P;P	0.56343	0.784;0.739;0.796	D	0.94116	0.7375	10	0.87932	D	0	.	15.9583	0.79906	1.0:0.0:0.0:0.0	.	71;71;71	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	M	71	ENSP00000311186:I71M;ENSP00000378872:I71M;ENSP00000440045:I71M	ENSP00000311186:I71M	I	+	3	3	ATP2A2	109204977	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.807000	0.69157	2.171000	0.68590	0.533000	0.62120	ATA		0.328	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1		NM_001681		19	59	0	0	0	0.055883	0	19	59		
CCDC63	160762	broad.mit.edu	37	12	111291361	111291361	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:111291361G>T	ENST00000308208.5	+	3	404	c.162G>T	c.(160-162)caG>caT	p.Q54H	CCDC63_ENST00000545036.1_Missense_Mutation_p.Q14H|CCDC63_ENST00000552694.1_Intron|CCDC63_ENST00000550317.1_Intron	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	54				RQQFRKMVESRKSFKFRNQQKIASQY -> VGSAVAAAVGQ AARAATDKQSGPRHC (in Ref. 3; AAH64580). {ECO:0000305}.				p.Q54H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GAAACCAGCAGAAGATTGCGA	0.512																																						uc001trv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(6)|ovary(1)|pancreas(1)	8						c.(160-162)CAG>CAT		coiled-coil domain containing 63							94.0	95.0	95.0					12																	111291361		2203	4300	6503	SO:0001583	missense	160762							g.chr12:111291361G>T	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.162G>T	12.37:g.111291361G>T	ENSP00000312399:p.Gln54His					CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.Q14H|CCDC63_uc001trw.1_Intron	p.Q54H	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			3	357	+			54	RQQFRKMVESRKSFKFRNQQKIASQY -> VGSAVAAAVGQ AARAATDKQSGPRHC (in Ref. 2; AAH64580).		Potential.		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	c.162G>T	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	G	3.821	-0.037695	0.07497	.	.	ENSG00000173093	ENST00000545036;ENST00000308208	T;T	0.32753	1.44;1.44	5.33	2.27	0.28462	.	0.475298	0.23985	N	0.042628	T	0.21307	0.0513	L	0.38531	1.155	0.09310	N	0.999999	B	0.24920	0.114	B	0.18561	0.022	T	0.14868	-1.0457	10	0.42905	T	0.14	.	8.682	0.34214	0.0:0.1444:0.5587:0.2969	.	54	Q8NA47	CCD63_HUMAN	H	14;54	ENSP00000445881:Q14H;ENSP00000312399:Q54H	ENSP00000312399:Q54H	Q	+	3	2	CCDC63	109775744	0.600000	0.26899	0.258000	0.24420	0.035000	0.12851	0.214000	0.17541	0.710000	0.31997	0.561000	0.74099	CAG		0.512	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2		NM_152591		12	39	1	0	7.03913e-09	0.09319	7.41223e-09	12	39		
CUX2	23316	broad.mit.edu	37	12	111655742	111655742	+	Splice_Site	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:111655742G>T	ENST00000261726.6	+	3	376		c.e3+1		CUX2_ENST00000551604.2_Splice_Site	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2						cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCAAGCCGAGGTAAGACCCAG	0.562																																						uc001tsa.1		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(3)|skin(2)|breast(1)	6						c.e3+1		cut-like 2							73.0	79.0	77.0					12																	111655742		1883	4103	5986	SO:0001630	splice_region_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111655742G>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.222+1G>T	12.37:g.111655742G>T						CUX2_uc001tsb.1_Splice_Site_p.E129_splice	p.E74_splice	NM_015267	NP_056082	O14529	CUX2_HUMAN			3	375	+								A7E2Y4	Splice_Site	SNP	ENST00000261726.6	37	c.222_splice	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138526	0.77775	.	.	ENSG00000111249	ENST00000261726;ENST00000397643;ENST00000552889	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0988	0.89499	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CUX2	110140125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.285000	0.89914	2.636000	0.89361	0.655000	0.94253	.		0.562	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1		NM_015267	Intron	53	66	1	0	8.81991e-31	0.139131	9.73457e-31	53	66		
NAA25	80018	broad.mit.edu	37	12	112477050	112477050	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:112477050C>G	ENST00000261745.4	-	22	2880	c.2632G>C	c.(2632-2634)Gaa>Caa	p.E878Q	MIR3657_ENST00000584818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	878						cytoplasm (GO:0005737)		p.E878Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATGCTGGTTTCTTTTTTCTTC	0.348																																						uc001ttm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(2632-2634)GAA>CAA		mitochondrial distribution and morphology 20							214.0	190.0	198.0					12																	112477050		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112477050C>G	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2632G>C	12.37:g.112477050C>G	ENSP00000261745:p.Glu878Gln					NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.E850Q|NAA25_uc009zwa.1_Missense_Mutation_p.E856Q	p.E878Q	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			22	2652	-			878					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.2632G>C	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684407	0.47991	.	.	ENSG00000111300	ENST00000261745	T	0.26373	1.74	5.69	5.69	0.88448	.	0.307287	0.34110	N	0.004247	T	0.20941	0.0504	L	0.27053	0.805	0.54753	D	0.999986	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.004	T	0.04551	-1.0943	10	0.21014	T	0.42	-17.7788	18.7963	0.91995	0.0:1.0:0.0:0.0	.	878;878	A8K8X0;Q14CX7	.;NAA25_HUMAN	Q	878	ENSP00000261745:E878Q	ENSP00000261745:E878Q	E	-	1	0	NAA25	110961433	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.566000	0.73978	2.690000	0.91761	0.585000	0.79938	GAA		0.348	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1		NM_024953		17	38	0	0	0	0.146539	0	17	38		
HECTD4	283450	broad.mit.edu	37	12	112694164	112694164	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:112694164C>G	ENST00000430131.2	-	20	3136	c.1991G>C	c.(1990-1992)aGa>aCa	p.R664T	HECTD4_ENST00000550722.1_Missense_Mutation_p.R950T|HECTD4_ENST00000377560.5_Missense_Mutation_p.R914T|RP3-521E19.2_ENST00000547401.1_RNA			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	664					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R664T(1)|p.R914T(1)									GCTATCAAATCTAAGGTACAG	0.443																																						uc009zwc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|lung(1)	2						c.(1990-1992)AGA>ACA		chromosome 12 open reading frame 51							126.0	129.0	128.0					12																	112694164		2203	4300	6503	SO:0001583	missense	283450							g.chr12:112694164C>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1991G>C	12.37:g.112694164C>G	ENSP00000404379:p.Arg664Thr					C12orf51_uc010syk.1_Missense_Mutation_p.R487T|C12orf51_uc001tts.2_Missense_Mutation_p.R487T|C12orf51_uc001ttt.3_Missense_Mutation_p.R485T	p.R664T	NM_001109662	NP_001103132					14	2009	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.1991G>C		.	.	.	.	.	.	.	.	.	.	C	36	5.614237	0.96637	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.49432	0.78;0.78;0.8	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	N	0.24115	0.695	0.51482	D	0.999923	D;D;D	0.57899	0.981;0.967;0.981	D;D;D	0.66351	0.943;0.916;0.943	T	0.59815	-0.7383	10	0.87932	D	0	.	19.4096	0.94665	0.0:1.0:0.0:0.0	.	664;664;664	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	T	914;664;950	ENSP00000366783:R914T;ENSP00000404379:R664T;ENSP00000449784:R950T	ENSP00000366783:R914T	R	-	2	0	C12orf51	111178547	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	7.298000	0.78815	2.820000	0.97059	0.655000	0.94253	AGA		0.443	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813		26	101	0	0	0	0.134883	0	26	101		
VSIG10	54621	broad.mit.edu	37	12	118517226	118517226	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:118517226C>G	ENST00000359236.5	-	4	1126	c.850G>C	c.(850-852)Gat>Cat	p.D284H	VSIG10_ENST00000536905.1_5'Flank	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	284	Ig-like C2-type 3.					integral component of membrane (GO:0016021)		p.D284H(1)		endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TTCTTGCCATCCGACAGCTGG	0.537																																						uc001tws.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(850-852)GAT>CAT		V-set and immunoglobulin domain containing 10							93.0	101.0	98.0					12																	118517226		2103	4222	6325	SO:0001583	missense	54621					integral to membrane		g.chr12:118517226C>G		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.850G>C	12.37:g.118517226C>G	ENSP00000352172:p.Asp284His						p.D284H	NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN			4	1184	-			284			Ig-like C2-type 3.|Extracellular (Potential).		Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	c.850G>C	CCDS44992.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411785	0.62399	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.23147	1.92;1.92	6.0	5.11	0.69529	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.148494	0.31279	N	0.007938	T	0.28665	0.0710	L	0.55103	1.725	0.26688	N	0.971407	P	0.39883	0.693	B	0.41619	0.361	T	0.24048	-1.0171	10	0.87932	D	0	-16.1823	10.9997	0.47598	0.0:0.7623:0.1647:0.073	.	284	Q8N0Z9	VSI10_HUMAN	H	284;183	ENSP00000352172:D284H;ENSP00000442861:D183H	ENSP00000352172:D284H	D	-	1	0	VSIG10	117001609	0.966000	0.33281	0.856000	0.33681	0.956000	0.61745	2.116000	0.41930	1.552000	0.49463	0.650000	0.86243	GAT		0.537	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2		NM_019086		12	72	0	0	0	0.080935	0	12	72		
COQ5	84274	broad.mit.edu	37	12	120966898	120966898	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:120966898C>T	ENST00000288532.6	-	1	87	c.47G>A	c.(46-48)gGg>gAg	p.G16E	COQ5_ENST00000445328.2_Missense_Mutation_p.G16E	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	16					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)	p.G16E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGCGACCACCCACGGCCGCA	0.647																																						uc001tyn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(46-48)GGG>GAG		coenzyme Q5 homolog, methyltransferase							26.0	29.0	28.0					12																	120966898		2202	4300	6502	SO:0001583	missense	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120966898C>T	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.47G>A	12.37:g.120966898C>T	ENSP00000288532:p.Gly16Glu					COQ5_uc001tyo.2_5'UTR|COQ5_uc010szj.1_Missense_Mutation_p.G16E	p.G16E	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN			1	67	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		16					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	c.47G>A	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403446	0.83230	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000547943	T;T;T	0.77358	-0.04;-1.09;-0.31	5.76	4.87	0.63330	.	0.373244	0.31427	N	0.007669	T	0.65863	0.2732	L	0.29908	0.895	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.08055	0.002;0.003	T	0.52215	-0.8605	10	0.25751	T	0.34	.	12.3544	0.55167	0.0:0.9186:0.0:0.0814	.	16;16	B4DP72;Q5HYK3	.;COQ5_HUMAN	E	16	ENSP00000288532:G16E;ENSP00000401798:G16E;ENSP00000449874:G16E	ENSP00000288532:G16E	G	-	2	0	COQ5	119451281	0.010000	0.17322	0.547000	0.28179	0.195000	0.23768	2.077000	0.41557	1.443000	0.47586	0.655000	0.94253	GGG		0.647	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2		NM_032314		27	25	0	0	0	0.116897	0	27	25		
DNAH10	196385	broad.mit.edu	37	12	124298176	124298176	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:124298176G>A	ENST00000409039.3	+	19	3281	c.3256G>A	c.(3256-3258)Gaa>Aaa	p.E1086K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1086	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E904K(1)|p.E1086K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAATCTCCATGAAGAGATGGA	0.423																																						uc001uft.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3256-3258)GAA>AAA		dynein, axonemal, heavy chain 10							63.0	57.0	59.0					12																	124298176		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124298176G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3256G>A	12.37:g.124298176G>A	ENSP00000386770:p.Glu1086Lys					DNAH10_uc010tav.1_Missense_Mutation_p.E628K|DNAH10_uc010taw.1_Missense_Mutation_p.E571K	p.E1086K	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	19	3281	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1086			Stem (By similarity).|Potential.		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.3256G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207511	0.39003	.	.	ENSG00000197653	ENST00000409039	T	0.22539	1.95	5.59	4.67	0.58626	.	0.412177	0.21507	N	0.073437	T	0.26159	0.0638	M	0.65498	2.005	0.29792	N	0.833105	B;B;B	0.27117	0.168;0.074;0.003	B;B;B	0.29862	0.108;0.051;0.011	T	0.12967	-1.0527	10	0.20519	T	0.43	.	15.5859	0.76482	0.0:0.0:0.8612:0.1388	.	1086;961;1086	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	K	1086	ENSP00000386770:E1086K	ENSP00000386770:E1086K	E	+	1	0	DNAH10	122864129	1.000000	0.71417	0.021000	0.16686	0.613000	0.37349	6.518000	0.73764	1.293000	0.44690	0.563000	0.77884	GAA		0.423	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				26	66	0	0	0	0.099896	0	26	66		
NCOR2	9612	broad.mit.edu	37	12	124957593	124957593	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:124957593G>A	ENST00000404121.2	-	0	651				NCOR2_ENST00000356219.3_Missense_Mutation_p.R166W|NCOR2_ENST00000429285.2_Missense_Mutation_p.R166W|NCOR2_ENST00000404621.1_Missense_Mutation_p.R166W|NCOR2_ENST00000397355.1_Missense_Mutation_p.R166W|NCOR2_ENST00000405201.1_Missense_Mutation_p.R166W	NM_001206654.1	NP_001193583.1	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2						cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.R166W(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TTGGACAGCCGTGGCGGCACC	0.602																																						uc010tba.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(3)|ovary(1)	4						c.(496-498)CGG>TGG		nuclear receptor co-repressor 2 isoform 2							89.0	96.0	93.0					12																	124957593		2025	4189	6214			9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124957593G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000404121.2:c.-795C>T	12.37:g.124957593G>A						NCOR2_uc010tay.1_Missense_Mutation_p.R166W|NCOR2_uc010taz.1_Missense_Mutation_p.R166W|NCOR2_uc010tbb.1_Missense_Mutation_p.R166W|NCOR2_uc010tbc.1_Missense_Mutation_p.R166W|NCOR2_uc001ugj.1_Missense_Mutation_p.R166W|NCOR2_uc001ugk.1_Missense_Mutation_p.R166W	p.R166W	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	4	613	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		166					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000404121.2	37	c.496C>T		.	.	.	.	.	.	.	.	.	.	G	2.451	-0.326466	0.05350	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698;ENST00000448008	T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.53	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	L	0.55481	1.735	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.981;0.981;0.992	T	0.58295	-0.7661	10	0.87932	D	0	-31.6691	16.1812	0.81903	0.0:0.0:0.5001:0.4999	.	166;166;166	C9J0Q5;C9J239;C9JFD3	.;.;.	W	166;166;166;166;166;166;166;166;87	ENSP00000384018:R166W;ENSP00000384202:R166W;ENSP00000348551:R166W;ENSP00000380513:R166W;ENSP00000400281:R166W;ENSP00000402808:R166W;ENSP00000405367:R166W;ENSP00000403034:R87W	ENSP00000348551:R166W	R	-	1	2	NCOR2	123523546	0.976000	0.34144	0.299000	0.25016	0.026000	0.11368	1.751000	0.38339	0.278000	0.22164	-1.367000	0.01198	CGG		0.602	NCOR2-203	KNOWN	basic	protein_coding	protein_coding			NM_006312		26	88	0	0	0	0.0918	0	26	88		
TMEM132D	121256	broad.mit.edu	37	12	129559559	129559559	+	Missense_Mutation	SNP	T	T	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:129559559T>G	ENST00000422113.2	-	9	2487	c.2161A>C	c.(2161-2163)Acg>Ccg	p.T721P	TMEM132D_ENST00000389441.4_Missense_Mutation_p.T259P	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	721					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.T721P(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCAAGGGCGTGACTGAGCCA	0.473																																						uc009zyl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2161-2163)ACG>CCG		transmembrane protein 132D precursor							60.0	55.0	56.0					12																	129559559		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559559T>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2161A>C	12.37:g.129559559T>G	ENSP00000408581:p.Thr721Pro					TMEM132D_uc001uia.2_Missense_Mutation_p.T259P	p.T721P	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2489	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	721			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2161A>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.951132	0.53186	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.14144	2.53;2.53	4.3	4.3	0.51218	.	0.258733	0.34603	N	0.003836	T	0.36441	0.0967	M	0.84585	2.705	0.50039	D	0.999841	D;D	0.60575	0.988;0.957	P;P	0.59424	0.735;0.857	T	0.36578	-0.9742	9	.	.	.	-22.6288	13.7269	0.62763	0.0:0.0:0.0:1.0	.	721;259	Q14C87;Q14C87-2	T132D_HUMAN;.	P	259;721	ENSP00000374092:T259P;ENSP00000408581:T721P	.	T	-	1	0	TMEM132D	128125512	1.000000	0.71417	0.976000	0.42696	0.601000	0.36947	0.991000	0.29654	1.699000	0.51192	0.379000	0.24179	ACG		0.473	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1		NM_133448		31	100	0	0	0	0.059317	0	31	100		
PSPC1	55269	broad.mit.edu	37	13	20315736	20315736	+	Missense_Mutation	SNP	C	C	G	rs199971874		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr13:20315736C>G	ENST00000338910.4	-	5	1180	c.1021G>C	c.(1021-1023)Gag>Cag	p.E341Q		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	341	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E341Q(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTTTGCAACTCTTGGTTTCTG	0.328																																						uc001uml.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(1021-1023)GAG>CAG		paraspeckle protein 1							137.0	123.0	127.0					13																	20315736		1818	4079	5897	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20315736C>G	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1021G>C	13.37:g.20315736C>G	ENSP00000343966:p.Glu341Gln					PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	p.E341Q	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	5	1207	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	341			Sufficient for perinucleolar caps localization and interaction with NONO.|Potential.|Sufficient for paraspeckles localization.		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.1021G>C	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500884	0.85176	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.21191	2.02	5.49	5.49	0.81192	.	0.054268	0.64402	D	0.000001	T	0.34571	0.0902	L	0.49513	1.565	0.80722	D	1	P	0.51057	0.941	P	0.52217	0.693	T	0.01925	-1.1246	10	0.52906	T	0.07	-17.0024	18.9836	0.92763	0.0:1.0:0.0:0.0	.	341	Q8WXF1	PSPC1_HUMAN	Q	341;281	ENSP00000343966:E341Q	ENSP00000343966:E341Q	E	-	1	0	PSPC1	19213736	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	7.721000	0.84768	2.573000	0.86826	0.650000	0.86243	GAG		0.328	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2				21	91	0	0	0	0.108266	0	21	91		
FRY	10129	broad.mit.edu	37	13	32802752	32802752	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr13:32802752A>T	ENST00000380250.3	+	40	5862	c.5366A>T	c.(5365-5367)gAt>gTt	p.D1789V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1789						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D1789V(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCTGAAACAGATGAGAAGGCA	0.512																																						uc001utx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(5365-5367)GAT>GTT		furry homolog							110.0	112.0	111.0					13																	32802752		1995	4177	6172	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32802752A>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5366A>T	13.37:g.32802752A>T	ENSP00000369600:p.Asp1789Val					FRY_uc010tdw.1_RNA	p.D1789V	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	40	5862	+		Lung SC(185;0.0271)	1789					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.5366A>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.696568	0.88830	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.25749	1.78	6.02	6.02	0.97574	.	0.103414	0.64402	D	0.000004	T	0.48132	0.1483	M	0.72118	2.19	0.80722	D	1	D	0.61697	0.99	P	0.62740	0.906	T	0.34477	-0.9827	10	0.30854	T	0.27	.	16.542	0.84395	1.0:0.0:0.0:0.0	.	1789	Q5TBA9	FRY_HUMAN	V	1789;626	ENSP00000369600:D1789V	ENSP00000369600:D1789V	D	+	2	0	FRY	31700752	1.000000	0.71417	0.619000	0.29118	0.998000	0.95712	8.962000	0.93254	2.304000	0.77564	0.528000	0.53228	GAT		0.512	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037		50	68	0	0	0	0.139131	0	50	68		
LECT1	11061	broad.mit.edu	37	13	53282807	53282807	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr13:53282807C>T	ENST00000377962.3	-	6	731	c.653G>A	c.(652-654)aGa>aAa	p.R218K	LECT1_ENST00000448904.2_Missense_Mutation_p.R218K			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	218					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)		p.R218K(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		AACAATTTTTCTTACCACTTC	0.393																																						uc001vhf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(652-654)AGA>AAA		leukocyte cell derived chemotaxin 1 isoform 1							176.0	165.0	169.0					13																	53282807		2203	4300	6503	SO:0001583	missense	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53282807C>T	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.653G>A	13.37:g.53282807C>T	ENSP00000367198:p.Arg218Lys					LECT1_uc001vhg.2_Missense_Mutation_p.R218K|LECT1_uc001vhh.2_Missense_Mutation_p.R207K	p.R218K	NM_007015	NP_008946	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	6	764	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	218					Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	c.653G>A	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789878	0.50102	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.30714	1.52;1.52	5.06	4.21	0.49690	.	0.202733	0.51477	D	0.000095	T	0.26991	0.0661	L	0.55103	1.725	0.45662	D	0.998586	P;P	0.43231	0.801;0.7	B;B	0.34452	0.183;0.089	T	0.05869	-1.0859	10	0.34782	T	0.22	-3.3519	14.6419	0.68732	0.0:0.8374:0.1626:0.0	.	218;218	O75829-2;O75829	.;LECT1_HUMAN	K	218	ENSP00000388576:R218K;ENSP00000367198:R218K	ENSP00000367198:R218K	R	-	2	0	LECT1	52180808	1.000000	0.71417	0.983000	0.44433	0.994000	0.84299	2.428000	0.44749	1.235000	0.43724	0.555000	0.69702	AGA		0.393	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3				33	111	0	0	0	0.069456	0	33	111		
PCDH9	5101	broad.mit.edu	37	13	67801771	67801771	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr13:67801771C>G	ENST00000377865.2	-	1	936	c.802G>C	c.(802-804)Ggt>Cgt	p.G268R	PCDH9_ENST00000544246.1_Missense_Mutation_p.G268R|PCDH9_ENST00000328454.5_Missense_Mutation_p.G268R|PCDH9_ENST00000377861.3_Missense_Mutation_p.G268R|PCDH9_ENST00000456367.1_Missense_Mutation_p.G268R			Q9HC56	PCDH9_HUMAN	protocadherin 9	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G268R(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACAGAGGTACCTACGGGAGCA	0.483																																						uc001vik.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(802-804)GGT>CGT		protocadherin 9 isoform 1 precursor							111.0	103.0	106.0					13																	67801771		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801771C>G	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.802G>C	13.37:g.67801771C>G	ENSP00000367096:p.Gly268Arg					PCDH9_uc001vil.2_Missense_Mutation_p.G268R|PCDH9_uc010thl.1_Missense_Mutation_p.G268R|PCDH9_uc001vin.3_Missense_Mutation_p.G268R	p.G268R	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1494	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	268			Extracellular (Potential).|Cadherin 3.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.802G>C	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369226	0.61624	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	6.17	6.17	0.99709	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87313	0.6146	M	0.92412	3.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.88666	0.3192	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	268;268;268;268	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	R	268	ENSP00000442186:G268R;ENSP00000367096:G268R;ENSP00000401699:G268R;ENSP00000332060:G268R;ENSP00000367092:G268R	ENSP00000332060:G268R	G	-	1	0	PCDH9	66699772	1.000000	0.71417	0.970000	0.41538	0.962000	0.63368	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGT		0.483	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1		NM_203487		60	55	0	0	0	0.139131	0	60	55		
MYH7	4625	broad.mit.edu	37	14	23885425	23885425	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:23885425C>T	ENST00000355349.3	-	34	4903	c.4741G>A	c.(4741-4743)Gag>Aag	p.E1581K	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1581					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.E1581K(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCATCTCCTCGTCCTTCTCT	0.647																																						uc001wjx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(4741-4743)GAG>AAG		myosin, heavy chain 7, cardiac muscle, beta							162.0	148.0	153.0					14																	23885425		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23885425C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4741G>A	14.37:g.23885425C>T	ENSP00000347507:p.Glu1581Lys						p.E1581K	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	34	4847	-	all_cancers(95;2.54e-05)		1581			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4741G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829129	0.71258	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.90504	-2.68	4.55	4.55	0.56014	Myosin tail (1);	.	.	.	.	D	0.93387	0.7891	M	0.92459	3.31	0.80722	D	1	B	0.27732	0.187	B	0.31290	0.127	D	0.93695	0.7010	9	0.87932	D	0	.	17.8682	0.88803	0.0:1.0:0.0:0.0	.	1581	P12883	MYH7_HUMAN	K	1581;1586	ENSP00000347507:E1581K	ENSP00000347507:E1581K	E	-	1	0	MYH7	22955265	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.146000	0.77373	2.537000	0.85549	0.655000	0.94253	GAG		0.647	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		NM_000257		51	368	0	0	0	0.139131	0	51	368		
NIN	51199	broad.mit.edu	37	14	51225101	51225101	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:51225101C>G	ENST00000382041.3	-	18	2837	c.2647G>C	c.(2647-2649)Gag>Cag	p.E883Q	NIN_ENST00000324330.9_Missense_Mutation_p.E883Q|NIN_ENST00000530997.2_Missense_Mutation_p.E883Q|NIN_ENST00000245441.5_Missense_Mutation_p.E883Q|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.E883Q|NIN_ENST00000389868.3_Intron	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	883					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.E883Q(2)|p.E889Q(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTTGTTTTCTCTCTCTTAAGA	0.502			T	PDGFRB	MPD																																	uc001wym.2		NaN		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		3	Substitution - Missense(3)		urinary_tract(3)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(2647-2649)GAG>CAG		ninein isoform 5							73.0	70.0	71.0					14																	51225101		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51225101C>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.2647G>C	14.37:g.51225101C>G	ENSP00000371472:p.Glu883Gln					NIN_uc001wyi.2_Missense_Mutation_p.E883Q|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.E889Q|NIN_uc001wyo.2_Missense_Mutation_p.E883Q	p.E883Q	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			18	2838	-	all_epithelial(31;0.00244)|Breast(41;0.127)		883			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.2647G>C	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.09|19.09	3.759721|3.759721	0.69763|0.69763	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|T;T	0.14766|0.15487	2.72;2.49;2.5;2.48|2.42;2.42	5.82|5.82	4.92|4.92	0.64577|0.64577	.|.	0.152320|.	0.56097|.	D|.	0.000022|.	T|T	0.29423|0.29423	0.0733|0.0733	M|M	0.69823|0.69823	2.125|2.125	0.37998|0.37998	D|D	0.934131|0.934131	D;D;D;D|.	0.76494|.	0.999;0.997;0.986;0.998|.	D;D;P;D|.	0.80764|.	0.967;0.918;0.88;0.994|.	T|T	0.04565|0.04565	-1.0942|-1.0942	10|7	0.36615|0.12430	T|T	0.2|0.62	-18.0838|-18.0838	14.2936|14.2936	0.66298|0.66298	0.0:0.9278:0.0:0.0722|0.0:0.9278:0.0:0.0722	.|.	889;883;883;883|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	Q|T	883;866;889;883;883;883|373	ENSP00000245441:E883Q;ENSP00000371472:E883Q;ENSP00000324210:E883Q;ENSP00000412391:E883Q|ENSP00000374519:R373T;ENSP00000433717:R373T	ENSP00000245441:E883Q|ENSP00000374519:R373T	E|R	-|-	1|2	0|0	NIN|NIN	50294851|50294851	0.993000|0.993000	0.37304|0.37304	0.993000|0.993000	0.49108|0.49108	0.962000|0.962000	0.63368|0.63368	3.193000|3.193000	0.50997|0.50997	2.756000|2.756000	0.94617|0.94617	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.502	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2		NM_182946		94	36	0	0	0	0.139131	0	94	36		
DHRS7	51635	broad.mit.edu	37	14	60620715	60620715	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:60620715C>T	ENST00000216500.5	-	4	810	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	DHRS7_ENST00000536410.2_Missense_Mutation_p.E69K|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Missense_Mutation_p.E119K|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000553986.1_5'UTR			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	119						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)	p.E119K(1)		endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		GTAGCCGCTTCATGGGAACCA	0.388																																						uc001xes.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(355-357)GAA>AAA		dehydrogenase/reductase (SDR family) member 7							97.0	102.0	101.0					14																	60620715		2203	4300	6503	SO:0001583	missense	51635						binding|oxidoreductase activity	g.chr14:60620715C>T	AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	21524	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1"""	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.355G>A	14.37:g.60620715C>T	ENSP00000216500:p.Glu119Lys					C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.E69K|DHRS7_uc001xeu.2_Missense_Mutation_p.E119K	p.E119K	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.121)	3	539	-			119					B2R896|Q9UKU2	Missense_Mutation	SNP	ENST00000216500.5	37	c.355G>A	CCDS9743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.03|13.03	2.115090|2.115090	0.37339|0.37339	.|.	.|.	ENSG00000100612|ENSG00000100612	ENST00000216500;ENST00000360557;ENST00000557185;ENST00000536410|ENST00000554101;ENST00000557137	D;D;D|.	0.87571|.	-2.27;-2.27;-2.27|.	6.16|6.16	5.25|5.25	0.73442|0.73442	NAD(P)-binding domain (1);|.	0.263481|.	0.43579|.	D|.	0.000547|.	T|T	0.34395|0.34395	0.0896|0.0896	N|N	0.05050|0.05050	-0.12|-0.12	0.45554|0.45554	D|D	0.998505|0.998505	B;B|.	0.25772|.	0.132;0.134|.	B;B|.	0.27170|.	0.077;0.043|.	T|T	0.15037|0.15037	-1.0451|-1.0451	10|5	0.06891|.	T|.	0.86|.	.|.	10.9361|10.9361	0.47247|0.47247	0.0:0.8028:0.1302:0.067|0.0:0.8028:0.1302:0.067	.|.	119;119|.	F8W9Q4;Q9Y394|.	.;DHRS7_HUMAN|.	K|I	119;119;119;69|113;118	ENSP00000216500:E119K;ENSP00000451882:E119K;ENSP00000442993:E69K|.	ENSP00000216500:E119K|.	E|M	-|-	1|3	0|0	DHRS7|DHRS7	59690468|59690468	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.555000|0.555000	0.35460|0.35460	3.472000|3.472000	0.53114|0.53114	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|ATG		0.388	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276947.2		NM_016029		20	97	0	0	0	0.076483	0	20	97		
KCNH5	27133	broad.mit.edu	37	14	63246455	63246455	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:63246455C>G	ENST00000322893.7	-	10	2278	c.2010G>C	c.(2008-2010)ctG>ctC	p.L670L	KCNH5_ENST00000394968.1_Silent_p.L612L|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	670					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.L670L(2)|p.L612L(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCCGTTTCCTCAGATTGCAAG	0.393																																						uc001xfx.2		NaN																	4	Substitution - coding silent(4)		urinary_tract(2)|lung(2)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2008-2010)CTG>CTC		potassium voltage-gated channel, subfamily H,							112.0	114.0	114.0					14																	63246455		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63246455C>G	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2010G>C	14.37:g.63246455C>G						KCNH5_uc001xfy.2_Intron|KCNH5_uc001xfz.1_Silent_p.L612L	p.L670L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	10	2061	-			670			Cytoplasmic (Potential).		C9JP98	Silent	SNP	ENST00000322893.7	37	c.2010G>C	CCDS9756.1																																																																																				0.393	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1		NM_139318		93	84	0	0	0	0.139131	0	93	84		
IRF2BPL	64207	broad.mit.edu	37	14	77492242	77492242	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:77492242C>G	ENST00000238647.3	-	1	2792	c.1894G>C	c.(1894-1896)Gat>Cat	p.D632H		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	632					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.D632H(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CCCAGAGTATCTGCCACCGAC	0.677																																						uc001xsy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1894-1896)GAT>CAT		chromosome 14 open reading frame 4							12.0	12.0	12.0					14																	77492242		2116	4143	6259	SO:0001583	missense	64207					nucleus		g.chr14:77492242C>G	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1894G>C	14.37:g.77492242C>G	ENSP00000238647:p.Asp632His						p.D632H	NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)	1	2793	-			632					Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	ENST00000238647.3	37	c.1894G>C	CCDS9854.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772430	0.69992	.	.	ENSG00000119669	ENST00000238647	T	0.73469	-0.75	4.48	4.48	0.54585	.	0.000000	0.85682	U	0.000000	D	0.83585	0.5286	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85604	0.1254	10	0.72032	D	0.01	-1.7041	16.3112	0.82872	0.0:1.0:0.0:0.0	.	632	Q9H1B7	I2BPL_HUMAN	H	632	ENSP00000238647:D632H	ENSP00000238647:D632H	D	-	1	0	IRF2BPL	76561995	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.060000	0.76692	2.309000	0.77851	0.462000	0.41574	GAT		0.677	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1		NM_024496		11	31	0	0	0	0.080935	0	11	31		
SERPINA4	5267	broad.mit.edu	37	14	95033347	95033347	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:95033347C>G	ENST00000557004.1	+	3	1111	c.690C>G	c.(688-690)ccC>ccG	p.P230P	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.P230P|SERPINA4_ENST00000555095.1_Silent_p.P230P			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	230					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P230P(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GGACCACTCCCAAAGACTTCT	0.507																																						uc001ydk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(688-690)CCC>CCG		serine (or cysteine) proteinase inhibitor, clade							112.0	104.0	107.0					14																	95033347		2203	4300	6503	SO:0001819	synonymous_variant	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95033347C>G	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.690C>G	14.37:g.95033347C>G						SERPINA4_uc010avd.2_Silent_p.P267P|SERPINA4_uc001ydl.2_Silent_p.P230P	p.P230P	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	756	+			230					Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	c.690C>G	CCDS9927.1																																																																																				0.507	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1		NM_006215		19	121	0	0	0	0.038395	0	19	121		
EVL	51466	broad.mit.edu	37	14	100595958	100595958	+	Missense_Mutation	SNP	G	G	A	rs566542060		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:100595958G>A	ENST00000402714.2	+	7	1374	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	EVL_ENST00000392920.3_Missense_Mutation_p.R259Q|EVL_ENST00000544450.2_Missense_Mutation_p.R263Q			Q9UI08	EVL_HUMAN	Enah/Vasp-like	257	EVH2.				actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)	p.R259Q(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GATGCCAACCGGGCAAGCAGC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		17210	0.001		0.0	False		,,,				2504	0.0					uc001ygt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|ovary(1)	3						c.(769-771)CGG>CAG		Enah/Vasp-like							42.0	41.0	41.0					14																	100595958		2203	4299	6502	SO:0001583	missense	51466				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding	g.chr14:100595958G>A	AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.770G>A	14.37:g.100595958G>A	ENSP00000384720:p.Arg257Gln					EVL_uc001ygv.2_Missense_Mutation_p.R263Q|EVL_uc001ygu.2_Missense_Mutation_p.R259Q|EVL_uc010avu.2_Missense_Mutation_p.R116Q	p.R257Q	NM_016337	NP_057421	Q9UI08	EVL_HUMAN			7	1009	+		Melanoma(154;0.152)	257			EVH2.		A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37	c.770G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.337497	0.95758	.	.	ENSG00000196405	ENST00000402714;ENST00000544450;ENST00000392920;ENST00000539470;ENST00000557384;ENST00000554695	T;T;T;T	0.73363	-0.71;-0.74;-0.71;0.57	5.24	5.24	0.73138	.	0.071648	0.56097	D	0.000027	D	0.84754	0.5542	M	0.65975	2.015	0.50313	D	0.999869	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.72625	0.978;0.975;0.945	T	0.82963	-0.0196	10	0.33141	T	0.24	-22.0554	18.8565	0.92254	0.0:0.0:1.0:0.0	.	263;259;257	B7Z3I5;Q9UI08-2;Q9UI08	.;.;EVL_HUMAN	Q	257;263;259;222;153;74	ENSP00000384720:R257Q;ENSP00000437904:R263Q;ENSP00000376652:R259Q;ENSP00000450979:R153Q	ENSP00000376652:R259Q	R	+	2	0	EVL	99665711	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.290000	0.89925	2.445000	0.82738	0.655000	0.94253	CGG		0.587	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1				45	22	0	0	0	0.131918	0	45	22		
OCA2	4948	broad.mit.edu	37	15	28211933	28211933	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:28211933G>A	ENST00000354638.3	-	15	1694	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	OCA2_ENST00000353809.5_Silent_p.F489F|OCA2_ENST00000382996.2_Silent_p.F513F	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	513					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.F513F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AAATCCCAATGAACATGTGTG	0.498									Oculocutaneous Albinism																													uc001zbh.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(1537-1539)TTC>TTT		oculocutaneous albinism II							97.0	79.0	85.0					15																	28211933		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28211933G>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1539C>T	15.37:g.28211933G>A						OCA2_uc010ayv.2_Silent_p.F489F	p.F513F	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	15	1649	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	513			Extracellular (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.1539C>T	CCDS10020.1																																																																																				0.498	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1		NM_000275		22	19	0	0	0	0.062417	0	22	19		
TJP1	7082	broad.mit.edu	37	15	30011184	30011184	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:30011184G>A	ENST00000346128.6	-	21	3636	c.3162C>T	c.(3160-3162)ctC>ctT	p.L1054L	TJP1_ENST00000545208.2_Silent_p.L974L|TJP1_ENST00000400011.2_Silent_p.L978L|TJP1_ENST00000356107.6_Silent_p.L1054L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1054					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.L1054L(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGGGCTGCTCGAGGTCTCTGC	0.517																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(3160-3162)CTC>CTT		tight junction protein 1 isoform a							308.0	307.0	308.0					15																	30011184		2060	4200	6260	SO:0001819	synonymous_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30011184G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.3162C>T	15.37:g.30011184G>A						TJP1_uc010azl.2_Silent_p.L1042L|TJP1_uc001zcq.2_Silent_p.L978L|TJP1_uc001zcs.2_Silent_p.L974L	p.L1054L	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	21	3637	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1054					B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	c.3162C>T	CCDS42007.1																																																																																				0.517	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3		NM_003257		124	422	0	0	0	0.139131	0	124	422		
OTUD7A	161725	broad.mit.edu	37	15	31776455	31776455	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:31776455C>T	ENST00000307050.4	-	11	1915	c.1823G>A	c.(1822-1824)cGg>cAg	p.R608Q	OTUD7A_ENST00000382902.1_Missense_Mutation_p.R615Q	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	608					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R608Q(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGCGTCGCCCCGCGGCCCACC	0.697																																						uc001zfq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)|skin(1)	2						c.(1822-1824)CGG>CAG		OTU domain containing 7A							13.0	14.0	14.0					15																	31776455		2192	4283	6475	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31776455C>T	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1823G>A	15.37:g.31776455C>T	ENSP00000305926:p.Arg608Gln					OTUD7A_uc001zfr.2_Missense_Mutation_p.R615Q	p.R608Q	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	11	1916	-		all_lung(180;1.6e-09)	608					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1823G>A	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951450	0.34471	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.29142	1.58;1.58	4.6	2.38	0.29361	.	0.340825	0.29348	N	0.012420	T	0.13243	0.0321	N	0.22421	0.69	0.09310	N	0.999998	B;B	0.17852	0.024;0.014	B;B	0.08055	0.003;0.001	T	0.19844	-1.0293	10	0.09338	T	0.73	-21.4759	2.3525	0.04287	0.0:0.3931:0.3127:0.2943	.	615;608	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	Q	608;615	ENSP00000305926:R608Q;ENSP00000372358:R615Q	ENSP00000305926:R608Q	R	-	2	0	OTUD7A	29563747	0.688000	0.27680	0.095000	0.20976	0.951000	0.60555	1.426000	0.34870	2.077000	0.62373	0.555000	0.69702	CGG		0.697	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2		NM_130901		8	14	0	0	0	0.047766	0	8	14		
UNC13C	440279	broad.mit.edu	37	15	54919034	54919034	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:54919034G>A	ENST00000260323.11	+	32	6368	c.6368G>A	c.(6367-6369)gGa>gAa	p.G2123E	UNC13C_ENST00000545554.1_Missense_Mutation_p.G2123E|UNC13C_ENST00000539562.2_Missense_Mutation_p.G44E|UNC13C_ENST00000537900.1_Missense_Mutation_p.G2121E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2123	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.G2123E(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGCATTCTCGGAAAGGAAAAT	0.373																																						uc002ack.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(5)|pancreas(2)	7						c.(6367-6369)GGA>GAA		unc-13 homolog C							45.0	39.0	41.0					15																	54919034		1819	4071	5890	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54919034G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6368G>A	15.37:g.54919034G>A	ENSP00000260323:p.Gly2123Glu					UNC13C_uc002acm.2_Missense_Mutation_p.G44E	p.G2123E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	31	6368	+			2123			C2 2.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.6368G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696762	0.68386	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900;ENST00000539562	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.51	5.75	5.75	0.90469	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.346301	0.35708	N	0.003022	T	0.78059	0.4224	L	0.56769	1.78	0.46376	D	0.999012	B	0.25351	0.124	B	0.37346	0.247	T	0.75013	-0.3467	10	0.54805	T	0.06	.	18.9344	0.92579	0.0:0.0:1.0:0.0	.	2123	Q8NB66	UN13C_HUMAN	E	2123;2123;2121;44	ENSP00000260323:G2123E;ENSP00000438156:G2123E;ENSP00000442569:G2121E;ENSP00000443886:G44E	ENSP00000260323:G2123E	G	+	2	0	UNC13C	52706326	1.000000	0.71417	0.980000	0.43619	0.679000	0.39708	7.901000	0.87382	2.717000	0.92951	0.585000	0.79938	GGA		0.373	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3		NM_173166		6	17	0	0	0	0.038147	0	6	17		
SLTM	79811	broad.mit.edu	37	15	59179725	59179725	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:59179725A>T	ENST00000380516.2	-	18	2477	c.2390T>A	c.(2389-2391)gTt>gAt	p.V797D	SLTM_ENST00000536328.1_Missense_Mutation_p.V366D|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	797	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V797D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACTTTGACCAACAAAGCGATC	0.403																																						uc002afp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2389-2391)GTT>GAT		modulator of estrogen induced transcription							93.0	85.0	88.0					15																	59179725		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59179725A>T	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2390T>A	15.37:g.59179725A>T	ENSP00000369887:p.Val797Asp					SLTM_uc002afn.2_Missense_Mutation_p.V339D|SLTM_uc002afo.2_Missense_Mutation_p.V779D|SLTM_uc002afq.2_Missense_Mutation_p.V366D|SLTM_uc010bgd.2_Missense_Mutation_p.V366D	p.V797D	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			18	2478	-			797			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.2390T>A	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	A	13.33	2.206074	0.39003	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.11169	2.8	5.68	5.68	0.88126	.	0.000000	0.52532	D	0.000072	T	0.22781	0.0550	L	0.40543	1.245	0.80722	D	1	B;D	0.89917	0.324;1.0	B;D	0.85130	0.312;0.997	T	0.05500	-1.0881	10	0.12103	T	0.63	.	15.9384	0.79734	1.0:0.0:0.0:0.0	.	797;366	Q9NWH9;A8K5V8	SLTM_HUMAN;.	D	797;363;366	ENSP00000369887:V797D	ENSP00000369887:V797D	V	-	2	0	SLTM	56967017	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.653000	0.54446	2.159000	0.67721	0.460000	0.39030	GTT		0.403	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1		NM_024755		41	101	0	0	0	0.092188	0	41	101		
CLN6	54982	broad.mit.edu	37	15	68504196	68504196	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:68504196G>A	ENST00000249806.5	-	4	460	c.303C>T	c.(301-303)atC>atT	p.I101I	CLN6_ENST00000566347.1_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000418702.2_Intron|CLN6_ENST00000564752.1_Silent_p.I101I|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000538696.1_Silent_p.I133I	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	101					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.I101I(1)		large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGGACCGCTCGATGAGCTGGG	0.612																																						uc002arf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(301-303)ATC>ATT		CLN6 protein							63.0	58.0	59.0					15																	68504196		2200	4298	6498	SO:0001819	synonymous_variant	54982				cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity	g.chr15:68504196G>A	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.303C>T	15.37:g.68504196G>A						CLN6_uc010ujy.1_Intron|CLN6_uc010ujz.1_Silent_p.I133I	p.I101I	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN			4	461	-			101			Helical; (Potential).		A8K560|B4DDH6|Q6IAB1|Q96SR0	Silent	SNP	ENST00000249806.5	37	c.303C>T	CCDS10227.1																																																																																				0.612	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1		NM_017882		22	72	0	0	0	0.055883	0	22	72		
TBC1D21	161514	broad.mit.edu	37	15	74180837	74180837	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:74180837G>C	ENST00000300504.2	+	10	1044	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	TBC1D21_ENST00000535547.2_Missense_Mutation_p.E285Q|TBC1D21_ENST00000562056.1_Missense_Mutation_p.E284Q|AC108137.1_ENST00000410132.1_RNA	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	321						acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.E321Q(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						GGTTTATGCTGAGCTCATCCA	0.572																																						uc002avz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(961-963)GAG>CAG		TBC1 domain family, member 21							223.0	170.0	188.0					15																	74180837		2198	4297	6495	SO:0001583	missense	161514					intracellular	Rab GTPase activator activity	g.chr15:74180837G>C	BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.961G>C	15.37:g.74180837G>C	ENSP00000300504:p.Glu321Gln					TBC1D21_uc010ulc.1_Missense_Mutation_p.E285Q	p.E321Q	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN			10	1044	+			321					B9A6M2	Missense_Mutation	SNP	ENST00000300504.2	37	c.961G>C	CCDS10252.1	.	.	.	.	.	.	.	.	.	.	G	7.955	0.745782	0.15710	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.12879	2.64;2.65	5.28	5.28	0.74379	Rab-GAP/TBC domain (1);	0.213096	0.32918	N	0.005499	T	0.11580	0.0282	N	0.24115	0.695	0.36655	D	0.877609	P;P	0.50443	0.935;0.47	P;B	0.48368	0.575;0.114	T	0.02766	-1.1113	10	0.02654	T	1	.	14.4272	0.67225	0.0:0.0:1.0:0.0	.	285;321	B9A6M2;Q8IYX1	.;TBC21_HUMAN	Q	321;285	ENSP00000300504:E321Q;ENSP00000439325:E285Q	ENSP00000300504:E321Q	E	+	1	0	TBC1D21	71967890	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	2.870000	0.48451	2.471000	0.83476	0.561000	0.74099	GAG		0.572	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1		NM_153356		8	52	0	0	0	0.047766	0	8	52		
ZNF710	374655	broad.mit.edu	37	15	90622959	90622959	+	Silent	SNP	C	C	T	rs200749761		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:90622959C>T	ENST00000268154.4	+	5	2144	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	631					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F631F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGGAGGACTTCGAGGAGAACG	0.582																																						uc002bov.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1891-1893)TTC>TTT		zinc finger protein 710		C		0,4400		0,0,2200	95.0	84.0	88.0		1893	-2.0	1.0	15		88	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	ZNF710	NM_198526.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		631/665	90622959	1,12995	2200	4298	6498	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90622959C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1893C>T	15.37:g.90622959C>T							p.F631F	NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		5	2016	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		631					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.1893C>T	CCDS10358.1																																																																																				0.582	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1		NM_198526		37	130	0	0	0	0.117977	0	37	130		
FURIN	5045	broad.mit.edu	37	15	91421501	91421501	+	Silent	SNP	C	C	T	rs146865309		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:91421501C>T	ENST00000268171.3	+	8	1086	c.807C>T	c.(805-807)ctC>ctT	p.L269L		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	269	Peptidase S8.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L269L(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAGCCCGCCTCGCCGAGGAGG	0.642																																						uc002bpu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(4)|lung(2)|breast(1)	7						c.(805-807)CTC>CTT		furin preproprotein		C		0,4396		0,0,2198	47.0	41.0	43.0		807	-9.1	0.0	15	dbSNP_134	43	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	FURIN	NM_002569.2		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		269/795	91421501	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91421501C>T	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.807C>T	15.37:g.91421501C>T							p.L269L	NM_002569	NP_002560	P09958	FURIN_HUMAN	Lung(145;0.189)		8	1023	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		269					Q14336|Q6LBS3|Q9UCZ5	Silent	SNP	ENST00000268171.3	37	c.807C>T	CCDS10364.1																																																																																				0.642	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1		NM_002569		17	28	0	0	0	0.038395	0	17	28		
AXIN1	8312	broad.mit.edu	37	16	347183	347183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:347183C>A	ENST00000262320.3	-	7	2199	c.1828G>T	c.(1828-1830)Gag>Tag	p.E610*	AXIN1_ENST00000354866.3_Nonsense_Mutation_p.E610*|AXIN1_ENST00000481769.1_5'Flank	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	610	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.E610*(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TTCCCCGACTCAGCCTTCTTG	0.612																																						uc002cgp.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	breast(1)|liver(1)	2						c.(1828-1830)GAG>TAG		axin 1 isoform a							197.0	190.0	192.0					16																	347183		2203	4300	6503	SO:0001587	stop_gained	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:347183C>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1828G>T	16.37:g.347183C>A	ENSP00000262320:p.Glu610*					AXIN1_uc002cgq.1_Nonsense_Mutation_p.E610*	p.E610*	NM_003502	NP_003493	O15169	AXIN1_HUMAN			7	2005	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	610			Interaction with RNF111.|Interaction with PPP2CA.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Nonsense_Mutation	SNP	ENST00000262320.3	37	c.1828G>T	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	40	8.125453	0.98667	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	.	.	.	5.16	5.16	0.70880	.	0.317054	0.40064	N	0.001192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-22.5612	18.6304	0.91358	0.0:1.0:0.0:0.0	.	.	.	.	X	610	.	ENSP00000262320:E610X	E	-	1	0	AXIN1	287184	0.998000	0.40836	0.041000	0.18516	0.037000	0.13140	5.441000	0.66569	2.421000	0.82119	0.478000	0.44815	GAG		0.612	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3				88	308	1	0	3.33393e-45	0.139131	3.72101e-45	88	308		
JMJD8	339123	broad.mit.edu	37	16	731323	731323	+	IGR	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:731323G>C	ENST00000293882.4	-	0	2123				STUB1_ENST00000564370.1_Missense_Mutation_p.D39H|STUB1_ENST00000219548.4_Missense_Mutation_p.D111H|STUB1_ENST00000566181.2_3'UTR|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000565677.1_Missense_Mutation_p.D39H|LA16c-313D11.9_ENST00000567091.1_RNA			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)		p.D111H(1)		breast(1)	1						GGAGAGCTATGATGAGGCCAT	0.667																																						uc002cit.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(331-333)GAT>CAT		STIP1 homology and U-box containing protein 1							47.0	45.0	46.0					16																	731323		2196	4297	6493	SO:0001628	intergenic_variant	10273				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity	g.chr16:731323G>C		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16			16.37:g.731323G>C						STUB1_uc002ciu.2_Missense_Mutation_p.D39H|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA	p.D111H	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN			2	742	+		Hepatocellular(780;0.00335)	111			TPR 3.		B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Missense_Mutation	SNP	ENST00000293882.4	37	c.331G>C		.	.	.	.	.	.	.	.	.	.	G	32	5.115583	0.94339	.	.	ENSG00000103266	ENST00000219548	T	0.69175	-0.38	4.81	4.81	0.61882	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.056505	0.64402	D	0.000002	T	0.80644	0.4662	M	0.70787	2.145	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.82222	-0.0564	10	0.52906	T	0.07	-20.8043	16.8874	0.86079	0.0:0.0:1.0:0.0	.	111	Q9UNE7	CHIP_HUMAN	H	111	ENSP00000219548:D111H	ENSP00000219548:D111H	D	+	1	0	STUB1	671324	1.000000	0.71417	0.857000	0.33713	0.979000	0.70002	9.448000	0.97600	2.214000	0.71695	0.555000	0.69702	GAT		0.667	JMJD8-201	KNOWN	basic	protein_coding	protein_coding			NM_001005920		18	44	0	0	0	0.038395	0	18	44		
JMJD8	339123	broad.mit.edu	37	16	732373	732373	+	3'UTR	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:732373C>T	ENST00000293882.4	-	0	1425				STUB1_ENST00000564370.1_Missense_Mutation_p.H194Y|STUB1_ENST00000219548.4_Missense_Mutation_p.H266Y|JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000412368.2_3'UTR|LA16c-313D11.9_ENST00000571933.1_RNA|JMJD8_ENST00000609261.1_3'UTR|STUB1_ENST00000565677.1_Missense_Mutation_p.H194Y|LA16c-313D11.9_ENST00000567091.1_RNA			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)		p.H266Y(1)		breast(1)	1						GCGTGTGGGTCATTTTGACCC	0.612																																						uc002cit.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(796-798)CAT>TAT		STIP1 homology and U-box containing protein 1							82.0	76.0	78.0					16																	732373		2201	4300	6501	SO:0001624	3_prime_UTR_variant	10273				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity	g.chr16:732373C>T		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.*421G>A	16.37:g.732373C>T						STUB1_uc002ciu.2_Missense_Mutation_p.H194Y|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	p.H266Y	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN			7	1207	+		Hepatocellular(780;0.00335)	266			U-box.		B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Missense_Mutation	SNP	ENST00000293882.4	37	c.796C>T		.	.	.	.	.	.	.	.	.	.	C	16.23	3.064645	0.55432	.	.	ENSG00000103266	ENST00000219548	T	0.15487	2.42	5.18	5.18	0.71444	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	T	0.44477	0.1295	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.43130	-0.9410	10	0.72032	D	0.01	-30.4331	17.6797	0.88239	0.0:1.0:0.0:0.0	.	266	Q9UNE7	CHIP_HUMAN	Y	266	ENSP00000219548:H266Y	ENSP00000219548:H266Y	H	+	1	0	STUB1	672374	1.000000	0.71417	0.998000	0.56505	0.178000	0.23041	7.751000	0.85126	2.413000	0.81919	0.561000	0.74099	CAT		0.612	JMJD8-201	KNOWN	basic	protein_coding	protein_coding			NM_001005920		64	73	0	0	0	0.139131	0	64	73		
XYLT1	64131	broad.mit.edu	37	16	17353054	17353054	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:17353054C>G	ENST00000261381.6	-	3	788	c.704G>C	c.(703-705)aGa>aCa	p.R235T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	235					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.R235T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATGAGGCGGTCTGGACACATC	0.612																																						uc002dfa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(703-705)AGA>ACA		xylosyltransferase I							121.0	124.0	123.0					16																	17353054		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17353054C>G	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.704G>C	16.37:g.17353054C>G	ENSP00000261381:p.Arg235Thr						p.R235T	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			3	789	-			235			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.704G>C	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	6.181	0.401617	0.11696	.	.	ENSG00000103489	ENST00000261381	T	0.04317	3.65	5.43	2.39	0.29439	.	0.288830	0.38217	N	0.001767	T	0.03739	0.0106	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.43956	-0.9359	10	0.19147	T	0.46	-5.7777	6.4361	0.21825	0.0:0.6157:0.1244:0.2599	.	235	Q86Y38	XYLT1_HUMAN	T	235	ENSP00000261381:R235T	ENSP00000261381:R235T	R	-	2	0	XYLT1	17260555	0.008000	0.16893	0.001000	0.08648	0.242000	0.25591	0.734000	0.26101	0.669000	0.31146	0.655000	0.94253	AGA		0.612	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2		NM_022166		47	187	0	0	0	0.139131	0	47	187		
TNRC6A	27327	broad.mit.edu	37	16	24815594	24815594	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:24815594A>G	ENST00000395799.3	+	12	3920	c.3791A>G	c.(3790-3792)cAg>cGg	p.Q1264R	TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q1264R|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1264	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q1264R(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTCGGCCTCAGATTTCCAAA	0.393																																						uc002dmm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(3790-3792)CAG>CGG		trinucleotide repeat containing 6A							89.0	83.0	85.0					16																	24815594		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24815594A>G	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3791A>G	16.37:g.24815594A>G	ENSP00000379144:p.Gln1264Arg					TNRC6A_uc010bxs.2_Missense_Mutation_p.Q1011R|TNRC6A_uc002dmn.2_Missense_Mutation_p.Q1011R|TNRC6A_uc002dmo.2_Missense_Mutation_p.Q952R|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_5'Flank	p.Q1264R	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	12	3905	+			1264			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.3791A>G	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733043	0.69189	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12255	2.7;2.7	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	L	0.38175	1.15	0.80722	D	1	D;P	0.61697	0.99;0.919	P;P	0.58721	0.844;0.45	T	0.00382	-1.1775	10	0.41790	T	0.15	-5.3807	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1264;1264	Q8NDV7-6;Q8NDV7	.;TNR6A_HUMAN	R	1264	ENSP00000326900:Q1264R;ENSP00000379144:Q1264R	ENSP00000326900:Q1264R	Q	+	2	0	TNRC6A	24723095	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.352000	0.90075	2.333000	0.79357	0.482000	0.46254	CAG		0.393	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1		NM_020847		40	42	0	0	0	0.09836	0	40	42		
ARHGAP17	55114	broad.mit.edu	37	16	24988548	24988548	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:24988548G>A	ENST00000289968.6	-	3	255	c.186C>T	c.(184-186)gcC>gcT	p.A62A	ARHGAP17_ENST00000441763.2_Silent_p.A62A|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Silent_p.A62A	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	62	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.A62A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GTCTCCTCTCGGCATCGGTGC	0.547																																						uc002dnb.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(184-186)GCC>GCT		nadrin isoform 1							72.0	54.0	60.0					16																	24988548		2197	4300	6497	SO:0001819	synonymous_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24988548G>A	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.186C>T	16.37:g.24988548G>A						ARHGAP17_uc002dnc.2_Silent_p.A62A|ARHGAP17_uc010vcf.1_Intron|ARHGAP17_uc002dng.1_Silent_p.A62A	p.A62A	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	3	279	-			62			BAR.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	c.186C>T	CCDS32409.1																																																																																				0.547	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3		NM_018054		10	53	0	0	0	0.058154	0	10	53		
XPO6	23214	broad.mit.edu	37	16	28137114	28137114	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:28137114C>G	ENST00000304658.5	-	13	2162	c.1662G>C	c.(1660-1662)ctG>ctC	p.L554L	XPO6_ENST00000565698.1_Silent_p.L540L	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	554					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.L554L(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCAAGTCTCTCAGGGAGCAGT	0.592																																						uc002dpa.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(1660-1662)CTG>CTC		exportin 6							77.0	83.0	81.0					16																	28137114		2012	4180	6192	SO:0001819	synonymous_variant	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28137114C>G	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1662G>C	16.37:g.28137114C>G						XPO6_uc002dpb.1_Silent_p.L540L|XPO6_uc010vcp.1_Silent_p.L554L	p.L554L	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN			13	2163	-			554					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	c.1662G>C	CCDS42135.1																																																																																				0.592	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1		XM_055195		46	118	0	0	0	0.139131	0	46	118		
TEPP	374739	broad.mit.edu	37	16	58019836	58019836	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:58019836C>A	ENST00000441824.2	+	7	813	c.776C>A	c.(775-777)tCc>tAc	p.S259Y	TEPP_ENST00000569996.1_3'UTR|TEPP_ENST00000290871.5_Missense_Mutation_p.S286Y	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	259						extracellular region (GO:0005576)		p.S286Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						AGCTTCGGCTCCAGCTACAGG	0.652																																						uc002emw.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(1)|central_nervous_system(1)|skin(1)	3						c.(775-777)TCC>TAC		testis/prostate/placenta-expressed protein							51.0	47.0	48.0					16																	58019836		2198	4300	6498	SO:0001583	missense	374739					extracellular region		g.chr16:58019836C>A	BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.776C>A	16.37:g.58019836C>A	ENSP00000401917:p.Ser259Tyr					TEPP_uc002emv.3_Missense_Mutation_p.S286Y	p.S259Y	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN			7	813	+			259					Q6URK7	Missense_Mutation	SNP	ENST00000441824.2	37	c.776C>A	CCDS45496.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366363	0.41902	.	.	ENSG00000159648	ENST00000290871;ENST00000441824	T;T	0.54071	0.59;0.61	5.57	3.61	0.41365	.	0.331184	0.25968	N	0.027155	T	0.68595	0.3018	M	0.79123	2.44	0.26143	N	0.980242	D;D	0.89917	0.999;1.0	D;D	0.76575	0.98;0.988	T	0.60520	-0.7247	10	0.72032	D	0.01	-2.6834	7.9098	0.29785	0.0:0.7531:0.161:0.0859	.	259;286	Q6URK8;Q6URK8-2	TEPP_HUMAN;.	Y	286;259	ENSP00000290871:S286Y;ENSP00000401917:S259Y	ENSP00000290871:S286Y	S	+	2	0	TEPP	56577337	0.483000	0.25956	0.536000	0.28039	0.103000	0.19146	1.485000	0.35519	0.707000	0.31934	0.549000	0.68633	TCC		0.652	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000431966.1		NM_199456		11	33	1	0	3.27435e-08	0.11911	3.43576e-08	11	33		
ACD	65057	broad.mit.edu	37	16	67691914	67691914	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:67691914C>T	ENST00000393919.4	-	10	1703	c.1439G>A	c.(1438-1440)gGa>gAa	p.G480E	PARD6A_ENST00000219255.3_5'Flank|ACD_ENST00000219251.8_Missense_Mutation_p.G477E|PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000458121.2_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	480					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.G477E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTCCTGGGCTCCCCTGGTAGC	0.607																																						uc002etq.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(1438-1440)GGA>GAA		adrenocortical dysplasia homolog isoform 1							40.0	45.0	44.0					16																	67691914		2196	4298	6494	SO:0001583	missense	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67691914C>T	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.1439G>A	16.37:g.67691914C>T	ENSP00000377496:p.Gly480Glu					ACD_uc002etp.3_Missense_Mutation_p.G477E|ACD_uc002etr.3_Missense_Mutation_p.G477E|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank	p.G480E	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	10	1776	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	480					Q562H5|Q9H8F9	Missense_Mutation	SNP	ENST00000393919.4	37	c.1439G>A	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302036	0.23736	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.29142	1.58;1.58	4.08	0.915	0.19366	.	1.226650	0.05898	N	0.629578	T	0.18002	0.0432	N	0.24115	0.695	0.09310	N	1	B;B	0.13594	0.005;0.008	B;B	0.14023	0.004;0.01	T	0.26950	-1.0088	10	0.09338	T	0.73	0.3416	5.6893	0.17821	0.0:0.6287:0.0:0.3713	.	480;477	Q96AP0;Q96AP0-2	ACD_HUMAN;.	E	477;480	ENSP00000219251:G477E;ENSP00000377496:G480E	ENSP00000219251:G477E	G	-	2	0	ACD	66249415	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.734000	0.04893	0.440000	0.26502	0.563000	0.77884	GGA		0.607	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1		NM_022914		25	85	0	0	0	0.108266	0	25	85		
CIRH1A	84916	broad.mit.edu	37	16	69199280	69199280	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:69199280G>C	ENST00000314423.7	+	15	1861	c.1684G>C	c.(1684-1686)Gat>Cat	p.D562H	CIRH1A_ENST00000352319.4_Missense_Mutation_p.D447H|CIRH1A_ENST00000563094.1_Missense_Mutation_p.D562H			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	562					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.D562H(1)|p.D562Y(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ACAGTATACAGATTGGAGCCG	0.488																																					Melanoma(69;1156 1278 4951 8715 52012)	uc002ews.3		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)		0						c.(1684-1686)GAT>CAT		cirhin							116.0	104.0	108.0					16																	69199280		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69199280G>C	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1684G>C	16.37:g.69199280G>C	ENSP00000327179:p.Asp562His					CIRH1A_uc002ewr.2_Missense_Mutation_p.D562H|CIRH1A_uc002ewt.3_Missense_Mutation_p.D479H|CIRH1A_uc010cfi.2_Missense_Mutation_p.D364H	p.D562H	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	15	1780	+			562			WD 11.		Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1684G>C	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074701	0.55646	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.29142	1.58;2.37	6.17	5.22	0.72569	Quinonprotein alcohol dehydrogenase-like (1);	0.317497	0.36815	N	0.002396	T	0.32496	0.0831	L	0.40543	1.245	0.34994	D	0.755328	B;B	0.26876	0.162;0.141	B;B	0.34590	0.058;0.186	T	0.44267	-0.9339	10	0.54805	T	0.06	.	15.6128	0.76740	0.0:0.2598:0.7402:0.0	.	562;562	Q969X6;Q969X6-3	CIR1A_HUMAN;.	H	562;447	ENSP00000327179:D562H;ENSP00000339164:D447H	ENSP00000327179:D562H	D	+	1	0	CIRH1A	67756781	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.684000	0.54671	1.623000	0.50342	0.655000	0.94253	GAT		0.488	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2		NM_032830		11	52	0	0	0	0.069234	0	11	52		
SPAG7	9552	broad.mit.edu	37	17	4863785	4863785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:4863785G>A	ENST00000206020.3	-	3	278	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	SPAG7_ENST00000573366.1_Nonsense_Mutation_p.Q20*|SPAG7_ENST00000575142.1_Nonsense_Mutation_p.Q60*	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	71	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.Q71*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TTCATTGGCTGAAACTTTTTC	0.532																																						uc002gae.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(211-213)CAG>TAG		sperm associated antigen 7							189.0	172.0	178.0					17																	4863785		1951	4160	6111	SO:0001587	stop_gained	9552					nucleus	nucleic acid binding|protein binding	g.chr17:4863785G>A	AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.211C>T	17.37:g.4863785G>A	ENSP00000206020:p.Gln71*					SPAG7_uc002gad.2_Nonsense_Mutation_p.Q20*|SPAG7_uc002gaf.2_Nonsense_Mutation_p.Q71*	p.Q71*	NM_004890	NP_004881	O75391	SPAG7_HUMAN			3	244	-			71			R3H.		Q96EU5	Nonsense_Mutation	SNP	ENST00000206020.3	37	c.211C>T	CCDS42240.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193505	0.78902	.	.	ENSG00000091640	ENST00000206020	.	.	.	5.23	5.23	0.72850	.	0.236715	0.42294	D	0.000724	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-9.1121	14.1767	0.65546	0.0:0.0:1.0:0.0	.	.	.	.	X	71	.	ENSP00000206020:Q71X	Q	-	1	0	SPAG7	4804508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.444000	0.44890	2.723000	0.93209	0.650000	0.86243	CAG		0.532	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1		NM_004890		59	67	0	0	0	0.139131	0	59	67		
USP43	124739	broad.mit.edu	37	17	9559744	9559744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:9559744C>T	ENST00000285199.7	+	2	625	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Nonsense_Mutation_p.Q177*	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	177	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.Q178*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTACGGCTCTCAGTTCCAAGG	0.522																																						uc010cod.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(529-531)CAG>TAG		ubiquitin specific protease 43							92.0	87.0	88.0					17																	9559744		1879	4112	5991	SO:0001587	stop_gained	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9559744C>T	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.529C>T	17.37:g.9559744C>T	ENSP00000285199:p.Gln177*					USP43_uc002gma.3_5'UTR|USP43_uc010vva.1_Nonsense_Mutation_p.Q177*|USP43_uc010coe.2_Silent_p.L8L	p.Q177*	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN			2	529	+			177					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Nonsense_Mutation	SNP	ENST00000285199.7	37	c.529C>T	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	C	40	8.082531	0.98646	.	.	ENSG00000154914	ENST00000285199	.	.	.	4.04	4.04	0.47022	.	0.144341	0.47093	D	0.000253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.4299	14.507	0.67761	0.0:1.0:0.0:0.0	.	.	.	.	X	177	.	ENSP00000285199:Q177X	Q	+	1	0	USP43	9500469	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.465000	0.73538	2.548000	0.85928	0.585000	0.79938	CAG		0.522	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3		NM_153210		3	15	0	0	0	0.115264	0	3	15		
MYH1	4619	broad.mit.edu	37	17	10400658	10400658	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:10400658C>G	ENST00000226207.5	-	32	4571	c.4477G>C	c.(4477-4479)Gag>Cag	p.E1493Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1493					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1493Q(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AAAGATTCCTCATAAGCATTC	0.343																																						uc002gmo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4477-4479)GAG>CAG		myosin, heavy chain 1, skeletal muscle, adult							80.0	80.0	80.0					17																	10400658		2203	4299	6502	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10400658C>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4477G>C	17.37:g.10400658C>G	ENSP00000226207:p.Glu1493Gln					uc002gml.1_Intron	p.E1493Q	NM_005963	NP_005954	P12882	MYH1_HUMAN			32	4571	-			1493			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4477G>C	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543143	0.86022	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.80909	-1.43	5.76	5.76	0.90799	Myosin tail (1);	0.000000	0.43579	U	0.000542	D	0.94069	0.8099	H	0.98005	4.125	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.95497	0.8574	10	0.87932	D	0	.	20.3316	0.98722	0.0:1.0:0.0:0.0	.	1493	P12882	MYH1_HUMAN	Q	1493;582	ENSP00000226207:E1493Q	ENSP00000226207:E1493Q	E	-	1	0	MYH1	10341383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.871000	0.98454	0.655000	0.94253	GAG		0.343	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1		NM_005963		19	64	0	0	0	0.062417	0	19	64		
MYH1	4619	broad.mit.edu	37	17	10400727	10400727	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:10400727C>G	ENST00000226207.5	-	32	4502	c.4408G>C	c.(4408-4410)Gaa>Caa	p.E1470Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1470				E -> V (in Ref. 4; CAA27380). {ECO:0000305}.	muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1470Q(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCTTCAAGTTCAGCATGAGTT	0.378																																						uc002gmo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4408-4410)GAA>CAA		myosin, heavy chain 1, skeletal muscle, adult							76.0	73.0	74.0					17																	10400727		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10400727C>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4408G>C	17.37:g.10400727C>G	ENSP00000226207:p.Glu1470Gln					uc002gml.1_Intron	p.E1470Q	NM_005963	NP_005954	P12882	MYH1_HUMAN			32	4502	-			1470	E -> V (in Ref. 4; CAA27380).		Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4408G>C	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628736	0.87560	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.84589	-1.87	5.76	5.76	0.90799	Myosin tail (1);	0.000000	0.43919	U	0.000511	D	0.95341	0.8488	H	0.96333	3.805	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.95995	0.8989	10	0.87932	D	0	.	20.3316	0.98722	0.0:1.0:0.0:0.0	.	1470	P12882	MYH1_HUMAN	Q	1470;559	ENSP00000226207:E1470Q	ENSP00000226207:E1470Q	E	-	1	0	MYH1	10341452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.871000	0.98454	0.655000	0.94253	GAA		0.378	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1		NM_005963		10	48	0	0	0	0.080935	0	10	48		
PHF12	57649	broad.mit.edu	37	17	27254016	27254016	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:27254016C>G	ENST00000332830.4	-	3	1124	c.314G>C	c.(313-315)cGc>cCc	p.R105P	PHF12_ENST00000577226.1_Missense_Mutation_p.R105P|RP11-20B24.5_ENST00000580782.1_RNA|PHF12_ENST00000268756.3_Missense_Mutation_p.R105P|PHF12_ENST00000582655.1_5'Flank|RP11-20B24.5_ENST00000592890.1_RNA|RP11-20B24.5_ENST00000582631.1_RNA	NM_001033561.1	NP_001028733.1			PHD finger protein 12									p.R105P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TACCTTTCGGCGAACAGTGCA	0.493																																						uc002hdg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(313-315)CGC>CCC		PHD finger protein 12 isoform 1							126.0	107.0	113.0					17																	27254016		2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27254016C>G	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.314G>C	17.37:g.27254016C>G	ENSP00000329933:p.Arg105Pro					PHF12_uc010wbb.1_Missense_Mutation_p.R87P|PHF12_uc002hdi.1_Missense_Mutation_p.R101P|PHF12_uc002hdj.1_Missense_Mutation_p.R105P|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdk.1_Missense_Mutation_p.R101P|uc002hdl.2_Intron|PHF12_uc002hdh.1_5'Flank	p.R105P	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		3	844	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		105			PHD-type 1.|Interaction with SIN3A.			Missense_Mutation	SNP	ENST00000332830.4	37	c.314G>C	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.453245	0.84209	.	.	ENSG00000109118	ENST00000332830;ENST00000268756	D;D	0.87729	-2.29;-2.29	5.46	5.46	0.80206	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.056627	0.64402	D	0.000001	D	0.92087	0.7492	L	0.58583	1.82	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.979;0.985;0.999	D	0.90987	0.4832	10	0.38643	T	0.18	-9.1381	17.8792	0.88835	0.0:1.0:0.0:0.0	.	87;105;105;105;105	B4DFE2;A8K5V5;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;.;PHF12_HUMAN	P	105	ENSP00000329933:R105P;ENSP00000268756:R105P	ENSP00000268756:R105P	R	-	2	0	PHF12	24278142	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.067000	0.71193	2.559000	0.86315	0.655000	0.94253	CGC		0.493	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1		NM_020889		8	77	0	0	0	0.038147	0	8	77		
WNK4	65266	broad.mit.edu	37	17	40936120	40936120	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:40936120C>T	ENST00000246914.5	+	3	978	c.957C>T	c.(955-957)atC>atT	p.I319I		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	319	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.I319I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGTCAAAATCGGGGACCTGG	0.597																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(3)|stomach(1)	7						c.(955-957)ATC>ATT		WNK lysine deficient protein kinase 4							137.0	136.0	136.0					17																	40936120		2203	4300	6503	SO:0001819	synonymous_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40936120C>T	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.957C>T	17.37:g.40936120C>T						WNK4_uc010wgx.1_Missense_Mutation_p.S13L|WNK4_uc002ibk.1_Silent_p.I91I|WNK4_uc010wgy.1_5'Flank	p.I319I	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	3	978	+		Breast(137;0.000143)	319			Protein kinase.		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	c.957C>T	CCDS11439.1																																																																																				0.597	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1				64	202	0	0	0	0.139131	0	64	202		
CA10	56934	broad.mit.edu	37	17	49713340	49713340	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:49713340A>G	ENST00000285273.4	-	8	1776	c.665T>C	c.(664-666)aTa>aCa	p.I222T	CA10_ENST00000451037.2_Missense_Mutation_p.I222T|CA10_ENST00000340813.6_Missense_Mutation_p.I228T|CA10_ENST00000570565.1_Missense_Mutation_p.I147T|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.I222T	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	222					brain development (GO:0007420)			p.I222T(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TAGTTCCTCTATATTAAGCCC	0.383																																						uc002itw.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(664-666)ATA>ACA		carbonic anhydrase X							109.0	105.0	106.0					17																	49713340		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:49713340A>G	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.665T>C	17.37:g.49713340A>G	ENSP00000285273:p.Ile222Thr					CA10_uc002itu.3_Missense_Mutation_p.I151T|CA10_uc002itv.3_Missense_Mutation_p.I228T|CA10_uc002itx.3_Missense_Mutation_p.I222T|CA10_uc002ity.3_Missense_Mutation_p.I222T|CA10_uc002itz.2_Missense_Mutation_p.I222T	p.I222T	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		7	1651	-			222					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.665T>C	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.003015	0.74932	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	6.16	5.08	0.68730	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	L	0.58583	1.82	0.58432	D	0.999998	P;B;B	0.36483	0.555;0.412;0.364	B;B;B	0.34722	0.114;0.114;0.188	T	0.60900	-0.7171	10	0.27785	T	0.31	.	11.7442	0.51811	0.9316:0.0:0.0684:0.0	.	222;228;147	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	T	222;222;222;228	ENSP00000390666:I222T;ENSP00000285273:I222T;ENSP00000405388:I222T;ENSP00000340363:I228T	ENSP00000285273:I222T	I	-	2	0	CA10	47068339	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.157000	0.94714	1.141000	0.42275	0.528000	0.53228	ATA		0.383	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1		NM_020178		29	82	0	0	0	0.045705	0	29	82		
HELZ	9931	broad.mit.edu	37	17	65119237	65119237	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:65119237C>G	ENST00000358691.5	-	26	3645	c.3479G>C	c.(3478-3480)aGa>aCa	p.R1160T	HELZ_ENST00000580168.1_Missense_Mutation_p.R1161T	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1160						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1160T(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGTATATGCTCTAATAGGATT	0.408																																						uc010wqk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(3481-3483)AGA>ACA		helicase with zinc finger domain							73.0	72.0	72.0					17																	65119237		1862	4093	5955	SO:0001583	missense	9931							g.chr17:65119237C>G	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3479G>C	17.37:g.65119237C>G	ENSP00000351524:p.Arg1160Thr					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.R1160T	p.R1161T	NM_014877	NP_055692					26	3669	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.3482G>C	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471884	0.43942	.	.	ENSG00000198265	ENST00000358691	D	0.83992	-1.79	5.64	5.64	0.86602	.	0.047795	0.85682	D	0.000000	D	0.84674	0.5524	L	0.40543	1.245	0.52099	D	0.99994	D;D	0.57257	0.979;0.979	P;P	0.52554	0.702;0.702	D	0.84162	0.0429	10	0.46703	T	0.11	-14.8165	20.0723	0.97728	0.0:1.0:0.0:0.0	.	1161;1160	B7ZLW2;P42694	.;HELZ_HUMAN	T	1160	ENSP00000351524:R1160T	ENSP00000351524:R1160T	R	-	2	0	HELZ	62549699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.289000	0.65656	2.819000	0.97034	0.650000	0.86243	AGA		0.408	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1		NM_014877		18	45	0	0	0	0.038395	0	18	45		
PSMD12	5718	broad.mit.edu	37	17	65340841	65340841	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:65340841C>A	ENST00000356126.3	-	9	1071	c.964G>T	c.(964-966)Gag>Tag	p.E322*	PSMD12_ENST00000357146.4_Nonsense_Mutation_p.E302*	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	322	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.E322*(1)		breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					CCATAGTCCTCAACAAGTGTG	0.363																																						uc002jfy.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(964-966)GAG>TAG		proteasome 26S non-ATPase subunit 12 isoform 1							77.0	74.0	75.0					17																	65340841		2203	4300	6503	SO:0001587	stop_gained	5718				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr17:65340841C>A	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.964G>T	17.37:g.65340841C>A	ENSP00000348442:p.Glu322*					PSMD12_uc002jga.2_Nonsense_Mutation_p.E302*|PSMD12_uc002jfz.2_Nonsense_Mutation_p.E263*	p.E322*	NM_002816	NP_002807	O00232	PSD12_HUMAN			9	1050	-	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)		322			PCI.		A6NP15|Q53HA2|Q6P053	Nonsense_Mutation	SNP	ENST00000356126.3	37	c.964G>T	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	C	37	6.510118	0.97624	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	.	.	.	5.72	5.72	0.89469	.	0.087086	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-17.4644	19.8823	0.96903	0.0:1.0:0.0:0.0	.	.	.	.	X	322;302	.	ENSP00000348442:E322X	E	-	1	0	PSMD12	62771303	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.394000	0.79862	2.693000	0.91896	0.585000	0.79938	GAG		0.363	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1		NM_002816, NM_174871		13	61	1	0	4.7546e-09	0.146539	5.02437e-09	13	61		
ABCA8	10351	broad.mit.edu	37	17	66933153	66933153	+	Silent	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:66933153A>G	ENST00000269080.2	-	4	542	c.405T>C	c.(403-405)taT>taC	p.Y135Y	ABCA8_ENST00000586539.1_Silent_p.Y135Y|ABCA8_ENST00000430352.2_Silent_p.Y135Y	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	135					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Y135Y(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACTTCAAATGATATGAGTATG	0.368																																						uc002jhp.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(403-405)TAT>TAC		ATP-binding cassette, sub-family A member 8							136.0	123.0	128.0					17																	66933153		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66933153A>G	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.405T>C	17.37:g.66933153A>G						ABCA8_uc002jhq.2_Silent_p.Y135Y|ABCA8_uc010wqq.1_Silent_p.Y135Y|ABCA8_uc010wqr.1_Silent_p.Y74Y|ABCA8_uc002jhr.2_Silent_p.Y135Y|ABCA8_uc002jhs.2_Silent_p.Y135Y|ABCA8_uc002jht.2_Silent_p.Y135Y	p.Y135Y	NM_007168	NP_009099	O94911	ABCA8_HUMAN			4	584	-	Breast(10;4.56e-13)		135					A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.405T>C	CCDS11680.1																																																																																				0.368	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1		NM_007168		25	55	0	0	0	0.0918	0	25	55		
COG1	9382	broad.mit.edu	37	17	71197988	71197988	+	Silent	SNP	C	C	T	rs398124346|rs552694959		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:71197988C>T	ENST00000299886.4	+	7	2102	c.2022C>T	c.(2020-2022)ctC>ctT	p.L674L		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	674					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.L674L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			AAGAAGTACTCCTCCAGCAGA	0.463																																						uc002jjg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(2020-2022)CTC>CTT		component of oligomeric golgi complex 1							52.0	50.0	51.0					17																	71197988		2203	4300	6503	SO:0001819	synonymous_variant	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71197988C>T		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.2022C>T	17.37:g.71197988C>T						COG1_uc002jjh.2_Silent_p.L674L|COG1_uc002jjf.1_Silent_p.L674L	p.L674L	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		7	2058	+			674					Q9NPV9|Q9P2G6	Silent	SNP	ENST00000299886.4	37	c.2022C>T	CCDS11692.1																																																																																				0.463	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1				16	53	0	0	0	0.0333	0	16	53		
DSG2	1829	broad.mit.edu	37	18	29101087	29101087	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr18:29101087G>A	ENST00000261590.8	+	5	613	c.404G>A	c.(403-405)aGa>aAa	p.R135K	DSG2_ENST00000585206.1_Missense_Mutation_p.R135K	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	135	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R135K(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TTGGATGCAAGAGGAAACAAT	0.343																																						uc002kwu.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(403-405)AGA>AAA		desmoglein 2 preproprotein							100.0	93.0	95.0					18																	29101087		1862	4109	5971	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29101087G>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.404G>A	18.37:g.29101087G>A	ENSP00000261590:p.Arg135Lys						p.R135K	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		5	592	+			135			Extracellular (Potential).|Cadherin 1.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.404G>A	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	7.118	0.577422	0.13686	.	.	ENSG00000046604	ENST00000261590	T	0.60548	0.18	5.72	-7.71	0.01254	Cadherin (3);Cadherin-like (1);	0.440276	0.16926	N	0.193878	T	0.29850	0.0746	N	0.16201	0.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22836	-1.0205	10	0.15066	T	0.55	.	12.2472	0.54576	0.4036:0.09:0.5064:0.0	.	135	Q14126	DSG2_HUMAN	K	135	ENSP00000261590:R135K	ENSP00000261590:R135K	R	+	2	0	DSG2	27355085	0.000000	0.05858	0.005000	0.12908	0.014000	0.08584	-1.348000	0.02629	-1.445000	0.01948	-0.291000	0.09656	AGA		0.343	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1		NM_001943		23	67	0	0	0	0.076483	0	23	67		
SETBP1	26040	broad.mit.edu	37	18	42530401	42530401	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr18:42530401G>A	ENST00000282030.5	+	4	1392	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	366						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E366K(2)|p.E312K(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGACAATACAGAAGGGAAAAG	0.453									Schinzel-Giedion syndrome																													uc010dni.2		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|prostate(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(1096-1098)GAA>AAA		SET binding protein 1 isoform a							66.0	66.0	66.0					18																	42530401		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530401G>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1096G>A	18.37:g.42530401G>A	ENSP00000282030:p.Glu366Lys						p.E366K	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1392	+			366					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1096G>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943478	0.73672	.	.	ENSG00000152217	ENST00000282030	T	0.35789	1.29	5.78	5.78	0.91487	.	0.051457	0.85682	D	0.000000	T	0.32102	0.0818	L	0.29908	0.895	0.39722	D	0.971481	B	0.15930	0.015	B	0.24269	0.052	T	0.08827	-1.0703	10	0.20046	T	0.44	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	366	Q9Y6X0	SETBP_HUMAN	K	366	ENSP00000282030:E366K	ENSP00000282030:E366K	E	+	1	0	SETBP1	40784399	1.000000	0.71417	0.998000	0.56505	0.689000	0.40095	5.871000	0.69628	2.894000	0.99253	0.655000	0.94253	GAA		0.453	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4		NM_001130110		20	54	0	0	0	0.055883	0	20	54		
MALT1	10892	broad.mit.edu	37	18	56390314	56390314	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr18:56390314G>T	ENST00000348428.3	+	10	1311	c.1053G>T	c.(1051-1053)atG>atT	p.M351I	MALT1_ENST00000345724.3_Missense_Mutation_p.M340I|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	351	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)	p.M351I(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TAGGAAATATGAATTACCGGG	0.398			T	BIRC3	MALT																																	uc002lhm.1		NaN		Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1051-1053)ATG>ATT		mucosa associated lymphoid tissue lymphoma							101.0	98.0	99.0					18																	56390314		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56390314G>T		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1053G>T	18.37:g.56390314G>T	ENSP00000319279:p.Met351Ile					MALT1_uc002lhn.1_Missense_Mutation_p.M340I	p.M351I	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN			10	1311	+			351			Caspase-like.		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.1053G>T	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410276	0.83340	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.20463	2.07;2.07	5.7	5.7	0.88788	Peptidase C14, caspase catalytic (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.039620	0.85682	D	0.000000	T	0.43211	0.1237	L	0.57536	1.79	0.45477	D	0.998447	D;D	0.62365	0.989;0.991	P;D	0.64042	0.87;0.921	T	0.05468	-1.0883	10	0.42905	T	0.14	.	19.434	0.94783	0.0:0.0:1.0:0.0	.	340;351	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	I	351;340	ENSP00000319279:M351I;ENSP00000304161:M340I	ENSP00000304161:M340I	M	+	3	0	MALT1	54541294	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.454000	0.80714	2.703000	0.92315	0.655000	0.94253	ATG		0.398	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2				19	63	1	0	3.62473e-10	0.062417	3.84402e-10	19	63		
MUM1	84939	broad.mit.edu	37	19	1357029	1357029	+	Missense_Mutation	SNP	T	T	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:1357029T>G	ENST00000415183.3	+	2	108	c.82T>G	c.(82-84)Tca>Gca	p.S28A	MUM1_ENST00000344663.3_Missense_Mutation_p.S28A|MUM1_ENST00000591806.1_Missense_Mutation_p.S28A|MUM1_ENST00000311401.5_5'UTR			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	27					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)	p.S28A(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACCGCGACTTCAACAAAAAA	0.358																																						uc010xgm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(79-81)TCA>GCA		SubName: Full=MUM1 protein;							128.0	125.0	126.0					19																	1357029		2203	4300	6503	SO:0001583	missense	84939				chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	g.chr19:1357029T>G	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.82T>G	19.37:g.1357029T>G	ENSP00000394925:p.Ser28Ala					MUM1_uc010dsi.2_5'UTR|MUM1_uc002lrz.2_Missense_Mutation_p.S28A|MUM1_uc002lsb.2_5'UTR|MUM1_uc002lsc.1_5'Flank	p.S27A			Q2TAK8	MUM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	148	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	27					A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37	c.79T>G		.	.	.	.	.	.	.	.	.	.	T	12.61	1.989592	0.35131	.	.	ENSG00000160953	ENST00000344663;ENST00000356765;ENST00000415183	T;T	0.32515	1.45;1.45	5.2	1.81	0.25067	.	0.802333	0.10580	N	0.658057	T	0.44498	0.1296	M	0.71206	2.165	0.21386	N	0.999704	B;D	0.67145	0.096;0.996	B;P	0.57468	0.021;0.821	T	0.24154	-1.0168	10	0.59425	D	0.04	.	5.6122	0.17412	0.0:0.0891:0.334:0.5769	.	28;27	B7ZLY8;Q2TAK8	.;MUM1_HUMAN	A	28;54;28	ENSP00000345789:S28A;ENSP00000394925:S28A	ENSP00000345789:S28A	S	+	1	0	MUM1	1308029	0.040000	0.19996	0.074000	0.20217	0.330000	0.28571	0.749000	0.26320	0.038000	0.15604	0.533000	0.62120	TCA		0.358	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1		NM_032853		21	44	0	0	0	0.062417	0	21	44		
AP3D1	8943	broad.mit.edu	37	19	2130435	2130435	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:2130435C>T	ENST00000345016.5	-	6	795	c.564G>A	c.(562-564)ctG>ctA	p.L188L	AP3D1_ENST00000355272.6_Silent_p.L188L|AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000350812.6_Intron	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	188					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.L188L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCTCCTTCAGCCGGGGAA	0.602																																						uc002luz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(562-564)CTG>CTA		adaptor-related protein complex 3, delta 1							81.0	91.0	88.0					19																	2130435		2018	4170	6188	SO:0001819	synonymous_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2130435C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.564G>A	19.37:g.2130435C>T						AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Silent_p.L188L	p.L188L	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	787	-		Hepatocellular(1079;0.137)	188			HEAT 4.		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.564G>A	CCDS42459.1																																																																																				0.602	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1				32	75	0	0	0	0.144211	0	32	75		
DOT1L	84444	broad.mit.edu	37	19	2216303	2216303	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:2216303G>A	ENST00000398665.3	+	20	1983	c.1947G>A	c.(1945-1947)aaG>aaA	p.K649K	DOT1L_ENST00000608122.1_3'UTR|AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	649					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.K649K(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTAGAGAAGAGCCAGCGGC	0.662																																						uc002lvb.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(1945-1947)AAG>AAA		DOT1-like, histone H3 methyltransferase							37.0	42.0	41.0					19																	2216303		2006	4141	6147	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216303G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1947G>A	19.37:g.2216303G>A						DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_5'UTR	p.K649K	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	1983	+		Hepatocellular(1079;0.137)	649					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.1947G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412283	0.25465	.	.	ENSG00000104885	ENST00000440640	.	.	.	5.13	4.08	0.47627	.	.	.	.	.	T	0.61763	0.2373	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59456	-0.7451	4	.	.	.	-32.4812	11.5072	0.50474	0.1475:0.0:0.8525:0.0	.	.	.	.	K	436	.	.	R	+	2	0	DOT1L	2167303	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.017000	0.40981	2.379000	0.81126	0.655000	0.94253	AGA		0.662	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		32	69	0	0	0	0.064281	0	32	69		
DOT1L	84444	broad.mit.edu	37	19	2216319	2216319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:2216319G>T	ENST00000398665.3	+	20	1999	c.1963G>T	c.(1963-1965)Gag>Tag	p.E655*	DOT1L_ENST00000608122.1_3'UTR|AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	655					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.E655*(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCAGCAGGAGCTCCTGCA	0.672																																						uc002lvb.3		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(1963-1965)GAG>TAG		DOT1-like, histone H3 methyltransferase							31.0	36.0	35.0					19																	2216319		2022	4146	6168	SO:0001587	stop_gained	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216319G>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1963G>T	19.37:g.2216319G>T	ENSP00000381657:p.Glu655*					DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_5'UTR	p.E655*	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	1999	+		Hepatocellular(1079;0.137)	655					O60379|Q96JL1	Nonsense_Mutation	SNP	ENST00000398665.3	37	c.1963G>T	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.309575|8.309575	0.98754|0.98754	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000398665;ENST00000221482|ENST00000440640	.|.	.|.	.|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.73799	.|0.3633	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74054	.|-0.3788	.|3	0.87932|.	D|.	0|.	-39.2647|-39.2647	17.5782|17.5782	0.87957|0.87957	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|S	655|441	.|.	ENSP00000221482:E655X|.	E|R	+|+	1|3	0|2	DOT1L|DOT1L	2167319|2167319	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.111000|9.111000	0.94308|0.94308	2.379000|2.379000	0.81126|0.81126	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.672	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		23	52	1	0	1.64293e-13	0.083992	1.74855e-13	23	52		
JSRP1	126306	broad.mit.edu	37	19	2254207	2254207	+	Missense_Mutation	SNP	C	C	G	rs368763412		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:2254207C>G	ENST00000300961.6	-	4	305	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	JSRP1_ENST00000586471.2_Missense_Mutation_p.E81Q	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	81					protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)		p.E81Q(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCAGCCTCTCCTTCCCCGTT	0.637											OREG0025137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lvi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(241-243)GAG>CAG		junctional sarcoplasmic reticulum protein 1							132.0	131.0	131.0					19																	2254207		2203	4300	6503	SO:0001583	missense	126306					sarcoplasmic reticulum membrane		g.chr19:2254207C>G	AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"""homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"""	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.241G>C	19.37:g.2254207C>G	ENSP00000300961:p.Glu81Gln		OREG0025137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	602	JSRP1_uc002lvj.1_Missense_Mutation_p.E81Q	p.E81Q	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	276	-			81						Missense_Mutation	SNP	ENST00000300961.6	37	c.241G>C	CCDS12086.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230656	0.58777	.	.	ENSG00000167476	ENST00000300961	T	0.25912	1.77	3.54	3.54	0.40534	.	0.472153	0.15694	N	0.249252	T	0.32133	0.0819	N	0.24115	0.695	0.25168	N	0.990301	D	0.71674	0.998	D	0.63703	0.917	T	0.06180	-1.0841	10	0.51188	T	0.08	.	11.3093	0.49353	0.0:1.0:0.0:0.0	.	81	Q96MG2	JSPR1_HUMAN	Q	81	ENSP00000300961:E81Q	ENSP00000300961:E81Q	E	-	1	0	JSRP1	2205207	0.000000	0.05858	0.787000	0.31911	0.471000	0.32888	0.377000	0.20552	1.912000	0.55364	0.555000	0.69702	GAG		0.637	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451266.2		NM_144616		63	167	0	0	0	0.139131	0	63	167		
DPP9	91039	broad.mit.edu	37	19	4690967	4690967	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:4690967C>G	ENST00000598800.1	-	15	1937	c.1432G>C	c.(1432-1434)Gaa>Caa	p.E478Q	DPP9_ENST00000262960.9_Missense_Mutation_p.E507Q|DPP9_ENST00000594671.1_Missense_Mutation_p.E478Q			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	478						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)	p.E586Q(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CACTTAAATTCATCTGGAAAG	0.562																																						uc002mba.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1519-1521)GAA>CAA		dipeptidylpeptidase 9							45.0	46.0	46.0					19																	4690967		1930	4134	6064	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4690967C>G	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1432G>C	19.37:g.4690967C>G	ENSP00000469603:p.Glu478Gln						p.E507Q	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	14	1777	-		Hepatocellular(1079;0.137)	478					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.1519G>C		.	.	.	.	.	.	.	.	.	.	C	15.11	2.736048	0.49045	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.28666	1.6	4.39	4.39	0.52855	.	0.173292	0.49916	D	0.000140	T	0.28034	0.0691	L	0.38175	1.15	0.39048	D	0.960262	B	0.29671	0.254	B	0.37480	0.251	T	0.08764	-1.0706	10	0.15952	T	0.53	-16.9315	14.3501	0.66694	0.0:1.0:0.0:0.0	.	507	Q1ZZB8	.	Q	586;448;507	ENSP00000262960:E507Q	ENSP00000262960:E507Q	E	-	1	0	DPP9	4641967	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.552000	0.67281	2.294000	0.77228	0.555000	0.69702	GAA		0.562	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2				4	13	0	0	0	0.009096	0	4	13		
SAFB2	9667	broad.mit.edu	37	19	5591776	5591776	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:5591776C>G	ENST00000252542.4	-	17	2641	c.2377G>C	c.(2377-2379)Gac>Cac	p.D793H		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	793	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D793H(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCCCGGTGGTCTCCCATCATT	0.592																																					Ovarian(127;888 1728 23957 44128 52668)	uc002mcd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2377-2379)GAC>CAC		scaffold attachment factor B2							90.0	71.0	78.0					19																	5591776		2203	4300	6503	SO:0001583	missense	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5591776C>G	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2377G>C	19.37:g.5591776C>G	ENSP00000252542:p.Asp793His						p.D793H	NM_014649	NP_055464	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	17	2589	-			793			Interacts with SAFB1.|Gly-rich.		B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	c.2377G>C	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.434018	0.25813	.	.	ENSG00000130254	ENST00000252542	T	0.09817	2.94	3.99	3.99	0.46301	.	0.341140	0.21098	N	0.080212	T	0.15392	0.0371	L	0.27053	0.805	0.29494	N	0.855416	D	0.55605	0.972	P	0.59643	0.861	T	0.04767	-1.0928	10	0.18710	T	0.47	-14.5779	12.8318	0.57750	0.0:1.0:0.0:0.0	.	793	Q14151	SAFB2_HUMAN	H	793	ENSP00000252542:D793H	ENSP00000252542:D793H	D	-	1	0	SAFB2	5542776	1.000000	0.71417	0.992000	0.48379	0.307000	0.27823	4.760000	0.62235	1.779000	0.52309	0.313000	0.20887	GAC		0.592	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1		NM_014649		11	46	0	0	0	0.105934	0	11	46		
MYO1F	4542	broad.mit.edu	37	19	8587680	8587680	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:8587680C>G	ENST00000338257.8	-	26	3155	c.2888G>C	c.(2887-2889)aGa>aCa	p.R963T		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	963				VPPSARGGPL -> APLCPQGGAPC (in Ref. 5; CAA67058). {ECO:0000305}.	defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R963T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGGCCCCCTCTGGCAGAGGG	0.652																																						uc002mkg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(2887-2889)AGA>ACA		myosin IF							7.0	8.0	8.0					19																	8587680		1817	4007	5824	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8587680C>G	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2888G>C	19.37:g.8587680C>G	ENSP00000344871:p.Arg963Thr						p.R963T	NM_012335	NP_036467	O00160	MYO1F_HUMAN			26	3002	-			963	VPPSARGGPL -> APLCPQGGAPC (in Ref. 5; CAA67058).				Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.2888G>C	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	5.753	0.323282	0.10900	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.86865	-2.18	5.27	4.23	0.50019	.	0.533866	0.16058	N	0.231618	D	0.82820	0.5120	M	0.66939	2.045	0.09310	N	1	B	0.20052	0.041	B	0.20384	0.029	T	0.66685	-0.5861	10	0.14252	T	0.57	.	7.3786	0.26843	0.0:0.6252:0.2821:0.0927	.	963	O00160	MYO1F_HUMAN	T	1008;963	ENSP00000344871:R963T	ENSP00000304899:R1008T	R	-	2	0	MYO1F	8493680	0.239000	0.23836	0.983000	0.44433	0.827000	0.46813	0.640000	0.24705	1.198000	0.43158	0.455000	0.32223	AGA		0.652	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2				4	8	0	0	0	0.009096	0	4	8		
ADAMTS10	81794	broad.mit.edu	37	19	8670203	8670203	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:8670203G>T	ENST00000597188.1	-	4	399	c.129C>A	c.(127-129)ttC>ttA	p.F43L	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.F43L|ADAMTS10_ENST00000596709.1_5'UTR	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	43						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F43L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CGCGGGTGGGGAAGGCGATCT	0.677																																						uc002mkj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(2)|skin(2)	4						c.(127-129)TTC>TTA		ADAM metallopeptidase with thrombospondin type 1							24.0	19.0	21.0					19																	8670203		2201	4300	6501	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8670203G>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.129C>A	19.37:g.8670203G>T	ENSP00000471851:p.Phe43Leu					ADAMTS10_uc002mkk.1_5'UTR	p.F43L	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			4	403	-			43					M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.129C>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581727	0.46006	.	.	ENSG00000142303	ENST00000270328	T	0.05382	3.45	5.38	5.38	0.77491	Peptidase M12B, propeptide (1);	0.132290	0.51477	D	0.000087	T	0.07188	0.0182	L	0.34521	1.04	0.58432	D	0.999998	B	0.26318	0.146	B	0.29077	0.098	T	0.38887	-0.9640	10	0.13470	T	0.59	.	18.1179	0.89561	0.0:0.0:1.0:0.0	.	43	Q9H324	ATS10_HUMAN	L	43	ENSP00000270328:F43L	ENSP00000270328:F43L	F	-	3	2	ADAMTS10	8576203	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.351000	0.59398	2.520000	0.84964	0.491000	0.48974	TTC		0.677	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3		NM_030957		10	13	1	0	0.000442599	0.058154	0.000457967	10	13		
TNPO2	30000	broad.mit.edu	37	19	12826060	12826060	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:12826060G>A	ENST00000592287.1	-	7	753	c.645C>T	c.(643-645)atC>atT	p.I215I	TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000441499.1_Silent_p.I215I|TNPO2_ENST00000356861.5_Silent_p.I215I|TNPO2_ENST00000588216.1_Silent_p.I215I|TNPO2_ENST00000450764.2_Silent_p.I215I|TNPO2_ENST00000425528.1_Silent_p.I215I	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	215					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.I215I(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCCCACCTCGATGAAGGTGT	0.642																																						uc002muo.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(643-645)ATC>ATT		transportin 2 (importin 3, karyopherin beta 2b)							28.0	30.0	29.0					19																	12826060		2013	4158	6171	SO:0001819	synonymous_variant	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12826060G>A	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.645C>T	19.37:g.12826060G>A						TNPO2_uc002mup.2_Silent_p.I307I|TNPO2_uc002muq.2_Silent_p.I215I|TNPO2_uc002mur.2_Silent_p.I215I	p.I215I	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN			7	830	-			215			HEAT 3.		O14655|Q6IN77	Silent	SNP	ENST00000592287.1	37	c.645C>T	CCDS45991.1																																																																																				0.642	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1		NM_013433		7	18	0	0	0	0.02938	0	7	18		
ZNF569	148266	broad.mit.edu	37	19	37917250	37917250	+	Missense_Mutation	SNP	C	C	T	rs200022900		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:37917250C>T	ENST00000316950.6	-	4	603	c.46G>A	c.(46-48)Gac>Aac	p.D16N	ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000392149.2_Missense_Mutation_p.D16N|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000589833.1_Missense_Mutation_p.D40N|ZNF569_ENST00000591073.1_5'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D16N(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGTGAAGTCGATAGCCACA	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		17888	0.001		0.0	False		,,,				2504	0.0					uc002ogi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|skin(1)	3						c.(46-48)GAC>AAC		zinc finger protein 569							139.0	128.0	132.0					19																	37917250		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37917250C>T	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.46G>A	19.37:g.37917250C>T	ENSP00000325018:p.Asp16Asn					ZNF569_uc002ogh.2_Intron|ZNF569_uc002ogj.2_Missense_Mutation_p.D40N	p.D16N	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	604	-			16			KRAB.		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.46G>A	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538187	0.65085	.	.	ENSG00000196437	ENST00000316950	T	0.01998	4.51	3.59	3.59	0.41128	Krueppel-associated box (4);	.	.	.	.	T	0.05364	0.0142	L	0.33792	1.035	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.49437	-0.8940	9	0.45353	T	0.12	.	8.5252	0.33300	0.2307:0.7693:0.0:0.0	.	16	Q5MCW4	ZN569_HUMAN	N	16	ENSP00000325018:D16N	ENSP00000325018:D16N	D	-	1	0	ZNF569	42609090	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	0.564000	0.23563	1.993000	0.58246	0.563000	0.77884	GAC		0.398	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2		NM_152484		59	110	0	0	0	0.139131	0	59	110		
PRX	57716	broad.mit.edu	37	19	40900472	40900472	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40900472C>G	ENST00000324001.7	-	7	4057	c.3787G>C	c.(3787-3789)Gag>Cag	p.E1263Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1263					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E1263Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGGGCTGCTCCTCAGCACCC	0.706																																						uc002onr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(3787-3789)GAG>CAG		periaxin isoform 2							13.0	14.0	14.0					19																	40900472		2200	4292	6492	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900472C>G	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3787G>C	19.37:g.40900472C>G	ENSP00000326018:p.Glu1263Gln					PRX_uc002onq.2_Missense_Mutation_p.E1124Q|PRX_uc002ons.2_3'UTR	p.E1263Q	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4056	-			1263					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.3787G>C	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	1.995	-0.430915	0.04669	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01981	4.52	4.79	3.73	0.42828	.	1.230070	0.05695	N	0.593041	T	0.01940	0.0061	N	0.08118	0	0.58432	D	0.999999	B	0.34015	0.435	B	0.32864	0.154	T	0.56768	-0.7924	10	0.24483	T	0.36	-5.1265	12.5573	0.56261	0.0:0.8329:0.1671:0.0	.	1263	Q9BXM0	PRAX_HUMAN	Q	1263;1198	ENSP00000326018:E1263Q	ENSP00000326018:E1263Q	E	-	1	0	PRX	45592312	0.000000	0.05858	0.130000	0.21974	0.225000	0.24961	0.336000	0.19823	1.219000	0.43474	0.561000	0.74099	GAG		0.706	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956		10	24	0	0	0	0.058154	0	10	24		
PRX	57716	broad.mit.edu	37	19	40901150	40901150	+	Missense_Mutation	SNP	C	C	G	rs571311308	byFrequency	TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40901150C>G	ENST00000324001.7	-	7	3379	c.3109G>C	c.(3109-3111)Gaa>Caa	p.E1037Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1037					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E1037Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCACTAGTTCTGCTGCCTCA	0.627																																						uc002onr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(3109-3111)GAA>CAA		periaxin isoform 2							60.0	54.0	56.0					19																	40901150		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901150C>G	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3109G>C	19.37:g.40901150C>G	ENSP00000326018:p.Glu1037Gln					PRX_uc002onq.2_Missense_Mutation_p.E898Q|PRX_uc002ons.2_3'UTR	p.E1037Q	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	3378	-			1037					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.3109G>C	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	4.204	0.036647	0.08148	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.00730	5.77	4.54	4.54	0.55810	.	0.295773	0.23953	N	0.042929	T	0.01124	0.0037	M	0.61703	1.905	0.19575	N	0.999961	B	0.22003	0.063	B	0.24701	0.055	T	0.46527	-0.9185	10	0.14656	T	0.56	-3.9034	9.915	0.41427	0.0:0.9044:0.0:0.0956	.	1037	Q9BXM0	PRAX_HUMAN	Q	1037	ENSP00000326018:E1037Q	ENSP00000326018:E1037Q	E	-	1	0	PRX	45592990	0.046000	0.20272	0.043000	0.18650	0.618000	0.37518	1.746000	0.38288	2.366000	0.80165	0.313000	0.20887	GAA		0.627	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956		22	140	0	0	0	0.069288	0	22	140		
PRX	57716	broad.mit.edu	37	19	40901173	40901173	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40901173C>G	ENST00000324001.7	-	7	3356	c.3086G>C	c.(3085-3087)aGa>aCa	p.R1029T	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1029					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1029T(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTCCCGGCCTCTGACCCCAAA	0.637																																						uc002onr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(3085-3087)AGA>ACA		periaxin isoform 2							50.0	51.0	51.0					19																	40901173		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901173C>G	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3086G>C	19.37:g.40901173C>G	ENSP00000326018:p.Arg1029Thr					PRX_uc002onq.2_Missense_Mutation_p.R890T|PRX_uc002ons.2_3'UTR	p.R1029T	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	3355	-			1029					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.3086G>C	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042522	0.35989	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01043	5.41	4.54	0.345	0.16011	.	0.409504	0.20584	N	0.089469	T	0.01092	0.0036	L	0.44542	1.39	0.80722	D	1	P	0.38504	0.634	B	0.33620	0.167	T	0.67405	-0.5679	10	0.52906	T	0.07	-5.2862	6.5022	0.22176	0.0:0.379:0.0:0.621	.	1029	Q9BXM0	PRAX_HUMAN	T	1029	ENSP00000326018:R1029T	ENSP00000326018:R1029T	R	-	2	0	PRX	45593013	0.000000	0.05858	0.958000	0.39756	0.831000	0.47069	0.423000	0.21313	0.304000	0.22809	0.313000	0.20887	AGA		0.637	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956		26	152	0	0	0	0.134883	0	26	152		
PRX	57716	broad.mit.edu	37	19	40901264	40901264	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40901264C>G	ENST00000324001.7	-	7	3265	c.2995G>C	c.(2995-2997)Gat>Cat	p.D999H	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	999					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D999H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGTGGGCATCCAGGCTGAGC	0.667																																						uc002onr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(2995-2997)GAT>CAT		periaxin isoform 2							38.0	44.0	42.0					19																	40901264		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901264C>G	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2995G>C	19.37:g.40901264C>G	ENSP00000326018:p.Asp999His					PRX_uc002onq.2_Missense_Mutation_p.D860H|PRX_uc002ons.2_3'UTR	p.D999H	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	3264	-			999					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.2995G>C	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423881	0.43020	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.06142	3.34	4.22	3.19	0.36642	.	0.000000	0.44688	D	0.000427	T	0.14098	0.0341	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01326	-1.1384	10	0.72032	D	0.01	-12.46	10.7869	0.46411	0.0:0.9041:0.0:0.0959	.	999	Q9BXM0	PRAX_HUMAN	H	999	ENSP00000326018:D999H	ENSP00000326018:D999H	D	-	1	0	PRX	45593104	0.238000	0.23825	0.997000	0.53966	0.773000	0.43773	1.428000	0.34892	0.995000	0.38917	0.313000	0.20887	GAT		0.667	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956		29	139	0	0	0	0.144211	0	29	139		
PRX	57716	broad.mit.edu	37	19	40901420	40901420	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40901420C>T	ENST00000324001.7	-	7	3109	c.2839G>A	c.(2839-2841)Gag>Aag	p.E947K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	947					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E947K(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCTCAGCCTCTGCCTTAGCC	0.577																																						uc002onr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(2839-2841)GAG>AAG		periaxin isoform 2							89.0	100.0	96.0					19																	40901420		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901420C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2839G>A	19.37:g.40901420C>T	ENSP00000326018:p.Glu947Lys					PRX_uc002onq.2_Missense_Mutation_p.E808K|PRX_uc002ons.2_3'UTR	p.E947K	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	3108	-			947					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.2839G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509874	0.64522	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02812	4.15	5.07	5.07	0.68467	.	0.000000	0.47852	D	0.000206	T	0.09024	0.0223	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.46857	-0.9161	10	0.30078	T	0.28	-32.7848	17.2186	0.86951	0.0:1.0:0.0:0.0	.	947	Q9BXM0	PRAX_HUMAN	K	947	ENSP00000326018:E947K	ENSP00000326018:E947K	E	-	1	0	PRX	45593260	0.001000	0.12720	0.978000	0.43139	0.665000	0.39181	1.542000	0.36137	2.362000	0.80069	0.462000	0.41574	GAG		0.577	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956		51	239	0	0	0	0.139131	0	51	239		
PRX	57716	broad.mit.edu	37	19	40901603	40901603	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40901603C>G	ENST00000324001.7	-	7	2926	c.2656G>C	c.(2656-2658)Gag>Cag	p.E886Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	886					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E886Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGCCACCTCAGGGCCCTCC	0.637																																						uc002onr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(2656-2658)GAG>CAG		periaxin isoform 2							41.0	49.0	46.0					19																	40901603		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901603C>G	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2656G>C	19.37:g.40901603C>G	ENSP00000326018:p.Glu886Gln					PRX_uc002onq.2_Missense_Mutation_p.E747Q|PRX_uc002ons.2_3'UTR	p.E886Q	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2925	-			886					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.2656G>C	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	0.228	-1.022943	0.02061	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01998	4.51	5.06	-4.4	0.03600	.	1.132000	0.06914	N	0.808205	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.15870	0.014	T	0.50021	-0.8876	10	0.15066	T	0.55	-0.3176	6.4219	0.21748	0.0:0.2121:0.2984:0.4895	.	886	Q9BXM0	PRAX_HUMAN	Q	886	ENSP00000326018:E886Q	ENSP00000326018:E886Q	E	-	1	0	PRX	45593443	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.521000	0.06245	-0.430000	0.07318	-0.910000	0.02820	GAG		0.637	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956		13	114	0	0	0	0.050027	0	13	114		
CEACAM21	90273	broad.mit.edu	37	19	42082676	42082676	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:42082676G>A	ENST00000401445.2	+	1	76	c.50G>A	c.(49-51)gGg>gAg	p.G17E	CEACAM21_ENST00000482870.2_Intron|CEACAM21_ENST00000187608.9_Missense_Mutation_p.G17E|CEACAM21_ENST00000407170.2_Intron			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	17						integral component of membrane (GO:0016021)		p.G17E(2)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCCTGGCAGGGGCTCTTGCTC	0.652																																						uc002ore.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(49-51)GGG>GAG		carcinoembryonic antigen-related cell adhesion							38.0	39.0	39.0					19																	42082676		2203	4300	6503	SO:0001583	missense	90273					integral to membrane		g.chr19:42082676G>A	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.50G>A	19.37:g.42082676G>A	ENSP00000385739:p.Gly17Glu					CEACAM21_uc002orc.1_Intron|CEACAM21_uc002ord.1_Intron|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Missense_Mutation_p.G17E	p.G17E	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN			1	146	+			17					B7WNQ6|O75296|Q6UY47|Q96ER7	Missense_Mutation	SNP	ENST00000401445.2	37	c.50G>A	CCDS46086.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159091	0.21454	.	.	ENSG00000007129	ENST00000187608;ENST00000401445	T;T	0.35605	1.3;1.31	2.26	1.15	0.20763	.	.	.	.	.	T	0.31979	0.0814	L	0.37466	1.105	0.09310	N	1	B;B	0.34313	0.448;0.338	B;P	0.44647	0.421;0.456	T	0.33137	-0.9880	9	0.25106	T	0.35	.	5.5425	0.17045	0.1869:0.0:0.8131:0.0	.	17;17	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	E	17	ENSP00000187608:G17E;ENSP00000385739:G17E	ENSP00000187608:G17E	G	+	2	0	CEACAM21	46774516	0.001000	0.12720	0.038000	0.18304	0.165000	0.22458	0.282000	0.18829	0.259000	0.21709	0.123000	0.15791	GGG		0.652	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1		NM_033543		9	55	0	0	0	0.047766	0	9	55		
ALDH16A1	126133	broad.mit.edu	37	19	49971800	49971800	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:49971800C>T	ENST00000293350.4	+	15	2264	c.2101C>T	c.(2101-2103)Ctg>Ttg	p.L701L	ALDH16A1_ENST00000433981.2_Silent_p.L536L|ALDH16A1_ENST00000455361.2_Silent_p.L650L|ALDH16A1_ENST00000540132.1_Silent_p.L538L|CTD-3148I10.9_ENST00000599536.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	701						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.L701L(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGCCTGTCCTCTGCTGGCCCT	0.667																																						uc002pnt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(2101-2103)CTG>TTG		aldehyde dehydrogenase 16 family, member A1							100.0	105.0	103.0					19																	49971800		2203	4300	6503	SO:0001819	synonymous_variant	126133						oxidoreductase activity|protein binding	g.chr19:49971800C>T	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.2101C>T	19.37:g.49971800C>T						ALDH16A1_uc010yar.1_Silent_p.L650L|ALDH16A1_uc010yas.1_Silent_p.L536L|ALDH16A1_uc010yat.1_Silent_p.L538L	p.L701L	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	15	2217	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	701					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	c.2101C>T	CCDS12766.1																																																																																				0.667	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1		NM_153329		14	274	0	0	0	0.11911	0	14	274		
KLK14	43847	broad.mit.edu	37	19	51582812	51582812	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:51582812G>A	ENST00000156499.2	-	5	626	c.408C>T	c.(406-408)ccC>ccT	p.P136P	KLK14_ENST00000391802.1_Silent_p.P136P			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	136	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)	p.P120P(1)|p.P136P(1)		kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CGATCCGTGCGGGCTGCTGTA	0.657																																					GBM(117;2161 2172 2448 22911)	uc002pvs.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(1)	1						c.(406-408)CCC>CCT		kallikrein 14 preproprotein							45.0	52.0	49.0					19																	51582812		2050	4173	6223	SO:0001819	synonymous_variant	43847				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity	g.chr19:51582812G>A	AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"""Kallikreins"""	6362	protein-coding gene	gene with protein product		606135	"""kallikrein 14"""			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.408C>T	19.37:g.51582812G>A							p.P136P	NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)	5	627	-		all_neural(266;0.0199)	136			Peptidase S1.		A7UNK5|Q1RMZ2|Q6B089	Silent	SNP	ENST00000156499.2	37	c.408C>T	CCDS12823.2																																																																																				0.657	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2		NM_022046		8	48	0	0	0	0.069234	0	8	48		
ZNF677	342926	broad.mit.edu	37	19	53741588	53741588	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:53741588C>T	ENST00000598513.1	-	5	542	c.392G>A	c.(391-393)aGa>aAa	p.R131K	ZNF677_ENST00000333952.4_Missense_Mutation_p.R131K|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R131K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTGATCTTTTCTGTGAGTGAG	0.358																																						uc002qbf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(391-393)AGA>AAA		zinc finger protein 677							147.0	141.0	143.0					19																	53741588		2203	4299	6502	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53741588C>T	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.392G>A	19.37:g.53741588C>T	ENSP00000469391:p.Arg131Lys					ZNF677_uc002qbg.1_Missense_Mutation_p.R131K	p.R131K	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	577	-			131						Missense_Mutation	SNP	ENST00000598513.1	37	c.392G>A	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.531797	0.00951	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.06449	3.3	2.29	2.29	0.28610	.	0.775970	0.10693	N	0.644974	T	0.04634	0.0126	N	0.12182	0.205	0.09310	N	1	D	0.53151	0.958	P	0.46629	0.522	T	0.23119	-1.0197	10	0.09338	T	0.73	.	10.6967	0.45903	0.0:1.0:0.0:0.0	.	131	Q86XU0	ZN677_HUMAN	K	131	ENSP00000334394:R131K	ENSP00000334394:R131K	R	-	2	0	ZNF677	58433400	0.000000	0.05858	0.090000	0.20809	0.074000	0.17049	-0.097000	0.11042	1.592000	0.50018	0.655000	0.94253	AGA		0.358	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1		NM_182609		43	115	0	0	0	0.117977	0	43	115		
PRKCG	5582	broad.mit.edu	37	19	54403944	54403944	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:54403944G>A	ENST00000263431.3	+	14	1798	c.1516G>A	c.(1516-1518)Gtc>Atc	p.V506I	PRKCG_ENST00000542049.1_Missense_Mutation_p.V393I|PRKCG_ENST00000540413.1_Missense_Mutation_p.V506I	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	506	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.V506I(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TAAGGAGAACGTCTTCCCCGG	0.587																																						uc002qcq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(1516-1518)GTC>ATC		protein kinase C, gamma							242.0	233.0	236.0					19																	54403944		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54403944G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1516G>A	19.37:g.54403944G>A	ENSP00000263431:p.Val506Ile					PRKCG_uc010yeg.1_Missense_Mutation_p.V506I|PRKCG_uc010yeh.1_Missense_Mutation_p.V393I	p.V506I	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	14	1798	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		506			Protein kinase.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.1516G>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	1.948	-0.442051	0.04604	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.64618	-0.11;-0.11;-0.11	4.24	3.17	0.36434	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.33147	0.0853	N	0.05351	-0.065	0.32813	D	0.501766	B;B;B	0.14805	0.011;0.003;0.002	B;B;B	0.13407	0.009;0.004;0.006	T	0.38415	-0.9662	9	0.02654	T	1	.	7.1784	0.25757	0.2094:0.0:0.7906:0.0	.	393;506;506	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	I	506;506;393	ENSP00000443493:V506I;ENSP00000263431:V506I;ENSP00000438090:V393I	ENSP00000263431:V506I	V	+	1	0	PRKCG	59095756	1.000000	0.71417	0.996000	0.52242	0.920000	0.55202	3.127000	0.50484	2.088000	0.63022	0.462000	0.41574	GTC		0.587	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3		NM_002739		435	273	0	0	0	0.139131	0	435	273		
CNOT3	4849	broad.mit.edu	37	19	54656169	54656169	+	Silent	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:54656169C>A	ENST00000406403.1	+	14	3313	c.1710C>A	c.(1708-1710)atC>atA	p.I570I	CNOT3_ENST00000358389.3_Silent_p.I389I|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Silent_p.I570I			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	570	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.I570I(1)|p.I389I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCACAGACATCATCCTGAGCA	0.667																																						uc002qdj.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1708-1710)ATC>ATA		CCR4-NOT transcription complex, subunit 3							111.0	123.0	119.0					19																	54656169		2203	4300	6503	SO:0001819	synonymous_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54656169C>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1710C>A	19.37:g.54656169C>A						CNOT3_uc010yel.1_Silent_p.I570I|CNOT3_uc002qdi.2_Silent_p.I483I|CNOT3_uc002qdk.1_Silent_p.I570I|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Silent_p.I25I	p.I570I	NM_014516	NP_055331	O75175	CNOT3_HUMAN			15	2021	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		570			Pro-rich.		Q9NZN7|Q9UF76	Silent	SNP	ENST00000406403.1	37	c.1710C>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	C	9.048	0.991418	0.18966	.	.	ENSG00000088038	ENST00000457463	.	.	.	4.32	3.2	0.36748	.	.	.	.	.	T	0.63534	0.2519	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62821	-0.6773	4	.	.	.	-21.3657	12.7997	0.57578	0.0:0.719:0.281:0.0	.	.	.	.	N	102	.	.	H	+	1	0	CNOT3	59347981	0.878000	0.30173	1.000000	0.80357	0.872000	0.50106	0.090000	0.15025	2.115000	0.64714	0.655000	0.94253	CAT		0.667	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3		NM_014516		54	305	1	0	5.99346e-17	0.139131	6.42464e-17	54	305		
ZNF671	79891	broad.mit.edu	37	19	58232870	58232870	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:58232870C>T	ENST00000317398.6	-	4	679	c.584G>A	c.(583-585)gGg>gAg	p.G195E	ZNF671_ENST00000335820.3_Missense_Mutation_p.G97E|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G195E(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCACATGCCCCACACAAGTA	0.488																																						uc002qpz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(583-585)GGG>GAG		zinc finger protein 671							159.0	150.0	153.0					19																	58232870		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232870C>T		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.584G>A	19.37:g.58232870C>T	ENSP00000321848:p.Gly195Glu					ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.G118E|ZNF671_uc010yhf.1_Missense_Mutation_p.G97E	p.G195E	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	683	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	195			C2H2-type 1; degenerate.		A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.584G>A	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	5.999	0.368275	0.11352	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.27104	1.69;1.69	1.58	-0.675	0.11364	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09774	0.0240	N	0.11789	0.175	0.09310	N	1	B	0.17038	0.02	B	0.10450	0.005	T	0.37056	-0.9722	9	0.06891	T	0.86	.	3.9262	0.09265	0.0:0.5536:0.0:0.4464	.	195	Q8TAW3	ZN671_HUMAN	E	195;97	ENSP00000321848:G195E;ENSP00000338670:G97E	ENSP00000321848:G195E	G	-	2	0	ZNF671	62924682	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-3.445000	0.00468	-0.126000	0.11682	0.467000	0.42956	GGG		0.488	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1		NM_024833		57	209	0	0	0	0.139131	0	57	209		
SNTG2	54221	broad.mit.edu	37	2	1241711	1241711	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:1241711C>T	ENST00000308624.5	+	10	900	c.771C>T	c.(769-771)ctC>ctT	p.L257L	SNTG2_ENST00000407292.1_Silent_p.L130L	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	257					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.L257L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTGGGATCCTCCGGTTTTACA	0.642																																						uc002qwq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(769-771)CTC>CTT		syntrophin, gamma 2							44.0	48.0	47.0					2																	1241711		2199	4298	6497	SO:0001819	synonymous_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1241711C>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.771C>T	2.37:g.1241711C>T						SNTG2_uc010ewi.2_Silent_p.L130L	p.L257L	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	10	899	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	257					Q05AH5	Silent	SNP	ENST00000308624.5	37	c.771C>T	CCDS46220.1																																																																																				0.642	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1		NM_018968		6	8	0	0	0	0.02938	0	6	8		
TPO	7173	broad.mit.edu	37	2	1520688	1520688	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:1520688C>T	ENST00000345913.4	+	15	2643	c.2552C>T	c.(2551-2553)tCc>tTc	p.S851F	TPO_ENST00000337415.3_Missense_Mutation_p.S851F|TPO_ENST00000349624.3_Missense_Mutation_p.S678F|TPO_ENST00000346956.3_Missense_Mutation_p.S807F|TPO_ENST00000329066.4_Missense_Mutation_p.S851F|TPO_ENST00000382201.3_Missense_Mutation_p.S794F|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Missense_Mutation_p.S678F	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	851					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.S851F(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACTTGGATCTCCATGTCGCTG	0.572																																						uc002qww.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(2551-2553)TCC>TTC		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						73.0	74.0	74.0					2																	1520688		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1520688C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2552C>T	2.37:g.1520688C>T	ENSP00000318820:p.Ser851Phe					TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.S794F|TPO_uc002qwr.2_Missense_Mutation_p.S851F|TPO_uc002qwx.2_Missense_Mutation_p.S794F|TPO_uc010yio.1_Missense_Mutation_p.S678F|TPO_uc010yip.1_Missense_Mutation_p.S807F|TPO_uc002qwy.1_Missense_Mutation_p.S147F|TPO_uc002qwz.2_RNA	p.S851F	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	15	2643	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	851			Helical; (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.2552C>T	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.16|15.16	2.752199|2.752199	0.49362|0.49362	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607;ENST00000425083	.|T;T;T;T;T;T;T;T;T;T	.|0.71103	.|-0.27;-0.3;-0.35;-0.03;-0.3;-0.24;-0.03;-0.41;0.43;-0.54	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|1.140860	.|0.06572	.|N	.|0.748690	T|T	0.74313|0.74313	0.3700|0.3700	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;0.999	.|D;D;D;D	.|0.87578	.|0.998;0.981;0.977;0.95	T|T	0.69000|0.69000	-0.5261|-0.5261	5|10	.|0.87932	.|D	.|0	-54.139|-54.139	15.0163|15.0163	0.71588|0.71588	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|807;678;794;851	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	S|F	326|851;851;807;678;851;794;678;736;281;72	.|ENSP00000337263:S851F;ENSP00000318820:S851F;ENSP00000263886:S807F;ENSP00000332044:S678F;ENSP00000329869:S851F;ENSP00000371636:S794F;ENSP00000371633:S678F;ENSP00000405788:S736F;ENSP00000419461:S281F;ENSP00000389659:S72F	.|ENSP00000329869:S851F	P|S	+|+	1|2	0|0	TPO|TPO	1499695|1499695	0.999000|0.999000	0.42202|0.42202	0.863000|0.863000	0.33907|0.33907	0.019000|0.019000	0.09904|0.09904	3.137000|3.137000	0.50562|0.50562	2.612000|2.612000	0.88384|0.88384	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.572	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2		NM_000547		35	73	0	0	0	0.074837	0	35	73		
TRIM54	57159	broad.mit.edu	37	2	27505677	27505677	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:27505677C>T	ENST00000380075.2	+	1	418	c.78C>T	c.(76-78)tgC>tgT	p.C26C	TRIM54_ENST00000296098.4_Silent_p.C26C	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	26					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.C10C(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTCATCTGCCCCATCTGCC	0.587																																						uc002rjo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(76-78)TGC>TGT		ring finger protein 30 isoform 2							260.0	217.0	232.0					2																	27505677		2203	4300	6503	SO:0001819	synonymous_variant	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27505677C>T	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.78C>T	2.37:g.27505677C>T						TRIM54_uc002rjn.2_Silent_p.C26C	p.C26C	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN			1	78	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		26			RING-type.		A5D8T7|Q53SY4|Q9BYV3	Silent	SNP	ENST00000380075.2	37	c.78C>T	CCDS1746.2																																																																																				0.587	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2		NM_187841		72	360	0	0	0	0.139131	0	72	360		
PSME4	23198	broad.mit.edu	37	2	54159084	54159084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:54159084G>A	ENST00000404125.1	-	10	1259	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	402					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.Q402*(1)|p.Q288*(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGGACAGGCTGAATAATGCAT	0.453																																						uc002rxp.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(1204-1206)CAG>TAG		proteasome (prosome, macropain) activator							89.0	81.0	84.0					2																	54159084		2203	4300	6503	SO:0001587	stop_gained	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54159084G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1204C>T	2.37:g.54159084G>A	ENSP00000384211:p.Gln402*					PSME4_uc010yop.1_Nonsense_Mutation_p.Q288*|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	p.Q402*	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		10	1260	-			402					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Nonsense_Mutation	SNP	ENST00000404125.1	37	c.1204C>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	37	6.077871	0.97262	.	.	ENSG00000068878	ENST00000404125	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	20.0846	0.97795	0.0:0.0:1.0:0.0	.	.	.	.	X	402	.	ENSP00000374643:Q402X	Q	-	1	0	PSME4	54012588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.810000	0.99221	2.822000	0.97130	0.650000	0.86243	CAG		0.453	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1		XM_040158		44	57	0	0	0	0.117977	0	44	57		
REG3G	130120	broad.mit.edu	37	2	79254983	79254983	+	Missense_Mutation	SNP	G	G	A	rs377578383		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:79254983G>A	ENST00000272324.5	+	5	568	c.384G>A	c.(382-384)atG>atA	p.M128I	REG3G_ENST00000393897.2_Missense_Mutation_p.M128I|REG3G_ENST00000409471.1_Missense_Mutation_p.M82I	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	128	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.M128I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGATGTGATGAATTACTTTG	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18742	0.0		0.0	False		,,,				2504	0.0					uc002snw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(382-384)ATG>ATA		regenerating islet-derived 3 gamma precursor		G	ILE/MET,ILE/MET	2,4404	4.2+/-10.8	0,2,2201	157.0	151.0	153.0		384,384	0.1	0.0	2		153	0,8600		0,0,4300	no	missense,missense	REG3G	NM_001008387.1,NM_198448.2	10,10	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	128/176,128/176	79254983	2,13004	2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79254983G>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.384G>A	2.37:g.79254983G>A	ENSP00000272324:p.Met128Ile					REG3G_uc002snx.2_Missense_Mutation_p.M128I|REG3G_uc010ffu.2_Missense_Mutation_p.M82I	p.M128I	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			5	469	+			128			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.384G>A	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	G	8.542	0.873431	0.17322	4.54E-4	0.0	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.18960	2.18;2.18;2.37	4.74	0.133	0.14766	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.966960	0.02436	N	0.084060	T	0.14056	0.0340	N	0.20685	0.6	0.09310	N	1	B;B	0.14012	0.009;0.009	B;B	0.21151	0.026;0.033	T	0.24657	-1.0154	10	0.41790	T	0.15	.	3.0646	0.06210	0.1067:0.3637:0.3778:0.1517	.	82;128	Q3SYE6;Q6UW15	.;REG3G_HUMAN	I	128;128;82	ENSP00000377475:M128I;ENSP00000272324:M128I;ENSP00000387105:M82I	ENSP00000272324:M128I	M	+	3	0	REG3G	79108491	0.023000	0.18921	0.024000	0.17045	0.008000	0.06430	-0.373000	0.07494	0.206000	0.20587	-0.211000	0.12701	ATG		0.502	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1		NM_198448		45	174	0	0	0	0.117977	0	45	174		
FER1L5	90342	broad.mit.edu	37	2	97361264	97361264	+	RNA	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:97361264C>T	ENST00000457909.1	+	0	3263							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1281W(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CTGGGGCCTTCGGAACATGAA	0.602																																						uc010fia.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(3841-3843)CGG>TGG		fer-1-like 5 isoform 2							15.0	17.0	17.0					2																	97361264		1890	4116	6006			90342					integral to membrane		g.chr2:97361264C>T	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97361264C>T						FER1L5_uc002sws.3_5'UTR|FER1L5_uc010fib.1_RNA|FER1L5_uc002swt.3_5'UTR|FER1L5_uc010yus.1_5'UTR	p.R1281W	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			34	3841	+			1281					Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	37	c.3841C>T		.	.	.	.	.	.	.	.	.	.	C	13.90	2.374346	0.42105	.	.	ENSG00000214272	ENST00000414152;ENST00000436930	.	.	.	4.45	4.45	0.53987	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.81442	0.4823	M	0.88181	2.935	.	.	.	D	0.89917	1.0	D	0.87578	0.998	D	0.87278	0.2290	7	0.87932	D	0	-10.5254	14.1728	0.65522	0.0:1.0:0.0:0.0	.	1281	A0AVI2	FR1L5_HUMAN	W	1281;1295	.	ENSP00000444148:R1281W	R	+	1	2	FER1L5	96724991	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	2.859000	0.48364	2.316000	0.78162	0.456000	0.33151	CGG		0.602	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1		NM_001077400		8	8	0	0	0	0.047766	0	8	8		
GPR45	11250	broad.mit.edu	37	2	105858505	105858505	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:105858505G>A	ENST00000258456.1	+	1	306	c.190G>A	c.(190-192)Gct>Act	p.A64T		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A64T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CCAGAGGCCGGCTATGCGCTC	0.617																																						uc002tco.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(190-192)GCT>ACT		G protein-coupled receptor 45							138.0	122.0	127.0					2																	105858505		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858505G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.190G>A	2.37:g.105858505G>A	ENSP00000258456:p.Ala64Thr						p.A64T	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	306	+			64			Cytoplasmic (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.190G>A	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301189	0.60195	.	.	ENSG00000135973	ENST00000258456	T	0.72505	-0.66	5.6	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.060526	0.64402	N	0.000004	T	0.68952	0.3057	M	0.63169	1.94	0.54753	D	0.99998	B	0.28258	0.205	B	0.35312	0.2	T	0.64765	-0.6330	10	0.40728	T	0.16	-26.056	11.2286	0.48899	0.0699:0.128:0.8022:0.0	.	64	Q9Y5Y3	GPR45_HUMAN	T	64	ENSP00000258456:A64T	ENSP00000258456:A64T	A	+	1	0	GPR45	105224937	1.000000	0.71417	0.844000	0.33320	0.990000	0.78478	5.793000	0.69060	0.725000	0.32318	0.462000	0.41574	GCT		0.617	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1		NM_007227		110	46	0	0	0	0.139131	0	110	46		
ST6GAL2	84620	broad.mit.edu	37	2	107460193	107460193	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:107460193G>C	ENST00000409382.3	-	2	851	c.241C>G	c.(241-243)Ccc>Gcc	p.P81A	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.P81A|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P81A	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	81					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.P81A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGGGCGCGGGGCAGCGCCTGG	0.657																																						uc002tdq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(6)|ovary(4)|skin(1)	11						c.(241-243)CCC>GCC		ST6 beta-galactosamide							19.0	24.0	23.0					2																	107460193		2147	4206	6353	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460193G>C	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.241C>G	2.37:g.107460193G>C	ENSP00000386942:p.Pro81Ala					ST6GAL2_uc002tdr.2_Missense_Mutation_p.P81A|ST6GAL2_uc002tds.3_Missense_Mutation_p.P81A	p.P81A	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	360	-			81			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.241C>G	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	7.484	0.649370	0.14516	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.28069	2.64;2.64;1.63	5.05	2.19	0.27852	.	0.848744	0.10856	N	0.626687	T	0.15522	0.0374	N	0.14661	0.345	0.09310	N	1	B;B	0.28258	0.205;0.043	B;B	0.18871	0.023;0.01	T	0.28299	-1.0048	10	0.14252	T	0.57	-3.0231	9.2167	0.37351	0.1437:0.0:0.7346:0.1217	.	81;81	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	A	81	ENSP00000355273:P81A;ENSP00000386942:P81A;ENSP00000387332:P81A	ENSP00000355273:P81A	P	-	1	0	ST6GAL2	106826625	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.631000	0.24568	0.165000	0.19558	-1.119000	0.02030	CCC		0.657	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1		NM_032528		27	72	0	0	0	0.125774	0	27	72		
HNMT	3176	broad.mit.edu	37	2	138771674	138771674	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:138771674C>G	ENST00000280097.3	+	6	1035	c.853C>G	c.(853-855)Ctg>Gtg	p.L285V	HNMT_ENST00000410115.1_Missense_Mutation_p.L285V	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	285					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)	p.L285V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	TAATAATACTCTGAGTTTCAT	0.343																																						uc002tvc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(853-855)CTG>GTG		histamine N-methyltransferase isoform 1	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)						86.0	91.0	89.0					2																	138771674		2203	4300	6503	SO:0001583	missense	3176				respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity	g.chr2:138771674C>G		CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.853C>G	2.37:g.138771674C>G	ENSP00000280097:p.Leu285Val					HNMT_uc002tvf.2_Missense_Mutation_p.L285V	p.L285V	NM_006895	NP_008826	P50135	HNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.125)	7	1001	+			285					B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Missense_Mutation	SNP	ENST00000280097.3	37	c.853C>G	CCDS2181.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083295	0.55861	.	.	ENSG00000150540	ENST00000410115;ENST00000280097	T;T	0.44881	0.91;0.91	5.79	2.61	0.31194	.	0.063209	0.64402	D	0.000005	T	0.49966	0.1588	M	0.71581	2.175	0.80722	D	1	D	0.63046	0.992	P	0.53809	0.735	T	0.49322	-0.8952	10	0.48119	T	0.1	-15.7457	8.5472	0.33429	0.1124:0.6799:0.0:0.2077	.	285	P50135	HNMT_HUMAN	V	285	ENSP00000386940:L285V;ENSP00000280097:L285V	ENSP00000280097:L285V	L	+	1	2	HNMT	138488144	0.595000	0.26857	0.703000	0.30354	0.922000	0.55478	0.980000	0.29513	0.812000	0.34326	0.591000	0.81541	CTG		0.343	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254673.1				19	112	0	0	0	0.049695	0	19	112		
LRP1B	53353	broad.mit.edu	37	2	141598563	141598563	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:141598563G>A	ENST00000389484.3	-	30	6009	c.5038C>T	c.(5038-5040)Cta>Tta	p.L1680L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1680					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L1680L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGCCATCTAGCCTTGCCACA	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5038-5040)CTA>TTA		low density lipoprotein-related protein 1B							132.0	117.0	122.0					2																	141598563		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141598563G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5038C>T	2.37:g.141598563G>A		TSP Lung(27;0.18)					p.L1680L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	30	6010	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1680			Extracellular (Potential).|LDL-receptor class B 15.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.5038C>T	CCDS2182.1																																																																																				0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		48	62	0	0	0	0.131918	0	48	62		
KCNH7	90134	broad.mit.edu	37	2	163302755	163302755	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:163302755C>G	ENST00000332142.5	-	7	1426	c.1327G>C	c.(1327-1329)Gaa>Caa	p.E443Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.E436Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	443					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.E436Q(1)|p.E443Q(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TAGCCACATTCTCGTCTTTTC	0.378																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|skin(2)	5						c.(1327-1329)GAA>CAA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						94.0	83.0	87.0					2																	163302755		2203	4299	6502	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163302755C>G	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1327G>C	2.37:g.163302755C>G	ENSP00000331727:p.Glu443Gln					KCNH7_uc002uci.2_Missense_Mutation_p.E436Q	p.E443Q	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			7	1539	-			443			Extracellular (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1327G>C	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543348	0.45280	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.94758	-3.51;-3.51	5.7	5.7	0.88788	.	0.044645	0.85682	D	0.000000	D	0.91740	0.7388	L	0.38531	1.155	0.58432	D	0.999999	B;B	0.16603	0.018;0.017	B;B	0.19946	0.008;0.027	D	0.86936	0.2076	10	0.27082	T	0.32	.	19.8219	0.96602	0.0:1.0:0.0:0.0	.	436;443	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Q	443;436	ENSP00000331727:E443Q;ENSP00000333781:E436Q	ENSP00000333781:E436Q	E	-	1	0	KCNH7	163011001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.927000	0.63440	2.696000	0.92011	0.650000	0.86243	GAA		0.378	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1		NM_033272		28	39	0	0	0	0.108266	0	28	39		
NFE2L2	4780	broad.mit.edu	37	2	178095734	178095734	+	Missense_Mutation	SNP	T	T	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:178095734T>G	ENST00000397062.3	-	5	2151	c.1597A>C	c.(1597-1599)Aaa>Caa	p.K533Q	NFE2L2_ENST00000464747.1_Missense_Mutation_p.K517Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.K510Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.K517Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	533	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K533Q(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTTTCATCTTTCAAATGATCT	0.343			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NaN		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1597-1599)AAA>CAA		nuclear factor erythroid 2-like 2 isoform 1							148.0	130.0	136.0					2																	178095734		1817	4072	5889	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178095734T>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1597A>C	2.37:g.178095734T>G	ENSP00000380252:p.Lys533Gln	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.K517Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.K510Q|NFE2L2_uc002uli.3_Missense_Mutation_p.K517Q	p.K533Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	2152	-			533			Leucine-zipper.		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.1597A>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	6.302	0.423818	0.11928	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	5.95	5.95	0.96441	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.91576	0.7339	L	0.28400	0.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88712	0.3223	10	0.13853	T	0.58	-22.0502	16.4069	0.83677	0.0:0.0:0.0:1.0	.	510;533	E9PGJ7;Q16236	.;NF2L2_HUMAN	Q	517;533;510;261	ENSP00000380253:K517Q;ENSP00000380252:K533Q;ENSP00000411575:K510Q;ENSP00000391590:K261Q	ENSP00000380252:K533Q	K	-	1	0	NFE2L2	177803980	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.050000	0.64251	2.272000	0.75746	0.460000	0.39030	AAA		0.343	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		NM_006164		101	103	0	0	0	0.139131	0	101	103		
TTN	7273	broad.mit.edu	37	2	179482509	179482509	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:179482509T>C	ENST00000591111.1	-	203	42870	c.42646A>G	c.(42646-42648)Att>Gtt	p.I14216V	TTN_ENST00000342992.6_Missense_Mutation_p.I13289V|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I6984V|TTN_ENST00000589042.1_Missense_Mutation_p.I15857V|TTN_ENST00000460472.2_Missense_Mutation_p.I6792V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I6917V|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14216					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I13289V(2)|p.I6792V(1)|p.I6917V(1)|p.I6984V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTACCAATTGGATCAGCA	0.378																																						uc010zfg.1		NaN																	5	Substitution - Missense(5)		urinary_tract(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(39865-39867)ATT>GTT		titin isoform N2-A							127.0	117.0	120.0					2																	179482509		1912	4120	6032	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179482509T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42646A>G	2.37:g.179482509T>C	ENSP00000465570:p.Ile14216Val					TTN_uc010zfh.1_Missense_Mutation_p.I6984V|TTN_uc010zfi.1_Missense_Mutation_p.I6917V|TTN_uc010zfj.1_Missense_Mutation_p.I6792V	p.I13289V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		202	40089	-			14216					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.39865A>G		.	.	.	.	.	.	.	.	.	.	T	11.50	1.658579	0.29515	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.84	4.68	0.58851	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33962	0.0881	L	0.38649	1.16	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.11470	-1.0586	9	0.87932	D	0	.	11.0678	0.47985	0.0:0.075:0.0:0.925	.	6792;6917;6984;14216	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	13289;6792;6984;6917;6792	ENSP00000343764:I13289V;ENSP00000434586:I6792V;ENSP00000340554:I6984V;ENSP00000352154:I6917V	ENSP00000340554:I6984V	I	-	1	0	TTN	179190754	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.500000	0.53318	1.031000	0.39867	0.533000	0.62120	ATT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		17	68	0	0	0	0.062417	0	17	68		
CASP8	841	broad.mit.edu	37	2	202141587	202141587	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:202141587G>A	ENST00000432109.2	+	8	887	c.698G>A	c.(697-699)cGg>cAg	p.R233Q	CASP8_ENST00000358485.4_Missense_Mutation_p.R292Q|CASP8_ENST00000323492.7_Missense_Mutation_p.R218Q|CASP8_ENST00000392259.2_Silent_p.S211S|CASP8_ENST00000264275.5_Missense_Mutation_p.R250Q|CASP8_ENST00000392258.3_Silent_p.S211S|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000392266.3_Silent_p.S196S	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	233					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.R250Q(2)|p.R292Q(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGCAAACCTCGGGGATACTGT	0.428										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(697-699)CGG>CAG		caspase 8 isoform B precursor							82.0	78.0	79.0					2																	202141587		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202141587G>A	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.698G>A	2.37:g.202141587G>A	ENSP00000412523:p.Arg233Gln	HNSCC(4;0.00038)				CASP8_uc002uxo.1_Silent_p.S211S|CASP8_uc002uxp.1_Missense_Mutation_p.R250Q|CASP8_uc002uxq.1_Missense_Mutation_p.R218Q|CASP8_uc002uxt.1_Missense_Mutation_p.R292Q|CASP8_uc002uxu.1_RNA|CASP8_uc002uxv.1_Missense_Mutation_p.R218Q|CASP8_uc002uxw.1_Missense_Mutation_p.R218Q|CASP8_uc002uxy.1_Missense_Mutation_p.R233Q|CASP8_uc002uxx.1_Missense_Mutation_p.R218Q|CASP8_uc010ftf.2_Intron|CASP8_uc010fte.1_Silent_p.S93S	p.R233Q	NM_033355	NP_203519	Q14790	CASP8_HUMAN			8	907	+			233					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.698G>A	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801013	0.70567	.	.	ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492	D;D;D;D;D;D	0.83914	-1.51;-1.51;-1.78;-1.78;-1.51;-1.51	5.6	5.6	0.85130	Peptidase C14, caspase precursor p45, core (2);DEATH-like (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.194920	0.44097	D	0.000497	D	0.85548	0.5722	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;P;D;D	0.80764	0.983;0.943;0.969;0.828;0.994;0.954	D	0.86801	0.1992	10	0.56958	D	0.05	.	16.7622	0.85515	0.0:0.0:1.0:0.0	.	233;218;292;233;218;250	Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;.;CASP8_HUMAN;.;.	Q	218;233;250;115;292;218;218	ENSP00000376091:R218Q;ENSP00000412523:R233Q;ENSP00000264275:R250Q;ENSP00000391709:R115Q;ENSP00000351273:R292Q;ENSP00000325722:R218Q	ENSP00000264275:R250Q	R	+	2	0	CASP8	201849832	0.980000	0.34600	0.989000	0.46669	0.314000	0.28054	2.132000	0.42083	2.624000	0.88883	0.561000	0.74099	CGG		0.428	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2		NM_001228		26	21	0	0	0	0.134883	0	26	21		
PLCD4	84812	broad.mit.edu	37	2	219501002	219501002	+	Missense_Mutation	SNP	G	G	A	rs369131130		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:219501002G>A	ENST00000450993.2	+	15	2408	c.2069G>A	c.(2068-2070)cGg>cAg	p.R690Q	RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Missense_Mutation_p.R722Q|PLCD4_ENST00000417849.1_Missense_Mutation_p.R690Q	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	690	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.R690Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTATGTTTCCGGGTGCTGGTG	0.448																																						uc002vij.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(2068-2070)CGG>CAG		phospholipase C, delta 4		G	GLN/ARG	0,3978		0,0,1989	209.0	205.0	206.0		2069	1.3	1.0	2		206	1,8321		0,1,4160	no	missense	PLCD4	NM_032726.3	43	0,1,6149	AA,AG,GG		0.012,0.0,0.0081	benign	690/763	219501002	1,12299	1989	4161	6150	SO:0001583	missense	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219501002G>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.2069G>A	2.37:g.219501002G>A	ENSP00000388631:p.Arg690Gln						p.R690Q	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	15	2264	+		Renal(207;0.0915)	690			C2.		Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.2069G>A	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	4.827	0.153823	0.09185	0.0	1.2E-4	ENSG00000115556	ENST00000450993;ENST00000417849;ENST00000432688	T;T;T	0.68765	-0.35;-0.35;-0.35	5.17	1.28	0.21552	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.266688	0.35207	N	0.003378	T	0.37652	0.1011	N	0.12471	0.22	0.21553	N	0.999648	B	0.20550	0.046	B	0.15052	0.012	T	0.28902	-1.0029	10	0.02654	T	1	.	8.1466	0.31115	0.5237:0.0:0.4763:0.0	.	690	Q9BRC7	PLCD4_HUMAN	Q	690;690;722	ENSP00000388631:R690Q;ENSP00000396942:R690Q;ENSP00000396185:R722Q	ENSP00000396942:R690Q	R	+	2	0	PLCD4	219209246	0.297000	0.24408	0.985000	0.45067	0.980000	0.70556	0.687000	0.25407	0.336000	0.23639	0.655000	0.94253	CGG		0.448	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1				168	183	0	0	0	0.139131	0	168	183		
KIF1A	547	broad.mit.edu	37	2	241702670	241702670	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:241702670G>A	ENST00000320389.7	-	20	1993	c.1835C>T	c.(1834-1836)aCg>aTg	p.T612M	KIF1A_ENST00000498729.2_Missense_Mutation_p.T621M	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	612					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.T612M(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCAGCTGGCGTCTCCGCACA	0.642																																						uc002vzy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(1834-1836)ACG>ATG		axonal transport of synaptic vesicles							24.0	26.0	25.0					2																	241702670		2141	4251	6392	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241702670G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1835C>T	2.37:g.241702670G>A	ENSP00000322791:p.Thr612Met					KIF1A_uc010fzk.2_Missense_Mutation_p.T621M|KIF1A_uc002vzz.1_Missense_Mutation_p.T621M	p.T612M	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	20	1981	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	612					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1835C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979882	0.34942	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.73469	-0.75;-0.75;-0.75	3.93	3.93	0.45458	.	0.000000	0.85682	U	0.000000	T	0.78310	0.4263	L	0.55743	1.74	0.80722	D	1	B;P;D	0.67145	0.04;0.571;0.996	B;B;P	0.52758	0.063;0.351;0.708	T	0.82323	-0.0514	10	0.72032	D	0.01	.	16.3222	0.82954	0.0:0.0:1.0:0.0	.	621;621;612	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	M	612;621;621;621	ENSP00000322791:T612M;ENSP00000438388:T621M;ENSP00000384231:T621M	ENSP00000322791:T612M	T	-	2	0	KIF1A	241351343	1.000000	0.71417	0.785000	0.31869	0.093000	0.18481	9.433000	0.97501	1.915000	0.55452	0.467000	0.42956	ACG		0.642	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3		NM_138483		6	11	0	0	0	0.021553	0	6	11		
NSFL1C	55968	broad.mit.edu	37	20	1433180	1433180	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:1433180C>T	ENST00000216879.4	-	7	1610	c.743G>A	c.(742-744)gGa>gAa	p.G248E	NSFL1C_ENST00000353088.2_Missense_Mutation_p.G217E|NSFL1C_ENST00000476071.1_Missense_Mutation_p.G250E|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Missense_Mutation_p.G137E|NSFL1C_ENST00000350991.4_Missense_Mutation_p.G250E	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	248						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.G248E(1)		breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TTTGAAGGCTCCTTTGGGCTT	0.577																																						uc002wfc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(742-744)GGA>GAA		p47 protein isoform a							165.0	146.0	152.0					20																	1433180		2203	4300	6503	SO:0001583	missense	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1433180C>T	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.743G>A	20.37:g.1433180C>T	ENSP00000216879:p.Gly248Glu					NSFL1C_uc002wfd.2_Missense_Mutation_p.G137E|NSFL1C_uc002wfe.2_Missense_Mutation_p.G217E|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Missense_Mutation_p.G14E	p.G248E	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN			7	1691	-			248					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	c.743G>A	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732196	0.30684	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.40756	1.03;1.02;1.02;1.02;1.02	5.13	5.13	0.70059	SEP domain (3);	0.272209	0.36703	N	0.002460	T	0.24699	0.0599	N	0.14661	0.345	0.35747	D	0.819157	B;B;B	0.34147	0.069;0.438;0.328	B;B;B	0.33454	0.075;0.157;0.164	T	0.12760	-1.0535	10	0.02654	T	1	-16.709	17.2951	0.87168	0.0:1.0:0.0:0.0	.	217;137;248	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	E	217;250;248;137;250	ENSP00000338643:G217E;ENSP00000418529:G250E;ENSP00000216879:G248E;ENSP00000371074:G137E;ENSP00000202584:G250E	ENSP00000216879:G248E	G	-	2	0	NSFL1C	1381180	0.987000	0.35691	1.000000	0.80357	0.996000	0.88848	2.452000	0.44961	2.824000	0.97209	0.655000	0.94253	GGA		0.577	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2		NM_016143		146	330	0	0	0	0.139131	0	146	330		
TASP1	55617	broad.mit.edu	37	20	13463978	13463978	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:13463978C>G	ENST00000337743.4	-	11	1001	c.881G>C	c.(880-882)gGa>gCa	p.G294A	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Missense_Mutation_p.E97Q	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	294					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)	p.G294A(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AAGATGCTCTCCACATCCTAG	0.433																																						uc002woi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(880-882)GGA>GCA		taspase 1 precursor							135.0	123.0	127.0					20																	13463978		2203	4300	6503	SO:0001583	missense	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13463978C>G	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.881G>C	20.37:g.13463978C>G	ENSP00000338624:p.Gly294Ala					TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.G271A|TASP1_uc010zrj.1_RNA	p.G294A	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN			11	998	-			294					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	c.881G>C	CCDS13116.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.962667|4.962667	0.92791|0.92791	.|.	.|.	ENSG00000089123|ENSG00000089123	ENST00000539805|ENST00000378157;ENST00000337743;ENST00000455532	.|D;D	.|0.97455	.|-4.39;-4.39	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.048990	.|0.85682	.|D	.|0.000000	D|D	0.99190|0.99190	0.9719|0.9719	H|H	0.97829|0.97829	4.085|4.085	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.99	.|D;D	.|0.97110	.|1.0;0.989	D|D	0.98853|0.98853	1.0759|1.0759	6|10	0.46703|0.87932	T|D	0.11|0	-6.4361|-6.4361	19.8454|19.8454	0.96706|0.96706	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|294;271	.|Q9H6P5;Q5JWM4	.|TASP1_HUMAN;.	Q|A	97|271;294;271	.|ENSP00000338624:G294A;ENSP00000400580:G271A	ENSP00000444062:E97Q|ENSP00000338624:G294A	E|G	-|-	1|2	0|0	TASP1|TASP1	13411978|13411978	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.971000|0.971000	0.66376|0.66376	6.966000|6.966000	0.76073|0.76073	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.433	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2		NM_017714		59	154	0	0	0	0.139131	0	59	154		
SLC32A1	140679	broad.mit.edu	37	20	37353313	37353313	+	5'UTR	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:37353313C>G	ENST00000217420.1	+	0	209					NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1						aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTCTTGCATCGCGTTCCCCG	0.692																																						uc002xjc.2		NaN																	0					0						c.(-56--52)ATCGC>ATGGC		solute carrier family 32, member 1	Glycine(DB00145)																																			SO:0001623	5_prime_UTR_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37353313C>G	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.-55C>G	20.37:g.37353313C>G								NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			1	209	+		Myeloproliferative disorder(115;0.00878)						Q8N489	Translation_Start_Site	SNP	ENST00000217420.1	37	c.-54C>G	CCDS13307.1																																																																																				0.692	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1		NM_080552		8	57	0	0	0	0.038147	0	8	57		
NCOA5	57727	broad.mit.edu	37	20	44699006	44699006	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:44699006G>A	ENST00000290231.6	-	3	372	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	70	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R70W(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CTGTGATCCCGCAAATCTCTA	0.562																																						uc002xrd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(208-210)CGG>TGG		nuclear receptor coactivator 5							136.0	132.0	133.0					20																	44699006		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44699006G>A		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.208C>T	20.37:g.44699006G>A	ENSP00000290231:p.Arg70Trp					NCOA5_uc002xrc.2_5'UTR|NCOA5_uc002xre.2_Missense_Mutation_p.R70W	p.R70W	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN			2	736	-		Myeloproliferative disorder(115;0.0122)	70			Arg/Asp-rich (mixed charge).|Transcription repression.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.208C>T	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221434	0.58560	.	.	ENSG00000124160	ENST00000290231	T	0.55413	0.52	4.93	3.92	0.45320	.	0.191464	0.47852	D	0.000203	T	0.70395	0.3219	M	0.78049	2.395	0.44098	D	0.996864	D	0.89917	1.0	D	0.80764	0.994	T	0.73209	-0.4055	10	0.59425	D	0.04	-0.475	12.5287	0.56102	0.0:0.0:0.7888:0.2112	.	70	Q9HCD5	NCOA5_HUMAN	W	70	ENSP00000290231:R70W	ENSP00000290231:R70W	R	-	1	2	NCOA5	44132413	0.996000	0.38824	0.996000	0.52242	0.978000	0.69477	2.080000	0.41586	2.568000	0.86640	0.650000	0.86243	CGG		0.562	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1		NM_020967		6	330	0	0	0	0.021553	0	6	330		
CDH22	64405	broad.mit.edu	37	20	44841804	44841804	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:44841804C>G	ENST00000372262.3	-	5	1262	c.862G>C	c.(862-864)Gag>Cag	p.E288Q	CDH22_ENST00000537909.1_Missense_Mutation_p.E288Q|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	288	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E288Q(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGGGCTGACTCCTGGATGCTG	0.597																																						uc002xrm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(862-864)GAG>CAG		cadherin 22 precursor							87.0	64.0	71.0					20																	44841804		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44841804C>G	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.862G>C	20.37:g.44841804C>G	ENSP00000361336:p.Glu288Gln					CDH22_uc010ghk.1_Missense_Mutation_p.E288Q|CDH22_uc002xrn.1_Missense_Mutation_p.E39Q	p.E288Q	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			5	1263	-		Myeloproliferative disorder(115;0.0122)	288			Extracellular (Potential).|Cadherin 3.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.862G>C	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	c	25.2	4.614162	0.87359	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.75938	-0.98;-0.98	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.065055	0.64402	D	0.000010	D	0.89357	0.6692	H	0.95114	3.625	0.80722	D	1	D	0.76494	0.999	D	0.64776	0.929	D	0.92856	0.6301	10	0.87932	D	0	.	16.0495	0.80745	0.0:1.0:0.0:0.0	.	288	Q9UJ99	CAD22_HUMAN	Q	288	ENSP00000361336:E288Q;ENSP00000437790:E288Q	ENSP00000361336:E288Q	E	-	1	0	CDH22	44275211	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.483000	0.81158	2.256000	0.74724	0.550000	0.68814	GAG		0.597	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1		NM_021248		52	67	0	0	0	0.139131	0	52	67		
KCNG1	3755	broad.mit.edu	37	20	49626376	49626376	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:49626376C>T	ENST00000371571.4	-	2	785	c.500G>A	c.(499-501)cGc>cAc	p.R167H	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Missense_Mutation_p.R167H	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	167					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.R167H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CAGGTAGCGGCGCTTGCAGCA	0.687																																						uc002xwa.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(499-501)CGC>CAC		potassium voltage-gated channel, subfamily G,							39.0	40.0	40.0					20																	49626376		2203	4295	6498	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626376C>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.500G>A	20.37:g.49626376C>T	ENSP00000360626:p.Arg167His					KCNG1_uc002xwb.2_Missense_Mutation_p.R167H	p.R167H	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			2	795	-			167			Cytoplasmic (Potential).		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.500G>A	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901408	0.52227	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216;ENST00000424171	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.65	4.7	0.59300	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.62154	1.92	0.51767	D	0.999937	D;P	0.89917	1.0;0.94	D;B	0.81914	0.995;0.285	T	0.62445	-0.6853	9	.	.	.	.	16.5941	0.84791	0.0:0.8696:0.1304:0.0	.	167;167	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	H	167	ENSP00000360626:R167H;ENSP00000379338:R167H;ENSP00000394075:R167H;ENSP00000394093:R167H	.	R	-	2	0	KCNG1	49059783	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.960000	0.63673	1.362000	0.46000	0.561000	0.74099	CGC		0.687	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4		NM_002237		28	150	0	0	0	0.134883	0	28	150		
BCAS1	8537	broad.mit.edu	37	20	52645197	52645197	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:52645197T>A	ENST00000395961.3	-	4	623	c.457A>T	c.(457-459)Acc>Tcc	p.T153S	BCAS1_ENST00000411563.1_Missense_Mutation_p.T56S|BCAS1_ENST00000371440.3_Missense_Mutation_p.T153S|BCAS1_ENST00000371435.2_Missense_Mutation_p.T153S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	153						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.T153S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGCCCTGGGGTTTTATCTGTG	0.612																																						uc002xws.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(457-459)ACC>TCC		breast carcinoma amplified sequence 1							58.0	63.0	61.0					20																	52645197		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52645197T>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.457A>T	20.37:g.52645197T>A	ENSP00000379290:p.Thr153Ser					BCAS1_uc010zzb.1_Missense_Mutation_p.T56S|BCAS1_uc010gim.2_Missense_Mutation_p.T56S|BCAS1_uc002xwt.2_Missense_Mutation_p.T153S|BCAS1_uc010gil.1_Missense_Mutation_p.T153S|BCAS1_uc010zzc.1_Missense_Mutation_p.T56S	p.T153S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	795	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		153					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.457A>T	CCDS13444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.91|12.91	2.080312|2.080312	0.36662|0.36662	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000448710|ENST00000448484;ENST00000371440;ENST00000395961;ENST00000371435;ENST00000411563	.|T;T;T;T;T	.|0.08984	.|3.03;3.03;3.03;3.03;3.03	5.1|5.1	4.0|4.0	0.46444|0.46444	.|.	.|0.559720	.|0.18590	.|N	.|0.136779	T|T	0.08758|0.08758	0.0217|0.0217	L|L	0.59436|0.59436	1.845|1.845	0.26674|0.26674	N|N	0.971676|0.971676	.|P;B;B;B;B;B	.|0.36392	.|0.551;0.129;0.129;0.138;0.084;0.084	.|B;B;B;B;B;B	.|0.34779	.|0.189;0.067;0.067;0.04;0.066;0.066	T|T	0.20672|0.20672	-1.0268|-1.0268	6|10	0.87932|0.27785	D|T	0|0.31	-5.0708|-5.0708	6.9579|6.9579	0.24582|0.24582	0.0:0.1824:0.0:0.8176|0.0:0.1824:0.0:0.8176	.|.	.|56;153;153;153;153;153	.|B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.|.;.;.;.;.;BCAS1_HUMAN	N|S	31|15;153;153;153;56	.|ENSP00000396361:T15S;ENSP00000360495:T153S;ENSP00000379290:T153S;ENSP00000360490:T153S;ENSP00000397442:T56S	ENSP00000414174:K31N|ENSP00000360490:T153S	K|T	-|-	3|1	2|0	BCAS1|BCAS1	52078604|52078604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.019000|0.019000	0.09904|0.09904	2.872000|2.872000	0.48467|0.48467	0.890000|0.890000	0.36211|0.36211	0.455000|0.455000	0.32223|0.32223	AAA|ACC		0.612	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2		NM_003657		104	121	0	0	0	0.139131	0	104	121		
ADAMTS1	9510	broad.mit.edu	37	21	28214229	28214229	+	Silent	SNP	G	G	A	rs141975781		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr21:28214229G>A	ENST00000284984.3	-	3	1612	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	386	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S386S(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CTTCTATGACGGAGCAGCTTC	0.438																																						uc002ymf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(3)|large_intestine(2)|central_nervous_system(1)	6						c.(1156-1158)TCC>TCT		ADAM metallopeptidase with thrombospondin type 1							122.0	104.0	110.0					21																	28214229		2203	4300	6503	SO:0001819	synonymous_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28214229G>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1158C>T	21.37:g.28214229G>A							p.S386S	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	3	1613	-		Breast(209;0.000962)	386			Peptidase M12B.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	c.1158C>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	G	8.395	0.840538	0.16891	.	.	ENSG00000154734	ENST00000451462	.	.	.	5.55	-11.1	0.00147	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53251	-0.8465	4	.	.	.	.	5.4367	0.16486	0.2633:0.4684:0.1745:0.0937	.	.	.	.	L	168	.	.	P	-	2	0	ADAMTS1	27136100	0.000000	0.05858	0.079000	0.20413	0.981000	0.71138	-4.819000	0.00182	-3.410000	0.00169	-1.259000	0.01468	CCG		0.438	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2				38	84	0	0	0	0.069456	0	38	84		
TFF2	7032	broad.mit.edu	37	21	43767668	43767668	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr21:43767668G>A	ENST00000291526.4	-	3	473	c.303C>T	c.(301-303)tgC>tgT	p.C101C	TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2	101	P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				calcium-mediated signaling (GO:0019722)|chemokine-mediated signaling pathway (GO:0070098)|digestion (GO:0007586)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of inflammatory response (GO:0050728)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.C101C(1)		large_intestine(1)|pancreas(1)|urinary_tract(1)	3						TCCGAGAGGCGCATTCCTCGG	0.577																																						uc002zaw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(1)	1						c.(301-303)TGC>TGT		trefoil factor 2 precursor							88.0	75.0	79.0					21																	43767668		2203	4300	6503	SO:0001819	synonymous_variant	7032				digestion	extracellular region		g.chr21:43767668G>A		CCDS13684.1	21q22.3	2008-07-28	2008-07-28		ENSG00000160181	ENSG00000160181			11756	protein-coding gene	gene with protein product		182590	"""spasmolytic protein 1"""	SML1		1505966, 9043862	Standard	NM_005423		Approved		uc002zaw.3	Q03403	OTTHUMG00000086797	ENST00000291526.4:c.303C>T	21.37:g.43767668G>A							p.C101C	NM_005423	NP_005414	Q03403	TFF2_HUMAN			3	445	-			101			P-type 2.		Q15854	Silent	SNP	ENST00000291526.4	37	c.303C>T	CCDS13684.1																																																																																				0.577	TFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195355.1		NM_005423		10	51	0	0	0	0.058154	0	10	51		
MYO18B	84700	broad.mit.edu	37	22	26286747	26286747	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr22:26286747G>A	ENST00000407587.2	+	26	4511	c.4342G>A	c.(4342-4344)Gcc>Acc	p.A1448T	CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.A1447T|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1447T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1447	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A1448T(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCTGACCTTGCCGATGAGCG	0.592																																						uc003abz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(4339-4341)GCC>ACC		myosin XVIIIB							67.0	71.0	70.0					22																	26286747		2148	4252	6400	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26286747G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4342G>A	22.37:g.26286747G>A	ENSP00000386096:p.Ala1448Thr					MYO18B_uc003aca.1_Missense_Mutation_p.A1328T|MYO18B_uc010guy.1_Missense_Mutation_p.A1329T|MYO18B_uc010guz.1_Missense_Mutation_p.A1328T|MYO18B_uc011aka.1_Missense_Mutation_p.A601T|MYO18B_uc011akb.1_Missense_Mutation_p.A960T	p.A1447T	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			26	4589	+			1447			Potential.|Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4339G>A		.	.	.	.	.	.	.	.	.	.	G	11.52	1.661825	0.29515	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87966	-2.3;-2.3;-2.32	5.64	3.47	0.39725	.	0.306797	0.32444	N	0.006097	D	0.84835	0.5560	L	0.50333	1.59	0.18873	N	0.999984	P;P;P;D	0.52996	0.926;0.928;0.946;0.957	P;P;P;P	0.52066	0.597;0.491;0.592;0.689	T	0.74000	-0.3805	10	0.23302	T	0.38	.	6.1459	0.20285	0.095:0.0:0.61:0.295	.	960;1447;1448;1447	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	T	1447;1447;1448	ENSP00000441229:A1447T;ENSP00000334563:A1447T;ENSP00000386096:A1448T	ENSP00000334563:A1447T	A	+	1	0	MYO18B	24616747	0.560000	0.26570	0.066000	0.19879	0.036000	0.12997	1.189000	0.32114	1.389000	0.46526	0.585000	0.79938	GCC		0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1		NM_032608		65	24	0	0	0	0.139131	0	65	24		
SF3A1	10291	broad.mit.edu	37	22	30748978	30748978	+	Silent	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr22:30748978G>C	ENST00000215793.8	-	2	301	c.147C>G	c.(145-147)gtC>gtG	p.V49V	SF3A1_ENST00000439242.1_Silent_p.V49V	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	49					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V49V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CAATATTTCTGACCTCTGGAG	0.478																																						uc003ahl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(145-147)GTC>GTG		splicing factor 3a, subunit 1, 120kDa isoform 1							95.0	91.0	92.0					22																	30748978		2203	4300	6503	SO:0001819	synonymous_variant	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30748978G>C	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.147C>G	22.37:g.30748978G>C							p.V49V	NM_005877	NP_005868	Q15459	SF3A1_HUMAN			2	279	-			49					E9PAW1	Silent	SNP	ENST00000215793.8	37	c.147C>G	CCDS13875.1																																																																																				0.478	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2		NM_005877		29	172	0	0	0	0.116897	0	29	172		
CSNK1E	1454	broad.mit.edu	37	22	38698909	38698909	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr22:38698909C>T	ENST00000396832.1	-	4	553	c.293G>A	c.(292-294)cGc>cAc	p.R98H	CSNK1E_ENST00000403904.1_Missense_Mutation_p.R98H|CSNK1E_ENST00000359867.3_Missense_Mutation_p.R98H|CSNK1E_ENST00000405675.3_Missense_Mutation_p.R98H|CSNK1E_ENST00000413574.2_Missense_Mutation_p.R98H|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R98H	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R98H(9)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GCTGAATTTGCGGGAACAGAA	0.612																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	uc003avj.2		NaN																	9	Substitution - Missense(9)		urinary_tract(3)|lung(3)|kidney(3)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(292-294)CGC>CAC		casein kinase 1 epsilon							118.0	103.0	108.0					22																	38698909		2203	4300	6503	SO:0001583	missense	1454				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:38698909C>T		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.293G>A	22.37:g.38698909C>T	ENSP00000380044:p.Arg98His					CSNK1E_uc003avk.2_Missense_Mutation_p.R98H|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.R98H|CSNK1E_uc003avo.2_Missense_Mutation_p.R98H|CSNK1E_uc003avp.1_Missense_Mutation_p.R98H|CSNK1E_uc003avq.1_Missense_Mutation_p.R98H|LOC400927_uc010gxm.2_RNA	p.R98H	NM_152221	NP_689407	P49674	KC1E_HUMAN			4	554	-	Melanoma(58;0.045)		98			Protein kinase.			Missense_Mutation	SNP	ENST00000396832.1	37	c.293G>A	CCDS13970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.271224|5.271224	0.95429|0.95429	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000451964|ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675;ENST00000430335	.|T;T;T;T;T;T;T	.|0.66460	.|-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.05|5.05	5.05|5.05	0.67936|0.67936	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.114271	.|0.64402	.|D	.|0.000017	D|D	0.84515|0.84515	0.5489|0.5489	M|M	0.87617|0.87617	2.895|2.895	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.85130	.|0.98;0.991;0.997	D|D	0.87626|0.87626	0.2513|0.2513	5|10	.|0.87932	.|D	.|0	.|.	18.0168|18.0168	0.89243|0.89243	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|98;98;98	.|B0QY35;B0QY34;P49674	.|.;.;KC1E_HUMAN	T|H	36|98	.|ENSP00000352929:R98H;ENSP00000380044:R98H;ENSP00000383067:R98H;ENSP00000384074:R98H;ENSP00000407235:R98H;ENSP00000384426:R98H;ENSP00000412335:R98H	.|ENSP00000352929:R98H	A|R	-|-	1|2	0|0	CSNK1E|CSNK1E	37028855|37028855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	7.711000|7.711000	0.84669|0.84669	2.342000|2.342000	0.79632|0.79632	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.612	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1		NM_001894		5	205	0	0	0	0.021553	0	5	205		
CELSR1	9620	broad.mit.edu	37	22	46792543	46792543	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr22:46792543G>A	ENST00000262738.3	-	13	5801	c.5802C>T	c.(5800-5802)tgC>tgT	p.C1934C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1934	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.C1934C(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCCACACTCGCACACGTAGC	0.622																																						uc003bhw.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(5800-5802)TGC>TGT		cadherin EGF LAG seven-pass G-type receptor 1							42.0	38.0	39.0					22																	46792543		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46792543G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5802C>T	22.37:g.46792543G>A						CELSR1_uc011arc.1_Silent_p.C255C	p.C1934C	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	13	5802	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1934			Extracellular (Potential).|EGF-like 6; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.5802C>T	CCDS14076.1																																																																																				0.622	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246		7	20	0	0	0	0.02938	0	7	20		
GRM7	2917	broad.mit.edu	37	3	6903515	6903515	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:6903515C>T	ENST00000357716.4	+	1	714	c.440C>T	c.(439-441)cCg>cTg	p.P147L	GRM7_ENST00000486284.1_Missense_Mutation_p.P147L|GRM7_ENST00000403881.1_Missense_Mutation_p.P147L|GRM7_ENST00000389336.4_Missense_Mutation_p.P147L|GRM7_ENST00000402647.2_Missense_Mutation_p.P147L	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	147					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.P147L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TTCGTCAAGCCGGAGAAAGTA	0.597																																						uc003bqm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|lung(3)	7						c.(439-441)CCG>CTG		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						77.0	83.0	81.0					3																	6903515		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903515C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.440C>T	3.37:g.6903515C>T	ENSP00000350348:p.Pro147Leu					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.P147L|GRM7_uc003bql.2_Missense_Mutation_p.P147L	p.P147L	NM_000844	NP_000835	Q14831	GRM7_HUMAN			1	714	+			147			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.440C>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607778	0.66558	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.23	5.23	0.72850	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000002	D	0.92351	0.7573	M	0.78801	2.425	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.946	D;D;P	0.91635	0.998;0.999;0.587	D	0.92955	0.6384	10	0.62326	D	0.03	.	17.4424	0.87568	0.0:1.0:0.0:0.0	.	147;147;147	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	L	147	ENSP00000350348:P147L;ENSP00000417536:P147L;ENSP00000373987:P147L;ENSP00000385664:P147L;ENSP00000384585:P147L	ENSP00000350348:P147L	P	+	2	0	GRM7	6878515	1.000000	0.71417	0.962000	0.40283	0.995000	0.86356	7.706000	0.84615	2.444000	0.82710	0.558000	0.71614	CCG		0.597	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3		NM_000844		23	70	0	0	0	0.0918	0	23	70		
VILL	50853	broad.mit.edu	37	3	38039653	38039653	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:38039653G>A	ENST00000283713.6	+	8	1103	c.837G>A	c.(835-837)caG>caA	p.Q279Q	VILL_ENST00000383759.2_Silent_p.Q279Q|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	279					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.Q279Q(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACCTGCTGCAGGAGGAGGTGA	0.642																																						uc003chj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(835-837)CAG>CAA		villin-like protein							69.0	70.0	69.0					3																	38039653		2203	4300	6503	SO:0001819	synonymous_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38039653G>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.837G>A	3.37:g.38039653G>A						VILL_uc003chk.1_Silent_p.Q279Q|VILL_uc003chl.2_Silent_p.Q279Q|VILL_uc010hgu.2_Silent_p.Q109Q	p.Q279Q	NM_015873	NP_056957	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	8	1123	+			279			Gelsolin-like 3.		A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	c.837G>A	CCDS2670.2																																																																																				0.642	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3		NM_015873		11	35	0	0	0	0.069234	0	11	35		
SLC6A20	54716	broad.mit.edu	37	3	45811793	45811793	+	Missense_Mutation	SNP	C	C	T	rs185440350		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:45811793C>T	ENST00000358525.4	-	7	1121	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	SLC6A20_ENST00000353278.4_Missense_Mutation_p.V299M|SLC6A20_ENST00000456124.2_Missense_Mutation_p.V336M	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	336					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.V299M(1)|p.V336M(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TAGCCCTTCACCTGCTCCAGG	0.517																																						uc011bai.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(1006-1008)GTG>ATG		solute carrier family 6, member 20 isoform 1							112.0	95.0	101.0					3																	45811793		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45811793C>T	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1006G>A	3.37:g.45811793C>T	ENSP00000346298:p.Val336Met					SLC6A20_uc003cow.2_Translation_Start_Site|SLC6A20_uc011baj.1_Missense_Mutation_p.V299M	p.V336M	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	7	1130	-			336			Extracellular (Potential).		A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.1006G>A	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	7.920	0.738428	0.15574	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	T;T;T	0.77098	-1.07;-0.96;-0.97	4.0	3.11	0.35812	.	0.609972	0.16420	N	0.215206	T	0.56381	0.1981	N	0.16903	0.455	0.31132	N	0.707647	B;B	0.16166	0.016;0.011	B;B	0.17979	0.011;0.02	T	0.50056	-0.8872	10	0.23891	T	0.37	.	3.7368	0.08514	0.0:0.6396:0.0:0.3604	.	299;336	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	M	299;336;336	ENSP00000296133:V299M;ENSP00000346298:V336M;ENSP00000404310:V336M	ENSP00000296133:V299M	V	-	1	0	SLC6A20	45786797	0.976000	0.34144	1.000000	0.80357	0.857000	0.48899	2.012000	0.40932	2.210000	0.71456	0.563000	0.77884	GTG		0.517	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3		NM_020208		15	61	0	0	0	0.11911	0	15	61		
SMARCC1	6599	broad.mit.edu	37	3	47752241	47752241	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:47752241C>T	ENST00000254480.5	-	9	969	c.850G>A	c.(850-852)Gat>Aat	p.D284N	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	284					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)	p.D284N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ACCTCATAATCCTCCTCATTC	0.343																																						uc003crq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|lung(1)	3						c.(850-852)GAT>AAT		SWI/SNF-related matrix-associated							124.0	114.0	117.0					3																	47752241		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47752241C>T	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.850G>A	3.37:g.47752241C>T	ENSP00000254480:p.Asp284Asn					SMARCC1_uc011bbd.1_Missense_Mutation_p.D175N	p.D284N	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	9	968	-			284					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.850G>A	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	35	5.515936	0.96402	.	.	ENSG00000173473	ENST00000254480	T	0.58940	0.3	5.5	5.5	0.81552	BRCT (1);	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81538	-0.0887	10	0.87932	D	0	-29.3992	18.3369	0.90291	0.0:1.0:0.0:0.0	.	284	Q92922	SMRC1_HUMAN	N	284	ENSP00000254480:D284N	ENSP00000254480:D284N	D	-	1	0	SMARCC1	47727245	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.630000	0.83225	2.744000	0.94065	0.655000	0.94253	GAT		0.343	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1				33	89	0	0	0	0.064281	0	33	89		
RNF123	63891	broad.mit.edu	37	3	49757948	49757948	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:49757948G>C	ENST00000327697.6	+	36	3649	c.3505G>C	c.(3505-3507)Gag>Cag	p.E1169Q	RNF123_ENST00000433785.1_Missense_Mutation_p.E281Q|GMPPB_ENST00000308375.6_3'UTR|AMIGO3_ENST00000320431.7_5'Flank|RNF123_ENST00000497099.1_3'UTR|GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000535833.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1169					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E1169Q(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACCTAGGAGAGAGCAAGCCAC	0.577																																						uc003cxh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7						c.(3505-3507)GAG>CAG		ring finger protein 123							43.0	34.0	37.0					3																	49757948		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49757948G>C	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3505G>C	3.37:g.49757948G>C	ENSP00000328287:p.Glu1169Gln					RNF123_uc003cxi.2_RNA|AMIGO3_uc003cxj.2_5'Flank	p.E1169Q	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	36	3591	+			1169					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.3505G>C	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605678	0.46527	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.72942	-0.7	4.97	4.01	0.46588	.	0.188551	0.37012	N	0.002294	T	0.41073	0.1143	N	0.03608	-0.345	0.09310	N	1	B	0.30482	0.281	B	0.22601	0.04	T	0.20472	-1.0274	10	0.15066	T	0.55	-26.1682	10.704	0.45944	0.0993:0.0:0.9007:0.0	.	1169	Q5XPI4	RN123_HUMAN	Q	1169;1169;281	ENSP00000328287:E1169Q	ENSP00000328287:E1169Q	E	+	1	0	RNF123	49732952	0.996000	0.38824	0.196000	0.23383	0.833000	0.47200	2.869000	0.48444	2.583000	0.87209	0.561000	0.74099	GAG		0.577	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2		NM_022064		14	56	0	0	0	0.11911	0	14	56		
CACNA1D	776	broad.mit.edu	37	3	53766966	53766966	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:53766966C>G	ENST00000350061.5	+	19	3109	c.2598C>G	c.(2596-2598)ttC>ttG	p.F866L	CACNA1D_ENST00000288139.4_Missense_Mutation_p.F886L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.F866L	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	866					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.F886L(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGCGCTTTCTTCATTCTTA	0.547																																						uc003dgv.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(2596-2598)TTC>TTG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						85.0	83.0	84.0					3																	53766966		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53766966C>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2598C>G	3.37:g.53766966C>G	ENSP00000288133:p.Phe866Leu					CACNA1D_uc003dgu.3_Missense_Mutation_p.F886L|CACNA1D_uc003dgy.3_Missense_Mutation_p.F866L|CACNA1D_uc003dgw.3_Missense_Mutation_p.F533L|CACNA1D_uc003dgx.1_Missense_Mutation_p.F14L	p.F866L	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	19	2761	+			866			Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2598C>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819826	0.71028	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.95656	-3.73;-3.77;-3.76;-3.54	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.94095	0.8107	L	0.40543	1.245	0.80722	D	1	P;P;B;P	0.51147	0.942;0.847;0.326;0.815	P;B;B;P	0.50270	0.636;0.318;0.084;0.519	D	0.93248	0.6632	10	0.44086	T	0.13	.	12.7519	0.57314	0.0:0.9246:0.0:0.0754	.	866;559;866;886	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	L	866;886;866;559	ENSP00000288133:F866L;ENSP00000288139:F886L;ENSP00000409174:F866L;ENSP00000418014:F559L	ENSP00000288139:F886L	F	+	3	2	CACNA1D	53742006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.974000	0.56852	2.663000	0.90544	0.655000	0.94253	TTC		0.547	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1		NM_000720		38	37	0	0	0	0.080422	0	38	37		
SLC25A26	115286	broad.mit.edu	37	3	66293723	66293723	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:66293723C>T	ENST00000413054.1	+	1	97	c.23C>T	c.(22-24)tCt>tTt	p.S8F	SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000336733.6_Missense_Mutation_p.S8F|SLC25A26_ENST00000354883.6_Missense_Mutation_p.S96F			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	96					S-adenosyl-L-methionine transmembrane transport (GO:1901962)|S-adenosyl-L-methionine transport (GO:0015805)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	S-adenosyl-L-methionine transmembrane transporter activity (GO:0000095)	p.S96F(1)		endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		TTGGCTGCCTCTGCTGGAGAA	0.318																																						uc011bfq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(286-288)TCT>TTT		solute carrier family 25, member 26 isoform a							130.0	131.0	131.0					3																	66293723		2203	4300	6503	SO:0001583	missense	115286					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity	g.chr3:66293723C>T	AJ580932	CCDS54604.1, CCDS2905.2	3p14.2	2013-05-22	2012-03-29		ENSG00000144741	ENSG00000144741		"""Solute carriers"""	20661	protein-coding gene	gene with protein product		611037	"""solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26"""			14674884	Standard	NM_173471		Approved		uc011bfq.2	Q70HW3	OTTHUMG00000149917	ENST00000413054.1:c.23C>T	3.37:g.66293723C>T	ENSP00000415304:p.Ser8Phe					SLC25A26_uc011bfs.1_Missense_Mutation_p.S8F|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Missense_Mutation_p.S96F|SLC25A26_uc003dmt.2_Missense_Mutation_p.S8F	p.S96F	NM_173471	NP_775742	Q70HW3	SAMC_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)	4	1015	+		Lung NSC(201;0.00774)	96			Solcar 2.|Helical; Name=3; (Potential).		A8K758|B3KRZ7|Q7Z786|Q96E68	Missense_Mutation	SNP	ENST00000413054.1	37	c.287C>T		.	.	.	.	.	.	.	.	.	.	C	19.73	3.881913	0.72294	.	.	ENSG00000144741	ENST00000354883;ENST00000336733	T;T	0.79845	-1.31;-1.31	5.8	5.8	0.92144	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.84772	0.5546	M	0.64630	1.985	0.80722	D	1	P;P	0.36768	0.569;0.481	B;P	0.45428	0.401;0.48	D	0.84565	0.0652	10	0.62326	D	0.03	-18.1295	20.051	0.97627	0.0:1.0:0.0:0.0	.	96;96	F8WAB8;Q70HW3	.;SAMC_HUMAN	F	96;8	ENSP00000346955:S96F;ENSP00000336801:S8F	ENSP00000336801:S8F	S	+	2	0	SLC25A26	66376414	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	5.949000	0.70257	2.740000	0.93945	0.650000	0.86243	TCT		0.318	SLC25A26-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000313895.2		NM_173471		37	104	0	0	0	0.09836	0	37	104		
IFT122	55764	broad.mit.edu	37	3	129195257	129195257	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:129195257C>G	ENST00000348417.2	+	10	993	c.916C>G	c.(916-918)Ctt>Gtt	p.L306V	IFT122_ENST00000507564.1_Missense_Mutation_p.L298V|IFT122_ENST00000440957.2_Missense_Mutation_p.L97V|IFT122_ENST00000504021.1_Missense_Mutation_p.L200V|IFT122_ENST00000296266.3_Missense_Mutation_p.L357V|IFT122_ENST00000347300.2_Missense_Mutation_p.L247V|IFT122_ENST00000431818.2_Missense_Mutation_p.L156V|IFT122_ENST00000349441.2_Missense_Mutation_p.L195V	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	306					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.L357V(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCAAGTATCTCTTTTCACCAA	0.507																																						uc003emm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(916-918)CTT>GTT		WD repeat domain 10 isoform 2							108.0	109.0	109.0					3																	129195257		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129195257C>G	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.916C>G	3.37:g.129195257C>G	ENSP00000324005:p.Leu306Val					IFT122_uc003eml.2_Missense_Mutation_p.L357V|IFT122_uc003emn.2_Missense_Mutation_p.L247V|IFT122_uc003emo.2_Missense_Mutation_p.L195V|IFT122_uc003emp.2_Missense_Mutation_p.L156V|IFT122_uc010htc.2_Missense_Mutation_p.L298V|IFT122_uc011bky.1_Missense_Mutation_p.L97V|IFT122_uc003emq.2_Missense_Mutation_p.L146V|IFT122_uc003emr.2_Missense_Mutation_p.L97V|IFT122_uc011bla.1_Missense_Mutation_p.L97V|IFT122_uc011bkx.1_Missense_Mutation_p.L146V|IFT122_uc011bkz.1_RNA	p.L306V	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			10	1122	+			306			WD 5.		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.916C>G	CCDS3061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.342602|5.342602	0.95783|0.95783	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957|ENST00000512157;ENST00000515783	T;T;T;D;T;T;T;D|T;T	0.89123|0.55234	-0.07;1.74;1.74;-2.47;1.61;1.61;-0.07;-2.47|0.53;1.55	5.75|5.75	5.75|5.75	0.90469|0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73179|0.73179	0.3554|0.3554	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.76494|.	0.998;0.982;0.995;0.998;0.998;0.999;0.997;0.998|.	D;D;P;P;P;D;D;D|.	0.77557|.	0.99;0.952;0.831;0.882;0.882;0.919;0.978;0.99|.	T|T	0.74774|0.74774	-0.3551|-0.3551	10|7	0.56958|0.62326	D|D	0.05|0.03	-15.2736|-15.2736	19.9478|19.9478	0.97189|0.97189	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	97;298;200;146;195;247;306;357|.	E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1|.	.;.;.;.;.;.;IF122_HUMAN;.|.	V|C	247;357;298;247;156;200;195;306;146;97|184;132	ENSP00000323973:L247V;ENSP00000296266:L357V;ENSP00000425536:L298V;ENSP00000410946:L156V;ENSP00000422179:L200V;ENSP00000324165:L195V;ENSP00000324005:L306V;ENSP00000401569:L97V|ENSP00000424206:S184C;ENSP00000423288:S132C	ENSP00000296266:L357V|ENSP00000424206:S184C	L|S	+|+	1|2	0|0	IFT122|IFT122	130677947|130677947	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.991000|0.991000	0.79684|0.79684	5.734000|5.734000	0.68580|0.68580	2.712000|2.712000	0.92718|0.92718	0.591000|0.591000	0.81541|0.81541	CTT|TCT		0.507	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1		NM_018262		72	71	0	0	0	0.139131	0	72	71		
IGSF10	285313	broad.mit.edu	37	3	151163672	151163672	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:151163672G>C	ENST00000282466.3	-	4	4096	c.4097C>G	c.(4096-4098)tCt>tGt	p.S1366C		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	1366					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.S1366C(1)		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)			AGTGAAGCCAGAACTCTGGTC	0.478																																						uc011bod.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(4096-4098)TCT>TGT		immunoglobulin superfamily, member 10 precursor							228.0	219.0	222.0					3																	151163672		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151163672G>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.4097C>G	3.37:g.151163672G>C	ENSP00000282466:p.Ser1366Cys						p.S1366C	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	4097	-			1366					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.4097C>G	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854723	0.32791	.	.	ENSG00000152580	ENST00000282466	T	0.69806	-0.43	4.52	1.53	0.23141	.	1.059360	0.07436	N	0.896560	T	0.55369	0.1916	L	0.32530	0.975	0.09310	N	1	D	0.54047	0.964	B	0.43916	0.436	T	0.47249	-0.9132	10	0.52906	T	0.07	.	5.1575	0.15042	0.1771:0.0:0.5772:0.2457	.	1366	Q6WRI0	IGS10_HUMAN	C	1366	ENSP00000282466:S1366C	ENSP00000282466:S1366C	S	-	2	0	IGSF10	152646362	0.005000	0.15991	0.110000	0.21437	0.197000	0.23852	1.121000	0.31283	0.479000	0.27511	0.591000	0.81541	TCT		0.478	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1		NM_178822		62	221	0	0	0	0.139131	0	62	221		
NMD3	51068	broad.mit.edu	37	3	160942825	160942825	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:160942825C>A	ENST00000460469.1	+	2	607	c.152C>A	c.(151-153)tCg>tAg	p.S51*	NMD3_ENST00000478160.1_Intron|NMD3_ENST00000472947.1_Nonsense_Mutation_p.S51*|NMD3_ENST00000351193.2_Nonsense_Mutation_p.S51*			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	51					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)	p.S51*(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AAACAAGTCTCGATTTCGTTC	0.413																																						uc003feb.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(151-153)TCG>TAG		NMD3 homolog							195.0	185.0	188.0					3																	160942825		2203	4300	6503	SO:0001587	stop_gained	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160942825C>A	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.152C>A	3.37:g.160942825C>A	ENSP00000419004:p.Ser51*					NMD3_uc003fec.2_Nonsense_Mutation_p.S51*|NMD3_uc003fed.1_Nonsense_Mutation_p.S51*	p.S51*	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		3	271	+			51					D3DNM7|Q9Y2Z6	Nonsense_Mutation	SNP	ENST00000460469.1	37	c.152C>A	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	C	37	6.592096	0.97688	.	.	ENSG00000169251	ENST00000468606;ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469	.	.	.	6.07	6.07	0.98685	.	0.237380	0.43110	D	0.000618	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-26.4437	16.7045	0.85368	0.0:0.871:0.129:0.0	.	.	.	.	X	51	.	ENSP00000307525:S51X	S	+	2	0	NMD3	162425519	0.078000	0.21339	0.212000	0.23672	0.731000	0.41821	1.825000	0.39081	2.885000	0.99019	0.655000	0.94253	TCG		0.413	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1		NM_015938		55	128	1	0	7.50695e-29	0.139131	8.25488e-29	55	128		
PPP1R2	5504	broad.mit.edu	37	3	195245954	195245954	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:195245954C>A	ENST00000328432.3	-	5	792	c.432G>T	c.(430-432)agG>agT	p.R144S		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	144					generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.R144S(1)		endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		AGTGAAGCTTCCTTTTCATTT	0.328																																						uc003fup.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	urinary_tract(1)	1						c.(430-432)AGG>AGT		protein phosphatase 1, regulatory subunit 2							81.0	80.0	81.0					3																	195245954		2203	4299	6502	SO:0001583	missense	5504				glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr3:195245954C>A	U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9288	protein-coding gene	gene with protein product		601792				9126490, 8119416	Standard	XM_006713682		Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.432G>T	3.37:g.195245954C>A	ENSP00000328178:p.Arg144Ser						p.R144S	NM_006241	NP_006232	P41236	IPP2_HUMAN	Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)	5	808	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		144						Missense_Mutation	SNP	ENST00000328432.3	37	c.432G>T	CCDS3309.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747619	0.69533	.	.	ENSG00000184203	ENST00000328432;ENST00000438848	.	.	.	5.16	3.33	0.38152	.	0.046906	0.85682	D	0.000000	D	0.85613	0.5737	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88194	0.2879	9	0.87932	D	0	.	10.5072	0.44841	0.0:0.8275:0.0:0.1725	.	144	P41236	IPP2_HUMAN	S	144;118	.	ENSP00000328178:R144S	R	-	3	2	PPP1R2	196727243	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	0.421000	0.21280	1.298000	0.44778	0.467000	0.42956	AGG		0.328	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1		NM_006241		51	59	1	0	1.22102e-19	0.139131	1.32797e-19	51	59		
RPL35A	6165	broad.mit.edu	37	3	197678160	197678160	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:197678160G>A	ENST00000464167.1	+	3	409	c.142G>A	c.(142-144)Gct>Act	p.A48T	RPL35A_ENST00000329092.8_3'UTR|RPL35A_ENST00000448864.1_Missense_Mutation_p.A48T|IQCG_ENST00000480302.1_Intron|IQCG_ENST00000453254.1_5'Flank|IQCG_ENST00000455191.1_5'Flank|IQCG_ENST00000265239.6_Intron	NM_000996.2	NP_000987.2	P18077	RL35A_HUMAN	ribosomal protein L35a	48					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)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|tRNA binding (GO:0000049)	p.A48T(1)		lung(1)|prostate(1)|urinary_tract(1)	3	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.182)		CAAGAGATGCGCTTATGTATA	0.403																																						uc003fyr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(142-144)GCT>ACT		ribosomal protein L35a							69.0	72.0	71.0					3																	197678160		2203	4300	6503	SO:0001583	missense	6165				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome|tRNA binding	g.chr3:197678160G>A	X52966	CCDS33930.1	3q29	2011-04-06			ENSG00000182899	ENSG00000182899		"""L ribosomal proteins"""	10345	protein-coding gene	gene with protein product		180468				1577483, 8786106	Standard	NM_000996		Approved	L35A	uc003fyr.3	P18077	OTTHUMG00000155386	ENST00000464167.1:c.142G>A	3.37:g.197678160G>A	ENSP00000419117:p.Ala48Thr					IQCG_uc003fyp.2_Intron|IQCG_uc003fyo.2_5'Flank|IQCG_uc003fyq.3_5'Flank|RPL35A_uc003fys.2_Missense_Mutation_p.A48T	p.A48T	NM_000996	NP_000987	P18077	RL35A_HUMAN	Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.182)	3	215	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	48					Q08ES9|Q9BVN7	Missense_Mutation	SNP	ENST00000464167.1	37	c.142G>A	CCDS33930.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805078	0.90623	.	.	ENSG00000182899	ENST00000464167;ENST00000448864;ENST00000442341	.	.	.	5.57	5.57	0.84162	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.76800	0.4038	M	0.82433	2.59	0.80722	D	1	P	0.37352	0.591	B	0.43445	0.42	T	0.78765	-0.2076	9	0.56958	D	0.05	-22.932	19.6125	0.95613	0.0:0.0:1.0:0.0	.	48	P18077	RL35A_HUMAN	T	48	.	ENSP00000398058:A48T	A	+	1	0	RPL35A	199162557	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.394000	0.97261	2.647000	0.89833	0.650000	0.86243	GCT		0.403	RPL35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339788.1		NM_000996		29	85	0	0	0	0.050027	0	29	85		
PDE6B	5158	broad.mit.edu	37	4	656971	656971	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:656971G>A	ENST00000496514.1	+	15	1936	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	PDE6B_ENST00000429163.2_Missense_Mutation_p.E360K|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.E639K			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	639					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.E639K(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CCTGCTCTCGGAGGAGGTTGG	0.622																																					GBM(71;463 1194 9848 25922 46834)	uc003gap.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1915-1917)GAG>AAG		phosphodiesterase 6B isoform 1							118.0	102.0	107.0					4																	656971		2203	4300	6503	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:656971G>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1915G>A	4.37:g.656971G>A	ENSP00000420295:p.Glu639Lys					PDE6B_uc003gao.3_Missense_Mutation_p.E639K|PDE6B_uc011buy.1_Missense_Mutation_p.E360K|PDE6B_uc011buz.1_Missense_Mutation_p.E71K	p.E639K	NM_000283	NP_000274	P35913	PDE6B_HUMAN			15	1968	+			639					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.1915G>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489391	0.64074	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	D;D;D	0.81579	-1.51;-1.51;-1.51	4.19	4.19	0.49359	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.366568	0.30320	N	0.009894	T	0.73783	0.3631	L	0.38692	1.165	0.58432	D	0.999995	B;B	0.19445	0.004;0.036	B;B	0.25405	0.043;0.06	T	0.72527	-0.4266	10	0.52906	T	0.07	.	14.0267	0.64590	0.0:0.0:1.0:0.0	.	639;639	P35913;P35913-2	PDE6B_HUMAN;.	K	639;639;360	ENSP00000255622:E639K;ENSP00000420295:E639K;ENSP00000406334:E360K	ENSP00000255622:E639K	E	+	1	0	PDE6B	646971	1.000000	0.71417	0.887000	0.34795	0.376000	0.30014	8.818000	0.91991	1.877000	0.54381	0.550000	0.68814	GAG		0.622	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1		NM_000283		35	74	0	0	0	0.074837	0	35	74		
TACC3	10460	broad.mit.edu	37	4	1733001	1733001	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:1733001G>C	ENST00000313288.4	+	6	1670	c.1564G>C	c.(1564-1566)Gag>Cag	p.E522Q		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	522					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E522Q(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GGAGCTGAAAGAGGAGAGCTT	0.627																																					Ovarian(120;482 2294 11894 35824)	uc003gdo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1564-1566)GAG>CAG		transforming, acidic coiled-coil containing							67.0	69.0	69.0					4																	1733001		2203	4299	6502	SO:0001583	missense	10460					centrosome		g.chr4:1733001G>C	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1564G>C	4.37:g.1733001G>C	ENSP00000326550:p.Glu522Gln					TACC3_uc010ibz.2_Missense_Mutation_p.E522Q|TACC3_uc003gdp.2_Missense_Mutation_p.E162Q|TACC3_uc010ica.2_5'UTR	p.E522Q	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		6	1672	+		Breast(71;0.212)|all_epithelial(65;0.241)	522					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.1564G>C	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.903902	0.52333	.	.	ENSG00000013810	ENST00000485989;ENST00000313288	T;T	0.50001	0.76;2.62	4.02	2.76	0.32466	.	0.497335	0.17984	N	0.155423	T	0.55194	0.1905	M	0.66939	2.045	0.09310	N	1	D;P;D	0.65815	0.991;0.557;0.995	P;B;P	0.57101	0.813;0.167;0.769	T	0.43877	-0.9364	10	0.54805	T	0.06	-14.4895	6.1157	0.20126	0.1869:0.0:0.8131:0.0	.	522;162;522	B4DYJ1;C9JWI7;Q9Y6A5	.;.;TACC3_HUMAN	Q	162;522	ENSP00000419210:E162Q;ENSP00000326550:E522Q	ENSP00000326550:E522Q	E	+	1	0	TACC3	1702799	0.964000	0.33143	0.105000	0.21289	0.271000	0.26615	1.605000	0.36815	0.898000	0.36418	0.462000	0.41574	GAG		0.627	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2				58	115	0	0	0	0.139131	0	58	115		
LETM1	3954	broad.mit.edu	37	4	1843344	1843344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:1843344C>T	ENST00000302787.2	-	3	620	c.324G>A	c.(322-324)tgG>tgA	p.W108*		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	108					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.W108*(1)		breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GCGAAGAGTGCCAGCCACGCA	0.587																																						uc003gdv.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(322-324)TGG>TGA		leucine zipper-EF-hand containing transmembrane							92.0	93.0	93.0					4																	1843344		2203	4300	6503	SO:0001587	stop_gained	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1843344C>T	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.324G>A	4.37:g.1843344C>T	ENSP00000305653:p.Trp108*					LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Nonsense_Mutation_p.W108*	p.W108*	NM_012318	NP_036450	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		3	621	-			108					B4DED2|Q9UF65	Nonsense_Mutation	SNP	ENST00000302787.2	37	c.324G>A	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182848	0.94885	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	.	.	.	4.75	4.75	0.60458	.	0.296958	0.34879	N	0.003602	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-20.8512	17.9358	0.89012	0.0:1.0:0.0:0.0	.	.	.	.	X	108;68	.	ENSP00000305653:W108X	W	-	3	0	LETM1	1813142	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	3.835000	0.55805	2.477000	0.83638	0.563000	0.77884	TGG		0.587	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1				4	122	0	0	0	0.009096	0	4	122		
LDB2	9079	broad.mit.edu	37	4	16900009	16900009	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:16900009C>T	ENST00000304523.5	-	1	423	c.100G>A	c.(100-102)Gag>Aag	p.E34K	LDB2_ENST00000502640.1_Missense_Mutation_p.E34K|LDB2_ENST00000515064.1_Missense_Mutation_p.E34K|LDB2_ENST00000441778.2_Missense_Mutation_p.E34K	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	34					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)	p.E34K(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TTGTTCATCTCATAGATTCGG	0.453																																						uc003goz.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(100-102)GAG>AAG		LIM domain binding 2 isoform a							202.0	179.0	187.0					4																	16900009		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16900009C>T	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.100G>A	4.37:g.16900009C>T	ENSP00000306772:p.Glu34Lys					LDB2_uc003gpa.2_Missense_Mutation_p.E34K|LDB2_uc003gpb.2_Missense_Mutation_p.E34K|LDB2_uc011bxh.1_Missense_Mutation_p.E34K|LDB2_uc010iee.2_Missense_Mutation_p.E34K	p.E34K	NM_001290	NP_001281	O43679	LDB2_HUMAN			1	416	-			34					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.100G>A	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782038	0.90282	.	.	ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000506732	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.76494	0.995;0.988;0.997;0.999	D;P;D;D	0.87578	0.941;0.869;0.961;0.998	D	0.83588	0.0121	9	0.72032	D	0.01	-13.2447	17.3952	0.87443	0.0:1.0:0.0:0.0	.	34;34;34;34	E9PFI4;G5E9Y7;O43679-2;O43679	.;.;.;LDB2_HUMAN	K	34;34;34;34;10	.	ENSP00000306772:E34K	E	-	1	0	LDB2	16509107	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.349000	0.79376	2.325000	0.78763	0.460000	0.39030	GAG		0.453	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2				68	76	0	0	0	0.139131	0	68	76		
SOD3	6649	broad.mit.edu	37	4	24801248	24801248	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:24801248C>T	ENST00000382120.3	+	2	310	c.105C>T	c.(103-105)atC>atT	p.I35I		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	35					removal of superoxide radicals (GO:0019430)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	copper ion binding (GO:0005507)|heparin binding (GO:0008201)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)	p.I35I(1)		prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				CGGAGTGGATCCGAGACATGT	0.697																																						uc003gqz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(103-105)ATC>ATT		superoxide dismutase 3, extracellular precursor							19.0	15.0	17.0					4																	24801248		2200	4295	6495	SO:0001819	synonymous_variant	6649				removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding	g.chr4:24801248C>T		CCDS3430.1	4p15.2	2012-09-20			ENSG00000109610	ENSG00000109610	1.15.1.1		11181	protein-coding gene	gene with protein product		185490					Standard	NM_003102		Approved	EC-SOD	uc003gqz.3	P08294	OTTHUMG00000128565	ENST00000382120.3:c.105C>T	4.37:g.24801248C>T						SOD3_uc003gqy.1_RNA	p.I35I	NM_003102	NP_003093	P08294	SODE_HUMAN			2	310	+		Breast(46;0.0503)	35					Q5U781|Q6FHA2	Silent	SNP	ENST00000382120.3	37	c.105C>T	CCDS3430.1																																																																																				0.697	SOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250416.1				3	9	0	0	0	0.115264	0	3	9		
PDGFRA	5156	broad.mit.edu	37	4	55139810	55139810	+	Missense_Mutation	SNP	G	G	A	rs563016888		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:55139810G>A	ENST00000257290.5	+	10	1802	c.1471G>A	c.(1471-1473)Gcc>Acc	p.A491T	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	491	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A491T(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGTGACTTTCGCCAAAGTGGA	0.532			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18319	0.0		0.0	False		,,,				2504	0.001				Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NaN		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - Missense(1)		urinary_tract(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(1471-1473)GCC>ACC		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						96.0	92.0	93.0					4																	55139810		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55139810G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1471G>A	4.37:g.55139810G>A	ENSP00000257290:p.Ala491Thr	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.A385T|PDGFRA_uc003ham.2_RNA	p.A491T	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		10	1802	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		491			Ig-like C2-type 5.|Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1471G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	1.638	-0.517104	0.04171	.	.	ENSG00000134853	ENST00000257290	T	0.75367	-0.93	5.6	-4.6	0.03390	Immunoglobulin-like fold (1);	0.876349	0.09267	N	0.825695	T	0.35364	0.0929	N	0.03608	-0.345	0.09310	N	1	B;P	0.41232	0.007;0.743	B;B	0.21917	0.003;0.037	T	0.41680	-0.9495	10	0.21540	T	0.41	.	5.5054	0.16850	0.2678:0.5246:0.1157:0.092	.	491;491	P16234-3;P16234	.;PGFRA_HUMAN	T	491	ENSP00000257290:A491T	ENSP00000257290:A491T	A	+	1	0	PDGFRA	54834567	0.056000	0.20664	0.001000	0.08648	0.037000	0.13140	0.271000	0.18626	-0.605000	0.05753	0.650000	0.86243	GCC		0.532	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2		NM_006206		26	131	0	0	0	0.0918	0	26	131		
AASDH	132949	broad.mit.edu	37	4	57250456	57250456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:57250456G>A	ENST00000205214.6	-	2	190	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	AASDH_ENST00000513376.1_Intron|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000602986.1_5'UTR|AASDH_ENST00000451613.1_Nonsense_Mutation_p.Q4*|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000502617.1_Nonsense_Mutation_p.Q4*	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	4					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.Q4*(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ACCAATTCCTGAAGAGTCATT	0.418																																						uc003hbn.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(4)	4						c.(10-12)CAG>TAG		aminoadipate-semialdehyde dehydrogenase							87.0	80.0	83.0					4																	57250456		2203	4300	6503	SO:0001587	stop_gained	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57250456G>A	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.10C>T	4.37:g.57250456G>A	ENSP00000205214:p.Gln4*					AASDH_uc010ihb.2_5'Flank|AASDH_uc011caa.1_5'UTR|AASDH_uc003hbo.2_Intron|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Nonsense_Mutation_p.Q4*|AASDH_uc003hbp.2_Nonsense_Mutation_p.Q4*|AASDH_uc003hbq.1_Nonsense_Mutation_p.Q4*	p.Q4*	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			2	163	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	4					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Nonsense_Mutation	SNP	ENST00000205214.6	37	c.10C>T	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	G	38	7.126452	0.98081	.	.	ENSG00000157426	ENST00000205214;ENST00000451613;ENST00000502617	.	.	.	5.92	5.92	0.95590	.	0.255682	0.47455	D	0.000240	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-5.9847	19.9294	0.97114	0.0:0.0:1.0:0.0	.	.	.	.	X	4	.	ENSP00000205214:Q4X	Q	-	1	0	AASDH	56945213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.980000	0.76160	2.822000	0.97130	0.650000	0.86243	CAG		0.418	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1		NM_181806		39	76	0	0	0	0.080422	0	39	76		
ALB	213	broad.mit.edu	37	4	74285275	74285275	+	Silent	SNP	G	G	A	rs11538206		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:74285275G>A	ENST00000503124.1	+	11	1461	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	ALB_ENST00000295897.4_Silent_p.L568L|ALB_ENST00000509063.1_Silent_p.L568L|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Silent_p.L376L|ALB_ENST00000401494.3_Silent_p.L453L			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.L568L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAGAGCAACTGAAAGCTGTTA	0.413																																						uc003hgs.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(3)	6						c.(1702-1704)CTG>CTA		albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						99.0	96.0	97.0					4																	74285275		2203	4300	6503	SO:0001819	synonymous_variant	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74285275G>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1254G>A	4.37:g.74285275G>A						ALB_uc003hgw.3_Silent_p.L376L|ALB_uc011cbe.1_Silent_p.L247L|ALB_uc003hgt.3_Silent_p.L568L|ALB_uc010iii.2_Silent_p.L453L|ALB_uc003hgu.3_Silent_p.L418L|ALB_uc003hgv.3_Silent_p.L247L|ALB_uc011cbf.1_Silent_p.L458L|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Silent_p.L247L	p.L568L	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		13	1777	+	Breast(15;0.00102)		568			Albumin 3.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000503124.1	37	c.1704G>A		.	.	.	.	.	.	.	.	.	.	G	1.662	-0.511306	0.04231	.	.	ENSG00000163631	ENST00000511370	.	.	.	6.06	3.15	0.36227	.	.	.	.	.	T	0.55862	0.1947	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49916	-0.8888	4	.	.	.	-9.5024	7.3726	0.26810	0.0704:0.2313:0.5871:0.1113	rs11538206	.	.	.	K	413	.	.	E	+	1	0	ALB	74504139	1.000000	0.71417	0.944000	0.38274	0.174000	0.22865	1.135000	0.31454	0.848000	0.35191	0.655000	0.94253	GAA		0.413	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1		NM_000477		28	104	0	0	0	0.099896	0	28	104		
G3BP2	9908	broad.mit.edu	37	4	76570708	76570708	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:76570708C>G	ENST00000359707.4	-	12	2140	c.1355G>C	c.(1354-1356)aGa>aCa	p.R452T	G3BP2_ENST00000395719.3_Missense_Mutation_p.R452T|G3BP2_ENST00000357854.3_Missense_Mutation_p.R419T	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	452	Gly-rich.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)	p.R452T(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGAGGTCCTCTTCCATCACG	0.582																																						uc003hir.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|central_nervous_system(1)	3						c.(1354-1356)AGA>ACA		Ras-GTPase activating protein SH3 domain-binding							200.0	156.0	171.0					4																	76570708		2203	4300	6503	SO:0001583	missense	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76570708C>G	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1355G>C	4.37:g.76570708C>G	ENSP00000352738:p.Arg452Thr					G3BP2_uc003his.2_Missense_Mutation_p.R452T|G3BP2_uc003hit.2_Missense_Mutation_p.R419T	p.R452T	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		12	1520	-			452			Gly-rich.		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.1355G>C	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914789	0.72983	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	D;D;D	0.85773	-2.03;-2.03;-2.03	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.92130	0.7505	M	0.65975	2.015	0.80722	D	1	D;D	0.61080	0.989;0.967	D;D	0.72625	0.978;0.916	D	0.91146	0.4949	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	419;452	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	T	452;452;419	ENSP00000379069:R452T;ENSP00000352738:R452T;ENSP00000350518:R419T	ENSP00000350518:R419T	R	-	2	0	G3BP2	76789732	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.395000	0.79876	2.941000	0.99782	0.655000	0.94253	AGA		0.582	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2		NM_012297		23	109	0	0	0	0.069288	0	23	109		
PPEF2	5470	broad.mit.edu	37	4	76781888	76781888	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:76781888C>T	ENST00000286719.7	-	17	2550	c.2194G>A	c.(2194-2196)Gat>Aat	p.D732N		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	732					detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.D732N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTGAGGCATCGCCCTCTGGG	0.512																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(2194-2196)GAT>AAT		serine/threonine protein phosphatase with							85.0	74.0	77.0					4																	76781888		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76781888C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.2194G>A	4.37:g.76781888C>T	ENSP00000286719:p.Asp732Asn					PPEF2_uc003hiy.2_RNA	p.D732N	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		17	2551	-			732					O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.2194G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	9.264	1.043874	0.19748	.	.	ENSG00000156194	ENST00000286719	T	0.39406	1.08	5.75	-11.5	0.00074	.	2.171050	0.01824	N	0.034233	T	0.17534	0.0421	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15178	-1.0446	10	0.26408	T	0.33	-11.9596	5.595	0.17321	0.0672:0.1544:0.1914:0.587	.	732	O14830	PPE2_HUMAN	N	732	ENSP00000286719:D732N	ENSP00000286719:D732N	D	-	1	0	PPEF2	77000912	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.316000	0.01123	-3.958000	0.00087	-0.186000	0.12905	GAT		0.512	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1		NM_006239		22	64	0	0	0	0.069288	0	22	64		
PTPN13	5783	broad.mit.edu	37	4	87735669	87735669	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:87735669G>C	ENST00000411767.2	+	48	7486	c.7423G>C	c.(7423-7425)Gaa>Caa	p.E2475Q	PTPN13_ENST00000436978.1_Missense_Mutation_p.E2480Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.E2480Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.E2456Q|PTPN13_ENST00000316707.6_Missense_Mutation_p.E2284Q			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2475					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.E2480Q(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAAGCAGAAGAAGAGCAAAA	0.408																																						uc003hpz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(1)|kidney(1)	6						c.(7423-7425)GAA>CAA		protein tyrosine phosphatase, non-receptor type							89.0	83.0	85.0					4																	87735669		1876	4112	5988	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87735669G>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.7423G>C	4.37:g.87735669G>C	ENSP00000407249:p.Glu2475Gln					PTPN13_uc003hpy.2_Missense_Mutation_p.E2480Q|PTPN13_uc003hqa.2_Missense_Mutation_p.E2456Q|PTPN13_uc003hqb.2_Missense_Mutation_p.E2284Q	p.E2475Q	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	48	7903	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	2475					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.7423G>C	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284320	0.80803	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.54866	0.55;0.58;0.66;0.55;0.58	5.64	5.64	0.86602	.	0.000000	0.51477	D	0.000087	T	0.65554	0.2702	L	0.35414	1.06	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.989;0.989;0.974;0.989	T	0.66752	-0.5844	10	0.72032	D	0.01	.	20.0627	0.97684	0.0:0.0:1.0:0.0	.	2284;2456;2475;2480	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	Q	2456;2480;2284;2475;2480;2424	ENSP00000408368:E2456Q;ENSP00000394794:E2480Q;ENSP00000322675:E2284Q;ENSP00000407249:E2475Q;ENSP00000426626:E2480Q	ENSP00000322675:E2284Q	E	+	1	0	PTPN13	87954693	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.112000	0.94314	2.816000	0.96949	0.563000	0.77884	GAA		0.408	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1				14	29	0	0	0	0.132662	0	14	29		
PPM1K	152926	broad.mit.edu	37	4	89199513	89199513	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:89199513T>C	ENST00000608933.1	-	2	612	c.223A>G	c.(223-225)Att>Gtt	p.I75V	PPM1K_ENST00000315194.4_Missense_Mutation_p.I75V|PPM1K_ENST00000295908.7_Missense_Mutation_p.I75V|PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000514204.1_Missense_Mutation_p.I75V|PPM1K_ENST00000508256.1_Intron	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	75					protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.I75V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GGCAGCAGAATTGGCTCATCA	0.498																																						uc003hrm.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(223-225)ATT>GTT		protein phosphatase 1K (PP2C domain containing)							88.0	85.0	86.0					4																	89199513		2203	4300	6503	SO:0001583	missense	152926				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr4:89199513T>C	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.223A>G	4.37:g.89199513T>C	ENSP00000477341:p.Ile75Val					PPM1K_uc010ikp.1_Missense_Mutation_p.I75V|PPM1K_uc003hrn.2_Missense_Mutation_p.I75V	p.I75V	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	2	613	-		Hepatocellular(203;0.114)	75					B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	c.223A>G	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.840709	0.51057	.	.	ENSG00000163644	ENST00000295908;ENST00000506423;ENST00000315194	T;T;T	0.53206	1.94;0.63;0.63	4.2	4.2	0.49525	Protein phosphatase 2C-like (1);	0.048690	0.85682	D	0.000000	T	0.65312	0.2679	M	0.69823	2.125	0.52099	D	0.999945	D;D;P	0.62365	0.987;0.991;0.944	P;D;B	0.72625	0.876;0.978;0.437	T	0.68164	-0.5481	10	0.54805	T	0.06	-15.6782	12.7192	0.57131	0.0:0.0:0.0:1.0	.	75;75;75	Q8N3J5-2;Q8N3J5-3;Q8N3J5	.;.;PPM1K_HUMAN	V	75	ENSP00000295908:I75V;ENSP00000424155:I75V;ENSP00000324761:I75V	ENSP00000295908:I75V	I	-	1	0	PPM1K	89418537	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.977000	0.70492	1.903000	0.55091	0.260000	0.18958	ATT		0.498	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4		NM_152542		31	35	0	0	0	0.125774	0	31	35		
CENPE	1062	broad.mit.edu	37	4	104103931	104103931	+	Silent	SNP	A	A	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:104103931A>C	ENST00000265148.3	-	11	1040	c.951T>G	c.(949-951)ctT>ctG	p.L317L	CENPE_ENST00000509120.1_5'Flank|CENPE_ENST00000380026.3_Silent_p.L317L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	317	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.L317L(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GGAGAGCAGTAAGTGTTTCAT	0.353																																						uc003hxb.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|breast(4)	9						c.(949-951)CTT>CTG		centromere protein E							110.0	115.0	114.0					4																	104103931		2203	4300	6503	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104103931A>C	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.951T>G	4.37:g.104103931A>C						CENPE_uc003hxc.1_Silent_p.L317L	p.L317L	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	11	1041	-			317			Kinesin-motor.		A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.951T>G	CCDS34042.1																																																																																				0.353	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					28	141	0	0	0	0.116897	0	28	141		
ARSJ	79642	broad.mit.edu	37	4	114899684	114899684	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:114899684G>C	ENST00000315366.7	-	1	1173	c.307C>G	c.(307-309)Ctt>Gtt	p.L103V	ARSJ_ENST00000541197.1_Missense_Mutation_p.L103V|ARSJ_ENST00000503013.2_5'UTR	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	103					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.L103V(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		AGCTTGTCAAGAGTAGGTGTT	0.458																																						uc003ibq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(307-309)CTT>GTT		arylsulfatase J precursor							95.0	96.0	96.0					4																	114899684		1935	4125	6060	SO:0001583	missense	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114899684G>C		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.307C>G	4.37:g.114899684G>C	ENSP00000320219:p.Leu103Val					ARSJ_uc010imu.1_Missense_Mutation_p.L103V|ARSJ_uc010imv.1_5'UTR	p.L103V	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	1	1195	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	103					A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	c.307C>G	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269102	0.59540	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.97976	-4.64;-4.64	4.34	3.49	0.39957	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	D	0.000010	D	0.98394	0.9466	M	0.85041	2.73	0.38557	D	0.949605	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99107	1.0845	10	0.66056	D	0.02	.	8.3124	0.32080	0.192:0.0:0.808:0.0	.	103;103	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	V	103	ENSP00000320219:L103V;ENSP00000438836:L103V	ENSP00000320219:L103V	L	-	1	0	ARSJ	115119133	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	2.977000	0.49297	1.025000	0.39708	0.655000	0.94253	CTT		0.458	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1		NM_024590		48	79	0	0	0	0.124865	0	48	79		
PRSS12	8492	broad.mit.edu	37	4	119203155	119203155	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:119203155G>T	ENST00000296498.3	-	13	2846	c.2564C>A	c.(2563-2565)tCt>tAt	p.S855Y	SNHG8_ENST00000384096.1_lincRNA|PRSS12_ENST00000510903.1_5'Flank	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	855	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S855Y(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AACACCAGGAGAATCCTTGAC	0.488																																						uc003ica.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(2563-2565)TCT>TAT		neurotrypsin precursor							90.0	93.0	92.0					4																	119203155		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119203155G>T	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2564C>A	4.37:g.119203155G>T	ENSP00000296498:p.Ser855Tyr						p.S855Y	NM_003619	NP_003610	P56730	NETR_HUMAN			13	2611	-			855			Peptidase S1.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.2564C>A	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205223	0.58234	.	.	ENSG00000164099	ENST00000296498	D	0.88124	-2.34	6.17	6.17	0.99709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.218867	0.49305	D	0.000150	T	0.77143	0.4087	N	0.02842	-0.48	0.43593	D	0.995949	P	0.39831	0.69	P	0.45946	0.498	T	0.76217	-0.3040	10	0.15952	T	0.53	.	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	855	P56730	NETR_HUMAN	Y	855	ENSP00000296498:S855Y	ENSP00000296498:S855Y	S	-	2	0	PRSS12	119422603	1.000000	0.71417	0.969000	0.41365	0.994000	0.84299	7.500000	0.81588	2.941000	0.99782	0.655000	0.94253	TCT		0.488	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2				22	91	1	0	2.98393e-07	0.076483	3.0983e-07	22	91		
LRBA	987	broad.mit.edu	37	4	151771938	151771938	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:151771938C>T	ENST00000357115.3	-	24	4185	c.3942G>A	c.(3940-3942)atG>atA	p.M1314I	LRBA_ENST00000507224.1_Missense_Mutation_p.M1314I|LRBA_ENST00000510413.1_Missense_Mutation_p.M1314I|LRBA_ENST00000535741.1_Missense_Mutation_p.M1314I	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1314						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.M1314I(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AACGTTGATGCATCTGAGACC	0.393																																						uc010ipj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(3)|skin(1)	7						c.(3940-3942)ATG>ATA		LPS-responsive vesicle trafficking, beach and							156.0	138.0	144.0					4																	151771938		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151771938C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.3942G>A	4.37:g.151771938C>T	ENSP00000349629:p.Met1314Ile					LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.M1314I	p.M1314I	NM_006726	NP_006717	P50851	LRBA_HUMAN			24	4416	-	all_hematologic(180;0.151)		1314			WD 1.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.3942G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857230	0.71834	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.55413	0.95;1.1;0.95;0.52	5.96	5.96	0.96718	.	0.045348	0.85682	D	0.000000	T	0.45115	0.1326	L	0.28274	0.84	0.80722	D	1	B;B	0.18166	0.016;0.026	B;B	0.23716	0.022;0.048	T	0.21415	-1.0246	10	0.24483	T	0.36	.	20.394	0.98981	0.0:1.0:0.0:0.0	.	1314;1314	P50851;P50851-2	LRBA_HUMAN;.	I	1314	ENSP00000446299:M1314I;ENSP00000421552:M1314I;ENSP00000349629:M1314I;ENSP00000422180:M1314I	ENSP00000349629:M1314I	M	-	3	0	LRBA	151991388	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.752000	0.68728	2.830000	0.97506	0.585000	0.79938	ATG		0.393	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1				17	90	0	0	0	0.146539	0	17	90		
TLR2	7097	broad.mit.edu	37	4	154625550	154625550	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:154625550C>G	ENST00000260010.6	+	1	2899	c.1491C>G	c.(1489-1491)ctC>ctG	p.L497L		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	497					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|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 oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|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)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.L497L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	ATGCCTCCCTCTTACCCATGT	0.358																																						uc003inq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|lung(1)|breast(1)	3						c.(1489-1491)CTC>CTG		toll-like receptor 2 precursor							76.0	81.0	80.0					4																	154625550		2203	4300	6503	SO:0001819	synonymous_variant	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625550C>G	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1491C>G	4.37:g.154625550C>G						TLR2_uc003inr.2_Silent_p.L497L|TLR2_uc003ins.2_Silent_p.L497L	p.L497L	NM_003264	NP_003255	O60603	TLR2_HUMAN			3	1710	+	all_hematologic(180;0.093)	Renal(120;0.117)	497			LRR 13.|Extracellular (Potential).		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Silent	SNP	ENST00000260010.6	37	c.1491C>G	CCDS3784.1																																																																																				0.358	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1				22	112	0	0	0	0.083992	0	22	112		
GRIA2	2891	broad.mit.edu	37	4	158142864	158142864	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:158142864G>A	ENST00000264426.9	+	2	413	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000393815.2_5'UTR|GRIA2_ENST00000507898.1_5'UTR|GRIA2_ENST00000449365.1_5'UTR|GRIA2_ENST00000296526.7_Missense_Mutation_p.R45Q	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	45					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R45Q(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AGTGCATTTCGAGTAGGGATG	0.507																																						uc003ipm.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(3)|ovary(1)	4						c.(133-135)CGA>CAA		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						119.0	120.0	119.0					4																	158142864		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158142864G>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.134G>A	4.37:g.158142864G>A	ENSP00000264426:p.Arg45Gln					GRIA2_uc011cit.1_5'UTR|GRIA2_uc003ipl.3_Missense_Mutation_p.R45Q|GRIA2_uc003ipk.3_5'UTR|GRIA2_uc010iqh.1_RNA	p.R45Q	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	2	593	+	all_hematologic(180;0.24)	Renal(120;0.0458)	45			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.134G>A	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203104	0.95033	.	.	ENSG00000120251	ENST00000512774;ENST00000509417;ENST00000296526;ENST00000264426	T;T;T	0.22134	1.97;1.97;1.97	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.955;0.996	T	0.45542	-0.9254	10	0.87932	D	0	.	18.9863	0.92771	0.0:0.0:1.0:0.0	.	45;45	P42262;P42262-2	GRIA2_HUMAN;.	Q	45	ENSP00000425217:R45Q;ENSP00000296526:R45Q;ENSP00000264426:R45Q	ENSP00000264426:R45Q	R	+	2	0	GRIA2	158362314	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.587000	0.98229	2.580000	0.87095	0.555000	0.69702	CGA		0.507	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2				36	130	0	0	0	0.080422	0	36	130		
PDLIM3	27295	broad.mit.edu	37	4	186425667	186425667	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:186425667C>G	ENST00000284770.5	-	7	940	c.867G>C	c.(865-867)caG>caC	p.Q289H	PDLIM3_ENST00000284771.6_Missense_Mutation_p.Q241H|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	289					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)	p.Q289H(1)|p.Q241H(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GCGGCATCCTCTGTGCCCCGC	0.507																																						uc003ixw.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(865-867)CAG>CAC		PDZ and LIM domain protein 3 isoform a							69.0	61.0	63.0					4																	186425667		2203	4300	6503	SO:0001583	missense	27295					sarcomere	zinc ion binding	g.chr4:186425667C>G	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.867G>C	4.37:g.186425667C>G	ENSP00000284770:p.Gln289His					PDLIM3_uc003ixx.3_Missense_Mutation_p.Q241H|PDLIM3_uc010isi.2_RNA	p.Q289H	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	7	991	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	289					B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	c.867G>C	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.578932	0.28180	.	.	ENSG00000154553	ENST00000284770;ENST00000284771	T;T	0.44083	0.93;0.93	5.53	2.85	0.33270	.	0.099352	0.64402	D	0.000001	T	0.38612	0.1047	M	0.66297	2.02	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.15484	0.011;0.013	T	0.31392	-0.9945	10	0.56958	D	0.05	-9.0465	7.8617	0.29514	0.0:0.6758:0.119:0.2052	.	241;289	Q53GG5-2;Q53GG5	.;PDLI3_HUMAN	H	289;241	ENSP00000284770:Q289H;ENSP00000284771:Q241H	ENSP00000284770:Q289H	Q	-	3	2	PDLIM3	186662661	0.997000	0.39634	0.846000	0.33378	0.052000	0.14988	0.511000	0.22739	0.824000	0.34613	0.655000	0.94253	CAG		0.507	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2		NM_014476		15	59	0	0	0	0.0333	0	15	59		
MED10	84246	broad.mit.edu	37	5	6378552	6378552	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:6378552G>A	ENST00000255764.3	-	1	155	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	15					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.F15F(1)		kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						TGTTCTCCACGAACTTCTCCA	0.652																																						uc003jdo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(43-45)TTC>TTT		mediator complex subunit 10							110.0	93.0	99.0					5																	6378552		2203	4300	6503	SO:0001819	synonymous_variant	84246				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr5:6378552G>A		CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398			28760	protein-coding gene	gene with protein product	"""NUT2 homolog (S. cerevisiae)"""	612382	"""mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)"""			15657623, 15175163	Standard	NM_032286		Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.45C>T	5.37:g.6378552G>A							p.F15F	NM_032286	NP_115662	Q9BTT4	MED10_HUMAN			1	88	-			15					C6G491	Silent	SNP	ENST00000255764.3	37	c.45C>T	CCDS34134.1																																																																																				0.652	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365714.1		NM_032286		23	14	0	0	0	0.076483	0	23	14		
ADAMTS12	81792	broad.mit.edu	37	5	33614349	33614349	+	Missense_Mutation	SNP	C	C	T	rs377412848		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:33614349C>T	ENST00000504830.1	-	16	2856	c.2521G>A	c.(2521-2523)Ggg>Agg	p.G841R	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G756R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	841	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G841R(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCACCTGTCCCGCAGGTCACA	0.507										HNSCC(64;0.19)																												uc003jia.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2521-2523)GGG>AGG		ADAM metallopeptidase with thrombospondin type 1		C	ARG/GLY	0,4406		0,0,2203	140.0	98.0	112.0		2521	5.7	1.0	5		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS12	NM_030955.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	841/1595	33614349	1,13005	2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33614349C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2521G>A	5.37:g.33614349C>T	ENSP00000422554:p.Gly841Arg	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.G756R	p.G841R	NM_030955	NP_112217	P58397	ATS12_HUMAN			16	2684	-			841			TSP type-1 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2521G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184425	0.94885	0.0	1.16E-4	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.70749	-0.51;-0.51	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.91246	0.7241	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93528	0.6867	10	0.49607	T	0.09	.	19.5024	0.95100	0.0:1.0:0.0:0.0	.	756;841	P58397-3;P58397	.;ATS12_HUMAN	R	841;756	ENSP00000422554:G841R;ENSP00000344847:G756R	ENSP00000344847:G756R	G	-	1	0	ADAMTS12	33650106	1.000000	0.71417	0.989000	0.46669	0.879000	0.50718	7.790000	0.85794	2.699000	0.92147	0.561000	0.74099	GGG		0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		17	34	0	0	0	0.146539	0	17	34		
HCN1	348980	broad.mit.edu	37	5	45262237	45262237	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:45262237G>A	ENST00000303230.4	-	8	2516	c.2459C>T	c.(2458-2460)aCg>aTg	p.T820M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	820					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.T820M(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGGACCGCCGTCACGGGTTG	0.677																																						uc003jok.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|haematopoietic_and_lymphoid_tissue(1)	ovary(1)	1						c.(2458-2460)ACG>ATG		hyperpolarization activated cyclic							31.0	32.0	32.0					5																	45262237		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262237G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2459C>T	5.37:g.45262237G>A	ENSP00000307342:p.Thr820Met						p.T820M	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2484	-			820			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2459C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	9.166	1.020019	0.19433	.	.	ENSG00000164588	ENST00000303230	D	0.97505	-4.41	5.02	4.15	0.48705	.	0.990042	0.08217	N	0.979843	D	0.92410	0.7591	N	0.14661	0.345	0.09310	N	1	B	0.33904	0.431	B	0.26202	0.067	D	0.86061	0.1532	10	0.62326	D	0.03	.	11.5869	0.50923	0.0877:0.0:0.9123:0.0	.	820	O60741	HCN1_HUMAN	M	820	ENSP00000307342:T820M	ENSP00000307342:T820M	T	-	2	0	HCN1	45297994	1.000000	0.71417	0.003000	0.11579	0.701000	0.40568	5.083000	0.64456	1.253000	0.44018	0.655000	0.94253	ACG		0.677	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1		NM_021072		36	37	0	0	0	0.074837	0	36	37		
GPR98	84059	broad.mit.edu	37	5	89948215	89948215	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:89948215T>C	ENST00000405460.2	+	19	3565	c.3469T>C	c.(3469-3471)Ttt>Ctt	p.F1157L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1157	Calx-beta 9. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.F1157L(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGCAGCTCTTTCAGAATGA	0.373																																						uc003kju.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(3469-3471)TTT>CTT		G protein-coupled receptor 98 precursor							163.0	155.0	157.0					5																	89948215		1911	4143	6054	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89948215T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3469T>C	5.37:g.89948215T>C	ENSP00000384582:p.Phe1157Leu					GPR98_uc003kjt.2_5'UTR	p.F1157L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	19	3565	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1157			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.3469T>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	31|31	5.071532|5.071532	0.93950|0.93950	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|T	0.26067|0.30182	1.76|1.54	6.08|6.08	4.92|4.92	0.64577|0.64577	.|.	0.044629|.	0.85682|.	N|.	0.000000|.	T|T	0.42291|0.42291	0.1196|0.1196	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	D|.	0.61080|.	0.989|.	P|.	0.53549|.	0.729|.	T|T	0.30880|0.30880	-0.9963|-0.9963	10|7	0.72032|0.72032	D|D	0.01|0.01	.|.	11.9484|11.9484	0.52940|0.52940	0.0:0.0672:0.0:0.9328|0.0:0.0672:0.0:0.9328	.|.	1157|.	Q8WXG9|.	GPR98_HUMAN|.	L|P	1157|745	ENSP00000384582:F1157L|ENSP00000424736:L745P	ENSP00000296619:F1157L|ENSP00000424736:L745P	F|L	+|+	1|2	0|0	GPR98|GPR98	89983971|89983971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.084000|6.084000	0.71335|0.71335	1.129000|1.129000	0.42072|0.42072	0.482000|0.482000	0.46254|0.46254	TTT|CTT		0.373	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		21	116	0	0	0	0.125774	0	21	116		
PCDHA7	56141	broad.mit.edu	37	5	140215250	140215250	+	Missense_Mutation	SNP	C	C	T	rs566217489		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:140215250C>T	ENST00000525929.1	+	1	1282	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	PCDHA7_ENST00000378125.3_Missense_Mutation_p.R428W|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R428W(6)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTACCGCGCGGGACGGGGG	0.617																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NaN																	6	Substitution - Missense(6)		lung(4)|urinary_tract(2)	ovary(2)|skin(2)	4						c.(1282-1284)CGG>TGG		protocadherin alpha 7 isoform 1 precursor							94.0	98.0	97.0					5																	140215250		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215250C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1282C>T	5.37:g.140215250C>T	ENSP00000436426:p.Arg428Trp					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R428W	p.R428W	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1282	+			428			Cadherin 4.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1282C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	5.766	0.325666	0.10900	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01804	4.63;4.63	4.04	-2.34	0.06704	Cadherin (5);Cadherin-like (1);	0.000000	0.29417	U	0.012219	T	0.02494	0.0076	L	0.31845	0.965	0.09310	N	1	P;P	0.43885	0.631;0.82	B;P	0.49276	0.136;0.605	T	0.33650	-0.9860	10	0.66056	D	0.02	.	10.9804	0.47490	0.5789:0.3132:0.1079:0.0	.	428;428	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	W	428	ENSP00000436426:R428W;ENSP00000367365:R428W	ENSP00000367365:R428W	R	+	1	2	PCDHA7	140195434	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-0.979000	0.03774	-0.350000	0.08262	0.305000	0.20034	CGG		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2		NM_018910		43	99	0	0	0	0.139131	0	43	99		
PCDHA13	56136	broad.mit.edu	37	5	140263524	140263524	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:140263524C>T	ENST00000289272.2	+	1	1671	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.D557D|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D557D(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.697																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1669-1671)GAC>GAT		protocadherin alpha 13 isoform 1 precursor							64.0	71.0	68.0					5																	140263524		2203	4297	6500	SO:0001819	synonymous_variant	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263524C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1671C>T	5.37:g.140263524C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.D557D|PCDHA13_uc003lid.2_Silent_p.D557D	p.D557D	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1671	+			557			Cadherin 5.|Extracellular (Potential).		O75277	Silent	SNP	ENST00000289272.2	37	c.1671C>T	CCDS4240.1																																																																																				0.697	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1		NM_018904		67	40	0	0	0	0.139131	0	67	40		
ADRA1B	147	broad.mit.edu	37	5	159344642	159344642	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:159344642G>C	ENST00000306675.3	+	1	853	c.730G>C	c.(730-732)Gag>Cag	p.E244Q		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	244					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)	p.E244Q(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	AGTCATGAAGGAGATGTCCAA	0.527																																						uc003lxt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(730-732)GAG>CAG		alpha-1B-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						117.0	114.0	115.0					5																	159344642		2203	4300	6503	SO:0001583	missense	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344642G>C	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.730G>C	5.37:g.159344642G>C	ENSP00000306662:p.Glu244Gln						p.E244Q	NM_000679	NP_000670	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	903	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	244			Cytoplasmic (By similarity).		B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	c.730G>C	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191517	0.58017	.	.	ENSG00000170214	ENST00000306675	T	0.37584	1.19	5.93	5.93	0.95920	GPCR, rhodopsin-like superfamily (1);	0.098161	0.64402	D	0.000001	T	0.46014	0.1371	L	0.42686	1.345	0.48830	D	0.99971	B	0.29716	0.255	B	0.43194	0.411	T	0.38779	-0.9645	10	0.62326	D	0.03	.	18.9177	0.92512	0.0:0.0:1.0:0.0	.	244	P35368	ADA1B_HUMAN	Q	244	ENSP00000306662:E244Q	ENSP00000306662:E244Q	E	+	1	0	ADRA1B	159277220	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GAG		0.527	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1				75	23	0	0	0	0.139131	0	75	23		
ZNF354B	117608	broad.mit.edu	37	5	178310385	178310385	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:178310385C>T	ENST00000322434.3	+	5	1158	c.932C>T	c.(931-933)tCt>tTt	p.S311F	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S311F(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTCGAAGGTCTGGGCTTTTT	0.418																																						uc003mjl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(931-933)TCT>TTT		zinc finger protein 354B							63.0	64.0	64.0					5																	178310385		2203	4300	6503	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310385C>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.932C>T	5.37:g.178310385C>T	ENSP00000327143:p.Ser311Phe					ZNF354B_uc003mjm.2_Missense_Mutation_p.S311F	p.S311F	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1158	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	311			C2H2-type 4.		A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.932C>T	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	C	8.086	0.773445	0.16051	.	.	ENSG00000178338	ENST00000322434	T	0.37058	1.22	3.62	2.69	0.31865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39682	0.1087	M	0.87038	2.855	0.09310	N	1	B	0.34349	0.45	B	0.30179	0.112	T	0.46582	-0.9181	9	0.72032	D	0.01	-15.1514	6.4687	0.21995	0.2025:0.6:0.1974:0.0	.	311	Q96LW1	Z354B_HUMAN	F	311	ENSP00000327143:S311F	ENSP00000327143:S311F	S	+	2	0	ZNF354B	178242991	0.000000	0.05858	0.799000	0.32177	0.149000	0.21700	0.106000	0.15354	1.855000	0.53841	0.561000	0.74099	TCT		0.418	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1		NM_058230		18	34	0	0	0	0.0333	0	18	34		
ZNF184	7738	broad.mit.edu	37	6	27420988	27420988	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:27420988G>A	ENST00000211936.6	-	6	634	c.350C>T	c.(349-351)tCt>tTt	p.S117F	ZNF184_ENST00000377419.1_Missense_Mutation_p.S117F	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S117F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTCTTCTTCAGAAATGTCAGG	0.373																																						uc003njj.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|kidney(1)	ovary(1)	1						c.(349-351)TCT>TTT		zinc finger protein 184							67.0	71.0	70.0					6																	27420988		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420988G>A	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.350C>T	6.37:g.27420988G>A	ENSP00000211936:p.Ser117Phe					ZNF184_uc010jqv.2_Missense_Mutation_p.S117F|ZNF184_uc003nji.2_Missense_Mutation_p.S117F	p.S117F	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	1161	-			117					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.350C>T	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506904	0.26949	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.07908	3.15;3.15	5.33	5.33	0.75918	.	0.594916	0.15330	N	0.268090	T	0.02156	0.0067	L	0.28344	0.845	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38156	-0.9674	10	0.09590	T	0.72	.	14.3911	0.66978	0.0:0.0:1.0:0.0	.	117	Q99676	ZN184_HUMAN	F	117	ENSP00000211936:S117F;ENSP00000366636:S117F	ENSP00000211936:S117F	S	-	2	0	ZNF184	27528967	0.688000	0.27680	0.309000	0.25155	0.930000	0.56654	2.157000	0.42320	2.771000	0.95319	0.561000	0.74099	TCT		0.373	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1		NM_007149		44	119	0	0	0	0.117977	0	44	119		
GTPBP2	54676	broad.mit.edu	37	6	43593965	43593965	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:43593965C>G	ENST00000307126.5	-	3	395	c.396G>C	c.(394-396)gaG>gaC	p.E132D	GTPBP2_ENST00000307114.7_Missense_Mutation_p.E44D|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3			GTP binding protein 2									p.E132D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AAGCATACTTCTCTGCCATCC	0.592																																					GBM(116;405 1620 28302 32150 44768)	uc003ovs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	liver(1)|skin(1)	2						c.(394-396)GAG>GAC		GTP binding protein 2							71.0	69.0	70.0					6																	43593965		2203	4300	6503	SO:0001583	missense	54676						GTP binding|GTPase activity	g.chr6:43593965C>G	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.396G>C	6.37:g.43593965C>G	ENSP00000303997:p.Glu132Asp					GTPBP2_uc010jyv.2_Missense_Mutation_p.E44D|GTPBP2_uc003ovt.1_Missense_Mutation_p.E132D	p.E132D	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		3	433	-	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		132						Missense_Mutation	SNP	ENST00000307126.5	37	c.396G>C	CCDS4903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.21|14.21	2.468056|2.468056	0.43839|0.43839	.|.	.|.	ENSG00000172432|ENSG00000172432	ENST00000307126;ENST00000307114;ENST00000452781|ENST00000442748	T;T;T|.	0.46819|.	1.48;1.48;0.86|.	5.12|5.12	4.15|4.15	0.48705|0.48705	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44726|0.44726	0.1307|0.1307	L|L	0.46157|0.46157	1.445|1.445	0.47994|0.47994	D|D	0.999568|0.999568	B;B|.	0.25105|.	0.03;0.118|.	B;B|.	0.24541|.	0.009;0.054|.	T|T	0.39210|0.39210	-0.9625|-0.9625	10|5	0.30078|.	T|.	0.28|.	-18.4992|-18.4992	11.5401|11.5401	0.50661|0.50661	0.0:0.9092:0.0:0.0908|0.0:0.9092:0.0:0.0908	.|.	124;132|.	Q9BX10-4;Q9BX10|.	.;GTPB2_HUMAN|.	D|T	132;44;124|98	ENSP00000303997:E132D;ENSP00000304893:E44D;ENSP00000410676:E124D|.	ENSP00000304893:E44D|.	E|R	-|-	3|2	2|0	GTPBP2|GTPBP2	43701943|43701943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	1.798000|1.798000	0.38814|0.38814	0.985000|0.985000	0.38656|0.38656	0.555000|0.555000	0.69702|0.69702	GAG|AGA		0.592	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1				32	107	0	0	0	0.059317	0	32	107		
SLC25A27	9481	broad.mit.edu	37	6	46644165	46644165	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:46644165G>C	ENST00000371347.5	+	9	1198	c.946G>C	c.(946-948)Gag>Cag	p.E316Q	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA|SLC25A27_ENST00000452689.2_Missense_Mutation_p.E230Q|SLC25A27_ENST00000411689.2_Intron	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	316					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.E316Q(1)		central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			AAAAATCAGAGAGATGAGTGG	0.368																																						uc003oyh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(946-948)GAG>CAG		solute carrier family 25, member 27							130.0	120.0	123.0					6																	46644165		1847	4092	5939	SO:0001583	missense	9481				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		g.chr6:46644165G>C	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"""Solute carriers"""	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.946G>C	6.37:g.46644165G>C	ENSP00000360398:p.Glu316Gln					SLC25A27_uc011dwb.1_Intron|SLC25A27_uc003oyg.2_Intron|SLC25A27_uc011dwc.1_Missense_Mutation_p.E230Q|SLC25A27_uc003oyi.2_Missense_Mutation_p.E246Q	p.E316Q	NM_004277	NP_004268	O95847	UCP4_HUMAN	Lung(136;0.192)		9	1197	+			316			Solcar 3.		F5GWR4|Q5VTS9|Q8N518	Missense_Mutation	SNP	ENST00000371347.5	37	c.946G>C	CCDS43470.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086257	0.36855	.	.	ENSG00000153291	ENST00000371347;ENST00000452689	T;T	0.79653	-1.29;-1.29	5.72	0.646	0.17789	Mitochondrial carrier domain (1);	0.630431	0.14846	N	0.294968	T	0.41743	0.1172	N	0.16266	0.395	0.30511	N	0.76947	B;B;B	0.18310	0.015;0.027;0.027	B;B;B	0.22152	0.026;0.038;0.038	T	0.10314	-1.0635	10	0.49607	T	0.09	-4.389	1.2873	0.02053	0.2291:0.2835:0.3417:0.1457	.	230;316;316	B4DZG4;Q5VTS9;O95847	.;.;UCP4_HUMAN	Q	316;230	ENSP00000360398:E316Q;ENSP00000412223:E230Q	ENSP00000360398:E316Q	E	+	1	0	SLC25A27	46752124	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.409000	0.34680	0.754000	0.32968	0.591000	0.81541	GAG		0.368	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1		NM_004277		29	43	0	0	0	0.144211	0	29	43		
PAQR8	85315	broad.mit.edu	37	6	52268632	52268632	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:52268632C>T	ENST00000442253.2	+	2	795	c.621C>T	c.(619-621)gtC>gtT	p.V207V	PAQR8_ENST00000360726.3_Silent_p.V207V	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	207					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.V207V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CTTATCCAGTCATGAGGAAGA	0.547																																						uc003pao.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(619-621)GTC>GTT		progestin and adipoQ receptor family member							106.0	100.0	102.0					6																	52268632		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268632C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.621C>T	6.37:g.52268632C>T							p.V207V	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN			2	795	+	Lung NSC(77;0.0875)		207			Extracellular (Potential).		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.621C>T	CCDS4941.1																																																																																				0.547	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2		NM_133367		48	51	0	0	0	0.139131	0	48	51		
BCLAF1	9774	broad.mit.edu	37	6	136599241	136599241	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:136599241G>C	ENST00000531224.1	-	4	1030	c.778C>G	c.(778-780)Cag>Gag	p.Q260E	BCLAF1_ENST00000530767.1_Missense_Mutation_p.Q260E|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q258E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q260E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q258E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q258E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	260					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q260E(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGTGAATGCTGAGAAGGAGTA	0.443																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(778-780)CAG>GAG		BCL2-associated transcription factor 1 isoform							134.0	126.0	129.0					6																	136599241		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599241G>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.778C>G	6.37:g.136599241G>C	ENSP00000435210:p.Gln260Glu					BCLAF1_uc003qgw.1_Missense_Mutation_p.Q260E|BCLAF1_uc003qgy.1_Missense_Mutation_p.Q258E|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Q258E	p.Q260E	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	1031	-	Colorectal(23;0.24)		260					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.778C>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560718	0.27827	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000007	T	0.02380	0.0073	N	0.08118	0	0.80722	D	1	B;B;B;B	0.15473	0.007;0.013;0.007;0.007	B;B;B;B	0.12156	0.004;0.007;0.004;0.004	T	0.26155	-1.0111	10	0.02654	T	1	-3.762	15.569	0.76320	0.0:0.1372:0.8628:0.0	.	258;258;260;260	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	E	260;258;260;260;258;258;260	ENSP00000435210:Q260E;ENSP00000229446:Q258E;ENSP00000435441:Q260E;ENSP00000436501:Q260E;ENSP00000434826:Q258E;ENSP00000376159:Q258E;ENSP00000431734:Q260E	ENSP00000229446:Q258E	Q	-	1	0	BCLAF1	136640934	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.235000	0.65348	2.754000	0.94517	0.650000	0.86243	CAG		0.443	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2		NM_014739		10	71	0	0	0	0.058154	0	10	71		
WTAP	9589	broad.mit.edu	37	6	160174506	160174506	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:160174506A>G	ENST00000358372.4	+	7	2224	c.467A>G	c.(466-468)aAg>aGg	p.K156R	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	156					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.K156R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		ACAGGGAAAAAGTTAATGGCG	0.423																																						uc003qsl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(466-468)AAG>AGG		Wilms' tumour 1-associating protein isoform 1							119.0	113.0	115.0					6																	160174506		2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160174506A>G	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.467A>G	6.37:g.160174506A>G	ENSP00000351141:p.Lys156Arg					WTAP_uc003qso.2_Missense_Mutation_p.K37R	p.K156R	NM_004906	NP_004897	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	7	689	+		Breast(66;0.000776)|Ovarian(120;0.0303)	156					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.467A>G	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052982	0.55218	.	.	ENSG00000146457	ENST00000358372	T	0.49432	0.78	5.87	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.16257	0.0391	N	0.02202	-0.64	0.80722	D	1	D;P	0.65815	0.995;0.621	P;B	0.57468	0.821;0.404	T	0.19353	-1.0308	10	0.02654	T	1	-0.589	12.7499	0.57302	0.8769:0.0:0.0:0.1231	.	156;156	A8K489;Q15007	.;FL2D_HUMAN	R	156	ENSP00000351141:K156R	ENSP00000351141:K156R	K	+	2	0	WTAP	160094496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.313000	0.96297	1.130000	0.42092	0.533000	0.62120	AAG		0.423	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1		NM_152857		7	65	0	0	0	0.02938	0	7	65		
TNRC18	84629	broad.mit.edu	37	7	5352441	5352441	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:5352441G>A	ENST00000430969.1	-	27	8429	c.8081C>T	c.(8080-8082)tCc>tTc	p.S2694F	TNRC18_ENST00000399537.4_Missense_Mutation_p.S2694F	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2694							chromatin binding (GO:0003682)	p.S2694F(2)|p.P1207S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGCCTGCGCGGAAGGGCCAGC	0.716																																						uc003soi.3		NaN																	3	Substitution - Missense(3)		urinary_tract(3)		0						c.(8080-8082)TCC>TTC		trinucleotide repeat containing 18							6.0	8.0	7.0					7																	5352441		1542	3517	5059	SO:0001583	missense	84629						DNA binding	g.chr7:5352441G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8081C>T	7.37:g.5352441G>A	ENSP00000395538:p.Ser2694Phe						p.S2694F	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8430	-		Ovarian(82;0.142)	2694					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.8081C>T	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.350|8.350	0.830738|0.830738	0.16820|0.16820	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399544|ENST00000399537;ENST00000430969	.|T;T	.|0.05925	.|3.37;3.37	4.54|4.54	4.54|4.54	0.55810|0.55810	.|.	1.615210|.	0.04354|.	N|.	0.356163|.	T|T	0.12092|0.12092	0.0294|0.0294	L|L	0.43152|0.43152	1.355|1.355	0.23314|0.23314	N|N	0.997926|0.997926	.|D	.|0.56968	.|0.978	.|P	.|0.49012	.|0.598	T|T	0.08827|0.08827	-1.0703|-1.0703	7|9	0.87932|0.51188	D|T	0|0.08	.|.	17.2362|17.2362	0.86999|0.86999	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2694	.|O15417	.|TNC18_HUMAN	S|F	1207|2694	.|ENSP00000382452:S2694F;ENSP00000395538:S2694F	ENSP00000382459:P1207S|ENSP00000382452:S2694F	P|S	-|-	1|2	0|0	TNRC18|TNRC18	5318967|5318967	0.997000|0.997000	0.39634|0.39634	0.011000|0.011000	0.14972|0.14972	0.001000|0.001000	0.01503|0.01503	3.743000|3.743000	0.55104|0.55104	2.022000|2.022000	0.59522|0.59522	0.484000|0.484000	0.47621|0.47621	CCG|TCC		0.716	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					5	13	0	0	0	0.014758	0	5	13		
EPDR1	54749	broad.mit.edu	37	7	37960368	37960368	+	5'UTR	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:37960368C>T	ENST00000199448.4	+	0	206				EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000559325.1_Missense_Mutation_p.R63C|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000476620.1_Intron	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)	p.R63C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						TACCGGGACTCGCGCGTCCGG	0.672																																						uc003tfp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)	1						c.(187-189)CGC>TGC		ependymin related protein 1 precursor							18.0	26.0	23.0					7																	37960368		2201	4293	6494	SO:0001623	5_prime_UTR_variant	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37960368C>T	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-174C>T	7.37:g.37960368C>T						EPDR1_uc003tfq.2_Missense_Mutation_p.R63C|EPDR1_uc010kxh.2_5'Flank	p.R63C	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN			1	206	+			Error:Variant_position_missing_in_Q9UM22_after_alignment					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.187C>T	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738309	0.30774	.	.	ENSG00000086289	ENST00000199448;ENST00000423717	.	.	.	4.26	-3.17	0.05202	.	.	.	.	.	T	0.16171	0.0389	N	0.08118	0	0.09310	N	0.999996	B	0.09022	0.002	B	0.04013	0.001	T	0.22312	-1.0220	8	0.62326	D	0.03	.	5.8781	0.18840	0.1339:0.2174:0.5569:0.0918	.	63	A4D1W8	.	C	63;37	.	ENSP00000199448:R63C	R	+	1	0	EPDR1	37926893	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.157000	0.01282	-0.391000	0.07763	-0.499000	0.04595	CGC		0.672	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3		NM_017549		29	13	0	0	0	0.080422	0	29	13		
ZMIZ2	83637	broad.mit.edu	37	7	44796036	44796036	+	Silent	SNP	C	C	T	rs201213111		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:44796036C>T	ENST00000309315.4	+	3	186	c.63C>T	c.(61-63)ttC>ttT	p.F21F	ZMIZ2_ENST00000441627.1_Silent_p.F21F|ZMIZ2_ENST00000413916.1_Silent_p.F21F|ZMIZ2_ENST00000433667.1_Silent_p.F21F|ZMIZ2_ENST00000265346.7_Silent_p.F21F	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	21					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.F21F(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATGGTTCATTCGCATATGAGT	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19930	0.0		0.0	False		,,,				2504	0.0				NSCLC(20;604 852 1948 16908 50522)	uc003tlr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(61-63)TTC>TTT		zinc finger, MIZ-type containing 2 isoform 1							80.0	84.0	82.0					7																	44796036		2144	4247	6391	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44796036C>T	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.63C>T	7.37:g.44796036C>T						ZMIZ2_uc003tlq.2_Silent_p.F21F|ZMIZ2_uc003tls.2_Silent_p.F21F	p.F21F	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			3	186	+			21					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.63C>T	CCDS43576.1																																																																																				0.577	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1		NM_031449		80	46	0	0	0	0.139131	0	80	46		
HIP1	3092	broad.mit.edu	37	7	75203167	75203167	+	Missense_Mutation	SNP	G	G	C	rs368324123		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:75203167G>C	ENST00000336926.6	-	8	670	c.644C>G	c.(643-645)aCg>aGg	p.T215R	HIP1_ENST00000434438.2_Missense_Mutation_p.T215R	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	215					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.T215R(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCCTGCTGCCGTCACGGACAC	0.547			T	PDGFRB	CMML																																	uc003uds.1		NaN		Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(643-645)ACG>AGG		huntingtin interacting protein 1							69.0	71.0	70.0					7																	75203167		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75203167G>C	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.644C>G	7.37:g.75203167G>C	ENSP00000336747:p.Thr215Arg					HIP1_uc011kfz.1_Missense_Mutation_p.T92R	p.T215R	NM_005338	NP_005329	O00291	HIP1_HUMAN			8	685	-			215					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.644C>G	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220140	0.79464	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.28069	1.63;1.63	5.67	5.67	0.87782	ANTH (1);	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.60073	-0.7334	10	0.66056	D	0.02	-25.9202	18.7514	0.91818	0.0:0.0:1.0:0.0	.	215;215	E7ES17;O00291	.;HIP1_HUMAN	R	215	ENSP00000336747:T215R;ENSP00000410300:T215R	ENSP00000336747:T215R	T	-	2	0	HIP1	75041103	1.000000	0.71417	0.877000	0.34402	0.455000	0.32408	4.925000	0.63425	2.680000	0.91292	0.591000	0.81541	ACG		0.547	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2		NM_005338		6	97	0	0	0	0.021553	0	6	97		
SEMA3C	10512	broad.mit.edu	37	7	80374329	80374329	+	Missense_Mutation	SNP	G	G	A	rs199571544		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:80374329G>A	ENST00000265361.3	-	18	2698	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	SEMA3C_ENST00000419255.2_Missense_Mutation_p.R713W|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R731W	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	713					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R713G(1)|p.R713W(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGTTGCTGCCGAGTGTCTTTG	0.483																																						uc003uhj.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|NS(1)	ovary(1)	1						c.(2137-2139)CGG>TGG		semaphorin 3C precursor							150.0	134.0	140.0					7																	80374329		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80374329G>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.2137C>T	7.37:g.80374329G>A	ENSP00000265361:p.Arg713Trp					SEMA3C_uc011kgw.1_Missense_Mutation_p.R731W	p.R713W	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			18	2699	-			713					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.2137C>T	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884909	0.33255	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.26223	1.75;1.75;1.75	5.43	3.55	0.40652	.	0.183845	0.45361	D	0.000377	T	0.13157	0.0319	N	0.24115	0.695	0.80722	D	1	B;B	0.12630	0.006;0.003	B;B	0.10450	0.005;0.002	T	0.08597	-1.0714	10	0.02654	T	1	.	9.2112	0.37320	0.0752:0.0:0.6689:0.2559	.	731;713	F5H1Z7;Q99985	.;SEM3C_HUMAN	W	713;713;731	ENSP00000265361:R713W;ENSP00000411193:R713W;ENSP00000445649:R731W	ENSP00000265361:R713W	R	-	1	2	SEMA3C	80212265	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.854000	0.39368	1.306000	0.44926	0.557000	0.71058	CGG		0.483	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1		NM_006379		39	161	0	0	0	0.080422	0	39	161		
CDK6	1021	broad.mit.edu	37	7	92462586	92462586	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:92462586C>T	ENST00000265734.4	-	2	463	c.52G>A	c.(52-54)Gag>Aag	p.E18K	CDK6_ENST00000491250.1_5'Flank|CDK6_ENST00000424848.2_Missense_Mutation_p.E18K	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	18	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.E18K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCCCCGATCTCCGCCACGCAT	0.716			T	MLLT10	ALL																																	uc011khw.1		NaN		Dom	yes		7	7q21-q22	1021	T	cyclin-dependent kinase 6			L	MLLT10		ALL		1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(52-54)GAG>AAG		cyclin-dependent kinase 6							24.0	17.0	19.0					7																	92462586		2193	4290	6483	SO:0001583	missense	1021				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:92462586C>T		CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.52G>A	7.37:g.92462586C>T	ENSP00000265734:p.Glu18Lys					CDK6_uc010lez.2_Missense_Mutation_p.E18K	p.E18K	NM_001259	NP_001250	Q00534	CDK6_HUMAN	STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		2	464	-	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		18			Protein kinase.		A4D1G0	Missense_Mutation	SNP	ENST00000265734.4	37	c.52G>A	CCDS5628.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143790	0.57044	.	.	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.63417	-0.04;-0.04	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	N	0.02721	-0.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54050	-0.8351	10	0.02654	T	1	-2.4137	19.3835	0.94546	0.0:1.0:0.0:0.0	.	18	Q00534	CDK6_HUMAN	K	18	ENSP00000265734:E18K;ENSP00000397087:E18K	ENSP00000265734:E18K	E	-	1	0	CDK6	92300522	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.686000	0.84128	2.586000	0.87340	0.557000	0.71058	GAG		0.716	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2				16	13	0	0	0	0.0333	0	16	13		
SAMD9	54809	broad.mit.edu	37	7	92732940	92732940	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:92732940C>G	ENST00000379958.2	-	3	2740	c.2471G>C	c.(2470-2472)cGa>cCa	p.R824P		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	824						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.R824P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTTCATATCGAATGTACTT	0.358																																						uc003umf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(2470-2472)CGA>CCA		sterile alpha motif domain containing 9							66.0	67.0	67.0					7																	92732940		2203	4298	6501	SO:0001583	missense	54809					cytoplasm		g.chr7:92732940C>G	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2471G>C	7.37:g.92732940C>G	ENSP00000369292:p.Arg824Pro					SAMD9_uc003umg.2_Missense_Mutation_p.R824P	p.R824P	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2727	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		824					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.2471G>C	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	5.537	0.283927	0.10458	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.24538	1.85;2.67	4.44	2.45	0.29901	.	0.257740	0.23690	U	0.045527	T	0.24353	0.0590	M	0.70595	2.14	0.20703	N	0.999869	B	0.10296	0.003	B	0.12156	0.007	T	0.19877	-1.0292	10	0.49607	T	0.09	.	4.9493	0.14006	0.1733:0.619:0.0:0.2078	.	824	Q5K651	SAMD9_HUMAN	P	824	ENSP00000369292:R824P;ENSP00000414529:R824P	ENSP00000369292:R824P	R	-	2	0	SAMD9	92570876	0.008000	0.16893	0.961000	0.40146	0.929000	0.56500	0.214000	0.17541	1.093000	0.41377	-0.192000	0.12808	CGA		0.358	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1		NM_017654		26	119	0	0	0	0.083992	0	26	119		
SLC26A3	1811	broad.mit.edu	37	7	107423661	107423661	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:107423661C>G	ENST00000340010.5	-	9	1292	c.1108G>C	c.(1108-1110)Gat>Cat	p.D370H	SLC26A3_ENST00000422236.2_Missense_Mutation_p.D335H	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	370					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.D370H(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGATTGCCATCAAGTGGATAA	0.423																																						uc003ver.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(1108-1110)GAT>CAT		solute carrier family 26, member 3							105.0	98.0	100.0					7																	107423661		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107423661C>G	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1108G>C	7.37:g.107423661C>G	ENSP00000345873:p.Asp370His					SLC26A3_uc003ves.2_Missense_Mutation_p.D335H	p.D370H	NM_000111	NP_000102	P40879	S26A3_HUMAN			9	1319	-			370						Missense_Mutation	SNP	ENST00000340010.5	37	c.1108G>C	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098738	0.56183	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.94828	-3.53;-3.53	5.49	3.7	0.42460	Sulphate transporter (1);	0.134693	0.64402	D	0.000003	D	0.96935	0.8999	M	0.86420	2.815	0.52099	D	0.999942	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.982	D	0.96364	0.9268	10	0.87932	D	0	.	9.3989	0.38420	0.0:0.7835:0.0:0.2165	.	335;370	G5E9U3;P40879	.;S26A3_HUMAN	H	335;370	ENSP00000415817:D335H;ENSP00000345873:D370H	ENSP00000345873:D370H	D	-	1	0	SLC26A3	107210897	0.712000	0.27916	0.992000	0.48379	0.531000	0.34715	1.153000	0.31676	0.802000	0.34089	0.655000	0.94253	GAT		0.423	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1		NM_000111		68	77	0	0	0	0.139131	0	68	77		
DOCK4	9732	broad.mit.edu	37	7	111508111	111508111	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:111508111C>T	ENST00000437633.1	-	22	2465	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	DOCK4_ENST00000428084.1_Missense_Mutation_p.E737K|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	737					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.E737K(1)|p.E725K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ATGAGAAGCTCCTGAATGCAG	0.433																																						uc003vfx.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(2209-2211)GAG>AAG		dedicator of cytokinesis 4							59.0	62.0	61.0					7																	111508111		1884	4110	5994	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111508111C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2209G>A	7.37:g.111508111C>T	ENSP00000404179:p.Glu737Lys					DOCK4_uc003vfw.2_Missense_Mutation_p.E178K|DOCK4_uc003vfy.2_Missense_Mutation_p.E737K|DOCK4_uc003vga.1_Missense_Mutation_p.E342K	p.E737K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			22	2478	-		Acute lymphoblastic leukemia(1;0.0441)	737					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.2209G>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626477	0.96671	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.03358	3.96;3.96	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	M	0.62723	1.935	0.80722	D	1	P;P;P;P	0.51449	0.945;0.945;0.94;0.93	P;P;P;P	0.51135	0.459;0.546;0.621;0.66	T	0.01468	-1.1347	10	0.35671	T	0.21	.	20.0822	0.97779	0.0:1.0:0.0:0.0	.	737;737;737;737	Q149N2;Q149N5;Q8N1I0;Q8N1I0-2	.;.;DOCK4_HUMAN;.	K	725;737;737;725;736	ENSP00000410746:E737K;ENSP00000404179:E737K	ENSP00000345432:E725K	E	-	1	0	DOCK4	111295347	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.826000	0.97356	0.563000	0.77884	GAG		0.433	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4		NM_014705		9	42	0	0	0	0.058154	0	9	42		
TPK1	27010	broad.mit.edu	37	7	144245674	144245674	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:144245674C>T	ENST00000360057.3	-	8	625	c.523G>A	c.(523-525)Gac>Aac	p.D175N	TPK1_ENST00000549981.1_Missense_Mutation_p.D58N|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000378099.3_Missense_Mutation_p.D126N|TPK1_ENST00000538212.2_Missense_Mutation_p.D121N	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	175					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)	p.D175N(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATTCCAGTGTCTACATGCAAC	0.473																																					Ovarian(45;88 1034 2073 5829 28455)	uc003weq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(523-525)GAC>AAC		thiamin pyrophosphokinase 1 isoform a	Thiamine(DB00152)						194.0	158.0	170.0					7																	144245674		2203	4300	6503	SO:0001583	missense	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144245674C>T	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.523G>A	7.37:g.144245674C>T	ENSP00000353165:p.Asp175Asn					TPK1_uc003weo.2_Missense_Mutation_p.D121N|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.D126N|TPK1_uc003wes.2_RNA	p.D175N	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN			8	626	-			175					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.523G>A	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	C	6.718	0.501131	0.12822	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000549981	T;T;D;T	0.96104	-1.0;-1.0;-3.91;-1.0	5.95	2.07	0.26955	Thiamin pyrophosphokinase, vitamin B1-binding domain (3);	0.244847	0.49916	N	0.000127	D	0.85301	0.5665	N	0.04746	-0.17	0.31762	N	0.633217	B;B;B	0.18166	0.004;0.0;0.026	B;B;B	0.20577	0.004;0.002;0.03	T	0.76812	-0.2821	10	0.12766	T	0.61	-14.5429	7.0493	0.25063	0.0:0.6368:0.0:0.3632	.	126;175;121	F5GZG6;Q9H3S4;Q6ZQX6	.;TPK1_HUMAN;.	N	175;121;126;58	ENSP00000353165:D175N;ENSP00000438813:D121N;ENSP00000367339:D126N;ENSP00000448698:D58N	ENSP00000353165:D175N	D	-	1	0	TPK1	143876607	0.737000	0.28175	0.374000	0.26016	0.555000	0.35460	0.864000	0.27926	0.380000	0.24823	0.563000	0.77884	GAC		0.473	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1		NM_022445		33	148	0	0	0	0.050027	0	33	148		
INTS9	55756	broad.mit.edu	37	8	28633422	28633422	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr8:28633422C>T	ENST00000521022.1	-	14	1498	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	INTS9_ENST00000521070.1_5'Flank|INTS9_ENST00000397363.4_Missense_Mutation_p.E367K|INTS9_ENST00000416984.2_Missense_Mutation_p.E452K|INTS9_ENST00000521777.1_Missense_Mutation_p.E449K	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	473					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)		p.E473K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GTGTACTGCTCAGGACACACC	0.622																																						uc003xha.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|pancreas(1)	2						c.(1417-1419)GAG>AAG		integrator complex subunit 9 isoform 1							43.0	38.0	40.0					8																	28633422		2203	4300	6503	SO:0001583	missense	55756				snRNA processing	integrator complex	protein binding	g.chr8:28633422C>T	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1417G>A	8.37:g.28633422C>T	ENSP00000429065:p.Glu473Lys					INTS9_uc011lav.1_Missense_Mutation_p.E449K|INTS9_uc011law.1_Missense_Mutation_p.E452K|INTS9_uc011lax.1_Missense_Mutation_p.E366K|INTS9_uc010lvc.2_RNA	p.E473K	NM_018250	NP_060720	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	14	1716	-		Ovarian(32;0.0439)	473					B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	c.1417G>A	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767802	0.90020	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363	T;T;T;T	0.49139	0.8;0.79;0.8;0.81	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	M	0.73962	2.25	0.80722	D	1	P;P	0.43542	0.65;0.81	B;P	0.45753	0.256;0.492	T	0.65207	-0.6224	10	0.66056	D	0.02	-25.9482	18.5174	0.90939	0.0:1.0:0.0:0.0	.	452;473	B7Z6M5;Q9NV88	.;INT9_HUMAN	K	473;452;317;449;367	ENSP00000429065:E473K;ENSP00000398208:E452K;ENSP00000430943:E449K;ENSP00000380520:E367K	ENSP00000380520:E367K	E	-	1	0	INTS9	28689341	1.000000	0.71417	0.994000	0.49952	0.607000	0.37147	7.735000	0.84939	2.376000	0.81061	0.557000	0.71058	GAG		0.622	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1		NM_018250		24	56	0	0	0	0.0918	0	24	56		
VPS13B	157680	broad.mit.edu	37	8	100833675	100833675	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr8:100833675G>C	ENST00000358544.2	+	50	9334	c.9223G>C	c.(9223-9225)Gaa>Caa	p.E3075Q	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E3050Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3075					protein transport (GO:0015031)			p.E3050Q(1)|p.E3075Q(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGTTGATACTGAAATAAGACT	0.418																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(9223-9225)GAA>CAA		vacuolar protein sorting 13B isoform 5							255.0	236.0	242.0					8																	100833675		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100833675G>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9223G>C	8.37:g.100833675G>C	ENSP00000351346:p.Glu3075Gln					VPS13B_uc003yiw.2_Missense_Mutation_p.E3050Q	p.E3075Q	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		50	9334	+	Breast(36;3.73e-07)		3075					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.9223G>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195025	0.58017	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.79352	-1.26;-1.26	5.76	5.76	0.90799	.	0.112601	0.64402	D	0.000014	T	0.66470	0.2792	L	0.27053	0.805	0.80722	D	1	P;P	0.47106	0.867;0.89	B;B	0.41619	0.361;0.343	T	0.65582	-0.6133	10	0.28530	T	0.3	.	13.202	0.59774	0.0723:0.0:0.9277:0.0	.	3050;3075	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Q	3050;3075	ENSP00000349685:E3050Q;ENSP00000351346:E3075Q	ENSP00000349685:E3050Q	E	+	1	0	VPS13B	100902851	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	8.061000	0.89467	2.713000	0.92767	0.655000	0.94253	GAA		0.418	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		22	146	0	0	0	0.076483	0	22	146		
UBR5	51366	broad.mit.edu	37	8	103335546	103335546	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr8:103335546C>T	ENST00000520539.1	-	14	2383	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	UBR5_ENST00000521922.1_Missense_Mutation_p.E587K|UBR5_ENST00000220959.4_Missense_Mutation_p.E593K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	593					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.E593K(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TACTTAGCTTCAGTAGTTTTG	0.368																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(1777-1779)GAA>AAA		ubiquitin protein ligase E3 component n-recognin							112.0	100.0	104.0					8																	103335546		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103335546C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1777G>A	8.37:g.103335546C>T	ENSP00000429084:p.Glu593Lys					UBR5_uc003yks.1_Missense_Mutation_p.E593K	p.E593K	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		14	1810	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		593					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.1777G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770496	0.69992	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.43688	0.94;0.94;0.94	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.26048	0.0635	N	0.22421	0.69	0.80722	D	1	P;P	0.47762	0.9;0.9	B;B	0.33339	0.162;0.162	T	0.11743	-1.0575	10	0.09843	T	0.71	.	19.7602	0.96311	0.0:1.0:0.0:0.0	.	587;593	E7EMW7;O95071	.;UBR5_HUMAN	K	593;593;587	ENSP00000429084:E593K;ENSP00000220959:E593K;ENSP00000427819:E587K	ENSP00000220959:E593K	E	-	1	0	UBR5	103404722	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	7.814000	0.86154	2.661000	0.90470	0.591000	0.81541	GAA		0.368	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902		7	54	0	0	0	0.047766	0	7	54		
TG	7038	broad.mit.edu	37	8	133906095	133906095	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr8:133906095G>A	ENST00000220616.4	+	11	2962	c.2922G>A	c.(2920-2922)ccG>ccA	p.P974P	TG_ENST00000377869.1_Silent_p.P974P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	974	Thyroglobulin type-1 8. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.P974P(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCCTTCCTCCGCTCTTCCCGC	0.602																																						uc003ytw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(2920-2922)CCG>CCA		thyroglobulin precursor							88.0	83.0	85.0					8																	133906095		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133906095G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2922G>A	8.37:g.133906095G>A							p.P974P	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	11	2963	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	974			Thyroglobulin type-1 8.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.2922G>A	CCDS34944.1																																																																																				0.602	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		NM_003235		31	168	0	0	0	0.144211	0	31	168		
VLDLR	7436	broad.mit.edu	37	9	2652927	2652927	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:2652927C>G	ENST00000382100.3	+	18	2920	c.2564C>G	c.(2563-2565)tCt>tGt	p.S855C	VLDLR_ENST00000382099.2_Missense_Mutation_p.S827C	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	855					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.S855C(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CACAGTGCTTCTGTTGGACAC	0.448																																						uc003zhk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2563-2565)TCT>TGT		very low density lipoprotein receptor isoform a							166.0	144.0	152.0					9																	2652927		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2652927C>G		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.2564C>G	9.37:g.2652927C>G	ENSP00000371532:p.Ser855Cys					VLDLR_uc003zhl.1_Missense_Mutation_p.S827C|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.S786C	p.S855C	NM_003383	NP_003374	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	18	2961	+			855			Cytoplasmic (Potential).		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.2564C>G	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583448	0.65992	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	T;T	0.72835	-0.69;-0.69	5.58	4.67	0.58626	.	0.258372	0.27986	N	0.017046	T	0.78304	0.4262	L	0.46157	1.445	0.47065	D	0.9993	D;D;D	0.76494	0.999;0.999;0.996	D;P;P	0.66716	0.946;0.885;0.847	T	0.80243	-0.1463	10	0.72032	D	0.01	.	13.6535	0.62325	0.2818:0.7182:0.0:0.0	.	827;827;855	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	C	855;827;734	ENSP00000371532:S855C;ENSP00000371531:S827C	ENSP00000371524:S734C	S	+	2	0	VLDLR	2642927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.949000	0.56668	1.453000	0.47775	0.591000	0.81541	TCT		0.448	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2		NM_003383		72	81	0	0	0	0.139131	0	72	81		
ERCC6L2	375748	broad.mit.edu	37	9	98690414	98690414	+	Silent	SNP	C	C	G	rs200839216		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:98690414C>G	ENST00000288985.7	+	10	1925	c.1620C>G	c.(1618-1620)ctC>ctG	p.L540L	ERCC6L2_ENST00000437817.1_Silent_p.L351L|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	540	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)	p.L540L(1)									aagttcttctcttttcttttt	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		16689	0.0		0.001	False		,,,				2504	0.0					uc004avt.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1618-1620)CTC>CTG		RAD26L hypothetical protein							128.0	125.0	126.0					9																	98690414		2202	4299	6501	SO:0001819	synonymous_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98690414C>G	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1620C>G	9.37:g.98690414C>G						C9orf102_uc010mrx.1_Intron|C9orf102_uc011lum.1_Silent_p.L242L|C9orf102_uc010mry.1_Silent_p.L242L|C9orf102_uc010mrz.2_Silent_p.L351L|C9orf102_uc004avu.2_Intron	p.L540L	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN			10	2008	+		Acute lymphoblastic leukemia(62;0.0559)	540			Helicase C-terminal.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Silent	SNP	ENST00000288985.7	37	c.1620C>G	CCDS35072.1																																																																																				0.373	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2		NM_001010895		25	42	0	0	0	0.0918	0	25	42		
CORO2A	7464	broad.mit.edu	37	9	100888882	100888882	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:100888882C>G	ENST00000343933.5	-	11	1652	c.1395G>C	c.(1393-1395)ctG>ctC	p.L465L	CORO2A_ENST00000375077.4_Silent_p.L465L	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	465					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)	p.L465L(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AGCCATTTGTCAGCCAGGTTT	0.567																																						uc004ayl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(1393-1395)CTG>CTC		coronin, actin binding protein, 2A							138.0	143.0	142.0					9																	100888882		2203	4300	6503	SO:0001819	synonymous_variant	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100888882C>G	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.1395G>C	9.37:g.100888882C>G						CORO2A_uc004aym.2_Silent_p.L465L|CORO2A_uc004ayk.2_Silent_p.L112L	p.L465L	NM_003389	NP_003380	Q92828	COR2A_HUMAN			11	1661	-		Acute lymphoblastic leukemia(62;0.0559)	465					Q5TBR5|Q92829|Q9BWS5	Silent	SNP	ENST00000343933.5	37	c.1395G>C	CCDS6735.1																																																																																				0.567	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1		NM_003389		64	152	0	0	0	0.139131	0	64	152		
SVEP1	79987	broad.mit.edu	37	9	113213596	113213596	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:113213596G>A	ENST00000401783.2	-	23	4210	c.3874C>T	c.(3874-3876)Cgt>Tgt	p.R1292C	SVEP1_ENST00000302728.8_Missense_Mutation_p.R1292C|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.R1269C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1292	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.R1292C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATGTGCAACGATAGCCAGCC	0.373																																						uc010mtz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)	7						c.(3874-3876)CGT>TGT		polydom							123.0	123.0	123.0					9																	113213596		1960	4168	6128	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113213596G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3874C>T	9.37:g.113213596G>A	ENSP00000384917:p.Arg1292Cys					SVEP1_uc010mua.1_Missense_Mutation_p.R1292C	p.R1292C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			23	4211	-			1292			EGF-like 3; calcium-binding (Potential).		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.3874C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.558020	0.27827	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	D;D;D	0.92595	-3.07;-3.07;-2.31	4.53	2.53	0.30540	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.644998	0.16532	N	0.210336	D	0.94394	0.8197	M	0.92923	3.36	0.19300	N	0.999973	D;D	0.67145	0.996;0.971	P;P	0.51101	0.659;0.657	D	0.87724	0.2575	10	0.51188	T	0.08	.	8.1415	0.31086	0.0817:0.306:0.6123:0.0	.	1292;1292	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	C	1292;1269;1292	ENSP00000384917:R1292C;ENSP00000363593:R1269C;ENSP00000304118:R1292C	ENSP00000304118:R1292C	R	-	1	0	SVEP1	112253417	0.556000	0.26538	0.102000	0.21198	0.312000	0.27988	1.469000	0.35343	0.374000	0.24650	0.460000	0.39030	CGT		0.373	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					30	14	0	0	0	0.134883	0	30	14		
NUP188	23511	broad.mit.edu	37	9	131721315	131721315	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:131721315G>C	ENST00000372577.2	+	8	508	c.487G>C	c.(487-489)Gat>Cat	p.D163H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	163					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.D163H(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGACTGTGTTGATAAATTGGA	0.289																																						uc004bws.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(487-489)GAT>CAT		nucleoporin 188kDa							79.0	78.0	78.0					9																	131721315		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131721315G>C	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.487G>C	9.37:g.131721315G>C	ENSP00000361658:p.Asp163His						p.D163H	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			8	509	+			163					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.487G>C	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241573	0.58995	.	.	ENSG00000095319	ENST00000372577	T	0.35048	1.33	5.37	5.37	0.77165	.	0.191952	0.56097	D	0.000035	T	0.30572	0.0769	N	0.08118	0	0.38597	D	0.950569	P	0.42941	0.794	P	0.46585	0.521	T	0.38866	-0.9641	10	0.72032	D	0.01	-0.1331	18.4695	0.90767	0.0:0.0:1.0:0.0	.	163	Q5SRE5	NU188_HUMAN	H	163	ENSP00000361658:D163H	ENSP00000361658:D163H	D	+	1	0	NUP188	130761136	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.942000	0.70203	2.658000	0.90341	0.591000	0.81541	GAT		0.289	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2				29	45	0	0	0	0.116897	0	29	45		
FNBP1	23048	broad.mit.edu	37	9	132658259	132658259	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:132658259C>T	ENST00000446176.2	-	16	1890	c.1704G>A	c.(1702-1704)acG>acA	p.T568T	FNBP1_ENST00000443566.2_Silent_p.T196T|FNBP1_ENST00000355681.3_Silent_p.T539T|FNBP1_ENST00000420781.1_Silent_p.T559T	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	568	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.T568T(1)					Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CTACGGAAATCGTTCCTTCAT	0.443			T	MLL	AML																																	uc004byw.1		NaN		Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1702-1704)ACG>ACA		formin binding protein 1							115.0	107.0	109.0					9																	132658259		1962	4160	6122	SO:0001819	synonymous_variant	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132658259C>T	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1704G>A	9.37:g.132658259C>T						FNBP1_uc011mbv.1_Silent_p.T558T|FNBP1_uc011mbw.1_Silent_p.T563T|FNBP1_uc004bza.2_Silent_p.T502T|FNBP1_uc004byz.1_Silent_p.T539T|FNBP1_uc004byv.1_5'Flank|FNBP1_uc011mbu.1_Silent_p.T196T|FNBP1_uc004byx.1_Silent_p.T484T|FNBP1_uc004byy.1_Silent_p.T474T	p.T568T	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	16	1923	-		Ovarian(14;0.000536)	568			Required for self-association and induction of membrane tubulation.|Interaction with FASLG.|SH3.|Interaction with PDE6G (By similarity).|Interaction with DNM1 and DNM3.|Required for interaction with TNKS.|Interaction with DNM2 and WASL.|Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Silent	SNP	ENST00000446176.2	37	c.1704G>A	CCDS48040.1	.	.	.	.	.	.	.	.	.	.	C	0.989	-0.694708	0.03303	.	.	ENSG00000187239	ENST00000449089	.	.	.	5.1	-1.44	0.08856	.	.	.	.	.	T	0.38983	0.1061	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31052	-0.9957	4	.	.	.	-40.6069	0.8439	0.01156	0.249:0.1111:0.2319:0.408	.	.	.	.	Q	520	.	.	R	-	2	0	FNBP1	131698080	1.000000	0.71417	0.784000	0.31847	0.190000	0.23558	0.841000	0.27613	0.027000	0.15297	-1.186000	0.01703	CGA		0.443	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2				22	49	0	0	0	0.0918	0	22	49		
DDX31	64794	broad.mit.edu	37	9	135545428	135545428	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:135545428G>A	ENST00000372159.3	-	1	360	c.209C>T	c.(208-210)cCc>cTc	p.P70L	DDX31_ENST00000372153.1_Missense_Mutation_p.P70L|DDX31_ENST00000310532.2_Missense_Mutation_p.P70L|GTF3C4_ENST00000372146.4_5'UTR|DDX31_ENST00000544003.1_5'Flank|GTF3C4_ENST00000483873.2_5'UTR|DDX31_ENST00000480876.1_5'UTR	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	70						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.P70L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GCCCCTTCCGGGTCCGGAACG	0.761																																						uc004cbq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(208-210)CCC>CTC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							4.0	4.0	4.0					9																	135545428		1946	3771	5717	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135545428G>A	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.209C>T	9.37:g.135545428G>A	ENSP00000361232:p.Pro70Leu					DDX31_uc010mzu.1_Missense_Mutation_p.P70L|DDX31_uc004cbr.1_Missense_Mutation_p.P70L|DDX31_uc004cbs.1_Missense_Mutation_p.P70L|GTF3C4_uc010mzv.2_5'Flank|GTF3C4_uc010mzw.2_5'Flank	p.P70L	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	1	361	-			70					Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.209C>T	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029622	0.54790	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000310532	T;T;T	0.08720	3.89;3.43;3.06	2.75	0.593	0.17478	.	.	.	.	.	T	0.04861	0.0131	N	0.19112	0.55	0.80722	D	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.08055	0.003;0.002;0.001	T	0.33266	-0.9875	9	0.62326	D	0.03	.	4.1333	0.10159	0.4864:0.0:0.5136:0.0	.	70;70;70	Q9H8H2-2;Q9H8H2-3;Q9H8H2	.;.;DDX31_HUMAN	L	70	ENSP00000361232:P70L;ENSP00000361226:P70L;ENSP00000310539:P70L	ENSP00000310539:P70L	P	-	2	0	DDX31	134535249	0.019000	0.18553	0.967000	0.41034	0.293000	0.27360	0.402000	0.20965	0.120000	0.18254	0.462000	0.41574	CCC		0.761	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1		NM_138620		2	1	0	0	0	0.115264	0	2	1		
RXRA	6256	broad.mit.edu	37	9	137300844	137300844	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:137300844G>A	ENST00000481739.1	+	4	541	c.489G>A	c.(487-489)gtG>gtA	p.V163V	RXRA_ENST00000540193.1_Silent_p.V66V|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	163					camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)	p.V163V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	AGCGGACGGTGCGCAAGGACC	0.642																																						uc004cfb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(487-489)GTG>GTA		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						130.0	106.0	114.0					9																	137300844		2203	4300	6503	SO:0001819	synonymous_variant	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137300844G>A	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.489G>A	9.37:g.137300844G>A						RXRA_uc004cfc.1_Silent_p.V66V	p.V163V	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	4	651	+			163			Nuclear receptor.		B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	c.489G>A	CCDS35172.1																																																																																				0.642	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1		NM_002957		64	32	0	0	0	0.139131	0	64	32		
NOTCH1	4851	broad.mit.edu	37	9	139391498	139391498	+	Silent	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:139391498G>C	ENST00000277541.6	-	34	6768	c.6693C>G	c.(6691-6693)ctC>ctG	p.L2231L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2231					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K2182fs*61(1)|p.L2232L(1)|p.S2163_T2283del(1)|p.L2231L(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGGTGGTTGAGGGGCACGG	0.721			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NaN		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		4	Substitution - coding silent(2)|Deletion - Frameshift(1)|Deletion - In frame(1)		urinary_tract(2)|haematopoietic_and_lymphoid_tissue(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(6691-6693)CTC>CTG		notch1 preproprotein							26.0	32.0	30.0					9																	139391498		2128	4227	6355	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139391498G>C	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6693C>G	9.37:g.139391498G>C		HNSCC(8;0.001)					p.L2231L	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	6693	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2231			Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.6693C>G	CCDS43905.1																																																																																				0.721	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1		NM_017617		12	16	0	0	0	0.11911	0	12	16		
ENTPD2	954	broad.mit.edu	37	9	139945421	139945421	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:139945421T>C	ENST00000355097.2	-	5	754	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	ENTPD2_ENST00000460614.1_5'Flank|RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000312665.5_Missense_Mutation_p.Y236C	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	236					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.Y236C(1)		endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCTGTGGGTGTAGACTCGGTA	0.632																																						uc004ckw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(706-708)TAC>TGC		ectonucleoside triphosphate diphosphohydrolase 2							76.0	59.0	64.0					9																	139945421		2201	4296	6497	SO:0001583	missense	954					integral to membrane	ATP binding	g.chr9:139945421T>C	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.707A>G	9.37:g.139945421T>C	ENSP00000347213:p.Tyr236Cys					ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Missense_Mutation_p.Y236C	p.Y236C	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	5	763	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	236			Extracellular (Potential).		O15464|Q5SPY6|Q5SPY7	Missense_Mutation	SNP	ENST00000355097.2	37	c.707A>G	CCDS7026.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786767	0.49997	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	T;T	0.18174	2.23;2.23	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.65784	-0.6084	10	0.87932	D	0	-14.7144	12.6807	0.56920	0.0:0.0:0.0:1.0	.	236;236	Q9Y5L3-2;Q9Y5L3	.;ENTP2_HUMAN	C	236	ENSP00000347213:Y236C;ENSP00000312494:Y236C	ENSP00000312494:Y236C	Y	-	2	0	ENTPD2	139065242	1.000000	0.71417	0.914000	0.36105	0.126000	0.20510	3.724000	0.54962	1.840000	0.53500	0.459000	0.35465	TAC		0.632	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1		NM_203468		6	23	0	0	0	0.105934	0	6	23		
KAL1	3730	broad.mit.edu	37	X	8507728	8507728	+	Missense_Mutation	SNP	C	C	T	rs202023212		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:8507728C>T	ENST00000262648.3	-	10	1575	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	KAL1_ENST00000481896.1_5'Flank	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	476	Fibronectin type-III 3. {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)	p.E476K(1)		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						GATGATGCCTCTGATCCGGTT	0.453													C|||	1	0.000264901	0.0	0.0	3775	,	,		13065	0.001		0.0	False		,,,				2504	0.0					uc004csf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|pancreas(1)	4						c.(1426-1428)GAG>AAG		Kallmann syndrome 1 protein precursor							140.0	100.0	114.0					X																	8507728		2203	4300	6503	SO:0001583	missense	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:8507728C>T		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.1426G>A	X.37:g.8507728C>T	ENSP00000262648:p.Glu476Lys						p.E476K	NM_000216	NP_000207	P23352	KALM_HUMAN			10	1576	-			476			Fibronectin type-III 3.		B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.1426G>A	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669313	0.47677	.	.	ENSG00000011201	ENST00000262648	T	0.75821	-0.97	3.54	3.54	0.40534	Fibronectin, type III (2);	0.056886	0.64402	U	0.000002	T	0.68879	0.3049	L	0.49126	1.545	0.39250	D	0.964012	B	0.32620	0.378	B	0.38225	0.268	T	0.65890	-0.6058	10	0.19590	T	0.45	-20.924	12.2754	0.54733	0.0:1.0:0.0:0.0	.	476	P23352	KALM_HUMAN	K	476	ENSP00000262648:E476K	ENSP00000262648:E476K	E	-	1	0	KAL1	8467728	0.988000	0.35896	0.003000	0.11579	0.010000	0.07245	2.909000	0.48758	1.517000	0.48917	0.600000	0.82982	GAG		0.453	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1		NM_000216		48	259	0	0	0	0.139131	0	48	259		
DMD	1756	broad.mit.edu	37	X	31645811	31645811	+	Missense_Mutation	SNP	T	T	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:31645811T>G	ENST00000357033.4	-	55	8402	c.8196A>C	c.(8194-8196)aaA>aaC	p.K2732N	DMD_ENST00000359836.1_Missense_Mutation_p.K272N|DMD_ENST00000378677.2_Missense_Mutation_p.K2728N|DMD_ENST00000474231.1_Missense_Mutation_p.K272N|DMD_ENST00000541735.1_Missense_Mutation_p.K272N|DMD_ENST00000343523.2_Missense_Mutation_p.K272N|DMD_ENST00000378707.3_Missense_Mutation_p.K272N	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2732					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.K2728N(1)|p.K2727N(1)|p.K2732N(1)|p.K272N(1)|p.K1391N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCATCAGCTCTTTTACTCCCT	0.433																																						uc004dda.1		NaN																	5	Substitution - Missense(5)		urinary_tract(5)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(8194-8196)AAA>AAC		dystrophin Dp427m isoform							101.0	86.0	91.0					X																	31645811		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31645811T>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8196A>C	X.37:g.31645811T>G	ENSP00000354923:p.Lys2732Asn					DMD_uc004dcr.1_Missense_Mutation_p.K272N|DMD_uc004dcs.1_Missense_Mutation_p.K272N|DMD_uc004dct.1_Missense_Mutation_p.K272N|DMD_uc004dcu.1_Missense_Mutation_p.K272N|DMD_uc004dcv.1_Missense_Mutation_p.K272N|DMD_uc004dcw.2_Missense_Mutation_p.K1388N|DMD_uc004dcx.2_Missense_Mutation_p.K1391N|DMD_uc004dcz.2_Missense_Mutation_p.K2609N|DMD_uc004dcy.1_Missense_Mutation_p.K2728N|DMD_uc004ddb.1_Missense_Mutation_p.K2724N	p.K2732N	NM_004006	NP_003997	P11532	DMD_HUMAN			55	8440	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2732			Spectrin 19.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.8196A>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539309	0.45176	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.81	3.46	0.39613	.	0.186274	0.24156	U	0.041023	T	0.49236	0.1545	L	0.39898	1.24	0.25062	N	0.991051	D;B;B;B;B;B;P;P;P;P	0.60575	0.988;0.055;0.055;0.324;0.324;0.409;0.464;0.464;0.549;0.493	P;B;B;B;B;B;B;B;B;B	0.59056	0.851;0.052;0.052;0.161;0.161;0.187;0.284;0.284;0.258;0.167	T	0.30650	-0.9971	10	0.40728	T	0.16	.	6.5652	0.22509	0.0:0.3023:0.0:0.6977	.	2724;2732;2728;1391;1388;272;272;272;272;272	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3	.;DMD_HUMAN;.;.;.;.;.;.;.;.	N	2724;1391;1388;428;2728;2732;272;272;2732;2609;272;272;272	ENSP00000350765:K428N;ENSP00000367948:K2728N;ENSP00000354923:K2732N;ENSP00000352894:K272N;ENSP00000340057:K272N;ENSP00000367979:K272N;ENSP00000444119:K272N;ENSP00000417123:K272N	ENSP00000340057:K272N	K	-	3	2	DMD	31555732	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.367000	0.34204	0.831000	0.34780	0.413000	0.27773	AAA		0.433	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006		15	90	0	0	0	0.049695	0	15	90		
EFHC2	80258	broad.mit.edu	37	X	44108098	44108098	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:44108098C>T	ENST00000420999.1	-	6	1006	c.923G>A	c.(922-924)gGt>gAt	p.G308D		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	308	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)	p.G308D(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TATAAAGTCACCATATGAATT	0.398																																						uc004dgb.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|ovary(2)|central_nervous_system(1)	6						c.(922-924)GGT>GAT		EF-hand domain (C-terminal) containing 2							92.0	78.0	82.0					X																	44108098		1859	4088	5947	SO:0001583	missense	80258						calcium ion binding	g.chrX:44108098C>T	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.923G>A	X.37:g.44108098C>T	ENSP00000404232:p.Gly308Asp						p.G308D	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN			7	1013	-			308			DM10 2.		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	c.923G>A	CCDS55405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.175|8.175	0.792527|0.792527	0.16258|0.16258	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000333807;ENST00000420999;ENST00000378056|ENST00000441230	T;T|.	0.73258|.	-0.73;-0.7|.	5.74|5.74	3.05|3.05	0.35203|0.35203	Uncharacterised domain DM10 (2);|.	0.333868|.	0.30036|.	N|.	0.010567|.	T|.	0.78729|.	0.4329|.	M|M	0.92649|0.92649	3.33|3.33	0.34996|0.34996	D|D	0.75551|0.75551	P|.	0.39759|.	0.687|.	B|.	0.37091|.	0.241|.	D|.	0.83482|.	0.0065|.	10|.	0.49607|.	T|.	0.09|.	-3.3414|-3.3414	9.4571|9.4571	0.38760|0.38760	0.0:0.7621:0.0:0.2379|0.0:0.7621:0.0:0.2379	.|.	308|.	Q5JST6|.	EFHC2_HUMAN|.	D|X	308;336;112|288	ENSP00000333823:G308D;ENSP00000404232:G336D|.	ENSP00000333823:G308D|.	G|W	-|-	2|3	0|0	EFHC2|EFHC2	43993042|43993042	0.946000|0.946000	0.32159|0.32159	0.001000|0.001000	0.08648|0.08648	0.012000|0.012000	0.07955|0.07955	1.673000|1.673000	0.37534|0.37534	0.222000|0.222000	0.20900|0.20900	0.600000|0.600000	0.82982|0.82982	GGT|TGG		0.398	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2		NM_025184		38	45	0	0	0	0.092188	0	38	45		
KDM6A	7403	broad.mit.edu	37	X	44938512	44938512	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:44938512C>T	ENST00000377967.4	+	20	3101	c.3060C>T	c.(3058-3060)atC>atT	p.I1020I	KDM6A_ENST00000543216.1_Silent_p.I941I|KDM6A_ENST00000382899.4_Silent_p.I1027I|KDM6A_ENST00000536777.1_Silent_p.I975I	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1020	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.I1020I(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAAAGAAAATCTGGCATTGTG	0.403			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		7	Whole gene deletion(6)|Substitution - coding silent(1)		oesophagus(2)|breast(2)|pancreas(2)|urinary_tract(1)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(3058-3060)ATC>ATT		ubiquitously transcribed tetratricopeptide							135.0	110.0	118.0					X																	44938512		2203	4300	6503	SO:0001819	synonymous_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44938512C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3060C>T	X.37:g.44938512C>T						KDM6A_uc010nhk.2_Silent_p.I986I|KDM6A_uc011mkz.1_Silent_p.I1072I|KDM6A_uc011mla.1_Silent_p.I975I|KDM6A_uc011mlb.1_Silent_p.I1027I|KDM6A_uc011mlc.1_Silent_p.I724I|KDM6A_uc011mld.1_Silent_p.I659I	p.I1020I	NM_021140	NP_066963	O15550	KDM6A_HUMAN			20	3435	+			1020					Q52LL9|Q5JVQ7	Silent	SNP	ENST00000377967.4	37	c.3060C>T	CCDS14265.1																																																																																				0.403	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		48	100	0	0	0	0.139131	0	48	100		
HUWE1	10075	broad.mit.edu	37	X	53603879	53603879	+	Silent	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:53603879T>C	ENST00000342160.3	-	43	6322	c.5865A>G	c.(5863-5865)gcA>gcG	p.A1955A	HUWE1_ENST00000262854.6_Silent_p.A1955A			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1955					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.A1818A(1)|p.A1955A(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAGCATGGTATGCAGCCAGAG	0.507																																						uc004dsp.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(5863-5865)GCA>GCG		HECT, UBA and WWE domain containing 1							92.0	70.0	77.0					X																	53603879		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53603879T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.5865A>G	X.37:g.53603879T>C						HUWE1_uc004dsn.2_Silent_p.A780A	p.A1955A	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			44	6267	-			1955					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.5865A>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415411	0.25552	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.97	-3.2	0.05156	.	.	.	.	.	T	0.39036	0.1063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31724	-0.9933	4	.	.	.	.	2.0898	0.03654	0.5288:0.1605:0.1355:0.1753	.	.	.	.	V	989	.	.	I	-	1	0	HUWE1	53620604	0.991000	0.36638	0.988000	0.46212	0.993000	0.82548	0.175000	0.16762	-0.588000	0.05882	-0.481000	0.04817	ATA		0.507	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119		45	68	0	0	0	0.139131	0	45	68		
FAM120C	54954	broad.mit.edu	37	X	54143003	54143003	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:54143003G>C	ENST00000375180.2	-	10	2343	c.2287C>G	c.(2287-2289)Ctg>Gtg	p.L763V	FAM120C_ENST00000328235.4_Missense_Mutation_p.L763V	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	763							poly(A) RNA binding (GO:0044822)	p.L763V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ATGAGCAGCAGATGGGTGGGG	0.478																																						uc004dsz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(2287-2289)CTG>GTG		hypothetical protein LOC54954							110.0	81.0	91.0					X																	54143003		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54143003G>C	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2287C>G	X.37:g.54143003G>C	ENSP00000364324:p.Leu763Val					FAM120C_uc011moh.1_Missense_Mutation_p.L763V	p.L763V	NM_017848	NP_060318	Q9NX05	F120C_HUMAN			10	2370	-			763					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.2287C>G	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762733	0.69763	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.51325	0.71;0.71	4.47	3.59	0.41128	.	0.000000	0.64402	D	0.000005	T	0.57504	0.2058	L	0.50333	1.59	0.80722	D	1	D;D	0.59767	0.986;0.982	D;D	0.64776	0.929;0.915	T	0.60449	-0.7261	10	0.72032	D	0.01	-4.9661	10.3638	0.44010	0.1037:0.0:0.8963:0.0	.	763;763	F8W881;Q9NX05	.;F120C_HUMAN	V	763	ENSP00000364324:L763V;ENSP00000329896:L763V	ENSP00000329896:L763V	L	-	1	2	FAM120C	54159728	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.501000	0.81600	1.955000	0.56771	0.523000	0.50628	CTG		0.478	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2		NM_017848		14	83	0	0	0	0.146539	0	14	83		
STARD8	9754	broad.mit.edu	37	X	67940785	67940785	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:67940785C>T	ENST00000252336.6	+	8	2201	c.1829C>T	c.(1828-1830)tCt>tTt	p.S610F	STARD8_ENST00000374599.3_Missense_Mutation_p.S690F|STARD8_ENST00000374597.3_Missense_Mutation_p.S610F	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	610	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.S610F(2)|p.S690F(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TTCCGCAAGTCTGGGGTCAAG	0.572																																						uc004dxa.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	breast(3)|ovary(2)|pancreas(1)	6						c.(1828-1830)TCT>TTT		StAR-related lipid transfer (START) domain							100.0	70.0	80.0					X																	67940785		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67940785C>T	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1829C>T	X.37:g.67940785C>T	ENSP00000252336:p.Ser610Phe					STARD8_uc004dxb.2_Missense_Mutation_p.S690F|STARD8_uc004dxc.3_Missense_Mutation_p.S610F	p.S610F	NM_014725	NP_055540	Q92502	STAR8_HUMAN			8	2201	+			610			Rho-GAP.		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.1829C>T	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605807	0.66445	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.24538	1.85;1.85;1.85	3.8	2.91	0.33838	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000002	T	0.64394	0.2594	H	0.98682	4.3	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.981;0.996	T	0.73652	-0.3915	10	0.87932	D	0	.	10.3373	0.43858	0.0:0.8027:0.1973:0.0	.	690;610	Q92502-2;Q92502	.;STAR8_HUMAN	F	610;690;610	ENSP00000252336:S610F;ENSP00000363727:S690F;ENSP00000363725:S610F	ENSP00000252336:S610F	S	+	2	0	STARD8	67857510	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.240000	0.78192	0.739000	0.32628	0.600000	0.82982	TCT		0.572	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2		NM_014725		36	39	0	0	0	0.069456	0	36	39		
MED12	9968	broad.mit.edu	37	X	70345221	70345221	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:70345221G>T	ENST00000374080.3	+	16	2279	c.2247G>T	c.(2245-2247)gaG>gaT	p.E749D	MED12_ENST00000374102.1_Missense_Mutation_p.E749D|MED12_ENST00000333646.6_Missense_Mutation_p.E749D			Q93074	MED12_HUMAN	mediator complex subunit 12	749					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.E749D(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCAGCCATGAGTGCAACCAGC	0.542			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NaN		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2245-2247)GAG>GAT		mediator complex subunit 12							53.0	57.0	55.0					X																	70345221		2189	4276	6465	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70345221G>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2247G>T	X.37:g.70345221G>T	ENSP00000363193:p.Glu749Asp					MED12_uc011mpq.1_Missense_Mutation_p.E749D|MED12_uc004dyz.2_Missense_Mutation_p.E749D|MED12_uc004dza.2_Missense_Mutation_p.E596D	p.E749D	NM_005120	NP_005111	Q93074	MED12_HUMAN			16	2446	+	Renal(35;0.156)		749					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.2247G>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	15.67	2.903112	0.52227	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.9	4.9	0.64082	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.39517	0.1081	L	0.41079	1.255	0.54753	D	0.999984	D;P;B;D	0.89917	1.0;0.918;0.248;1.0	D;P;P;D	0.91635	0.999;0.695;0.449;0.999	T	0.15636	-1.0430	10	0.18276	T	0.48	-22.9221	7.5994	0.28067	0.2459:0.0:0.7541:0.0	.	749;596;749;749	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	D	749;749;749;749;717	ENSP00000333125:E749D;ENSP00000363215:E749D;ENSP00000363193:E749D;ENSP00000414203:E717D	ENSP00000333125:E749D	E	+	3	2	MED12	70261946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.097000	0.41748	2.271000	0.75665	0.529000	0.55759	GAG		0.542	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		NM_005120		46	26	1	0	3.76525e-18	0.139131	4.08016e-18	46	26		
TAF1	6872	broad.mit.edu	37	X	70608124	70608124	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:70608124G>A	ENST00000373790.4	+	16	2513	c.2462G>A	c.(2461-2463)cGg>cAg	p.R821Q	TAF1_ENST00000449580.1_Missense_Mutation_p.R821Q|TAF1_ENST00000276072.3_Missense_Mutation_p.R842Q|TAF1_ENST00000423759.1_Missense_Mutation_p.R842Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	821	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R821Q(1)|p.R842Q(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGTAAAGATCGGCCACGGAGG	0.433																																						uc004dzu.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(2461-2463)CGG>CAG		TBP-associated factor 1 isoform 2							59.0	58.0	58.0					X																	70608124		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70608124G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2462G>A	X.37:g.70608124G>A	ENSP00000362895:p.Arg821Gln					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R842Q|TAF1_uc004dzv.3_5'UTR	p.R821Q	NM_138923	NP_620278	P21675	TAF1_HUMAN			16	2513	+	Renal(35;0.156)	all_lung(315;0.000321)	821					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.2462G>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	24.9	4.585952	0.86748	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	4.52	4.52	0.55395	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.10723	0.0262	N	0.25647	0.755	0.58432	D	0.999996	P;P	0.36010	0.532;0.476	B;B	0.34824	0.19;0.119	T	0.21415	-1.0246	10	0.16420	T	0.52	.	16.7873	0.85577	0.0:0.0:1.0:0.0	.	821;842	P21675;P21675-2	TAF1_HUMAN;.	Q	821;821;842;842	ENSP00000362895:R821Q;ENSP00000389000:R821Q;ENSP00000406549:R842Q;ENSP00000276072:R842Q	ENSP00000276072:R842Q	R	+	2	0	TAF1	70524849	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.476000	0.97823	1.966000	0.57179	0.284000	0.19432	CGG		0.433	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2		NM_004606		104	82	0	0	0	0.139131	0	104	82		
GPR174	84636	broad.mit.edu	37	X	78427144	78427144	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:78427144G>A	ENST00000276077.1	+	1	676	c.640G>A	c.(640-642)Gat>Aat	p.D214N		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D214N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						ATCACTGCAAGATAAATATCC	0.428										HNSCC(63;0.18)																												uc004edg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|central_nervous_system(1)	2						c.(640-642)GAT>AAT		putative purinergic receptor FKSG79							93.0	91.0	92.0					X																	78427144		2203	4300	6503	SO:0001583	missense	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78427144G>A	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.640G>A	X.37:g.78427144G>A	ENSP00000276077:p.Asp214Asn	HNSCC(63;0.18)					p.D214N	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			1	676	+			214			Cytoplasmic (Potential).		Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	c.640G>A	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	g	9.023	0.985428	0.18889	.	.	ENSG00000147138	ENST00000276077	T	0.35973	1.28	5.08	0.725	0.18242	GPCR, rhodopsin-like superfamily (1);	0.650422	0.15369	N	0.265958	T	0.14787	0.0357	N	0.04090	-0.28	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.16897	-1.0387	10	0.41790	T	0.15	.	4.9427	0.13975	0.3032:0.1514:0.5453:0.0	.	214	Q9BXC1	GP174_HUMAN	N	214	ENSP00000276077:D214N	ENSP00000276077:D214N	D	+	1	0	GPR174	78313800	0.997000	0.39634	0.991000	0.47740	0.873000	0.50193	1.957000	0.40392	0.015000	0.14971	0.488000	0.48403	GAT		0.428	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1		NM_032553		31	99	0	0	0	0.059317	0	31	99		
DRP2	1821	broad.mit.edu	37	X	100513302	100513302	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:100513302C>T	ENST00000395209.3	+	22	2922	c.2395C>T	c.(2395-2397)Ctc>Ttc	p.L799F	DRP2_ENST00000538510.1_Missense_Mutation_p.L799F|DRP2_ENST00000402866.1_Missense_Mutation_p.L799F|DRP2_ENST00000541709.1_Missense_Mutation_p.L721F	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	799					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.L796F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGGCAGGATTCTCCAGGGAGA	0.587																																						uc004egz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(2395-2397)CTC>TTC		dystrophin related protein 2							23.0	22.0	22.0					X																	100513302		2186	4267	6453	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100513302C>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2395C>T	X.37:g.100513302C>T	ENSP00000378635:p.Leu799Phe					DRP2_uc011mrh.1_Missense_Mutation_p.L721F	p.L799F	NM_001939	NP_001930	Q13474	DRP2_HUMAN			22	2764	+			799					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.2395C>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906213	0.72868	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	4.54	4.54	0.55810	.	0.153918	0.44902	D	0.000413	D	0.92492	0.7616	M	0.89095	3.005	0.80722	D	1	D	0.58970	0.984	P	0.49140	0.601	D	0.94194	0.7444	10	0.87932	D	0	-11.4029	15.4166	0.74974	0.0:1.0:0.0:0.0	.	799	Q13474	DRP2_HUMAN	F	799;799;721;799	ENSP00000385038:L799F;ENSP00000378635:L799F;ENSP00000444752:L721F;ENSP00000441051:L799F	ENSP00000378635:L799F	L	+	1	0	DRP2	100399958	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	7.320000	0.79064	2.085000	0.62840	0.422000	0.28245	CTC		0.587	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3		NM_001939		3	6	0	0	0	0.02938	0	3	6		
HTR2C	3358	broad.mit.edu	37	X	114141690	114141690	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:114141690C>T	ENST00000276198.1	+	6	1817	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	HTR2C_ENST00000371951.1_Silent_p.I363I|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	363					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.I363I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTTCAGGAATCAATCCTCTGG	0.398																																						uc004epu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)	3						c.(1087-1089)ATC>ATT		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						144.0	137.0	139.0					X																	114141690		2203	4300	6503	SO:0001819	synonymous_variant	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141690C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.1089C>T	X.37:g.114141690C>T						HTR2C_uc010nqc.1_Silent_p.I363I|HTR2C_uc004epv.1_3'UTR	p.I363I	NM_000868	NP_000859	P28335	5HT2C_HUMAN			6	1817	+			363			Helical; Name=7; (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	ENST00000276198.1	37	c.1089C>T	CCDS14564.1																																																																																				0.398	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1		NM_000868		139	155	0	0	0	0.139131	0	139	155		
GLUD2	2747	broad.mit.edu	37	X	120183007	120183007	+	Missense_Mutation	SNP	C	C	T	rs141237083		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:120183007C>T	ENST00000328078.1	+	1	1546	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	490					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)	p.T490M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						ATTGTACCCACGGCAGAGTTC	0.438																																						uc004eto.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(1468-1470)ACG>ATG		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)	C	MET/THR	0,3835		0,0,1632,571	155.0	126.0	136.0		1469	2.2	0.2	X	dbSNP_134	136	1,6727		0,1,2427,1872	no	missense	GLUD2	NM_012084.3	81	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging	490/559	120183007	1,10562	2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120183007C>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1469C>T	X.37:g.120183007C>T	ENSP00000327589:p.Thr490Met						p.T490M	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	1546	+			490					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1469C>T	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393945	0.25205	0.0	1.49E-4	ENSG00000182890	ENST00000328078	D	0.96365	-3.99	2.16	2.16	0.27623	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96602	0.8891	L	0.58810	1.83	0.58432	D	0.999999	D	0.76494	0.999	D	0.66084	0.941	D	0.95865	0.8886	10	0.87932	D	0	.	9.6952	0.40154	0.0:1.0:0.0:0.0	.	490	P49448	DHE4_HUMAN	M	490	ENSP00000327589:T490M	ENSP00000327589:T490M	T	+	2	0	GLUD2	120010688	1.000000	0.71417	0.185000	0.23176	0.092000	0.18411	4.965000	0.63708	1.148000	0.42385	0.413000	0.27773	ACG		0.438	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1		NM_012084		111	111	0	0	0	0.139131	0	111	111		
UTP14A	10813	broad.mit.edu	37	X	129059059	129059059	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:129059059C>G	ENST00000394422.3	+	12	1665	c.1637C>G	c.(1636-1638)cCt>cGt	p.P546R	UTP14A_ENST00000371051.5_Missense_Mutation_p.P492R|UTP14A_ENST00000425117.2_Missense_Mutation_p.P494R|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.P378R	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	546					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.P546R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AATAATCGCCCTGATGCCCCT	0.478																																						uc004euz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1636-1638)CCT>CGT		UTP14, U3 small nucleolar ribonucleoprotein,							106.0	101.0	103.0					X																	129059059		2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129059059C>G	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1637C>G	X.37:g.129059059C>G	ENSP00000377944:p.Pro546Arg					UTP14A_uc011mup.1_Missense_Mutation_p.P494R|UTP14A_uc011muq.1_Missense_Mutation_p.P492R	p.P546R	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			12	1665	+			546					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.1637C>G	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351084	0.41599	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.71	1.69	0.24217	.	0.676340	0.15558	N	0.256096	T	0.20820	0.0501	M	0.69823	2.125	0.09310	N	1	P;P;P	0.43607	0.496;0.812;0.491	B;P;B	0.49226	0.217;0.603;0.239	T	0.10359	-1.0633	10	0.19147	T	0.46	-0.458	1.7714	0.03012	0.2293:0.4515:0.1286:0.1905	.	492;494;546	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	R	494;546;492;378	ENSP00000388669:P494R;ENSP00000377944:P546R;ENSP00000360090:P492R;ENSP00000360081:P378R	ENSP00000360081:P378R	P	+	2	0	UTP14A	128886740	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	0.109000	0.15417	0.548000	0.28955	0.600000	0.82982	CCT		0.478	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1		NM_006649		165	163	0	0	0	0.139131	0	165	163		
MAGEC1	9947	broad.mit.edu	37	X	140995585	140995585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:140995585C>T	ENST00000285879.4	+	4	2681	c.2395C>T	c.(2395-2397)Cag>Tag	p.Q799*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	799								p.Q799*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGAGTCCTCAGAGTCCTCC	0.567										HNSCC(15;0.026)																												uc004fbt.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2395-2397)CAG>TAG		melanoma antigen family C, 1							130.0	141.0	137.0					X																	140995585		2203	4300	6503	SO:0001587	stop_gained	9947						protein binding	g.chrX:140995585C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2395C>T	X.37:g.140995585C>T	ENSP00000285879:p.Gln799*	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.Q799*	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2681	+	Acute lymphoblastic leukemia(192;6.56e-05)		799					A0PK03|O75451|Q8TCV4	Nonsense_Mutation	SNP	ENST00000285879.4	37	c.2395C>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	36	5.756624	0.96898	.	.	ENSG00000155495	ENST00000285879	.	.	.	1.38	-0.0203	0.13956	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.3727	0.21491	0.0:0.6913:0.3087:0.0	.	.	.	.	X	799	.	ENSP00000285879:Q799X	Q	+	1	0	MAGEC1	140823251	0.022000	0.18835	0.002000	0.10522	0.019000	0.09904	0.181000	0.16880	0.613000	0.30089	0.284000	0.19432	CAG		0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462		204	343	0	0	0	0.139131	0	204	343		
SPANXN1	494118	broad.mit.edu	37	X	144337274	144337274	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:144337274G>A	ENST00000370493.3	+	2	918	c.159G>A	c.(157-159)gcG>gcA	p.A53A		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	53								p.A53A(4)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTATTAGCGTTTTGCTACA	0.433																																						uc004fcb.2		NaN																	4	Substitution - coding silent(4)		urinary_tract(2)|prostate(2)		0						c.(157-159)GCG>GCA		SPANX-N1 protein							181.0	156.0	164.0					X																	144337274		2203	4297	6500	SO:0001819	synonymous_variant	494118							g.chrX:144337274G>A		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.159G>A	X.37:g.144337274G>A							p.A53A	NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN			2	159	+	Acute lymphoblastic leukemia(192;6.56e-05)		53						Silent	SNP	ENST00000370493.3	37	c.159G>A	CCDS35421.1																																																																																				0.433	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2		NM_001009614		88	129	0	0	0	0.139131	0	88	129		
UBL4A	8266	broad.mit.edu	37	X	153713943	153713943	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:153713943G>A	ENST00000369660.4	-	4	494	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	UBL4A_ENST00000369653.4_Splice_Site_p.R137C|UBL4A_ENST00000477777.1_5'UTR	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	137					cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)	p.R137W(1)		endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGCCAACCGTTCGATGTCG	0.602																																					Esophageal Squamous(74;88 1215 11149 34177 46777)	uc004flo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(409-411)CGG>TGG		ubiquitin-like 4							102.0	96.0	98.0					X																	153713943		2203	4300	6503	SO:0001583	missense	8266				protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity	g.chrX:153713943G>A	J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"""ubiquitin-like 4"""	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.409C>T	X.37:g.153713943G>A	ENSP00000358674:p.Arg137Trp						p.R137W	NM_014235	NP_055050	P11441	UBL4A_HUMAN			4	418	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		137					Q5HY80	Missense_Mutation	SNP	ENST00000369660.4	37	c.409C>T	CCDS14754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.86|16.86	3.238090|3.238090	0.58886|0.58886	.|.	.|.	ENSG00000102178|ENSG00000102178	ENST00000369653|ENST00000369660	T|T	0.59906|0.59502	0.23|0.26	5.35|5.35	4.48|4.48	0.54585|0.54585	.|.	0.058269|0.058269	0.64402|0.64402	D|D	0.000004|0.000004	T|T	0.72228|0.72228	0.3434|0.3434	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|P	.|0.61722	.|0.893	T|T	0.75775|0.75775	-0.3199|-0.3199	8|10	0.87932|0.87932	D|D	0|0	-18.4809|-18.4809	11.9363|11.9363	0.52876|0.52876	0.0:0.0:0.8257:0.1743|0.0:0.0:0.8257:0.1743	.|.	.|137	.|P11441	.|UBL4A_HUMAN	C|W	137|137	ENSP00000358667:R137C|ENSP00000358674:R137W	ENSP00000358667:R137C|ENSP00000358674:R137W	R|R	-|-	1|1	0|2	UBL4A|UBL4A	153367137|153367137	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.122000|0.122000	0.20287|0.20287	6.207000|6.207000	0.72159|0.72159	1.130000|1.130000	0.42092|0.42092	0.529000|0.529000	0.55759|0.55759	CGT|CGG		0.602	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037238.2		NM_014235		45	223	0	0	0	0.139131	0	45	223		
KLF5	688	broad.mit.edu	37	13	73636411	73636412	+	Frame_Shift_Ins	INS	-	-	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr13:73636411_73636412insG	ENST00000377687.4	+	2	1210_1211	c.674_675insG	c.(673-678)cagggcfs	p.QG225fs	KLF5_ENST00000539231.1_Frame_Shift_Ins_p.QG134fs|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	225					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CCTACCCAGCAGGGCCACCTGT	0.455																																						uc001vje.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(673-675)CAGfs		Kruppel-like factor 5																																				SO:0001589	frameshift_variant	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636411_73636412insG	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.677dupG	13.37:g.73636414_73636414dupG	ENSP00000366915:p.Gln225fs					KLF5_uc001vjd.2_Frame_Shift_Ins_p.Q134fs	p.Q225fs	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	998_999	+		Prostate(6;0.00187)|Breast(118;0.0735)	225					L0R3U5|L0R4T9|Q9UHP8	Frame_Shift_Ins	INS	ENST00000377687.4	37	c.674_675insG	CCDS9448.1																																																																																				0.455	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1				27	83	NaN	NaN	NaN	NaN	NaN	27	83	---	---
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-	rs199740615		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:24633132_24633134delAGC	ENST00000396864.3	+	5	828_830	c.541_543delAGC	c.(541-543)agcdel	p.S187del	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	187	Poly-Ser.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.567																																						uc001wmq.2		NaN																	0				ovary(1)	1						c.(541-543)AGCdel		interferon-stimulated transcription factor 3,				167,4097		0,167,1965						-2.5	0.0			53	342,7912		0,342,3785	no	coding	IRF9	NM_006084.4		0,509,5750	A1A1,A1R,RR		4.1434,3.9165,4.0661				509,12009				SO:0001651	inframe_deletion	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24633132_24633134delAGC	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.541_543delAGC	14.37:g.24633141_24633143delAGC	ENSP00000380073:p.Ser187del					RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_In_Frame_Del_p.S85del	p.S187del	NM_006084	NP_006075	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	5	668_670	+			187			Poly-Ser.		D3DS61	In_Frame_Del	DEL	ENST00000396864.3	37	c.541_543delAGC	CCDS9615.1																																																																																				0.567	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2				8	173	NaN	NaN	NaN	NaN	NaN	8	173	---	---
CRYBA2	1412	broad.mit.edu	37	2	219857870	219857884	+	In_Frame_Del	DEL	GCCGGGCCCGGCGCG	GCCGGGCCCGGCGCG	-	rs141631259	byFrequency	TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:219857870_219857884delGCCGGGCCCGGCGCG	ENST00000295728.2	-	1	251_265	c.15_29delCGCGCCGGGCCCGGC	c.(13-30)cccgcgccgggcccggcg>ccg	p.APGPA6del	CRYBA2_ENST00000487181.1_5'Flank|CRYBA2_ENST00000392096.2_In_Frame_Del_p.APGPA6del	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2	6	N-terminal arm.				lens development in camera-type eye (GO:0002088)		structural constituent of eye lens (GO:0005212)			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTggcgggcgccgggcccggcgcgggggcgcTGC	0.716																																						uc002vjj.1		NaN																	0					0						c.(13-30)CCCGCGCCGGGCCCGGCG>CCG		crystallin, beta A2																																				SO:0001651	inframe_deletion	1412						structural constituent of eye lens	g.chr2:219857870_219857884delGCCGGGCCCGGCGCG		CCDS2429.1	2q35	2013-02-14			ENSG00000163499	ENSG00000163499			2395	protein-coding gene	gene with protein product		600836				7490092, 12907171	Standard	NM_057093		Approved		uc002vjj.1	P53672	OTTHUMG00000133084	ENST00000295728.2:c.15_29delCGCGCCGGGCCCGGC	2.37:g.219857870_219857884delGCCGGGCCCGGCGCG	ENSP00000295728:p.Ala6_Ala10del					CRYBA2_uc002vjk.1_In_Frame_Del_p.APGPA6del	p.APGPA6del	NM_057094	NP_476435	P53672	CRBA2_HUMAN		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	50_64	-		Renal(207;0.0474)	6_10			N-terminal arm.		Q4ZFX0|Q9Y562	In_Frame_Del	DEL	ENST00000295728.2	37	c.15_29delCGCGCCGGGCCCGGC	CCDS2429.1																																																																																				0.716	CRYBA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336424.1		NM_057093		6	11	NaN	NaN	NaN	NaN	NaN	6	11	---	---
AGFG2	3268	broad.mit.edu	37	7	100148019	100148022	+	Splice_Site	DEL	GTTT	GTTT	-			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:100148019_100148022delGTTT	ENST00000300176.4	+	3	438_441	c.316_319delGTTT	c.(316-321)gtttgc>gc	p.VC106fs	AGFG2_ENST00000262935.4_Splice_Site_p.VC106fs	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	106	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATTCTTTTAGGTTTGCCGGAAGAT	0.387																																						uc003uvf.2		NaN																	0				central_nervous_system(1)	1						c.(316-321)GTTTGCfs		ArfGAP with FG repeats 2																																				SO:0001630	splice_region_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100148019_100148022delGTTT	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.316-1GTTT>-	7.37:g.100148019_100148022delGTTT						AGFG2_uc003uvg.1_Frame_Shift_Del_p.V106fs|AGFG2_uc010lgy.2_5'UTR	p.V106fs	NM_006076	NP_006067	O95081	AGFG2_HUMAN			3	452_455	+			106_107			Arf-GAP.		O75429|Q96AB9|Q96GL4	Frame_Shift_Del	DEL	ENST00000300176.4	37	c.316_319delGTTT	CCDS5697.1																																																																																				0.387	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1		NM_006076	Frame_Shift_Del	163	137	NaN	NaN	NaN	NaN	NaN	163	137	---	---
FLNC	2318	broad.mit.edu	37	7	128492642	128492651	+	Splice_Site	DEL	CAGGTGATGA	CAGGTGATGA	-			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:128492642_128492651delCAGGTGATGA	ENST00000325888.8	+	36	6103_6110	c.5842_5849delCAGGTGATGA	c.(5842-5850)caggtgatg>g	p.QVM1948fs	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Splice_Site_p.QVM1915fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1948					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACTCCCCCACCAGGTGATGACTCCATGAGG	0.624																																						uc003vnz.3		NaN																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.e36-1		gamma filamin isoform a																																				SO:0001630	splice_region_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128492642_128492651delCAGGTGATGA	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5843-1CAGGTGATGA>-	7.37:g.128492642_128492651delCAGGTGATGA						FLNC_uc003voa.3_Splice_Site_p.G1915_splice	p.G1948_splice	NM_001458	NP_001449	Q14315	FLNC_HUMAN			36	6052	+								B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Splice_Site	DEL	ENST00000325888.8	37	c.5843_splice	CCDS43644.1																																																																																				0.624	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			Frame_Shift_Del	15	191	NaN	NaN	NaN	NaN	NaN	15	191	---	---
