#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
PLEKHN1	84069	broad.mit.edu	37	1	909923	909923	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:909923G>C	ENST00000379409.2	+	15	1990	c.1960G>C	c.(1960-1962)Gag>Cag	p.E654Q	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.E602Q|PLEKHN1_ENST00000379407.3_Missense_Mutation_p.E567Q			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	654								p.E602Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGGAGGGCCTGAGGCCAGTGG	0.662																																						uc001ace.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1960-1962)GAG>CAG		pleckstrin homology domain containing, family N							22.0	25.0	24.0					1																	909923		2199	4294	6493	SO:0001583	missense	84069							g.chr1:909923G>C	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1960G>C	1.37:g.909923G>C	ENSP00000368719:p.Glu654Gln					PLEKHN1_uc001acd.2_Missense_Mutation_p.E602Q|PLEKHN1_uc001acf.2_Missense_Mutation_p.E567Q	p.E654Q	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	15	1995	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	654					Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37	c.1960G>C		.	.	.	.	.	.	.	.	.	.	G	9.433	1.086045	0.20390	.	.	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.51325	0.74;0.71;0.73	4.21	3.29	0.37713	.	0.277828	0.28659	N	0.014567	T	0.43919	0.1269	L	0.27053	0.805	0.09310	N	1	P;D;P	0.63880	0.95;0.993;0.95	P;P;P	0.55303	0.698;0.773;0.698	T	0.17623	-1.0363	10	0.37606	T	0.19	-22.0394	9.7426	0.40427	0.1054:0.0:0.8946:0.0	.	567;654;602	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	Q	602;567;654	ENSP00000368720:E602Q;ENSP00000368717:E567Q;ENSP00000368719:E654Q	ENSP00000368717:E567Q	E	+	1	0	PLEKHN1	899786	0.226000	0.23696	0.065000	0.19835	0.005000	0.04900	0.882000	0.28186	2.352000	0.79861	0.579000	0.79373	GAG		0.662	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1		NM_032129		9	20	0	0	0	0.004482	0	9	20		
NOL9	79707	broad.mit.edu	37	1	6592664	6592664	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:6592664C>T	ENST00000377705.5	-	8	1426	c.1394G>A	c.(1393-1395)aGa>aAa	p.R465K		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	465					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)	p.R465K(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTCGATTTCTCATCTTGGT	0.433																																						uc001ans.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1393-1395)AGA>AAA		nucleolar protein 9							203.0	202.0	202.0					1																	6592664		2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6592664C>T	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1394G>A	1.37:g.6592664C>T	ENSP00000366934:p.Arg465Lys					NOL9_uc010nzs.1_RNA	p.R465K	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	8	1413	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	465					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.1394G>A	CCDS80.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895045	0.52121	.	.	ENSG00000162408	ENST00000377705	T	0.17528	2.27	6.04	3.94	0.45596	Pre-mRNA cleavage complex II Clp1 (1);	0.303320	0.32987	N	0.005408	T	0.06234	0.0161	N	0.10972	0.075	0.09310	N	1	B	0.30326	0.276	B	0.26517	0.07	T	0.35822	-0.9773	10	0.05436	T	0.98	-15.7175	6.6689	0.23058	0.1822:0.7068:0.0:0.111	.	465	Q5SY16	NOL9_HUMAN	K	465	ENSP00000366934:R465K	ENSP00000366934:R465K	R	-	2	0	NOL9	6515251	0.009000	0.17119	0.002000	0.10522	0.609000	0.37215	1.668000	0.37481	1.543000	0.49345	0.561000	0.74099	AGA		0.433	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1		NM_024654		46	147	0	0	0	0.01441	0	46	147		
RERE	473	broad.mit.edu	37	1	8418325	8418325	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:8418325G>C	ENST00000337907.3	-	21	4904	c.4270C>G	c.(4270-4272)Ccg>Gcg	p.P1424A	RERE_ENST00000377464.1_Missense_Mutation_p.P1156A|RERE_ENST00000476556.1_Missense_Mutation_p.P870A|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P1424A	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1424					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P1424A(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		tgatggtgCGGAGTCACGTTG	0.637																																						uc001ape.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(4270-4272)CCG>GCG		atrophin-1 like protein isoform a							127.0	103.0	111.0					1																	8418325		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8418325G>C	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4270C>G	1.37:g.8418325G>C	ENSP00000338629:p.Pro1424Ala					RERE_uc001apf.2_Missense_Mutation_p.P1424A|RERE_uc001apd.2_Missense_Mutation_p.P870A	p.P1424A	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	21	5080	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1424					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.4270C>G	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443758	0.83993	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.62364	0.03;0.05;0.03	5.61	5.61	0.85477	.	.	.	.	.	T	0.80232	0.4585	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81437	-0.0933	9	0.87932	D	0	-27.795	18.9896	0.92786	0.0:0.0:1.0:0.0	.	1424	Q9P2R6	RERE_HUMAN	A	1424;1156;870;1424	ENSP00000338629:P1424A;ENSP00000366684:P1156A;ENSP00000383700:P1424A	ENSP00000338629:P1424A	P	-	1	0	RERE	8340912	1.000000	0.71417	0.506000	0.27664	0.920000	0.55202	9.723000	0.98772	2.793000	0.96121	0.655000	0.94253	CCG		0.637	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1				10	34	0	0	0	0.006214	0	10	34		
CLSTN1	22883	broad.mit.edu	37	1	9801223	9801223	+	Missense_Mutation	SNP	G	G	A	rs542380649		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:9801223G>A	ENST00000377298.4	-	10	2240	c.1448C>T	c.(1447-1449)tCt>tTt	p.S483F	CLSTN1_ENST00000361311.4_Missense_Mutation_p.S473F|CLSTN1_ENST00000377288.3_Missense_Mutation_p.S483F	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	483					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)	p.S483F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CTCAGTCACAGAGAAGGGCTC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19939	0.0		0.0	False		,,,				2504	0.001					uc001aqh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1447-1449)TCT>TTT		calsyntenin 1 isoform 1							140.0	126.0	131.0					1																	9801223		2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9801223G>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1448C>T	1.37:g.9801223G>A	ENSP00000366513:p.Ser483Phe					CLSTN1_uc001aqi.2_Missense_Mutation_p.S473F|CLSTN1_uc010oag.1_Missense_Mutation_p.S483F	p.S483F	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	10	2207	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	483			Extracellular (Potential).		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.1448C>T	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957076	0.73902	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.37	5.37	0.77165	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.133081	0.52532	D	0.000063	T	0.41604	0.1166	N	0.08118	0	0.43885	D	0.996503	P;P;P	0.44690	0.841;0.809;0.841	B;B;B	0.44315	0.446;0.317;0.446	T	0.50767	-0.8789	10	0.56958	D	0.05	-22.7872	19.1089	0.93309	0.0:0.0:1.0:0.0	.	483;473;483	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	F	483;473;303;483;483	ENSP00000366513:S483F;ENSP00000354997:S473F;ENSP00000401934:S303F;ENSP00000366502:S483F	ENSP00000354997:S473F	S	-	2	0	CLSTN1	9723810	1.000000	0.71417	0.997000	0.53966	0.805000	0.45488	7.322000	0.79097	2.520000	0.84964	0.655000	0.94253	TCT		0.552	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1				19	79	0	0	0	0.010504	0	19	79		
CASZ1	54897	broad.mit.edu	37	1	10725233	10725233	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:10725233C>G	ENST00000377022.3	-	5	729	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	CASZ1_ENST00000344008.5_Missense_Mutation_p.E138Q|CASZ1_ENST00000478728.2_5'UTR	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	138					multicellular organismal development (GO:0007275)|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)|metal ion binding (GO:0046872)	p.E138Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTGGAGGGCTCCTCCGCGTGG	0.692																																						uc001aro.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(412-414)GAG>CAG		castor homolog 1, zinc finger isoform a							49.0	44.0	46.0					1																	10725233		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10725233C>G	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.412G>C	1.37:g.10725233C>G	ENSP00000366221:p.Glu138Gln					CASZ1_uc001arp.1_Missense_Mutation_p.E138Q|CASZ1_uc009vmx.2_Missense_Mutation_p.E162Q	p.E138Q	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	5	732	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	138					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.412G>C	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824602	0.71143	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.42	4.42	0.53409	.	0.130493	0.48767	D	0.000175	T	0.67590	0.2909	L	0.34521	1.04	0.46317	D	0.998984	D;D;D	0.89917	1.0;1.0;0.961	D;D;P	0.87578	0.998;0.998;0.677	T	0.72364	-0.4316	9	0.72032	D	0.01	-23.1436	17.4322	0.87542	0.0:1.0:0.0:0.0	.	162;138;138	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	Q	138	.	ENSP00000339445:E138Q	E	-	1	0	CASZ1	10647820	1.000000	0.71417	0.798000	0.32154	0.260000	0.26232	7.146000	0.77373	2.191000	0.70037	0.511000	0.50034	GAG		0.692	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2		NM_017766		11	57	0	0	0	0.001855	0	11	57		
MTOR	2475	broad.mit.edu	37	1	11184592	11184592	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:11184592G>C	ENST00000361445.4	-	47	6701	c.6625C>G	c.(6625-6627)Ctg>Gtg	p.L2209V	MTOR_ENST00000376838.1_Missense_Mutation_p.L414V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2209	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.L2209V(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCATTGGCCAGAAGGGTGTTA	0.463																																						uc001asd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(6625-6627)CTG>GTG		FK506 binding protein 12-rapamycin associated							112.0	105.0	107.0					1																	11184592		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11184592G>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6625C>G	1.37:g.11184592G>C	ENSP00000354558:p.Leu2209Val					MTOR_uc001asc.2_Missense_Mutation_p.L414V	p.L2209V	NM_004958	NP_004949	P42345	MTOR_HUMAN			47	6746	-			2209			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.6625C>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885603	0.72410	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	D;D	0.90133	-2.62;-2.62	5.8	3.95	0.45737	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.64402	D	0.000001	D	0.95781	0.8627	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95305	0.8407	10	0.87932	D	0	-14.9553	10.0351	0.42125	0.2134:0.0:0.7866:0.0	.	2209	P42345	MTOR_HUMAN	V	2209;414	ENSP00000354558:L2209V;ENSP00000366034:L414V	ENSP00000354558:L2209V	L	-	1	2	MTOR	11107179	1.000000	0.71417	0.914000	0.36105	0.999000	0.98932	3.207000	0.51106	0.830000	0.34757	0.650000	0.86243	CTG		0.463	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		NM_004958		15	72	0	0	0	0.00245	0	15	72		
VPS13D	55187	broad.mit.edu	37	1	12333105	12333105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:12333105C>T	ENST00000358136.3	+	18	2279	c.2149C>T	c.(2149-2151)Cag>Tag	p.Q717*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Q717*	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.Q717*(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTCTGCCCCTCAGGTGATATT	0.428																																						uc001atv.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(4)|pancreas(1)	5						c.(2149-2151)CAG>TAG		vacuolar protein sorting 13D isoform 1							150.0	142.0	144.0					1																	12333105		2203	4300	6503	SO:0001587	stop_gained	55187				protein localization			g.chr1:12333105C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2149C>T	1.37:g.12333105C>T	ENSP00000350854:p.Gln717*					VPS13D_uc001atw.2_Nonsense_Mutation_p.Q717*|VPS13D_uc001atx.2_5'Flank	p.Q717*	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	18	2290	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	717						Nonsense_Mutation	SNP	ENST00000358136.3	37	c.2149C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	41	9.105591	0.99068	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	18.6544	0.91445	0.0:1.0:0.0:0.0	.	.	.	.	X	717	.	ENSP00000348666:Q717X	Q	+	1	0	VPS13D	12255692	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.442000	0.80503	2.381000	0.81170	0.585000	0.79938	CAG		0.428	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		27	101	0	0	0	0.007291	0	27	101		
VPS13D	55187	broad.mit.edu	37	1	12333134	12333134	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:12333134C>G	ENST00000358136.3	+	18	2308	c.2178C>G	c.(2176-2178)ttC>ttG	p.F726L	VPS13D_ENST00000356315.4_Missense_Mutation_p.F726L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.F726L(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTTCAAATTCAAGAATCCTG	0.423																																						uc001atv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|pancreas(1)	5						c.(2176-2178)TTC>TTG		vacuolar protein sorting 13D isoform 1							153.0	147.0	149.0					1																	12333134		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12333134C>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2178C>G	1.37:g.12333134C>G	ENSP00000350854:p.Phe726Leu					VPS13D_uc001atw.2_Missense_Mutation_p.F726L|VPS13D_uc001atx.2_5'Flank	p.F726L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	18	2319	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	726						Missense_Mutation	SNP	ENST00000358136.3	37	c.2178C>G	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398039	0.25205	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.51071	0.72;0.72	5.04	0.329	0.15924	.	0.269791	0.37095	N	0.002253	T	0.22589	0.0545	N	0.16478	0.41	0.40773	D	0.983103	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09530	-1.0670	10	0.09338	T	0.73	.	5.9988	0.19509	0.0:0.507:0.1445:0.3485	.	726;726	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	L	726	ENSP00000348666:F726L;ENSP00000350854:F726L	ENSP00000348666:F726L	F	+	3	2	VPS13D	12255721	0.990000	0.36364	0.988000	0.46212	0.910000	0.53928	0.669000	0.25142	0.146000	0.19002	-0.237000	0.12165	TTC		0.423	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		19	88	0	0	0	0.008871	0	19	88		
PADI2	11240	broad.mit.edu	37	1	17395563	17395563	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:17395563G>A	ENST00000375486.4	-	16	2037	c.1974C>T	c.(1972-1974)ttC>ttT	p.F658F	PADI2_ENST00000444885.2_Silent_p.F542F|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	658					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)	p.F658F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GCCACCACTTGAAGGTGAAGG	0.592																																						uc001baf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1972-1974)TTC>TTT		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						86.0	81.0	83.0					1																	17395563		2203	4300	6503	SO:0001819	synonymous_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17395563G>A	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1974C>T	1.37:g.17395563G>A						PADI2_uc010ocm.1_Silent_p.F542F	p.F658F	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	16	2056	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	658					Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	c.1974C>T	CCDS177.1																																																																																				0.592	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1				33	117	0	0	0	0.003755	0	33	117		
PADI2	11240	broad.mit.edu	37	1	17395644	17395644	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:17395644G>A	ENST00000375486.4	-	16	1956	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	PADI2_ENST00000444885.2_Silent_p.F515F|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	631					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)	p.F631F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TGTCGTCGATGAAGGTGCATT	0.597																																						uc001baf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1891-1893)TTC>TTT		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						115.0	104.0	108.0					1																	17395644		2203	4300	6503	SO:0001819	synonymous_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17395644G>A	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1893C>T	1.37:g.17395644G>A						PADI2_uc010ocm.1_Silent_p.F515F	p.F631F	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	16	1975	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	631					Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	c.1893C>T	CCDS177.1																																																																																				0.597	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1				38	142	0	0	0	0.00623	0	38	142		
PADI3	51702	broad.mit.edu	37	1	17575710	17575710	+	Silent	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:17575710C>A	ENST00000375460.3	+	1	118	c.78C>A	c.(76-78)ctC>ctA	p.L26L		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	26					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.L26L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGAGACCCTCGTGGACATTT	0.602																																						uc001bai.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(76-78)CTC>CTA		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						147.0	126.0	133.0					1																	17575710		2203	4300	6503	SO:0001819	synonymous_variant	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17575710C>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.78C>A	1.37:g.17575710C>A							p.L26L	NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	1	118	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	26					Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	37	c.78C>A	CCDS179.1																																																																																				0.602	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1				17	105	1	0	6.94344e-10	0.006122	7.10421e-10	17	105		
ALPL	249	broad.mit.edu	37	1	21889741	21889741	+	Missense_Mutation	SNP	G	G	A	rs138587317		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:21889741G>A	ENST00000374840.3	+	5	686	c.436G>A	c.(436-438)Gag>Aag	p.E146K	ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000374832.1_Missense_Mutation_p.E146K|ALPL_ENST00000539907.1_Missense_Mutation_p.E69K|ALPL_ENST00000540617.1_Missense_Mutation_p.E91K|ALPL_ENST00000425315.2_Missense_Mutation_p.E146K	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	146					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.E146K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CCAGGGGAACGAGGTCACCTC	0.667																																						uc001bet.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(436-438)GAG>AAG		tissue-nonspecific alkaline phosphatase	Amifostine(DB01143)	G	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	61.0	55.0	57.0		436,271,205	4.5	1.0	1	dbSNP_134	57	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	ALPL	NM_000478.4,NM_001127501.2,NM_001177520.1	56,56,56	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	146/525,91/470,69/448	21889741	4,13002	2203	4300	6503	SO:0001583	missense	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21889741G>A	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.436G>A	1.37:g.21889741G>A	ENSP00000363973:p.Glu146Lys					ALPL_uc010odn.1_Missense_Mutation_p.E94K|ALPL_uc010odo.1_Missense_Mutation_p.E91K|ALPL_uc010odp.1_Missense_Mutation_p.E69K|ALPL_uc001beu.3_Missense_Mutation_p.E146K	p.E146K	NM_000478	NP_000469	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	5	693	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	146					A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	c.436G>A	CCDS217.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037768	0.93630	0.0	4.65E-4	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14	4.49	4.49	0.54785	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.106589	0.64402	D	0.000005	D	0.96531	0.8868	L	0.52573	1.65	0.80722	D	1	D;D;D	0.62365	0.961;0.991;0.984	P;P;P	0.58266	0.455;0.836;0.632	D	0.96106	0.9073	10	0.42905	T	0.14	-21.1824	15.8954	0.79329	0.0:0.0:1.0:0.0	.	69;94;146	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	K	69;91;146;146;146	ENSP00000437674:E69K;ENSP00000442672:E91K;ENSP00000363973:E146K;ENSP00000363965:E146K;ENSP00000394765:E146K	ENSP00000363965:E146K	E	+	1	0	ALPL	21762328	1.000000	0.71417	0.962000	0.40283	0.977000	0.68977	7.653000	0.83643	2.320000	0.78422	0.655000	0.94253	GAG		0.667	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1		NM_000478		17	61	0	0	0	0.004007	0	17	61		
PAFAH2	5051	broad.mit.edu	37	1	26288494	26288494	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:26288494G>C	ENST00000374282.3	-	11	1344	c.1165C>G	c.(1165-1167)Ctg>Gtg	p.L389V	PAFAH2_ENST00000374284.1_Missense_Mutation_p.L389V|RNU6-110P_ENST00000384508.1_RNA	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	389					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)	p.L389V(1)		NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCTGGACAGATGGTGGGGG	0.488																																						uc001bld.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1165-1167)CTG>GTG		platelet-activating factor acetylhydrolase 2							134.0	147.0	142.0					1																	26288494		2203	4300	6503	SO:0001583	missense	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26288494G>C	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.1165C>G	1.37:g.26288494G>C	ENSP00000363400:p.Leu389Val					PAFAH2_uc001ble.3_Missense_Mutation_p.L389V	p.L389V	NM_000437	NP_000428	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	11	1345	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	389					D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	37	c.1165C>G	CCDS270.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934622	0.73442	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.54071	0.59;0.59	5.22	4.31	0.51392	.	0.131935	0.34603	N	0.003835	T	0.56062	0.1960	L	0.40543	1.245	0.28344	N	0.921211	D	0.63880	0.993	D	0.76071	0.987	T	0.48269	-0.9050	10	0.06625	T	0.88	-10.5278	9.9957	0.41898	0.0942:0.0:0.9058:0.0	.	389	Q99487	PAFA2_HUMAN	V	389	ENSP00000363400:L389V;ENSP00000363402:L389V	ENSP00000363400:L389V	L	-	1	2	PAFAH2	26161081	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.260000	0.43267	1.341000	0.45600	0.655000	0.94253	CTG		0.488	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1		NM_000437		83	252	0	0	0	0.01441	0	83	252		
ARID1A	8289	broad.mit.edu	37	1	27106166	27106166	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:27106166G>C	ENST00000324856.7	+	20	6148	c.5777G>C	c.(5776-5778)gGa>gCa	p.G1926A	ARID1A_ENST00000540690.1_Missense_Mutation_p.G254A|ARID1A_ENST00000457599.2_Missense_Mutation_p.G1709A|ARID1A_ENST00000374152.2_Missense_Mutation_p.G1543A	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1926					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|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)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1926A(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCGAGGATGGAGCTAAGAGT	0.542			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Missense(1)		urinary_tract(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(5776-5778)GGA>GCA		AT rich interactive domain 1A isoform a							121.0	119.0	120.0					1																	27106166		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106166G>C	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5777G>C	1.37:g.27106166G>C	ENSP00000320485:p.Gly1926Ala					ARID1A_uc001bmu.1_Missense_Mutation_p.G1709A|ARID1A_uc001bmx.1_Missense_Mutation_p.G772A|ARID1A_uc009vsm.1_Missense_Mutation_p.G254A|ARID1A_uc009vsn.1_Missense_Mutation_p.G168A	p.G1926A	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6150	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1926					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.5777G>C	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.939|0.939	-0.710205|-0.710205	0.03230|0.03230	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	T;T;T;T|.	0.08458|.	4.68;4.5;4.49;3.09|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.343652|.	0.29286|.	N|.	0.012596|.	T|T	0.18467|0.18467	0.0443|0.0443	N|N	0.01352|0.01352	-0.895|-0.895	0.40208|0.40208	D|D	0.977598|0.977598	B;B;B|.	0.31817|.	0.003;0.231;0.341|.	B;B;B|.	0.28011|.	0.002;0.039;0.085|.	T|T	0.17745|0.17745	-1.0359|-1.0359	10|5	0.02654|.	T|.	1|.	-5.1845|-5.1845	7.2876|7.2876	0.26348|0.26348	0.1438:0.0:0.8562:0.0|0.1438:0.0:0.8562:0.0	.|.	1543;1926;1709|.	O14497-3;O14497;O14497-2|.	.;ARI1A_HUMAN;.|.	A|C	1926;1709;1543;254|822	ENSP00000320485:G1926A;ENSP00000387636:G1709A;ENSP00000363267:G1543A;ENSP00000442437:G254A|.	ENSP00000320485:G1926A|.	G|W	+|+	2|3	0|0	ARID1A|ARID1A	26978753|26978753	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.154000|0.154000	0.21943|0.21943	4.117000|4.117000	0.57877|0.57877	2.667000|2.667000	0.90743|0.90743	0.491000|0.491000	0.48974|0.48974	GGA|TGG		0.542	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		47	143	0	0	0	0.01441	0	47	143		
YTHDF2	51441	broad.mit.edu	37	1	29070328	29070328	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:29070328G>C	ENST00000373812.3	+	4	1908	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q	YTHDF2_ENST00000541996.1_Missense_Mutation_p.E466Q|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Missense_Mutation_p.E516Q	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	516	Interaction with m6A-containing mRNAs.|YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.E516Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CATTCGCCTAGAGAACAACGA	0.478																																						uc001brc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1546-1548)GAG>CAG		high glucose-regulated protein 8							65.0	64.0	64.0					1																	29070328		1923	4133	6056	SO:0001583	missense	51441				humoral immune response			g.chr1:29070328G>C	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1546G>C	1.37:g.29070328G>C	ENSP00000362918:p.Glu516Gln					YTHDF2_uc001brd.2_Missense_Mutation_p.E513Q|YTHDF2_uc010ofx.1_Missense_Mutation_p.E466Q|YTHDF2_uc001bre.2_Missense_Mutation_p.E466Q	p.E516Q	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	2043	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	516			YTH.		A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	c.1546G>C	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037953	0.75617	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.29917	1.55;1.55;1.55	5.89	5.89	0.94794	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	M	0.79343	2.45	0.80722	D	1	D;P	0.76494	0.999;0.933	D;P	0.79108	0.992;0.838	T	0.57159	-0.7859	9	.	.	.	-16.4209	19.029	0.92948	0.0:0.0:1.0:0.0	.	516;516	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	Q	516;516;466;516	ENSP00000444660:E516Q;ENSP00000362918:E516Q;ENSP00000439394:E466Q	.	E	+	1	0	YTHDF2	28942915	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.764000	0.98949	2.793000	0.96121	0.643000	0.83706	GAG		0.478	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1		NM_016258		30	58	0	0	0	0.007291	0	30	58		
PTPRU	10076	broad.mit.edu	37	1	29609213	29609213	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:29609213G>A	ENST00000345512.3	+	12	2023	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	PTPRU_ENST00000373779.3_Missense_Mutation_p.E632K|PTPRU_ENST00000428026.2_Missense_Mutation_p.E632K|PTPRU_ENST00000323874.8_Missense_Mutation_p.E632K|PTPRU_ENST00000460170.2_Missense_Mutation_p.E632K|PTPRU_ENST00000356870.3_Missense_Mutation_p.E632K|PTPRU_ENST00000415600.2_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	632	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E632K(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGTGGAGGAGGAGCGGGCGCG	0.652																																						uc001bru.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(1894-1896)GAG>AAG		protein tyrosine phosphatase, receptor type, U							46.0	42.0	43.0					1																	29609213		2203	4299	6502	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29609213G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1894G>A	1.37:g.29609213G>A	ENSP00000334941:p.Glu632Lys					PTPRU_uc001brv.2_Missense_Mutation_p.E632K|PTPRU_uc001brw.2_Missense_Mutation_p.E632K|PTPRU_uc009vtq.2_Missense_Mutation_p.E632K|PTPRU_uc009vtr.2_Missense_Mutation_p.E632K	p.E632K	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	12	2004	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	632			Extracellular (Potential).|Fibronectin type-III 4.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.1894G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892385	0.91889	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.34472	1.4;1.42;1.43;1.43;1.36;1.43	5.52	5.52	0.82312	.	0.065743	0.64402	D	0.000013	T	0.46151	0.1378	M	0.76574	2.34	0.80722	D	1	P;P;P;P;P	0.45348	0.802;0.802;0.802;0.701;0.856	B;B;B;B;B	0.43536	0.423;0.423;0.423;0.242;0.242	T	0.47032	-0.9148	9	.	.	.	.	18.4228	0.90597	0.0:0.0:1.0:0.0	.	632;632;632;632;632	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	K	632	ENSP00000334941:E632K;ENSP00000362884:E632K;ENSP00000349333:E632K;ENSP00000314987:E632K;ENSP00000392332:E632K;ENSP00000432906:E632K	.	E	+	1	0	PTPRU	29481800	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.598000	0.87819	0.549000	0.68633	GAG		0.652	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1				16	47	0	0	0	0.008871	0	16	47		
YARS	8565	broad.mit.edu	37	1	33245110	33245110	+	Missense_Mutation	SNP	C	C	T	rs147005844	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:33245110C>T	ENST00000373477.4	-	12	2257	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	450	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)	p.R450H(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCAACCTGGCGGTTTATCCC	0.557																																						uc001bvy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(1348-1350)CGC>CAC		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)	C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	62.0	61.0	61.0		1349	5.7	1.0	1	dbSNP_134	61	0,8600		0,0,4300	no	missense	YARS	NM_003680.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	450/529	33245110	2,13004	2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33245110C>T	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1349G>A	1.37:g.33245110C>T	ENSP00000362576:p.Arg450His					YARS_uc001bvw.1_Missense_Mutation_p.R110H|YARS_uc001bvx.1_Missense_Mutation_p.R101H	p.R450H	NM_003680	NP_003671	P54577	SYYC_HUMAN			12	2137	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	450			tRNA-binding.		B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.1349G>A	CCDS368.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644507	0.87859	4.54E-4	0.0	ENSG00000134684	ENST00000373477	T	0.72725	-0.68	5.65	5.65	0.86999	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.042460	0.85682	D	0.000000	T	0.78811	0.4342	L	0.60455	1.87	0.58432	D	0.999994	D	0.67145	0.996	P	0.61533	0.89	T	0.78640	-0.2125	10	0.52906	T	0.07	-10.8233	13.3464	0.60575	0.0:0.928:0.0:0.072	.	450	P54577	SYYC_HUMAN	H	450	ENSP00000362576:R450H	ENSP00000362576:R450H	R	-	2	0	YARS	33017697	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	3.091000	0.50199	2.835000	0.97688	0.650000	0.86243	CGC		0.557	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1		NM_003680		34	83	0	0	0	0.013726	0	34	83		
SFPQ	6421	broad.mit.edu	37	1	35654606	35654606	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:35654606C>G	ENST00000357214.5	-	6	1793	c.1695G>C	c.(1693-1695)ttG>ttC	p.L565F		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	565					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.L565F(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				AATTTTACCTCAATTGCATTT	0.383			T	TFE3	papillary renal cell																																	uc001bys.2		NaN		Dom	yes		1	1p34.3	6421	T	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)			E	TFE3		papillary renal cell	SFPQ/TFE3(6)	1	Substitution - Missense(1)		urinary_tract(1)	kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8						c.(1693-1695)TTG>TTC		splicing factor proline/glutamine rich							212.0	191.0	198.0					1																	35654606		2203	4299	6502	SO:0001583	missense	6421				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|protein binding|RNA binding	g.chr1:35654606C>G	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1695G>C	1.37:g.35654606C>G	ENSP00000349748:p.Leu565Phe					SFPQ_uc001byr.2_RNA	p.L565F	NM_005066	NP_005057	P23246	SFPQ_HUMAN			6	1788	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	565					P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	c.1695G>C	CCDS388.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285567	0.59867	.	.	ENSG00000116560	ENST00000357214	D	0.92965	-3.14	5.7	-0.331	0.12679	.	0.066725	0.64402	D	0.000019	D	0.90686	0.7078	L	0.38838	1.175	0.51767	D	0.999937	D	0.76494	0.999	D	0.64144	0.922	D	0.86578	0.1852	10	0.46703	T	0.11	-8.3692	6.864	0.24082	0.1128:0.4452:0.0:0.4419	.	565	P23246	SFPQ_HUMAN	F	565	ENSP00000349748:L565F	ENSP00000349748:L565F	L	-	3	2	SFPQ	35427193	0.083000	0.21467	0.880000	0.34516	0.820000	0.46376	-0.618000	0.05578	0.027000	0.15297	0.561000	0.74099	TTG		0.383	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4		NM_005066		3	46	0	0	0	0.004672	0	3	46		
MACF1	23499	broad.mit.edu	37	1	39797236	39797236	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:39797236G>C	ENST00000372915.3	+	36	5078	c.4991G>C	c.(4990-4992)gGa>gCa	p.G1664A	MACF1_ENST00000564288.1_Missense_Mutation_p.G1659A|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G99A|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.G1696A|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1664					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.G99A(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGCAACTGGAGGTTTCAGT	0.433																																						uc010oiu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(295-297)GGA>GCA		microfilament and actin filament cross-linker							85.0	87.0	86.0					1																	39797236		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39797236G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4991G>C	1.37:g.39797236G>C	ENSP00000362006:p.Gly1664Ala					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.G99A	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	427	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1664			Plectin 2.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.296G>C		.	.	.	.	.	.	.	.	.	.	G	15.17	2.754845	0.49362	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	D;D	0.85773	-2.03;-2.03	5.76	4.83	0.62350	.	0.000000	0.64402	D	0.000014	D	0.88466	0.6444	M	0.76328	2.33	0.80722	D	1	D	0.61697	0.99	P	0.51016	0.656	D	0.89877	0.4027	10	0.72032	D	0.01	.	15.1887	0.73025	0.0686:0.0:0.9314:0.0	.	1664	Q9UPN3	MACF1_HUMAN	A	1664;99	ENSP00000362006:G1664A;ENSP00000289893:G99A	ENSP00000289893:G99A	G	+	2	0	MACF1	39569823	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.899000	0.87370	2.722000	0.93159	0.650000	0.86243	GGA		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		29	114	0	0	0	0.010818	0	29	114		
SZT2	23334	broad.mit.edu	37	1	43893963	43893963	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:43893963G>A	ENST00000562955.1	+	27	3801	c.3801G>A	c.(3799-3801)ctG>ctA	p.L1267L	SZT2_ENST00000372442.1_Silent_p.L425L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1324					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.L425L(2)|p.L1267L(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						AGGATTTGCTGACAGCGGTAG	0.547																																						uc001cjk.1		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)		0						c.(1273-1275)CTG>CTA		hypothetical protein LOC23334							111.0	93.0	99.0					1																	43893963		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43893963G>A	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.3801G>A	1.37:g.43893963G>A							p.L425L	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			13	1737	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1324					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.1275G>A	CCDS30694.2																																																																																				0.547	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		NM_015284		23	74	0	0	0	0.00278	0	23	74		
SZT2	23334	broad.mit.edu	37	1	43905293	43905293	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:43905293C>G	ENST00000562955.1	+	49	6724	c.6724C>G	c.(6724-6726)Cta>Gta	p.L2242V	SZT2_ENST00000471177.1_3'UTR|SZT2_ENST00000372442.1_Missense_Mutation_p.L1400V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2299					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.L1400V(2)|p.L2242V(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						CTGCATCACTCTAGCCTTTGT	0.622																																						uc001cjk.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)		0						c.(4198-4200)CTA>GTA		hypothetical protein LOC23334							93.0	104.0	100.0					1																	43905293		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43905293C>G	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.6724C>G	1.37:g.43905293C>G	ENSP00000457168:p.Leu2242Val						p.L1400V	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			35	4660	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2299					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.4198C>G	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863893	0.51482	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.99	4.09	0.47781	.	0.000000	0.64402	D	0.000002	T	0.46249	0.1383	L	0.54323	1.7	0.24000	N	0.996213	B	0.21309	0.054	B	0.23018	0.043	T	0.46289	-0.9202	9	0.72032	D	0.01	.	15.2815	0.73787	0.0:0.7348:0.2652:0.0	.	2242	Q5T011-5	.	V	1400	.	ENSP00000361519:L1400V	L	+	1	2	SZT2	43677880	0.989000	0.36119	1.000000	0.80357	0.996000	0.88848	2.804000	0.47931	0.838000	0.34948	-0.175000	0.13238	CTA		0.622	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		NM_015284		40	170	0	0	0	0.00874	0	40	170		
CYP4A22	284541	broad.mit.edu	37	1	47614449	47614449	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:47614449G>A	ENST00000371891.3	+	12	1571	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.E416K	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	514						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.E514K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAACCCTTGTGAAGACAAGGA	0.567																																					Pancreas(88;1240 1470 2099 14214 37557)	uc001cqv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)|breast(1)	4						c.(1540-1542)GAA>AAA		cytochrome P450, family 4, subfamily A,							80.0	68.0	72.0					1																	47614449		2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47614449G>A		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1540G>A	1.37:g.47614449G>A	ENSP00000360958:p.Glu514Lys						p.E514K	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN			12	1591	+			514					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.1540G>A	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	g	12.95	2.092064	0.36952	.	.	ENSG00000162365	ENST00000371890;ENST00000371891	T;T	0.72505	-0.66;-0.44	2.0	2.0	0.26442	.	.	.	.	.	T	0.48714	0.1515	N	0.08118	0	0.09310	N	1	B	0.20261	0.043	B	0.12156	0.007	T	0.41645	-0.9497	9	0.45353	T	0.12	.	9.455	0.38750	0.0:0.0:1.0:0.0	.	514	Q5TCH4	CP4AM_HUMAN	K	416;514	ENSP00000360957:E416K;ENSP00000360958:E514K	ENSP00000360957:E416K	E	+	1	0	CYP4A22	47387036	0.000000	0.05858	0.151000	0.22473	0.364000	0.29643	-2.995000	0.00655	1.112000	0.41740	0.194000	0.17425	GAA		0.567	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1		XM_208213		5	87	0	0	0	0.000602	0	5	87		
CYB5RL	606495	broad.mit.edu	37	1	54644891	54644891	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:54644891G>C	ENST00000534324.1	-	5	674	c.675C>G	c.(673-675)atC>atG	p.I225M	CYB5RL_ENST00000401046.3_Missense_Mutation_p.I77M|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000287899.8_Intron|CYB5RL_ENST00000542737.1_Missense_Mutation_p.I225M|CYB5RL_ENST00000419823.2_Missense_Mutation_p.I225M|CYB5RL_ENST00000537208.1_Intron			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	225							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.I225M(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TTTTCAGGTAGATGCTCTCAA	0.512																																						uc009vzo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(673-675)ATC>ATG		cytochrome b5 reductase-like							72.0	77.0	75.0					1																	54644891		2006	4179	6185	SO:0001583	missense	606495						cytochrome-b5 reductase activity	g.chr1:54644891G>C		CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.675C>G	1.37:g.54644891G>C	ENSP00000434343:p.Ile225Met					CYB5RL_uc001cww.2_Missense_Mutation_p.I115M|CYB5RL_uc001cwx.3_RNA|CYB5RL_uc001cwy.3_Missense_Mutation_p.I77M	p.I225M	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN			7	995	-			225					B7ZBS4|Q8NF25	Missense_Mutation	SNP	ENST00000534324.1	37	c.675C>G	CCDS44151.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162955	0.57476	.	.	ENSG00000215883	ENST00000419823;ENST00000401046;ENST00000534324;ENST00000542737;ENST00000493530	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	5.19	5.19	0.71726	Oxidoreductase FAD/NAD(P)-binding (1);	0.193256	0.23591	U	0.046559	D	0.92071	0.7487	M	0.75884	2.315	0.36483	D	0.867942	D;D	0.64830	0.994;0.973	D;D	0.65323	0.934;0.916	D	0.93283	0.6662	10	0.87932	D	0	-20.2361	5.7858	0.18333	0.1275:0.0:0.6931:0.1793	.	225;77	Q6IPT4;Q6IPT4-3	NB5R5_HUMAN;.	M	225;77;225;225;139	ENSP00000409075:I225M;ENSP00000383825:I77M;ENSP00000434343:I225M;ENSP00000438151:I225M;ENSP00000434606:I139M	ENSP00000383825:I77M	I	-	3	3	CYB5RL	54417479	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.796000	0.47869	2.586000	0.87340	0.655000	0.94253	ATC		0.512	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1		NM_001031672		7	12	0	0	0	0.001984	0	7	12		
MROH7	374977	broad.mit.edu	37	1	55136238	55136238	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:55136238G>C	ENST00000421030.2	+	6	1743	c.1458G>C	c.(1456-1458)ctG>ctC	p.L486L	MROH7_ENST00000409996.1_Silent_p.L54L|MROH7_ENST00000545244.1_Silent_p.L54L|MROH7_ENST00000339553.5_Silent_p.L486L|MROH7_ENST00000454855.2_Silent_p.L4L|MROH7-TTC4_ENST00000414150.2_Silent_p.L486L|MROH7_ENST00000395690.2_Silent_p.L486L	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	486						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.L486L(2)									TGGAGATCCTGACCCAGCTGA	0.627																																						uc010ooe.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(1456-1458)CTG>CTC		hypothetical protein LOC374977							37.0	43.0	41.0					1																	55136238		2078	4185	6263	SO:0001819	synonymous_variant	374977					integral to membrane	binding	g.chr1:55136238G>C	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1458G>C	1.37:g.55136238G>C						C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.L54L|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.L4L|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.L486L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_Intron|C1orf175_uc001cxt.1_RNA	p.L486L	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			6	1782	+			486					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.1458G>C	CCDS41342.2																																																																																				0.627	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1		NM_198547		9	30	0	0	0	0.008291	0	9	30		
HOOK1	51361	broad.mit.edu	37	1	60336747	60336747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:60336747G>T	ENST00000371208.3	+	21	2238	c.1981G>T	c.(1981-1983)Gaa>Taa	p.E661*	HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E619*|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	661	Sufficient for interaction with AKTIP and VPS18.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.E661*(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					CCGTGATTATGAAGAAAAACT	0.328																																						uc009wad.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(1981-1983)GAA>TAA		hook homolog 1							98.0	102.0	101.0					1																	60336747		2203	4300	6503	SO:0001587	stop_gained	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60336747G>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1981G>T	1.37:g.60336747G>T	ENSP00000360252:p.Glu661*					HOOK1_uc001czo.2_Nonsense_Mutation_p.E661*|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Nonsense_Mutation_p.E619*	p.E661*	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			22	2083	+	all_cancers(7;0.000129)		661	EE->AA: Abrogates interaction with AKTIP, VPS16, VPS18, VPS39 and VPS41, but does not affect interaction with HOOK2 or HOOK3; when associated with 669-A-A-670.		Sufficient for interaction with AKTIP and VPS18.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Nonsense_Mutation	SNP	ENST00000371208.3	37	c.1981G>T	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	43	9.916490	0.99295	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.1519	0.98089	0.0:0.0:1.0:0.0	.	.	.	.	X	661;619	.	ENSP00000360252:E661X	E	+	1	0	HOOK1	60109335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.336000	0.90033	2.861000	0.98227	0.655000	0.94253	GAA		0.328	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1		NM_015888		19	45	1	0	3.5997e-14	0.014323	3.71169e-14	19	45		
JAK1	3716	broad.mit.edu	37	1	65304176	65304176	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:65304176T>A	ENST00000342505.4	-	21	3187	c.2939A>T	c.(2938-2940)cAg>cTg	p.Q980L	JAK1_ENST00000465376.1_5'Flank	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	980	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.Q980L(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ATATTTTAGCTGCTGTTTGAG	0.358			Mis		ALL																																	uc001dbu.1		NaN		Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		1	Substitution - Missense(1)	p.E966_K989del(1)	urinary_tract(1)	haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61						c.(2938-2940)CAG>CTG		janus kinase 1							189.0	164.0	171.0					1																	65304176		1829	4089	5918	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65304176T>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2939A>T	1.37:g.65304176T>A	ENSP00000343204:p.Gln980Leu					JAK1_uc009wam.1_Missense_Mutation_p.Q968L|JAK1_uc009wal.1_Missense_Mutation_p.Q157L	p.Q980L	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	21	3188	-			980			Protein kinase 2.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2939A>T	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	T	4.208	0.037331	0.08148	.	.	ENSG00000162434	ENST00000342505	D	0.87571	-2.27	5.38	5.38	0.77491	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.39145	0.1067	N	0.00387	-1.565	0.41589	D	0.98878	B	0.18013	0.025	B	0.15052	0.012	T	0.54563	-0.8275	9	0.02654	T	1	-7.9613	11.4035	0.49883	0.1431:0.0:0.0:0.8569	.	980	P23458	JAK1_HUMAN	L	980	ENSP00000343204:Q980L	ENSP00000343204:Q980L	Q	-	2	0	JAK1	65076764	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.877000	0.63086	2.254000	0.74563	0.533000	0.62120	CAG		0.358	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1		NM_002227		23	92	0	0	0	0.003954	0	23	92		
SLC44A5	204962	broad.mit.edu	37	1	75699699	75699699	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:75699699C>T	ENST00000370855.5	-	12	938	c.825G>A	c.(823-825)atG>atA	p.M275I	SLC44A5_ENST00000370859.3_Missense_Mutation_p.M275I|SLC44A5_ENST00000535611.1_Missense_Mutation_p.M145I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	275					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M275I(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TCACACCAATCATGAAGACCC	0.373																																						uc001dgu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(823-825)ATG>ATA		solute carrier family 44, member 5 isoform A							142.0	145.0	144.0					1																	75699699		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75699699C>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.825G>A	1.37:g.75699699C>T	ENSP00000359892:p.Met275Ile					SLC44A5_uc001dgt.2_Missense_Mutation_p.M275I|SLC44A5_uc001dgs.2_Missense_Mutation_p.M233I|SLC44A5_uc001dgr.2_Missense_Mutation_p.M233I|SLC44A5_uc010oqz.1_Missense_Mutation_p.M314I|SLC44A5_uc010ora.1_Missense_Mutation_p.M269I|SLC44A5_uc010orb.1_Missense_Mutation_p.M145I	p.M275I	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			12	969	-			275			Helical; (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.825G>A	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.777224	0.00640	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.08896	3.43;3.44;3.04	5.23	-1.64	0.08318	.	0.623927	0.17837	N	0.160322	T	0.00384	0.0012	N	0.00630	-1.315	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.001	T	0.35968	-0.9767	10	0.02654	T	1	-0.0238	2.0572	0.03583	0.1093:0.2329:0.339:0.3188	.	269;314;275;275;314	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	I	275;314;275;145;268	ENSP00000359896:M275I;ENSP00000359892:M275I;ENSP00000443090:M145I	ENSP00000359892:M275I	M	-	3	0	SLC44A5	75472287	0.725000	0.28048	0.001000	0.08648	0.222000	0.24845	0.046000	0.14035	-0.170000	0.10816	0.655000	0.94253	ATG		0.373	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1		NM_152697		38	134	0	0	0	0.00874	0	38	134		
USP33	23032	broad.mit.edu	37	1	78163603	78163603	+	Silent	SNP	A	A	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:78163603A>G	ENST00000370793.1	-	24	2962	c.2616T>C	c.(2614-2616)ccT>ccC	p.P872P	USP33_ENST00000357428.1_Silent_p.P872P|USP33_ENST00000370794.3_Silent_p.P841P	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	872	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.P872P(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TATTGTCAATAGGACCTGGAG	0.313																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)|ovary(1)	3						c.(2614-2616)CCT>CCC		ubiquitin specific protease 33 isoform 1							145.0	150.0	148.0					1																	78163603		2203	4300	6503	SO:0001819	synonymous_variant	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78163603A>G	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2616T>C	1.37:g.78163603A>G						USP33_uc009wca.1_RNA|USP33_uc001dhs.2_Missense_Mutation_p.L559P|USP33_uc001dhu.2_Silent_p.P841P	p.P872P	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			24	2963	-			872			DUSP 2.		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Silent	SNP	ENST00000370793.1	37	c.2616T>C	CCDS678.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.561116	0.27915	.	.	ENSG00000077254	ENST00000481579	.	.	.	4.82	-0.392	0.12442	.	.	.	.	.	T	0.35566	0.0936	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25984	-1.0116	4	.	.	.	.	6.0822	0.19948	0.5519:0.0:0.3255:0.1226	.	.	.	.	H	443	.	.	Y	-	1	0	USP33	77936191	0.858000	0.29795	0.998000	0.56505	0.832000	0.47134	0.006000	0.13152	-0.014000	0.14175	-0.361000	0.07541	TAT		0.313	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2		NM_015017		51	142	0	0	0	0.01441	0	51	142		
LPHN2	23266	broad.mit.edu	37	1	82456494	82456494	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:82456494G>C	ENST00000370728.1	+	25	4690	c.4045G>C	c.(4045-4047)Gac>Cac	p.D1349H	LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370717.2_Missense_Mutation_p.D1364H|LPHN2_ENST00000271029.4_Missense_Mutation_p.D1321H|LPHN2_ENST00000359929.3_Missense_Mutation_p.D1293H|LPHN2_ENST00000370721.1_Missense_Mutation_p.D1274H|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370725.1_Missense_Mutation_p.D1364H|LPHN2_ENST00000370723.1_Missense_Mutation_p.D1351H|LPHN2_ENST00000335786.5_Missense_Mutation_p.D1306H|LPHN2_ENST00000319517.6_Missense_Mutation_p.D1293H|LPHN2_ENST00000370727.1_Missense_Mutation_p.D1321H|LPHN2_ENST00000394879.1_Missense_Mutation_p.D1351H|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370730.1_Missense_Mutation_p.D1306H			O95490	LPHN2_HUMAN	latrophilin 2	1349					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.D1293H(1)|p.D1364H(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGAGGGAACTGACAGCTATGT	0.512																																						uc001dit.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(3877-3879)GAC>CAC		latrophilin 2 precursor							72.0	73.0	72.0					1																	82456494		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82456494G>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.4045G>C	1.37:g.82456494G>C	ENSP00000359763:p.Asp1349His					LPHN2_uc001dis.2_Missense_Mutation_p.D273H|LPHN2_uc001diu.2_Missense_Mutation_p.D1293H|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.D920H	p.D1293H	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	21	4058	+			1349			Cytoplasmic (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3877G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.528|9.528	1.110076|1.110076	0.20714|0.20714	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T|.	0.70164|.	-0.44;-0.46;-0.46;-0.4;-0.4;-0.36;-0.42;-0.42;-0.4;-0.36;-0.4;-0.46|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.247483|.	0.37483|.	N|.	0.002064|.	T|.	0.44329|.	0.1288|.	N|N	0.22421|0.22421	0.69|0.69	0.46823|0.46823	D|D	0.999213|0.999213	B;P|.	0.48998|.	0.018;0.918|.	B;P|.	0.51701|.	0.014;0.677|.	T|.	0.37174|.	-0.9717|.	10|.	0.35671|.	T|.	0.21|.	.|.	19.1841|19.1841	0.93635|0.93635	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1293;273|.	O95490-2;B3KVU1|.	.;.|.	H|S	1274;1349;1306;1321;1364;1351;1293;1293;1364;1351;1321;1306|360	ENSP00000359756:D1274H;ENSP00000359763:D1349H;ENSP00000359765:D1306H;ENSP00000359762:D1321H;ENSP00000359760:D1364H;ENSP00000359758:D1351H;ENSP00000353006:D1293H;ENSP00000322270:D1293H;ENSP00000359752:D1364H;ENSP00000378344:D1351H;ENSP00000271029:D1321H;ENSP00000337306:D1306H|.	ENSP00000271029:D1321H|.	D|X	+|+	1|2	0|2	LPHN2|LPHN2	82229082|82229082	1.000000|1.000000	0.71417|0.71417	0.733000|0.733000	0.30861|0.30861	0.615000|0.615000	0.37417|0.37417	7.044000|7.044000	0.76578|0.76578	2.537000|2.537000	0.85549|0.85549	0.655000|0.655000	0.94253|0.94253	GAC|TGA		0.512	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1		NM_012302		28	100	0	0	0	0.004656	0	28	100		
COL24A1	255631	broad.mit.edu	37	1	86554904	86554904	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:86554904G>C	ENST00000370571.2	-	7	2026	c.1660C>G	c.(1660-1662)Caa>Gaa	p.Q554E	COL24A1_ENST00000436319.1_Missense_Mutation_p.Q554E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	554	Collagen-like 2.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.Q554E(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GAAAGGCCTTGATCACCCTAT	0.323																																						uc001dlj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1660-1662)CAA>GAA		collagen, type XXIV, alpha 1 precursor							77.0	75.0	76.0					1																	86554904		1805	4060	5865	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86554904G>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1660C>G	1.37:g.86554904G>C	ENSP00000359603:p.Gln554Glu					COL24A1_uc010osd.1_Translation_Start_Site|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.Q554E	p.Q554E	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	7	1702	-			554			Collagen-like 2.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1660C>G	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	6.578	0.474970	0.12521	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.16597	2.33;2.33	5.41	3.46	0.39613	.	0.641725	0.12969	N	0.424264	T	0.05181	0.0138	L	0.58669	1.825	0.19300	N	0.999973	B;B	0.19817	0.039;0.024	B;B	0.24006	0.023;0.05	T	0.45877	-0.9231	10	0.05436	T	0.98	.	11.0463	0.47861	0.0:0.0:0.6364:0.3636	.	554;554	F8WDM8;Q17RW2	.;COOA1_HUMAN	E	554	ENSP00000359603:Q554E;ENSP00000392531:Q554E	ENSP00000359603:Q554E	Q	-	1	0	COL24A1	86327492	0.200000	0.23398	0.556000	0.28293	0.702000	0.40608	1.367000	0.34204	0.770000	0.33336	0.561000	0.74099	CAA		0.323	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4		NM_152890		24	72	0	0	0	0.00632	0	24	72		
CCBL2	56267	broad.mit.edu	37	1	89426873	89426873	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:89426873G>C	ENST00000260508.4	-	8	1101	c.764C>G	c.(763-765)tCt>tGt	p.S255C	CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.S221C|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	255					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.S255C(1)|p.S221C(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		CTTATTTCCAGAATATACAAG	0.383																																						uc001dmp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(763-765)TCT>TGT		kynurenine aminotransferase III isoform 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						150.0	148.0	149.0					1																	89426873		2203	4300	6503	SO:0001583	missense	56267				biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding	g.chr1:89426873G>C	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.764C>G	1.37:g.89426873G>C	ENSP00000260508:p.Ser255Cys					CCBL2_uc001dmq.2_Missense_Mutation_p.S221C|CCBL2_uc001dmr.2_Missense_Mutation_p.S91C	p.S255C	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN		all cancers(265;0.0117)|Epithelial(280;0.0341)	8	1141	-		Lung NSC(277;0.123)	255					B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	c.764C>G	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463298	0.63513	.	.	ENSG00000137944	ENST00000370491;ENST00000260508;ENST00000370486	D;D;D	0.90900	-2.75;-2.75;-2.75	5.93	5.93	0.95920	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.502251	0.24889	N	0.034796	D	0.89431	0.6713	L	0.49126	1.545	0.80722	D	1	P	0.35959	0.53	P	0.47102	0.537	D	0.90114	0.4194	10	0.87932	D	0	-59.0461	14.1784	0.65557	0.0:0.0:0.7515:0.2485	.	255	Q6YP21	KAT3_HUMAN	C	221;255;255	ENSP00000359522:S221C;ENSP00000260508:S255C;ENSP00000359517:S255C	ENSP00000260508:S255C	S	-	2	0	CCBL2	89199461	0.982000	0.34865	0.999000	0.59377	0.995000	0.86356	1.617000	0.36943	2.814000	0.96858	0.655000	0.94253	TCT		0.383	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3		NM_001008661		28	110	0	0	0	0.008361	0	28	110		
LRRC8B	23507	broad.mit.edu	37	1	90049431	90049431	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:90049431G>C	ENST00000330947.2	+	5	1582	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q	LRRC8B_ENST00000439853.1_Missense_Mutation_p.E408Q|LRRC8B_ENST00000358200.4_Missense_Mutation_p.E408Q|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	408					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E408Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		ATGGACAGTTGAGAAACTGAA	0.383																																						uc001dni.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1222-1224)GAG>CAG		leucine rich repeat containing 8 family, member							74.0	75.0	75.0					1																	90049431		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90049431G>C	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1222G>C	1.37:g.90049431G>C	ENSP00000332674:p.Glu408Gln					LRRC8B_uc001dnh.2_Missense_Mutation_p.E408Q|LRRC8B_uc001dnj.2_Missense_Mutation_p.E408Q	p.E408Q	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	7	1729	+		all_lung(203;0.17)	408					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.1222G>C	CCDS724.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219887	0.79464	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.22945	1.93;1.93;1.93	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	M	0.65975	2.015	0.58432	D	0.999998	D	0.71674	0.998	D	0.75484	0.986	T	0.34601	-0.9822	10	0.56958	D	0.05	.	19.3136	0.94202	0.0:0.0:1.0:0.0	.	408	Q6P9F7	LRC8B_HUMAN	Q	408	ENSP00000332674:E408Q;ENSP00000350933:E408Q;ENSP00000400704:E408Q	ENSP00000332674:E408Q	E	+	1	0	LRRC8B	89822019	1.000000	0.71417	0.970000	0.41538	0.994000	0.84299	9.799000	0.99117	2.629000	0.89072	0.655000	0.94253	GAG		0.383	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1		NM_015350		22	89	0	0	0	0.012319	0	22	89		
TGFBR3	7049	broad.mit.edu	37	1	92193314	92193314	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:92193314G>C	ENST00000525962.1	-	6	848	c.787C>G	c.(787-789)Ctt>Gtt	p.L263V	TGFBR3_ENST00000212355.4_Missense_Mutation_p.L263V|TGFBR3_ENST00000370399.2_Missense_Mutation_p.L263V|TGFBR3_ENST00000468996.2_5'Flank			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	263					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.L263V(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ACCACTTCAAGATCCTCTTGA	0.383																																						uc001doh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(787-789)CTT>GTT		transforming growth factor, beta receptor III							93.0	89.0	90.0					1																	92193314		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92193314G>C	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.787C>G	1.37:g.92193314G>C	ENSP00000436127:p.Leu263Val					TGFBR3_uc009wde.2_Missense_Mutation_p.L41V|TGFBR3_uc010osy.1_Missense_Mutation_p.L221V|TGFBR3_uc001doi.2_Missense_Mutation_p.L263V|TGFBR3_uc001doj.2_Missense_Mutation_p.L263V	p.L263V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	7	1253	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	263			Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.787C>G	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	0.526	-0.860034	0.02610	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.16	3.18	0.36537	.	0.637081	0.18188	N	0.148933	T	0.03783	0.0107	N	0.22421	0.69	0.24392	N	0.994747	B;B;B	0.21381	0.002;0.055;0.002	B;B;B	0.20767	0.002;0.031;0.002	T	0.41928	-0.9481	10	0.02654	T	1	-1.535	1.8952	0.03256	0.2238:0.2051:0.4492:0.1219	.	263;263;263	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	V	263	ENSP00000212355:L263V;ENSP00000359426:L263V;ENSP00000436127:L263V;ENSP00000432638:L263V	ENSP00000212355:L263V	L	-	1	0	TGFBR3	91965902	0.855000	0.29742	0.984000	0.44739	0.700000	0.40528	0.911000	0.28584	0.951000	0.37770	-0.142000	0.14014	CTT		0.383	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1		NM_003243		18	74	0	0	0	0.007413	0	18	74		
CCDC18	343099	broad.mit.edu	37	1	93649605	93649605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:93649605C>T	ENST00000343253.7	+	3	707	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Nonsense_Mutation_p.Q69*|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000557479.1_Nonsense_Mutation_p.Q187*			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	69								p.Q187*(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTGGATGTTCAGCCTAGCCA	0.353																																						uc001dpq.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(559-561)CAG>TAG		sarcoma antigen NY-SAR-41							132.0	120.0	124.0					1																	93649605		1816	4083	5899	SO:0001587	stop_gained	343099							g.chr1:93649605C>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.205C>T	1.37:g.93649605C>T	ENSP00000343377:p.Gln69*						p.Q187*	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	3	727	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	69					Q6ZU17	Nonsense_Mutation	SNP	ENST00000343253.7	37	c.559C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.590715|4.590715	0.86851|0.86851	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479|ENST00000448243	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.163551|.	0.42682|.	D|.	0.000674|.	.|T	.|0.68192	.|0.2974	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65134	.|-0.6242	.|4	0.39692|.	T|.	0.17|.	.|.	17.2462|17.2462	0.87029|0.87029	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	69;69;187|115	.|.	ENSP00000343377:Q69X|.	Q|S	+|+	1|2	0|0	CCDC18|CCDC18	93422193|93422193	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.951000|0.951000	0.60555|0.60555	3.914000|3.914000	0.56401|0.56401	2.859000|2.859000	0.98148|0.98148	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.353	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1		NM_206886		43	134	0	0	0	0.011902	0	43	134		
FAM102B	284611	broad.mit.edu	37	1	109103109	109103109	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:109103109C>T	ENST00000370035.3	+	1	399	c.59C>T	c.(58-60)tCa>tTa	p.S20L	FAM102B_ENST00000405454.1_Missense_Mutation_p.S20L	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	20								p.S20L(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GAGCTCTCCTCAGTGCCCTTC	0.627																																						uc010ouy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(58-60)TCA>TTA		hypothetical protein LOC284611							49.0	53.0	52.0					1																	109103109		2203	4300	6503	SO:0001583	missense	284611							g.chr1:109103109C>T	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.59C>T	1.37:g.109103109C>T	ENSP00000359052:p.Ser20Leu						p.S20L	NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	1	139	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	20					A1L1A1|B0QZ46|B0QZ47|Q68DH7	Missense_Mutation	SNP	ENST00000370035.3	37	c.59C>T	CCDS30786.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375627	0.82682	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	T;T	0.39229	1.09;1.09	3.29	3.29	0.37713	.	.	.	.	.	T	0.46229	0.1382	L	0.42245	1.32	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	T	0.45906	-0.9229	9	0.45353	T	0.12	.	15.1013	0.72279	0.0:1.0:0.0:0.0	.	20	Q5T8I3	F102B_HUMAN	L	20	ENSP00000359052:S20L;ENSP00000386084:S20L	ENSP00000359052:S20L	S	+	2	0	FAM102B	108904632	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.153000	0.64888	1.828000	0.53243	0.455000	0.32223	TCA		0.627	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3		NM_001010883		18	62	0	0	0	0.006122	0	18	62		
RBM15	64783	broad.mit.edu	37	1	110882500	110882500	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:110882500C>T	ENST00000369784.3	+	1	1373	c.473C>T	c.(472-474)tCc>tTc	p.S158F	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Missense_Mutation_p.S158F|RBM15_ENST00000487146.2_Missense_Mutation_p.S158F	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	158	Gly/Ser-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S158F(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGGCCGCCTCCTCAGCTCCC	0.642			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dzl.1		NaN		Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(472-474)TCC>TTC		RNA binding motif protein 15							27.0	34.0	32.0					1																	110882500		2202	4300	6502	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882500C>T	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.473C>T	1.37:g.110882500C>T	ENSP00000358799:p.Ser158Phe		OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RBM15_uc001dzm.1_Missense_Mutation_p.S158F|uc001dzj.2_5'Flank	p.S158F	NM_022768	NP_073605	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	556	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	158			Gly/Ser-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.473C>T	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282012	0.40394	.	.	ENSG00000162775	ENST00000369784	T	0.46451	0.87	5.21	5.21	0.72293	.	0.000000	0.40818	N	0.001016	T	0.23249	0.0562	N	0.08118	0	0.31703	N	0.640442	D;D	0.58268	0.982;0.969	P;P	0.53224	0.721;0.53	T	0.07177	-1.0786	10	0.38643	T	0.18	-7.9076	15.5841	0.76468	0.0:1.0:0.0:0.0	.	158;158	Q96T37-3;Q96T37	.;RBM15_HUMAN	F	158	ENSP00000358799:S158F	ENSP00000358799:S158F	S	+	2	0	RBM15	110684023	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.264000	0.58859	2.706000	0.92434	0.655000	0.94253	TCC		0.642	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2		NM_022768		11	53	0	0	0	0.008291	0	11	53		
CHIA	27159	broad.mit.edu	37	1	111854982	111854982	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:111854982C>G	ENST00000369740.1	+	4	329	c.226C>G	c.(226-228)Ctc>Gtc	p.L76V	CHIA_ENST00000451398.2_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.L76V	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	76					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.L76V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TGATGTGACTCTCTACCAAGC	0.453																																						uc001eas.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(226-228)CTC>GTC		acidic chitinase isoform c							115.0	110.0	111.0					1																	111854982		1957	4147	6104	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111854982C>G	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.226C>G	1.37:g.111854982C>G	ENSP00000358755:p.Leu76Val					CHIA_uc001ear.2_Intron|CHIA_uc001eaq.2_Intron|CHIA_uc009wgc.2_Intron|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_Intron|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron	p.L76V	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	4	329	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	76					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.226C>G	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.280813	0.59758	.	.	ENSG00000134216	ENST00000369740;ENST00000343320	T;T	0.04809	3.55;3.55	4.7	2.7	0.31948	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.52532	U	0.000066	T	0.05090	0.0136	M	0.67953	2.075	0.80722	D	1	B	0.32507	0.373	P	0.46585	0.521	T	0.13764	-1.0497	10	0.51188	T	0.08	-8.7349	7.3959	0.26936	0.0:0.7226:0.1746:0.1028	.	76	Q9BZP6	CHIA_HUMAN	V	76	ENSP00000358755:L76V;ENSP00000341828:L76V	ENSP00000341828:L76V	L	+	1	0	CHIA	111656505	0.269000	0.24143	0.909000	0.35828	0.939000	0.58152	0.916000	0.28651	0.432000	0.26286	0.655000	0.94253	CTC		0.453	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1				42	116	0	0	0	0.010771	0	42	116		
SLC16A1	6566	broad.mit.edu	37	1	113460506	113460506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:113460506C>T	ENST00000538576.1	-	4	1353	c.522G>A	c.(520-522)tgG>tgA	p.W174*	SLC16A1_ENST00000369626.3_Nonsense_Mutation_p.W174*|SLC16A1_ENST00000433570.4_Nonsense_Mutation_p.W174*	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	174					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.W174*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	AGCTTCCTCTCCATCCAAAGA	0.557																																						uc001ecx.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(520-522)TGG>TGA		solute carrier family 16, member 1	Pyruvic acid(DB00119)						52.0	54.0	54.0					1																	113460506		2203	4300	6503	SO:0001587	stop_gained	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113460506C>T	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.522G>A	1.37:g.113460506C>T	ENSP00000441065:p.Trp174*					SLC16A1_uc001ecy.2_Nonsense_Mutation_p.W174*|SLC16A1_uc001ecz.2_Nonsense_Mutation_p.W174*	p.W174*	NM_003051	NP_003042	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	4	1354	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	174			Helical; (Potential).		Q49A45|Q5T8R6|Q9NSJ9	Nonsense_Mutation	SNP	ENST00000538576.1	37	c.522G>A	CCDS858.1	.	.	.	.	.	.	.	.	.	.	C	38	6.672072	0.97751	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580;ENST00000429288	.	.	.	5.74	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.855	0.70329	0.0:0.9302:0.0:0.0698	.	.	.	.	X	174	.	ENSP00000358640:W174X	W	-	3	0	SLC16A1	113262029	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.767000	0.85331	1.571000	0.49722	0.563000	0.77884	TGG		0.557	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1		NM_003051		21	73	0	0	0	0.008871	0	21	73		
NOTCH2	4853	broad.mit.edu	37	1	120529700	120529700	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:120529700C>G	ENST00000256646.2	-	5	976	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	253	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.E253Q(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGCTCCCTTCAAAACCTGGT	0.453			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NaN		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - Missense(1)		urinary_tract(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(757-759)GAA>CAA		notch 2 preproprotein							95.0	94.0	94.0					1																	120529700		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120529700C>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.757G>C	1.37:g.120529700C>G	ENSP00000256646:p.Glu253Gln					NOTCH2_uc001eil.2_Missense_Mutation_p.E253Q|NOTCH2_uc001eim.3_Missense_Mutation_p.E170Q	p.E253Q	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1013	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	253			EGF-like 6.|Extracellular (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.757G>C	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.691076	0.30052	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.87491	-2.26	6.06	6.06	0.98353	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38837	U	0.001550	T	0.65995	0.2745	N	0.20807	0.61	0.38068	D	0.936275	P;P;P	0.43094	0.704;0.615;0.799	B;B;B	0.35971	0.162;0.215;0.212	T	0.69423	-0.5149	10	0.15952	T	0.53	.	14.7953	0.69873	0.0:0.9295:0.0:0.0705	.	214;253;253	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	Q	253;214	ENSP00000256646:E253Q	ENSP00000256646:E253Q	E	-	1	0	NOTCH2	120331223	0.996000	0.38824	1.000000	0.80357	0.987000	0.75469	1.222000	0.32515	2.882000	0.98803	0.655000	0.94253	GAA		0.453	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408		17	63	0	0	0	0.004007	0	17	63		
Unknown	0	broad.mit.edu	37	1	144619367	144619367	+	IGR	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:144619367G>A								RP11-640M9.2 (13476 upstream) : NBPF9 (192376 downstream)																							AGATGAGGATGAAGATGTTCA	0.418																																						uc009wig.1		NaN																	0					0						c.(514-516)GAA>AAA		hypothetical protein LOC400818																																				SO:0001628	intergenic_variant	400818					cytoplasm		g.chr1:144619367G>A																													1.37:g.144619367G>A						NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.E172K|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Missense_Mutation_p.E103K|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Missense_Mutation_p.E103K|NBPF9_uc010oyg.1_Missense_Mutation_p.E137K|NBPF9_uc009wii.1_Intron	p.E172K	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			7	590	+			172			NBPF 1.			Missense_Mutation	SNP		37	c.514G>A																																																																																				0	0.418										34	396	0	0	0	0.009718	0	34	396		
Unknown	0	broad.mit.edu	37	1	144619391	144619391	+	IGR	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:144619391G>A								RP11-640M9.2 (13500 upstream) : NBPF9 (192352 downstream)																							TGAGGAGGATGAGAAAGTGCA	0.418																																						uc009wig.1		NaN																	0					0						c.(538-540)GAG>AAG		hypothetical protein LOC400818																																				SO:0001628	intergenic_variant	400818					cytoplasm		g.chr1:144619391G>A																													1.37:g.144619391G>A						NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.E180K|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Missense_Mutation_p.E111K|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Missense_Mutation_p.E111K|NBPF9_uc010oyg.1_Missense_Mutation_p.E145K|NBPF9_uc009wii.1_Intron	p.E180K	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			7	614	+			180			NBPF 1.			Missense_Mutation	SNP		37	c.538G>A																																																																																				0	0.418										44	431	0	0	0	0.01441	0	44	431		
NBPF12	149013	broad.mit.edu	37	1	146399560	146399560	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:146399560G>C	ENST00000442909.2	+	8	1335	c.499G>C	c.(499-501)Gat>Cat	p.D167H	NBPF12_ENST00000309471.8_Missense_Mutation_p.D92H|NBPF12_ENST00000446760.2_Missense_Mutation_p.D167H			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	0	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.D167H(2)		ovary(2)	2						TATAGAAAATGATGAAGATGA	0.413																																						uc001emp.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1312-1314)GAT>CAT		hypothetical protein LOC55672																																				SO:0001583	missense	100132406							g.chr1:146399560G>C	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.499G>C	1.37:g.146399560G>C	ENSP00000391116:p.Asp167His					uc010ozk.1_5'UTR	p.D438H	NM_017940	NP_060410	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	14	2510	+	all_hematologic(923;0.032)		167					O95877	Missense_Mutation	SNP	ENST00000442909.2	37	c.1312G>C		.	.	.	.	.	.	.	.	.	.	N	4.505	0.093661	0.08632	.	.	ENSG00000186275	ENST00000446760;ENST00000442909;ENST00000309471	T;T;T	0.45276	3.94;4.07;0.9	1.13	-2.27	0.06846	.	.	.	.	.	T	0.28267	0.0698	M	0.70595	2.14	0.09310	N	1	D	0.58970	0.984	D	0.65323	0.934	T	0.31364	-0.9946	9	0.10377	T	0.69	.	3.5423	0.07816	0.0:0.3281:0.208:0.4638	.	167	Q86T75-2	.	H	167;167;92	ENSP00000396525:D167H;ENSP00000391116:D167H;ENSP00000311131:D92H	ENSP00000311131:D92H	D	+	1	0	NBPF12	144764650	0.001000	0.12720	0.000000	0.03702	0.076000	0.17211	-1.384000	0.02542	-1.590000	0.01623	-1.225000	0.01585	GAT		0.413	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3		XM_003119146		25	153	0	0	0	0.007835	0	25	153		
CGN	57530	broad.mit.edu	37	1	151498241	151498241	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:151498241G>T	ENST00000271636.7	+	9	1871	c.1738G>T	c.(1738-1740)Gag>Tag	p.E580*	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	574	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.E580*(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAAGAACAAGGAGGATCTTAG	0.468																																						uc009wmw.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(1738-1740)GAG>TAG		cingulin							84.0	74.0	77.0					1																	151498241		2203	4300	6503	SO:0001587	stop_gained	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151498241G>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1738G>T	1.37:g.151498241G>T	ENSP00000271636:p.Glu580*						p.E580*	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		9	1882	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		574			Glu-rich.|Potential.		A6H8L3|A7MD22|Q5T386|Q9NR25	Nonsense_Mutation	SNP	ENST00000271636.7	37	c.1738G>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	40	8.149662	0.98678	.	.	ENSG00000143375	ENST00000271636	.	.	.	4.35	4.35	0.52113	.	0.215636	0.48286	D	0.000200	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-18.9389	15.9802	0.80102	0.0:0.0:1.0:0.0	.	.	.	.	X	580	.	ENSP00000271636:E580X	E	+	1	0	CGN	149764865	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.816000	0.69222	2.409000	0.81822	0.655000	0.94253	GAG		0.468	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3		NM_020770		10	45	1	0	1.58986e-06	0.008291	1.61776e-06	10	45		
TCHH	7062	broad.mit.edu	37	1	152083887	152083887	+	Silent	SNP	C	C	T	rs115769840	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:152083887C>T	ENST00000368804.1	-	2	1805	c.1806G>A	c.(1804-1806)ctG>ctA	p.L602L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	602	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.L602L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCGCGCTTCAGTCGCTGCT	0.677																																						uc001ezp.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1804-1806)CTG>CTA		trichohyalin							38.0	43.0	41.0					1																	152083887		1961	4144	6105	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083887C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1806G>A	1.37:g.152083887C>T						TCHH_uc009wne.1_Silent_p.L602L	p.L602L	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1806	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		602			9 X 28 AA approximate tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.1806G>A	CCDS41396.1																																																																																				0.677	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		11	66	0	0	0	0.012319	0	11	66		
FLG2	388698	broad.mit.edu	37	1	152328793	152328793	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:152328793G>A	ENST00000388718.5	-	3	1541	c.1469C>T	c.(1468-1470)tCt>tTt	p.S490F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	490	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S490F(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGCCAGAGGACTGACC	0.527																																						uc001ezw.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(1468-1470)TCT>TTT		filaggrin family member 2							223.0	222.0	223.0					1																	152328793		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328793G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1469C>T	1.37:g.152328793G>A	ENSP00000373370:p.Ser490Phe					uc001ezv.2_Intron	p.S490F	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1542	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		490			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1469C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507848	0.64410	.	.	ENSG00000143520	ENST00000388718	T	0.23552	1.9	4.47	4.47	0.54385	.	.	.	.	.	T	0.34454	0.0898	M	0.69823	2.125	0.29126	N	0.879961	D	0.89917	1.0	D	0.70716	0.97	T	0.09574	-1.0668	9	0.52906	T	0.07	.	9.8348	0.40963	0.0:0.0:0.7954:0.2045	.	490	Q5D862	FILA2_HUMAN	F	490	ENSP00000373370:S490F	ENSP00000373370:S490F	S	-	2	0	FLG2	150595417	0.055000	0.20627	0.924000	0.36721	0.741000	0.42261	2.668000	0.46816	2.324000	0.78689	0.655000	0.94253	TCT		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		100	290	0	0	0	0.01441	0	100	290		
SPRR2F	6705	broad.mit.edu	37	1	153085095	153085095	+	Missense_Mutation	SNP	A	A	G	rs533901980		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:153085095A>G	ENST00000468739.1	-	2	175	c.115T>C	c.(115-117)Tca>Cca	p.S39P	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	39	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)		p.S39P(1)		large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGACACTTTGATGGTGGGCAG	0.632													a|||	1	0.000199681	0.0008	0.0	5008	,	,		16569	0.0		0.0	False		,,,				2504	0.0					uc001fbi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(115-117)TCA>CCA		small proline-rich protein 2F							204.0	179.0	187.0					1																	153085095		2203	4300	6503	SO:0001583	missense	6705				keratinization	cornified envelope|cytoplasm		g.chr1:153085095A>G	AF333956	CCDS30867.1	1q21-q22	2008-02-05			ENSG00000244094	ENSG00000244094			11266	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014450		Approved		uc001fbi.3	Q96RM1	OTTHUMG00000014398	ENST00000468739.1:c.115T>C	1.37:g.153085095A>G	ENSP00000418193:p.Ser39Pro					SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	p.S39P	NM_001014450	NP_001014450	Q96RM1	SPR2F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	174	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		39			3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.|3.		Q5T9T3	Missense_Mutation	SNP	ENST00000468739.1	37	c.115T>C	CCDS30867.1	.	.	.	.	.	.	.	.	.	.	A	0.901	-0.722212	0.03182	.	.	ENSG00000244094	ENST00000468739	T	0.14266	2.52	3.96	0.902	0.19290	.	0.234511	0.22223	N	0.062937	T	0.02807	0.0084	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39440	-0.9614	9	0.87932	D	0	.	3.9959	0.09558	0.2109:0.0:0.6071:0.1819	.	39	Q96RM1	SPR2F_HUMAN	P	39	ENSP00000418193:S39P	ENSP00000418193:S39P	S	-	1	0	SPRR2F	151351719	0.001000	0.12720	0.002000	0.10522	0.051000	0.14879	0.388000	0.20735	0.009000	0.14813	-0.814000	0.03130	TCA		0.632	SPRR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040056.1				70	282	0	0	0	0.01441	0	70	282		
UBAP2L	9898	broad.mit.edu	37	1	154233401	154233401	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:154233401C>A	ENST00000361546.2	+	22	2654	c.2612C>A	c.(2611-2613)tCc>tAc	p.S871Y	SNORA58_ENST00000364259.1_RNA|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S871Y|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S882Y|UBAP2L_ENST00000428931.1_Missense_Mutation_p.S871Y			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	871					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.S871Y(2)|p.S367Y(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGGATGCCTCCTCCCCAGCC	0.567																																						uc001fep.3		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(1)|central_nervous_system(1)	2						c.(2611-2613)TCC>TAC		ubiquitin associated protein 2-like isoform a							72.0	72.0	72.0					1																	154233401		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154233401C>A	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2612C>A	1.37:g.154233401C>A	ENSP00000355343:p.Ser871Tyr					UBAP2L_uc009wot.2_Missense_Mutation_p.S871Y|UBAP2L_uc010pek.1_Missense_Mutation_p.S863Y|UBAP2L_uc010pel.1_Missense_Mutation_p.S881Y|UBAP2L_uc010pen.1_Missense_Mutation_p.S785Y|UBAP2L_uc001feq.2_Missense_Mutation_p.S67Y|UBAP2L_uc001fer.2_Missense_Mutation_p.S67Y	p.S871Y	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		23	2779	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		871					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.2612C>A	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835637	0.91117	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D;D;D	0.69078	0.994;0.997;0.997;0.997;0.99;0.994;0.997	D;D;D;D;D;D;D	0.80764	0.987;0.994;0.991;0.991;0.974;0.983;0.974	T	0.53892	-0.8374	10	0.87932	D	0	-9.2101	17.9549	0.89065	0.0:1.0:0.0:0.0	.	785;882;864;871;367;871;871	B4DZJ6;F8W726;Q14157-4;Q14157-1;C9JD99;Q14157-3;Q14157	.;.;.;.;.;.;UBP2L_HUMAN	Y	871;871;367;367;882;871	ENSP00000345308:S871Y;ENSP00000389445:S871Y;ENSP00000271877:S882Y;ENSP00000355343:S871Y	ENSP00000271877:S882Y	S	+	2	0	UBAP2L	152500025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.715000	0.92844	0.555000	0.69702	TCC		0.567	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1		NM_014847		16	80	1	0	2.31682e-05	0.003163	2.34717e-05	16	80		
THBS3	7059	broad.mit.edu	37	1	155172609	155172609	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:155172609G>A	ENST00000368378.3	-	8	971	c.951C>T	c.(949-951)atC>atT	p.I317I	THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Silent_p.I197I|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	317	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.I317I(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCACCTCATTGATGTCACTGC	0.612																																						uc001fix.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(3)|ovary(2)	5						c.(949-951)ATC>ATT		thrombospondin 3 precursor							56.0	58.0	58.0					1																	155172609		2203	4299	6502	SO:0001819	synonymous_variant	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155172609G>A	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.951C>T	1.37:g.155172609G>A						RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.I308I|THBS3_uc001fiz.2_Silent_p.I317I|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Silent_p.I197I|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA	p.I317I	NM_007112	NP_009043	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	974	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		317			EGF-like 2; calcium-binding (Potential).		B1AVR8|B4DQ20|Q8WV34	Silent	SNP	ENST00000368378.3	37	c.951C>T	CCDS1099.1																																																																																				0.612	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1		NM_007112		34	96	0	0	0	0.003755	0	34	96		
PKLR	5313	broad.mit.edu	37	1	155264172	155264172	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:155264172C>T	ENST00000342741.4	-	7	1008	c.970G>A	c.(970-972)Gat>Aat	p.D324N	PKLR_ENST00000392414.3_Missense_Mutation_p.D293N	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	324					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.D324N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGATTTCATCAAACCTGAGA	0.562																																						uc001fkb.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|ovary(1)	5						c.(970-972)GAT>AAT		pyruvate kinase, liver and RBC isoform 1	Pyruvic acid(DB00119)						70.0	66.0	67.0					1																	155264172		2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155264172C>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.970G>A	1.37:g.155264172C>T	ENSP00000339933:p.Asp324Asn					RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.D293N	p.D324N	NM_000298	NP_000289	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		7	1009	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		324					O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.970G>A	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723587	0.68959	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99671	-6.35;-6.35	5.13	4.21	0.49690	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.100457	0.64402	N	0.000002	D	0.98573	0.9523	M	0.79805	2.47	0.80722	D	1	B;B	0.16802	0.019;0.019	B;B	0.24006	0.05;0.05	D	0.99973	1.2068	10	0.66056	D	0.02	-15.1998	11.7763	0.51987	0.0:0.9144:0.0:0.0856	.	324;315	P30613;B1AVT1	KPYR_HUMAN;.	N	349;293;324;238	ENSP00000376214:D293N;ENSP00000339933:D324N	ENSP00000271946:D238N	D	-	1	0	PKLR	153530796	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.797000	0.69087	1.530000	0.49136	0.655000	0.94253	GAT		0.562	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2		NM_000298		15	51	0	0	0	0.00499	0	15	51		
ASH1L	55870	broad.mit.edu	37	1	155450350	155450350	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:155450350C>G	ENST00000368346.3	-	3	2950	c.2311G>C	c.(2311-2313)Gat>Cat	p.D771H	ASH1L_ENST00000392403.3_Missense_Mutation_p.D771H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	771					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.D771H(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAGTCATGATCTACAAATGAA	0.383																																						uc009wqq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(2311-2313)GAT>CAT		absent, small, or homeotic 1-like							144.0	146.0	146.0					1																	155450350		2202	4299	6501	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155450350C>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2311G>C	1.37:g.155450350C>G	ENSP00000357330:p.Asp771His					ASH1L_uc001fkt.2_Missense_Mutation_p.D771H|ASH1L_uc009wqr.1_Missense_Mutation_p.D771H	p.D771H	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	2791	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		771					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.2311G>C		.	.	.	.	.	.	.	.	.	.	C	13.83	2.352812	0.41700	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89810	-2.57;-2.57	5.44	5.44	0.79542	.	0.130569	0.49916	D	0.000131	T	0.81389	0.4812	N	0.08118	0	0.80722	D	1	B;P	0.35656	0.38;0.514	B;P	0.46758	0.326;0.526	D	0.85338	0.1094	10	0.72032	D	0.01	.	17.208	0.86923	0.0:1.0:0.0:0.0	.	771;771	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	H	771	ENSP00000357330:D771H;ENSP00000376204:D771H	ENSP00000357330:D771H	D	-	1	0	ASH1L	153716974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.506000	0.66993	2.836000	0.97738	0.650000	0.86243	GAT		0.383	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489		53	179	0	0	0	0.01441	0	53	179		
FCRL5	83416	broad.mit.edu	37	1	157504671	157504671	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:157504671G>A	ENST00000361835.3	-	8	1571	c.1414C>T	c.(1414-1416)Cat>Tat	p.H472Y	FCRL5_ENST00000368189.3_Missense_Mutation_p.H472Y|FCRL5_ENST00000368191.3_Missense_Mutation_p.H387Y|FCRL5_ENST00000356953.4_Missense_Mutation_p.H472Y|FCRL5_ENST00000368190.3_Missense_Mutation_p.H472Y	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	472					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.H472Y(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGACAGGATGAGACACAGGG	0.493																																						uc001fqu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(1414-1416)CAT>TAT		Fc receptor-like 5							44.0	45.0	44.0					1																	157504671		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157504671G>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1414C>T	1.37:g.157504671G>A	ENSP00000354691:p.His472Tyr					FCRL5_uc009wsm.2_Missense_Mutation_p.H472Y|FCRL5_uc010phv.1_Missense_Mutation_p.H472Y|FCRL5_uc010phw.1_Missense_Mutation_p.H387Y|FCRL5_uc001fqv.1_Missense_Mutation_p.H472Y|FCRL5_uc010phx.1_Missense_Mutation_p.H223Y	p.H472Y	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			8	1572	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	472			Extracellular (Potential).		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1414C>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	8.903	0.956872	0.18507	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.03301	3.98;3.98;3.98;3.98;3.98	3.34	1.37	0.22104	.	.	.	.	.	T	0.01940	0.0061	L	0.56769	1.78	0.24552	N	0.994016	B;P;P;P;P;P	0.50369	0.089;0.49;0.855;0.866;0.714;0.934	B;B;P;B;B;B	0.45071	0.211;0.231;0.468;0.207;0.284;0.355	T	0.43925	-0.9361	9	0.54805	T	0.06	.	4.797	0.13277	0.1271:0.2205:0.6523:0.0	.	503;387;472;472;472;472	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	Y	472;472;472;387;472	ENSP00000354691:H472Y;ENSP00000349434:H472Y;ENSP00000357173:H472Y;ENSP00000357174:H387Y;ENSP00000357172:H472Y	ENSP00000349434:H472Y	H	-	1	0	FCRL5	155771295	0.858000	0.29795	0.185000	0.23176	0.004000	0.04260	1.133000	0.31430	0.226000	0.20979	-0.671000	0.03813	CAT		0.493	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1		NM_031281		22	59	0	0	0	0.014323	0	22	59		
CD1E	913	broad.mit.edu	37	1	158323802	158323802	+	Missense_Mutation	SNP	C	C	G	rs376989417		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:158323802C>G	ENST00000368167.3	+	1	263	c.24C>G	c.(22-24)ttC>ttG	p.F8L	CD1E_ENST00000434258.1_Intron|CD1E_ENST00000368157.1_Missense_Mutation_p.F8L|CD1E_ENST00000368154.1_Missense_Mutation_p.F8L|CD1E_ENST00000444681.2_Missense_Mutation_p.F8L|CD1E_ENST00000452291.2_Missense_Mutation_p.F8L|CD1E_ENST00000368161.3_Missense_Mutation_p.F8L|CD1E_ENST00000368160.3_Missense_Mutation_p.F8L|CD1E_ENST00000368163.3_Missense_Mutation_p.F8L|CD1E_ENST00000368166.3_Missense_Mutation_p.F8L|CD1E_ENST00000368156.1_Missense_Mutation_p.F8L|CD1E_ENST00000368155.3_Missense_Mutation_p.F8L|CD1E_ENST00000368164.3_Missense_Mutation_p.F8L|CD1E_ENST00000368165.3_Missense_Mutation_p.F8L	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	8					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.F8L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCCTCCTCTTCGAGGGTCTCT	0.522																																						uc001fse.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)	3						c.(22-24)TTC>TTG		CD1E antigen isoform a precursor							93.0	87.0	89.0					1																	158323802		1906	4126	6032	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158323802C>G	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.24C>G	1.37:g.158323802C>G	ENSP00000357149:p.Phe8Leu					CD1E_uc010pid.1_Intron|CD1E_uc010pie.1_Missense_Mutation_p.F8L|CD1E_uc010pif.1_Missense_Mutation_p.F8L|CD1E_uc001fsd.2_Missense_Mutation_p.F8L|CD1E_uc001fsk.2_Missense_Mutation_p.F8L|CD1E_uc001fsj.2_Missense_Mutation_p.F8L|CD1E_uc001fsc.2_Missense_Mutation_p.F8L|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.F8L|CD1E_uc001fsf.2_Missense_Mutation_p.F8L|CD1E_uc001fry.2_Missense_Mutation_p.F8L|CD1E_uc001fsg.2_Missense_Mutation_p.F8L|CD1E_uc001fsh.2_Missense_Mutation_p.F8L|CD1E_uc001fsi.2_Missense_Mutation_p.F8L|CD1E_uc009wsv.2_Missense_Mutation_p.F8L|CD1E_uc001frz.2_Missense_Mutation_p.F8L|CD1E_uc009wsw.2_5'Flank	p.F8L	NM_030893	NP_112155	P15812	CD1E_HUMAN			1	263	+	all_hematologic(112;0.0378)		8					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.24C>G	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445535	0.25987	.	.	ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368164;ENST00000368157;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155;ENST00000368154	T;T;T;T;T;T;T;T;T;T;T;T;T	0.55234	5.04;4.69;3.34;3.62;3.56;3.67;0.53;0.71;4.76;4.09;3.82;3.69;0.67	3.42	-0.605	0.11623	.	1.579610	0.04174	N	0.325292	T	0.09992	0.0245	N	0.16833	0.445	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.32620	0.059;0.013;0.013;0.098;0.098;0.098;0.098;0.098;0.059;0.098;0.098;0.378;0.098;0.098	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.28991	0.015;0.002;0.002;0.035;0.035;0.035;0.035;0.035;0.015;0.035;0.035;0.097;0.035;0.035	T	0.05835	-1.0861	10	0.02654	T	1	-6.0515	6.4171	0.21721	0.0:0.5418:0.0:0.4582	.	8;8;8;8;8;8;8;8;8;8;8;8;8;8	B4E057;B4E042;E7EP01;P15812-5;P15812-7;P15812-9;P15812-10;P15812-2;P15812;P15812-3;P15812-8;P15812-11;P15812-6;P15812-4	.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.;.;.;.	L	8	ENSP00000402906:F8L;ENSP00000357149:F8L;ENSP00000416228:F8L;ENSP00000357147:F8L;ENSP00000357148:F8L;ENSP00000357145:F8L;ENSP00000357146:F8L;ENSP00000357139:F8L;ENSP00000357142:F8L;ENSP00000357143:F8L;ENSP00000357138:F8L;ENSP00000357137:F8L;ENSP00000357136:F8L	ENSP00000357136:F8L	F	+	3	2	CD1E	156590426	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.069000	0.03444	-0.108000	0.12066	-0.986000	0.02555	TTC		0.522	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3		NM_030893		17	72	0	0	0	0.010504	0	17	72		
OR10K2	391107	broad.mit.edu	37	1	158390393	158390393	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:158390393C>G	ENST00000314902.2	-	1	263	c.264G>C	c.(262-264)caG>caC	p.Q88H		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q88H(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TGGTCTTCTTCTGGGACAGCA	0.478																																						uc010pii.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(262-264)CAG>CAC		olfactory receptor, family 10, subfamily K,							174.0	168.0	170.0					1																	158390393		2203	4300	6503	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390393C>G	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.264G>C	1.37:g.158390393C>G	ENSP00000324251:p.Gln88His						p.Q88H	NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN			1	264	-	all_hematologic(112;0.0378)		88			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000314902.2	37	c.264G>C	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	C	2.136	-0.397847	0.04865	.	.	ENSG00000180708	ENST00000314902	T	0.03065	4.06	4.1	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.492580	0.17156	N	0.184866	T	0.00695	0.0023	N	0.16903	0.455	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.47774	-0.9091	10	0.41790	T	0.15	.	3.2017	0.06652	0.1824:0.4334:0.0:0.3842	.	88	Q6IF99	O10K2_HUMAN	H	88	ENSP00000324251:Q88H	ENSP00000324251:Q88H	Q	-	3	2	OR10K2	156657017	0.000000	0.05858	0.107000	0.21349	0.284000	0.27059	-0.312000	0.08113	0.112000	0.17975	0.467000	0.42956	CAG		0.478	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1		NM_001004476		60	172	0	0	0	0.01441	0	60	172		
PYHIN1	149628	broad.mit.edu	37	1	158908911	158908911	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:158908911G>C	ENST00000368140.1	+	4	698	c.453G>C	c.(451-453)agG>agC	p.R151S	PYHIN1_ENST00000392252.3_Missense_Mutation_p.R142S|PYHIN1_ENST00000368138.3_Missense_Mutation_p.R142S|PYHIN1_ENST00000368135.4_Missense_Mutation_p.R151S|PYHIN1_ENST00000392254.2_Missense_Mutation_p.R151S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	151					cell cycle (GO:0007049)	nucleus (GO:0005634)		p.R151S(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GAACCAAAAGGAGTAAGATGT	0.463																																						uc001ftb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|pancreas(1)	4						c.(451-453)AGG>AGC		pyrin and HIN domain family, member 1 alpha 1							85.0	81.0	82.0					1																	158908911		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158908911G>C	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.453G>C	1.37:g.158908911G>C	ENSP00000357122:p.Arg151Ser					PYHIN1_uc001fta.3_Missense_Mutation_p.R151S|PYHIN1_uc001ftc.2_Missense_Mutation_p.R142S|PYHIN1_uc001ftd.2_Missense_Mutation_p.R151S|PYHIN1_uc001fte.2_Missense_Mutation_p.R142S	p.R151S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			4	698	+	all_hematologic(112;0.0378)		151					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.453G>C	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707113	0.30232	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T	0.26518	3.3;3.44;3.39;3.44;1.73	2.14	0.179	0.15063	.	.	.	.	.	T	0.09905	0.0243	L	0.48642	1.525	0.09310	N	1	P;P;P;P;P	0.50443	0.935;0.935;0.935;0.893;0.859	B;B;P;B;B	0.46026	0.423;0.423;0.501;0.4;0.37	T	0.11227	-1.0596	8	.	.	.	.	4.2944	0.10894	0.3667:0.0:0.6333:0.0	.	142;151;142;151;151	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	S	151;142;151;142;151	ENSP00000357122:R151S;ENSP00000357120:R142S;ENSP00000376083:R151S;ENSP00000376082:R142S;ENSP00000357117:R151S	.	R	+	3	2	PYHIN1	157175535	0.001000	0.12720	0.001000	0.08648	0.009000	0.06853	0.393000	0.20817	0.039000	0.15632	0.460000	0.39030	AGG		0.463	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1		NM_152501		16	49	0	0	0	0.004007	0	16	49		
ITLN2	142683	broad.mit.edu	37	1	160914989	160914989	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:160914989C>T	ENST00000368029.3	-	8	976	c.919G>A	c.(919-921)Gtt>Att	p.V307I	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	307						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.V307I(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTGCTCTTAACGTGAGTTCCA	0.557																																						uc001fxd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(919-921)GTT>ATT		intelectin 2 precursor							75.0	64.0	68.0					1																	160914989		2203	4300	6503	SO:0001583	missense	142683				signal transduction	extracellular region	receptor binding|sugar binding	g.chr1:160914989C>T	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.919G>A	1.37:g.160914989C>T	ENSP00000357008:p.Val307Ile					ITLN2_uc009wts.2_Missense_Mutation_p.V306I|ITLN2_uc010pju.1_Missense_Mutation_p.V224I	p.V307I	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		8	977	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		307					Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	c.919G>A	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	C	6.689	0.495664	0.12762	.	.	ENSG00000158764	ENST00000368029	T	0.17213	2.29	4.17	-3.86	0.04230	.	15.173300	0.00357	N	0.000030	T	0.01523	0.0049	N	0.04203	-0.255	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.002	T	0.33471	-0.9867	10	0.18276	T	0.48	21.4868	1.8394	0.03147	0.1444:0.3628:0.1484:0.3444	.	306;307	A6NI51;Q8WWU7	.;ITLN2_HUMAN	I	307	ENSP00000357008:V307I	ENSP00000357008:V307I	V	-	1	0	ITLN2	159181613	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-1.206000	0.03011	-1.046000	0.03246	-1.358000	0.01219	GTT		0.557	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1		NM_080878		18	65	0	0	0	0.007413	0	18	65		
ADAMTS4	9507	broad.mit.edu	37	1	161166037	161166037	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:161166037G>A	ENST00000367996.5	-	3	1442	c.1014C>T	c.(1012-1014)gtC>gtT	p.V338V	ADAMTS4_ENST00000478394.1_5'Flank|ADAMTS4_ENST00000367995.3_3'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	338	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.V338V(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CCGGGTCACAGACGGTGCCCA	0.567																																						uc001fyt.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(4)|central_nervous_system(1)	5						c.(1012-1014)GTC>GTT		ADAM metallopeptidase with thrombospondin type 1							93.0	87.0	89.0					1																	161166037		2203	4300	6503	SO:0001819	synonymous_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161166037G>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1014C>T	1.37:g.161166037G>A						ADAMTS4_uc001fyu.2_3'UTR	p.V338V	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	1442	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		338			Peptidase M12B.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	ENST00000367996.5	37	c.1014C>T	CCDS1223.1																																																																																				0.567	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2		NM_005099		12	53	0	0	0	0.00245	0	12	53		
PRRC2C	23215	broad.mit.edu	37	1	171509701	171509701	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:171509701G>C	ENST00000338920.4	+	16	3327	c.3090G>C	c.(3088-3090)caG>caC	p.Q1030H	PRRC2C_ENST00000367742.3_Missense_Mutation_p.Q1032H|PRRC2C_ENST00000426496.2_Missense_Mutation_p.Q1030H|PRRC2C_ENST00000392078.3_Missense_Mutation_p.Q1032H	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1030					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.Q1032H(2)									AACGGGAACAGAGGAAGGAGA	0.433																																						uc010pmg.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(3088-3090)CAG>CAC		HBxAg transactivated protein 2							67.0	64.0	65.0					1																	171509701		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171509701G>C	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3090G>C	1.37:g.171509701G>C	ENSP00000343629:p.Gln1030His					BAT2L2_uc010pmh.1_Missense_Mutation_p.Q7H	p.Q1030H	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			16	3356	+			1030			Potential.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.3090G>C	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	7.490	0.650523	0.14516	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.02236	4.38;4.38;4.38;4.38	5.98	-5.5	0.02576	.	0.162942	0.28724	N	0.014358	T	0.02083	0.0065	L	0.34521	1.04	0.34360	D	0.690864	P	0.51537	0.946	P	0.55161	0.77	T	0.00006	-1.2513	10	0.87932	D	0	.	20.3694	0.98890	0.222:0.0:0.778:0.0	.	1030	Q9Y520-4	.	H	1032;1031;1030;1032;1030;787	ENSP00000375928:Q1032H;ENSP00000410219:Q1030H;ENSP00000356716:Q1032H;ENSP00000343629:Q1030H	ENSP00000343629:Q1030H	Q	+	3	2	PRRC2C	169776325	0.995000	0.38212	0.641000	0.29422	0.855000	0.48748	0.303000	0.19210	-1.200000	0.02662	-0.312000	0.09012	CAG		0.433	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4		NM_015172		11	43	0	0	0	0.008291	0	11	43		
MYOC	4653	broad.mit.edu	37	1	171621260	171621260	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:171621260C>T	ENST00000037502.6	-	1	563	c.492G>A	c.(490-492)gaG>gaA	p.E164E		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	164					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)	p.E164E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGCCAGATTCTCATTTTCTT	0.562																																						uc001ghu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)	1						c.(490-492)GAG>GAA		myocilin precursor							201.0	218.0	212.0					1																	171621260		2203	4300	6503	SO:0001819	synonymous_variant	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171621260C>T	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.492G>A	1.37:g.171621260C>T						MYOC_uc010pmk.1_Silent_p.E106E	p.E164E	NM_000261	NP_000252	Q99972	MYOC_HUMAN			1	514	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		164			Potential.		B2RD84|O00620|Q7Z6Q9	Silent	SNP	ENST00000037502.6	37	c.492G>A	CCDS1297.1																																																																																				0.562	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2		NM_000261		106	414	0	0	0	0.01441	0	106	414		
ZBTB37	84614	broad.mit.edu	37	1	173839997	173839997	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:173839997C>G	ENST00000367701.5	+	2	825	c.634C>G	c.(634-636)Ctt>Gtt	p.L212V	ZBTB37_ENST00000432989.1_Missense_Mutation_p.L212V|ZBTB37_ENST00000427304.1_Missense_Mutation_p.L212V|ZBTB37_ENST00000367702.1_Missense_Mutation_p.L212V|ZBTB37_ENST00000367704.1_Missense_Mutation_p.L212V			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	212					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.L212V(2)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GGAGCCCATTCTTCGGATCAA	0.532																																						uc009wwp.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(634-636)CTT>GTT		zinc finger and BTB domain containing 37 isoform							62.0	63.0	63.0					1																	173839997		2203	4300	6503	SO:0001583	missense	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173839997C>G	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.634C>G	1.37:g.173839997C>G	ENSP00000356674:p.Leu212Val					GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.L212V|ZBTB37_uc001gjq.3_Missense_Mutation_p.L212V|ZBTB37_uc001gjr.2_Missense_Mutation_p.L212V	p.L212V	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN			3	910	+			212					Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	c.634C>G	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963677	0.74016	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367703;ENST00000367701	T;T;T;T;T	0.78481	-1.14;2.41;-1.18;-1.18;2.41	5.9	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	L	0.29908	0.895	0.80722	D	1	D;B	0.63880	0.993;0.178	D;B	0.67548	0.952;0.182	T	0.70389	-0.4885	10	0.15952	T	0.53	.	14.9272	0.70887	0.0:0.9317:0.0:0.0683	.	212;212	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	V	212;212;212;212;120;212	ENSP00000356677:L212V;ENSP00000415293:L212V;ENSP00000409408:L212V;ENSP00000356675:L212V;ENSP00000356674:L212V	ENSP00000356674:L212V	L	+	1	0	ZBTB37	172106620	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	4.465000	0.60141	1.499000	0.48617	0.563000	0.77884	CTT		0.532	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2		NM_032522		13	67	0	0	0	0.00245	0	13	67		
TOR1AIP1	26092	broad.mit.edu	37	1	179851926	179851926	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:179851926G>A	ENST00000606911.2	+	1	480	c.289G>A	c.(289-291)Gag>Aag	p.E97K	TOR1AIP1_ENST00000435319.4_5'UTR|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.E97K|RP11-533E19.7_ENST00000610272.1_lincRNA|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.E97K			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	97					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)	p.E97K(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						TTCTGCGAAAGAGGAAGTGAG	0.597																																						uc001gnq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)|central_nervous_system(1)	2						c.(289-291)GAG>AAG		lamina-associated polypeptide 1B							68.0	78.0	75.0					1																	179851926		2203	4300	6503	SO:0001583	missense	26092					integral to membrane|nuclear inner membrane		g.chr1:179851926G>A		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.289G>A	1.37:g.179851926G>A	ENSP00000476687:p.Glu97Lys					TOR1AIP1_uc001gnp.1_Missense_Mutation_p.E97K	p.E97K	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN			1	507	+			97			Nuclear (Potential).		A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	c.289G>A	CCDS1335.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802713	0.90623	.	.	ENSG00000143337	ENST00000528443;ENST00000325993;ENST00000271583;ENST00000435319	T;T;T	0.34275	1.37;1.42;1.42	5.02	5.02	0.67125	.	0.277746	0.25625	N	0.029399	T	0.37210	0.0995	L	0.32530	0.975	0.34413	D	0.69659	P;D	0.56521	0.877;0.976	B;P	0.49477	0.411;0.612	T	0.53251	-0.8465	10	0.66056	D	0.02	-3.4307	14.2018	0.65710	0.0:0.0:1.0:0.0	.	97;97	Q5JTV8;E9PKD1	TOIP1_HUMAN;.	K	97	ENSP00000435365:E97K;ENSP00000271583:E97K;ENSP00000393292:E97K	ENSP00000271583:E97K	E	+	1	0	TOR1AIP1	178118549	0.998000	0.40836	0.969000	0.41365	0.978000	0.69477	2.727000	0.47311	2.487000	0.83934	0.650000	0.86243	GAG		0.597	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4		NM_015602		32	77	0	0	0	0.003755	0	32	77		
XPR1	9213	broad.mit.edu	37	1	180775197	180775197	+	Splice_Site	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:180775197G>C	ENST00000367590.4	+	5	645		c.e5-1		XPR1_ENST00000367589.3_Splice_Site	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCTTTCTGTAGAATCTGAATT	0.398																																						uc001goi.2		NaN																	1	Unknown(1)		urinary_tract(1)		0						c.e5-1		xenotropic and polytropic retrovirus receptor							34.0	36.0	35.0					1																	180775197		2203	4300	6503	SO:0001630	splice_region_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180775197G>C	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.448-1G>C	1.37:g.180775197G>C						XPR1_uc009wxm.2_Splice_Site_p.N150_splice|XPR1_uc009wxn.2_Splice_Site_p.N150_splice	p.N150_splice	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			5	640	+								O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Splice_Site	SNP	ENST00000367590.4	37	c.448_splice	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106997	0.77096	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5031	0.90889	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	XPR1	179041820	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.282000	0.95840	2.547000	0.85894	0.484000	0.47621	.		0.398	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2		NM_004736	Intron	11	32	0	0	0	0.010729	0	11	32		
XPR1	9213	broad.mit.edu	37	1	180775240	180775240	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:180775240G>C	ENST00000367590.4	+	5	688	c.490G>C	c.(490-492)Gac>Cac	p.D164H	XPR1_ENST00000367589.3_Missense_Mutation_p.D164H	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	164	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.D164H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GAAAAAGCATGACAAGATCCT	0.383																																						uc001goi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(490-492)GAC>CAC		xenotropic and polytropic retrovirus receptor							73.0	74.0	73.0					1																	180775240		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180775240G>C	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.490G>C	1.37:g.180775240G>C	ENSP00000356562:p.Asp164His					XPR1_uc009wxm.2_Missense_Mutation_p.D164H|XPR1_uc009wxn.2_Missense_Mutation_p.D164H	p.D164H	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			5	682	+			164			SPX.|Cytoplasmic (Potential).		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.490G>C	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235027	0.79800	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.59906	0.23	5.42	4.5	0.54988	SPX, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.82820	0.5120	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88077	0.2804	10	0.87932	D	0	-12.7743	13.8971	0.63778	0.0745:0.0:0.9255:0.0	.	164;164	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	H	164	ENSP00000356562:D164H	ENSP00000356561:D164H	D	+	1	0	XPR1	179041863	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.338000	0.96553	1.294000	0.44707	0.484000	0.47621	GAC		0.383	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2		NM_004736		20	65	0	0	0	0.012319	0	20	65		
LAMC2	3918	broad.mit.edu	37	1	183194782	183194782	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:183194782G>A	ENST00000264144.4	+	8	1058	c.993G>A	c.(991-993)ctG>ctA	p.L331L	LAMC2_ENST00000493293.1_Silent_p.L331L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	331	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.L331L(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GCCCCCAGCTGAGTTACTTTG	0.398																																						uc001gqa.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(991-993)CTG>CTA		laminin, gamma 2 isoform a precursor							108.0	119.0	115.0					1																	183194782		2203	4300	6503	SO:0001819	synonymous_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183194782G>A	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.993G>A	1.37:g.183194782G>A						LAMC2_uc001gpz.3_Silent_p.L331L|LAMC2_uc010poa.1_Silent_p.L31L	p.L331L	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			8	1307	+			331			Laminin IV type A.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	c.993G>A	CCDS1352.1																																																																																				0.398	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1		NM_005562		47	153	0	0	0	0.01441	0	47	153		
HMCN1	83872	broad.mit.edu	37	1	185902803	185902803	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:185902803G>C	ENST00000271588.4	+	11	1904	c.1675G>C	c.(1675-1677)Gat>Cat	p.D559H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D559H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	559	Ig-like C2-type 2.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.D559H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAATGACAGAGATGTCAGACT	0.448																																						uc001grq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(22)|skin(1)	23						c.(1675-1677)GAT>CAT		hemicentin 1 precursor							123.0	116.0	118.0					1																	185902803		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185902803G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1675G>C	1.37:g.185902803G>C	ENSP00000271588:p.Asp559His						p.D559H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			11	1904	+			559			Ig-like C2-type 2.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1675G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794223	0.90453	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68479	-0.33;-0.33	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.046152	0.85682	D	0.000000	D	0.83161	0.5194	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81807	-0.0763	10	0.45353	T	0.12	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	559	Q96RW7	HMCN1_HUMAN	H	559	ENSP00000271588:D559H;ENSP00000356462:D559H	ENSP00000271588:D559H	D	+	1	0	HMCN1	184169426	1.000000	0.71417	0.785000	0.31869	0.943000	0.58893	8.999000	0.93557	2.793000	0.96121	0.655000	0.94253	GAT		0.448	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		24	54	0	0	0	0.014323	0	24	54		
TPR	7175	broad.mit.edu	37	1	186324879	186324879	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:186324879G>A	ENST00000367478.4	-	16	2206	c.1910C>T	c.(1909-1911)tCt>tTt	p.S637F	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	637					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.S637F(1)|p.S638F(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGATGCAAGAGAAACATCATC	0.383			T	NTRK1	papillary thyroid																																	uc001grv.2		NaN		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(1909-1911)TCT>TTT		nuclear pore complex-associated protein TPR							117.0	114.0	115.0					1																	186324879		1913	4126	6039	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186324879G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1910C>T	1.37:g.186324879G>A	ENSP00000356448:p.Ser637Phe						p.S637F	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	16	2207	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	637					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.1910C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009002	0.75046	.	.	ENSG00000047410	ENST00000367478	T	0.19250	2.16	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.36386	0.0965	M	0.69823	2.125	0.58432	D	0.999998	D	0.60160	0.987	P	0.53809	0.735	T	0.04400	-1.0954	10	0.34782	T	0.22	.	14.538	0.67973	0.0:0.1456:0.8544:0.0	.	637	P12270	TPR_HUMAN	F	637	ENSP00000356448:S637F	ENSP00000356448:S637F	S	-	2	0	TPR	184591502	1.000000	0.71417	0.998000	0.56505	0.821000	0.46438	5.532000	0.67154	2.601000	0.87937	0.585000	0.79938	TCT		0.383	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2		NM_003292		29	102	0	0	0	0.007291	0	29	102		
RGS2	5997	broad.mit.edu	37	1	192780193	192780193	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:192780193C>G	ENST00000235382.5	+	4	388	c.357C>G	c.(355-357)ttC>ttG	p.F119L		NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	119	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.F119L(1)		large_intestine(3)|lung(1)|urinary_tract(1)	5						GTGAAGACTTCAAAAAAACCA	0.398																																					Pancreas(71;51 2183 4981)	uc001gsl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(355-357)TTC>TTG		regulator of G-protein signaling 2							114.0	121.0	119.0					1																	192780193		2203	4300	6503	SO:0001583	missense	5997				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192780193C>G	L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.357C>G	1.37:g.192780193C>G	ENSP00000235382:p.Phe119Leu						p.F119L	NM_002923	NP_002914	P41220	RGS2_HUMAN			4	390	+			119			RGS.		Q6I9U5	Missense_Mutation	SNP	ENST00000235382.5	37	c.357C>G	CCDS1377.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029982	0.75504	.	.	ENSG00000116741	ENST00000235382	T	0.02552	4.25	5.0	4.09	0.47781	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.06050	0.0157	L	0.39147	1.195	0.58432	D	0.999999	D	0.58268	0.982	P	0.54965	0.765	T	0.29119	-1.0022	10	0.87932	D	0	.	8.637	0.33955	0.0:0.8242:0.0:0.1758	.	119	P41220	RGS2_HUMAN	L	119	ENSP00000235382:F119L	ENSP00000235382:F119L	F	+	3	2	RGS2	191046816	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.354000	0.52254	1.104000	0.41587	-0.253000	0.11424	TTC		0.398	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1		NM_002923		49	117	0	0	0	0.01441	0	49	117		
PPP1R12B	4660	broad.mit.edu	37	1	202411574	202411574	+	Splice_Site	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:202411574G>A	ENST00000608999.1	+	12	1694		c.e12-1		RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000336894.4_Splice_Site	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGCTTCTACAGAGAATCAGCT	0.443																																						uc001gya.1		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(3)	3						c.e12-1		protein phosphatase 1, regulatory (inhibitor)							74.0	76.0	75.0					1																	202411574		2203	4300	6503	SO:0001630	splice_region_variant	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202411574G>A	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1542-1G>A	1.37:g.202411574G>A						PPP1R12B_uc001gxz.1_Splice_Site_p.R514_splice	p.R514_splice	NM_002481	NP_002472	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		12	1686	+								A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Splice_Site	SNP	ENST00000608999.1	37	c.1542_splice	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836093	0.71373	.	.	ENSG00000077157	ENST00000406302;ENST00000336894	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1382	0.89630	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP1R12B	200678197	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.845000	0.75394	2.714000	0.92807	0.563000	0.77884	.		0.443	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3		NM_032105	Intron	13	43	0	0	0	0.013537	0	13	43		
MYOG	4656	broad.mit.edu	37	1	203054957	203054957	+	Missense_Mutation	SNP	C	C	T	rs150337281		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:203054957C>T	ENST00000241651.4	-	1	207	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	45					cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E45K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CCTGGGGCCTCGGGGCTCAGG	0.652																																						uc001gzd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(133-135)GAG>AAG		myogenin			LYS/GLU	0,4404		0,0,2202	40.0	43.0	42.0		133	4.8	1.0	1	dbSNP_134	42	3,8597	3.0+/-9.4	0,3,4297	no	missense	MYOG	NM_002479.4	56	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	benign	45/225	203054957	3,13001	2202	4300	6502	SO:0001583	missense	4656				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr1:203054957C>T	BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"""Basic helix-loop-helix proteins"""	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.133G>A	1.37:g.203054957C>T	ENSP00000241651:p.Glu45Lys						p.E45K	NM_002479	NP_002470	P15173	MYOG_HUMAN			1	421	-			45					Q53XW6	Missense_Mutation	SNP	ENST00000241651.4	37	c.133G>A	CCDS1433.1	.	.	.	.	.	.	.	.	.	.	c	11.32	1.603706	0.28534	0.0	3.49E-4	ENSG00000122180	ENST00000241651	T	0.79554	-1.28	5.68	4.77	0.60923	Myogenic basic muscle-specific protein (2);	0.438432	0.27181	N	0.020545	T	0.76471	0.3992	L	0.60455	1.87	0.45607	D	0.998547	B	0.18863	0.031	B	0.18871	0.023	T	0.71170	-0.4671	10	0.27785	T	0.31	.	13.1568	0.59522	0.0:0.9259:0.0:0.0741	.	45	P15173	MYOG_HUMAN	K	45	ENSP00000241651:E45K	ENSP00000241651:E45K	E	-	1	0	MYOG	201321580	0.982000	0.34865	0.955000	0.39395	0.183000	0.23260	4.195000	0.58400	1.403000	0.46800	0.558000	0.71614	GAG		0.652	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1		NM_002479		27	86	0	0	0	0.004656	0	27	86		
PRELP	5549	broad.mit.edu	37	1	203453266	203453266	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:203453266C>G	ENST00000343110.2	+	2	1081	c.954C>G	c.(952-954)ctC>ctG	p.L318L		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	318					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.L318L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTGTACCTCAACAACAATA	0.562																																						uc001gzs.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|ovary(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(952-954)CTC>CTG		proline arginine-rich end leucine-rich repeat							27.0	30.0	29.0					1																	203453266		2186	4241	6427	SO:0001819	synonymous_variant	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203453266C>G	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.954C>G	1.37:g.203453266C>G						PRELP_uc001gzt.2_Silent_p.L318L	p.L318L	NM_002725	NP_002716	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	1154	+			318			LRR 10.		Q6FG38	Silent	SNP	ENST00000343110.2	37	c.954C>G	CCDS1438.1																																																																																				0.562	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1		NM_002725		13	55	0	0	0	0.003163	0	13	55		
ATP2B4	493	broad.mit.edu	37	1	203667370	203667370	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:203667370C>G	ENST00000357681.5	+	3	1402	c.279C>G	c.(277-279)ttC>ttG	p.F93L	ATP2B4_ENST00000367218.3_Missense_Mutation_p.F93L|ATP2B4_ENST00000391954.2_Missense_Mutation_p.F93L|ATP2B4_ENST00000367219.3_Missense_Mutation_p.F93L|ATP2B4_ENST00000341360.2_Missense_Mutation_p.F93L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	93					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.F93L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAAGACTTTCTTAGAATTAG	0.502																																						uc001gzw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|skin(1)	3						c.(277-279)TTC>TTG		plasma membrane calcium ATPase 4 isoform 4b							115.0	105.0	109.0					1																	203667370		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203667370C>G	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.279C>G	1.37:g.203667370C>G	ENSP00000350310:p.Phe93Leu					ATP2B4_uc001gzv.2_Missense_Mutation_p.F93L|ATP2B4_uc009xaq.2_Missense_Mutation_p.F93L	p.F93L	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1163	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		93			Helical; (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.279C>G	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244381	0.79912	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45	4.95	3.04	0.35103	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.51477	D	0.000099	D	0.92254	0.7543	M	0.67397	2.05	0.80722	D	1	D;P;D	0.64830	0.994;0.805;0.994	D;B;D	0.70016	0.967;0.44;0.967	D	0.91018	0.4855	10	0.38643	T	0.18	-22.6502	11.9925	0.53184	0.0:0.8478:0.0:0.1522	.	93;93;93	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	L	93	ENSP00000350310:F93L;ENSP00000356187:F93L;ENSP00000356188:F93L;ENSP00000375816:F93L;ENSP00000340930:F93L	ENSP00000340930:F93L	F	+	3	2	ATP2B4	201933993	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.711000	0.37930	1.228000	0.43614	0.655000	0.94253	TTC		0.502	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1		NM_001001396		26	83	0	0	0	0.004656	0	26	83		
ATP2B4	493	broad.mit.edu	37	1	203693027	203693027	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:203693027G>C	ENST00000357681.5	+	19	4166	c.3043G>C	c.(3043-3045)Ggg>Cgg	p.G1015R	ATP2B4_ENST00000367218.3_Missense_Mutation_p.G1015R|ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000367219.3_Missense_Mutation_p.G1003R|ATP2B4_ENST00000341360.2_Missense_Mutation_p.G1015R	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1015					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.G1015R(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CGTGGAATTTGGGGGTAAACC	0.542																																						uc001gzw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|skin(1)	3						c.(3043-3045)GGG>CGG		plasma membrane calcium ATPase 4 isoform 4b							141.0	143.0	142.0					1																	203693027		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203693027G>C	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3043G>C	1.37:g.203693027G>C	ENSP00000350310:p.Gly1015Arg					ATP2B4_uc001gzv.2_Missense_Mutation_p.G1015R|ATP2B4_uc009xaq.2_Missense_Mutation_p.G1015R|ATP2B4_uc001gzx.2_Missense_Mutation_p.G46R|ATP2B4_uc009xar.2_Intron	p.G1015R	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		19	3927	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		1015			Helical; (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.3043G>C	CCDS1440.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.811560|4.811560	0.90707|0.90707	.|.	.|.	ENSG00000058668|ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000341360|ENST00000458092	D;D;D;D|.	0.89617|.	-2.54;-2.54;-2.54;-2.54|.	5.19|5.19	5.19|5.19	0.71726|0.71726	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);|.	0.000000|.	0.53938|.	D|.	0.000042|.	D|D	0.90800|0.90800	0.7111|0.7111	H|H	0.98525|0.98525	4.255|4.255	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.992;1.0|.	D|D	0.94441|0.94441	0.7658|0.7658	10|5	0.87932|.	D|.	0|.	-21.8808|-21.8808	18.2983|18.2983	0.90154|0.90154	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1015;1015;1015|.	P23634;P23634-6;B1APW5|.	AT2B4_HUMAN;.;.|.	R|F	1015;1015;1003;1015|1	ENSP00000350310:G1015R;ENSP00000356187:G1015R;ENSP00000356188:G1003R;ENSP00000340930:G1015R|.	ENSP00000340930:G1015R|.	G|L	+|+	1|3	0|2	ATP2B4|ATP2B4	201959650|201959650	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	9.777000|9.777000	0.99008|0.99008	2.426000|2.426000	0.82243|0.82243	0.650000|0.650000	0.86243|0.86243	GGG|TTG		0.542	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1		NM_001001396		24	65	0	0	0	0.004656	0	24	65		
PPP1R15B	84919	broad.mit.edu	37	1	204379015	204379015	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:204379015C>G	ENST00000367188.4	-	1	1904	c.1525G>C	c.(1525-1527)Gat>Cat	p.D509H	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	509					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.D509H(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TTCTCTGAATCAGAAGGCTCT	0.463																																						uc001hav.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(1525-1527)GAT>CAT		protein phosphatase 1, regulatory subunit 15B							58.0	62.0	60.0					1																	204379015		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204379015C>G	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1525G>C	1.37:g.204379015C>G	ENSP00000356156:p.Asp509His						p.D509H	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1930	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		509					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.1525G>C	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857344	0.51376	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.11712	2.75	5.38	4.46	0.54185	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.986296	0.08290	N	0.968624	T	0.27559	0.0677	M	0.70595	2.14	0.09310	N	1	D	0.61080	0.989	P	0.58780	0.845	T	0.12091	-1.0561	10	0.72032	D	0.01	-3.0512	9.0388	0.36305	0.0:0.8404:0.0:0.1596	.	509	Q5SWA1	PR15B_HUMAN	H	509;419	ENSP00000356156:D509H	ENSP00000356156:D509H	D	-	1	0	PPP1R15B	202645638	0.002000	0.14202	0.007000	0.13788	0.828000	0.46876	1.344000	0.33941	2.509000	0.84616	0.655000	0.94253	GAT		0.463	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1		NM_032833		25	77	0	0	0	0.00278	0	25	77		
PPP1R15B	84919	broad.mit.edu	37	1	204379192	204379192	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:204379192C>T	ENST00000367188.4	-	1	1727	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	450					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.E450K(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TCAGCTTCCTCATCCCAATCC	0.458																																						uc001hav.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(1348-1350)GAG>AAG		protein phosphatase 1, regulatory subunit 15B							134.0	134.0	134.0					1																	204379192		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204379192C>T	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1348G>A	1.37:g.204379192C>T	ENSP00000356156:p.Glu450Lys						p.E450K	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1753	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		450					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.1348G>A	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768877	0.90020	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.25749	1.78	4.95	4.95	0.65309	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.473693	0.22613	N	0.057812	T	0.43919	0.1269	M	0.73962	2.25	0.32027	N	0.600045	P	0.45348	0.856	P	0.51055	0.657	T	0.58064	-0.7702	10	0.87932	D	0	-1.9808	16.3288	0.82997	0.0:1.0:0.0:0.0	.	450	Q5SWA1	PR15B_HUMAN	K	450;360	ENSP00000356156:E450K	ENSP00000356156:E450K	E	-	1	0	PPP1R15B	202645815	0.977000	0.34250	0.494000	0.27515	0.997000	0.91878	4.707000	0.61852	2.423000	0.82170	0.655000	0.94253	GAG		0.458	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1		NM_032833		48	218	0	0	0	0.01441	0	48	218		
PPP1R15B	84919	broad.mit.edu	37	1	204379760	204379760	+	Silent	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:204379760C>A	ENST00000367188.4	-	1	1159	c.780G>T	c.(778-780)ctG>ctT	p.L260L	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	260					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.L260L(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GGTCCTCTCTCAGGCAGCTGC	0.542																																						uc001hav.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(778-780)CTG>CTT		protein phosphatase 1, regulatory subunit 15B							85.0	85.0	85.0					1																	204379760		2203	4300	6503	SO:0001819	synonymous_variant	84919				regulation of translation			g.chr1:204379760C>A	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.780G>T	1.37:g.204379760C>A							p.L260L	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1185	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		260					Q53GQ4|Q658M2|Q6P156|Q96SN1	Silent	SNP	ENST00000367188.4	37	c.780G>T	CCDS1445.1																																																																																				0.542	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1		NM_032833		35	138	1	0	6.03168e-27	0.004878	6.28921e-27	35	138		
MIR205HG	642587	broad.mit.edu	37	1	209605571	209605571	+	lincRNA	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:209605571G>C	ENST00000384891.1	+	0	94					NR_029622.1				MIR205 host gene (non-protein coding)																		TGAAGTTCAGGAGGCATGGAG	0.577																																						uc009xcn.2		NaN																	0					0						c.(184-186)AGG>AGC		hypothetical protein LOC642587							88.0	72.0	77.0					1																	209605571		2203	4300	6503			642587							g.chr1:209605571G>C			1q32.2	2014-02-12	2011-11-07		ENSG00000230937	ENSG00000230937		"""Long non-coding RNAs"""	43562	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 510"""						Standard	NM_001104548		Approved	LINC00510	uc009xcn.3		OTTHUMG00000036267		1.37:g.209605571G>C						LOC642587_uc010psk.1_RNA|MIR205_hsa-mir-205|MI0000285_RNA	p.R62S	NM_001104548	NP_001098018				OV - Ovarian serous cystadenocarcinoma(81;0.0422)	4	569	+									Missense_Mutation	SNP	ENST00000384891.1	37	c.186G>C																																																																																					0.577	MIR205HG-202	KNOWN	basic	miRNA	lincRNA					6	32	0	0	0	0.001168	0	6	32		
SERTAD4	56256	broad.mit.edu	37	1	210411352	210411352	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:210411352C>T	ENST00000367012.3	+	2	277	c.47C>T	c.(46-48)tCg>tTg	p.S16L	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	16						nucleus (GO:0005634)		p.S16L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CCCATTGTCTCGGAAGGAGCT	0.488																																						uc001hhy.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(1)|pancreas(1)	2						c.(46-48)TCG>TTG		SERTA domain containing 4							91.0	94.0	93.0					1																	210411352		2203	4300	6503	SO:0001583	missense	56256						protein binding	g.chr1:210411352C>T	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.47C>T	1.37:g.210411352C>T	ENSP00000355979:p.Ser16Leu					SERTAD4_uc009xcw.2_Missense_Mutation_p.S16L	p.S16L	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	2	226	+			16					B2RD32	Missense_Mutation	SNP	ENST00000367012.3	37	c.47C>T	CCDS1494.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072075	0.76415	.	.	ENSG00000082497	ENST00000367012	.	.	.	5.37	5.37	0.77165	.	0.220713	0.31347	N	0.007806	T	0.46502	0.1396	N	0.24115	0.695	0.37014	D	0.895854	B	0.27971	0.196	B	0.21917	0.037	T	0.54275	-0.8318	9	0.72032	D	0.01	-1.6987	17.8999	0.88900	0.0:1.0:0.0:0.0	.	16	Q9NUC0	SRTD4_HUMAN	L	16	.	ENSP00000355979:S16L	S	+	2	0	SERTAD4	208477975	1.000000	0.71417	0.988000	0.46212	0.931000	0.56810	5.284000	0.65627	2.512000	0.84698	0.655000	0.94253	TCG		0.488	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1		NM_019605		33	124	0	0	0	0.005524	0	33	124		
FLVCR1	28982	broad.mit.edu	37	1	213032118	213032118	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:213032118C>A	ENST00000366971.4	+	1	522	c.324C>A	c.(322-324)ttC>ttA	p.F108L	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	108					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)	p.F108L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CGCGGCGCTTCGTGGTGCTCC	0.657																																					Esophageal Squamous(199;2235 2952 19233 26256)	uc001hjt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(322-324)TTC>TTA		feline leukemia virus subgroup C cellular							41.0	34.0	36.0					1																	213032118		2203	4300	6503	SO:0001583	missense	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213032118C>A	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.324C>A	1.37:g.213032118C>A	ENSP00000355938:p.Phe108Leu					LQK1_uc001hjr.3_5'Flank|LQK1_uc001hjs.3_5'Flank	p.F108L	NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	1	522	+			108			Helical; (Potential).		Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	c.324C>A	CCDS1510.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578052	0.65878	.	.	ENSG00000162769	ENST00000366971	T	0.57595	0.39	5.65	-2.07	0.07276	Major facilitator superfamily domain, general substrate transporter (1);	0.043289	0.85682	D	0.000000	T	0.40372	0.1114	L	0.38531	1.155	0.42671	D	0.993519	B	0.29646	0.253	B	0.32289	0.143	T	0.19063	-1.0317	10	0.72032	D	0.01	-14.035	12.1398	0.53993	0.0:0.6761:0.0998:0.2241	.	108	Q9Y5Y0	FLVC1_HUMAN	L	108	ENSP00000355938:F108L	ENSP00000355938:F108L	F	+	3	2	FLVCR1	211098741	0.000000	0.05858	0.840000	0.33206	0.975000	0.68041	-1.181000	0.03085	-0.679000	0.05217	-0.345000	0.07892	TTC		0.657	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2		NM_014053		14	27	1	0	2.31682e-05	0.003163	2.34717e-05	14	27		
KCNK2	3776	broad.mit.edu	37	1	215256745	215256745	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:215256745C>G	ENST00000444842.2	+	1	167	c.17C>G	c.(16-18)tCg>tGg	p.S6W	KCNK2_ENST00000391894.2_Intron|KCNK2_ENST00000391895.2_Intron	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	6					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.S6W(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CCCAGCGCCTCGCGGGAGAGA	0.547																																						uc001hkq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(16-18)TCG>TGG		potassium channel, subfamily K, member 2 isoform	Dofetilide(DB00204)						67.0	76.0	73.0					1																	215256745		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215256745C>G	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.17C>G	1.37:g.215256745C>G	ENSP00000394033:p.Ser6Trp					KCNK2_uc001hko.2_Intron|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_Intron|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Intron	p.S6W	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	1	186	+			6			Cytoplasmic (Potential).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.17C>G	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113103	0.37339	.	.	ENSG00000082482	ENST00000444842	T	0.22743	1.94	4.27	1.18	0.20946	.	0.933707	0.08889	N	0.878957	T	0.28034	0.0691	N	0.22421	0.69	0.36932	D	0.891933	D	0.59767	0.986	P	0.59221	0.854	T	0.25328	-1.0135	10	0.66056	D	0.02	.	11.786	0.52043	0.0:0.4634:0.5366:0.0	.	6	O95069	KCNK2_HUMAN	W	6	ENSP00000394033:S6W	ENSP00000394033:S6W	S	+	2	0	KCNK2	213323368	0.083000	0.21467	0.998000	0.56505	0.998000	0.95712	0.229000	0.17833	0.061000	0.16311	0.655000	0.94253	TCG		0.547	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2		NM_014217		25	90	0	0	0	0.00632	0	25	90		
EPRS	2058	broad.mit.edu	37	1	220213549	220213549	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:220213549C>G	ENST00000366923.3	-	2	378	c.109G>C	c.(109-111)Gag>Cag	p.E37Q		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	37					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.E37Q(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	AGAATATTCTCTTTCCCTTCT	0.318																																						uc001hly.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(109-111)GAG>CAG		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						94.0	103.0	100.0					1																	220213549		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220213549C>G	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.109G>C	1.37:g.220213549C>G	ENSP00000355890:p.Glu37Gln					EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.E37Q|EPRS_uc009xdt.1_5'UTR	p.E37Q	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	2	379	-			37					A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.109G>C	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750375	0.49257	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.07021	3.23	4.8	4.8	0.61643	.	0.149062	0.64402	D	0.000012	T	0.11196	0.0273	L	0.47016	1.485	0.48341	D	0.999638	B;B	0.20780	0.048;0.014	B;B	0.20577	0.03;0.014	T	0.07214	-1.0784	10	0.44086	T	0.13	-31.3193	18.2319	0.89937	0.0:1.0:0.0:0.0	.	37;37	Q3KQZ8;P07814	.;SYEP_HUMAN	Q	37	ENSP00000355890:E37Q	ENSP00000355890:E37Q	E	-	1	0	EPRS	218280172	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	5.251000	0.65438	2.387000	0.81309	0.455000	0.32223	GAG		0.318	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2		NM_004446		20	130	0	0	0	0.00333	0	20	130		
HLX	3142	broad.mit.edu	37	1	221053221	221053221	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:221053221C>T	ENST00000366903.6	+	1	1523	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	HLA-AS1_ENST00000552026.1_RNA|HLX_ENST00000549319.1_5'Flank	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	8					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P8S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CGGGCTGGCTCCCTTCTACGC	0.731																																						uc001hmv.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(22-24)CCC>TCC		H2.0-like homeobox							6.0	8.0	7.0					1																	221053221		2162	4243	6405	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221053221C>T	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.22C>T	1.37:g.221053221C>T	ENSP00000355870:p.Pro8Ser						p.P8S	NM_021958	NP_068777	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	1	479	+			8					B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.22C>T	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146567	0.77888	.	.	ENSG00000136630	ENST00000366903	T	0.30714	1.52	4.59	3.64	0.41730	.	0.000000	0.56097	D	0.000023	T	0.33265	0.0857	L	0.34521	1.04	0.80722	D	1	D	0.55605	0.972	P	0.50659	0.647	T	0.18777	-1.0326	10	0.87932	D	0	-20.6092	13.8087	0.63250	0.1547:0.8453:0.0:0.0	.	8	Q14774	HLX_HUMAN	S	8	ENSP00000355870:P8S	ENSP00000355870:P8S	P	+	1	0	HLX	219119844	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.119000	0.64679	1.233000	0.43693	0.555000	0.69702	CCC		0.731	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3		NM_021958		5	9	0	0	0	0.000602	0	5	9		
SDE2	163859	broad.mit.edu	37	1	226180638	226180638	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:226180638G>A	ENST00000272091.7	-	3	322	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	102								p.R90W(1)|p.R102W(1)									CTGAGATCCCGACAAGCTTCT	0.423																																						uc001hpu.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(1)	1						c.(304-306)CGG>TGG		hypothetical protein LOC163859							95.0	85.0	88.0					1																	226180638		1870	4116	5986	SO:0001583	missense	163859							g.chr1:226180638G>A	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.304C>T	1.37:g.226180638G>A	ENSP00000272091:p.Arg102Trp					C1orf55_uc001hpv.2_Missense_Mutation_p.R102W	p.R102W	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN			3	357	-	Breast(184;0.197)		102					A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.304C>T	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663964	0.88251	.	.	ENSG00000143751	ENST00000272091;ENST00000366818	D	0.94330	-3.4	5.86	5.86	0.93980	.	0.109437	0.64402	D	0.000006	D	0.97548	0.9197	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98154	1.0443	10	0.87932	D	0	-9.2659	15.8047	0.78483	0.0:0.0:0.8634:0.1366	.	90;102	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	W	102;90	ENSP00000272091:R102W	ENSP00000272091:R102W	R	-	1	2	C1orf55	224247261	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.597000	0.46214	2.788000	0.95919	0.650000	0.86243	CGG		0.423	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1		NM_152608		31	68	0	0	0	0.005524	0	31	68		
CDC42BPA	8476	broad.mit.edu	37	1	227261667	227261667	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:227261667G>C	ENST00000366769.3	-	19	3924	c.2633C>G	c.(2632-2634)gCt>gGt	p.A878G	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.A878G|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.A878G|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.A878G|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.A878G|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.A878G|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.A797G	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.A878G(2)|p.A797G(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTCCAGTCTAGCTGACATATC	0.368																																						uc001hqr.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(2632-2634)GCT>GGT		CDC42-binding protein kinase alpha isoform B							142.0	140.0	141.0					1																	227261667		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227261667G>C	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2633C>G	1.37:g.227261667G>C	ENSP00000355731:p.Ala878Gly					CDC42BPA_uc001hqq.2_Missense_Mutation_p.A142G|CDC42BPA_uc001hqs.2_Missense_Mutation_p.A797G|CDC42BPA_uc009xes.2_Missense_Mutation_p.A878G|CDC42BPA_uc010pvs.1_Missense_Mutation_p.A878G|CDC42BPA_uc001hqp.2_Missense_Mutation_p.A34G|CDC42BPA_uc001hqu.1_Missense_Mutation_p.A34G	p.A878G	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			19	3576	-		all_cancers(173;0.156)|Prostate(94;0.0792)	878						Missense_Mutation	SNP	ENST00000366769.3	37	c.2633C>G	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.780866|4.780866	0.90195|0.90195	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000441725	T;T;T;T;T;T;T|T;T;T	0.44482|0.58797	0.92;0.92;0.92;0.92;0.92;0.92;0.92|1.03;1.03;0.31	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69824|0.69824	0.3154|0.3154	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D;B;D;B;B;D|.	0.76494|.	0.999;0.992;0.211;0.998;0.09;0.166;0.998|.	D;P;B;D;B;B;D|.	0.87578|.	0.997;0.893;0.117;0.998;0.099;0.169;0.995|.	T|T	0.63310|0.63310	-0.6666|-0.6666	10|7	0.33940|0.26408	T|T	0.23|0.33	.|.	19.8411|19.8411	0.96685|0.96685	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	878;878;142;797;878;878;80|.	F5H5N0;Q5VT25-4;E9PEF7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.;.|.	G|R	878;797;878;878;878;142;878;878|80;171;51	ENSP00000355731:A878G;ENSP00000355729:A797G;ENSP00000335341:A878G;ENSP00000355728:A878G;ENSP00000355726:A878G;ENSP00000443275:A878G;ENSP00000355727:A878G|ENSP00000415388:S80R;ENSP00000401051:S171R;ENSP00000408165:S51R	ENSP00000335341:A878G|ENSP00000408165:S51R	A|S	-|-	2|3	0|2	CDC42BPA|CDC42BPA	225328290|225328290	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.998000|0.998000	0.95712|0.95712	9.334000|9.334000	0.96470|0.96470	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.368	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1		NM_014826		52	154	0	0	0	0.01441	0	52	154		
ARID4B	51742	broad.mit.edu	37	1	235357527	235357527	+	Splice_Site	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:235357527C>G	ENST00000264183.3	-	19	2424		c.e19-1		ARID4B_ENST00000366603.2_Splice_Site|ARID4B_ENST00000349213.3_Splice_Site	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)						histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTAATTTATTCTAGGTTAAGA	0.303																																						uc001hwq.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(2)|lung(1)	3						c.e19-1		AT rich interactive domain 4B isoform 1							44.0	43.0	43.0					1																	235357527		2202	4300	6502	SO:0001630	splice_region_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235357527C>G	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1927-1G>C	1.37:g.235357527C>G						ARID4B_uc001hwr.2_Splice_Site_p.N557_splice|ARID4B_uc001hws.3_Splice_Site_p.N557_splice|ARID4B_uc001hwp.2_Splice_Site|ARID4B_uc001hwt.3_Splice_Site_p.N324_splice	p.N643_splice	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		19	2425	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)						A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Splice_Site	SNP	ENST00000264183.3	37	c.1927_splice	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488580	0.64074	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000444620	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5272	0.90976	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARID4B	233424150	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.730000	0.68546	2.447000	0.82792	0.555000	0.69702	.		0.303	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3		NM_016374	Intron	10	42	0	0	0	0.006214	0	10	42		
RYR2	6262	broad.mit.edu	37	1	237774219	237774219	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:237774219G>A	ENST00000366574.2	+	36	5158	c.4841G>A	c.(4840-4842)cGc>cAc	p.R1614H	RYR2_ENST00000360064.6_Missense_Mutation_p.R1612H|RYR2_ENST00000542537.1_Missense_Mutation_p.R1598H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1614	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R1612H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATAAGTGAACGCCAAGGCTGG	0.527																																						uc001hyl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4840-4842)CGC>CAC		cardiac muscle ryanodine receptor							72.0	72.0	72.0					1																	237774219		1995	4168	6163	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237774219G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4841G>A	1.37:g.237774219G>A	ENSP00000355533:p.Arg1614His						p.R1614H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	4961	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1614			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4841G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001458	0.93227	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96940	-4.18;-4.15;-4.17	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000015	D	0.97346	0.9132	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	P	0.59221	0.854	D	0.96070	0.9045	10	0.15952	T	0.53	.	18.7848	0.91949	0.0:0.0:1.0:0.0	.	1614	Q92736	RYR2_HUMAN	H	1614;1612;1598	ENSP00000355533:R1614H;ENSP00000353174:R1612H;ENSP00000443798:R1598H	ENSP00000353174:R1612H	R	+	2	0	RYR2	235840842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.595000	0.98260	2.658000	0.90341	0.655000	0.94253	CGC		0.527	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		8	25	0	0	0	0.00308	0	8	25		
WDR64	128025	broad.mit.edu	37	1	241964444	241964444	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:241964444G>C	ENST00000366552.2	+	27	3380	c.3173G>C	c.(3172-3174)aGa>aCa	p.R1058T	WDR64_ENST00000437684.2_Missense_Mutation_p.R891T	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1058								p.R1058T(1)|p.R611T(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GCACCACGAAGAAGAAGTTTG	0.378																																						uc001hzf.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(1831-1833)AGA>ACA		WD repeat domain 64							76.0	81.0	79.0					1																	241964444		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241964444G>C	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3173G>C	1.37:g.241964444G>C	ENSP00000355510:p.Arg1058Thr					WDR64_uc001hzg.1_Missense_Mutation_p.R524T	p.R611T	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		17	1985	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	1058					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1832G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.04|10.04	1.242207|1.242207	0.22796|0.22796	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000425826|ENST00000366552;ENST00000437684;ENST00000414635	.|T;T;T	.|0.57436	.|0.71;0.4;0.43	5.22|5.22	-2.76|-2.76	0.05896|0.05896	.|.	.|0.465425	.|0.19172	.|N	.|0.120910	T|T	0.45538|0.45538	0.1347|0.1347	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|B;B	.|0.31383	.|0.321;0.319	.|B;B	.|0.34346	.|0.136;0.18	T|T	0.44682|0.44682	-0.9312|-0.9312	5|10	.|0.72032	.|D	.|0.01	-2.0593|-2.0593	10.2763|10.2763	0.43512|0.43512	0.585:0.0:0.415:0.0|0.585:0.0:0.415:0.0	.|.	.|1058;611	.|B1ANS9;D1MPS4	.|WDR64_HUMAN;.	Q|T	537|1058;891;662	.|ENSP00000355510:R1058T;ENSP00000402446:R891T;ENSP00000406656:R662T	.|ENSP00000355510:R1058T	E|R	+|+	1|2	0|0	WDR64|WDR64	240031067|240031067	0.876000|0.876000	0.30132|0.30132	0.025000|0.025000	0.17156|0.17156	0.001000|0.001000	0.01503|0.01503	-0.180000|-0.180000	0.09754|0.09754	-0.806000|-0.806000	0.04398|0.04398	-0.745000|-0.745000	0.03516|0.03516	GAA|AGA		0.378	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_144625		22	70	0	0	0	0.012319	0	22	70		
CEP170	9859	broad.mit.edu	37	1	243328908	243328908	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:243328908G>C	ENST00000366542.1	-	13	2405	c.2354C>G	c.(2353-2355)tCa>tGa	p.S785*	CEP170_ENST00000366544.1_Nonsense_Mutation_p.S687*|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366543.1_Nonsense_Mutation_p.S687*	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	785						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.S785*(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGGAGGTTGTGATTCTTGTTT	0.398																																						uc001hzs.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(2353-2355)TCA>TGA		centrosomal protein 170kDa isoform alpha							86.0	82.0	83.0					1																	243328908		1836	4099	5935	SO:0001587	stop_gained	9859					centriole|microtubule|spindle		g.chr1:243328908G>C	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2354C>G	1.37:g.243328908G>C	ENSP00000355500:p.Ser785*					CEP170_uc001hzt.2_Nonsense_Mutation_p.S687*|CEP170_uc001hzu.2_Nonsense_Mutation_p.S687*|CEP170_uc001hzv.1_Nonsense_Mutation_p.S163*	p.S785*	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	2762	-	all_neural(11;0.101)	all_cancers(173;0.003)	785					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Nonsense_Mutation	SNP	ENST00000366542.1	37	c.2354C>G	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.197388|5.197388	0.94960|0.94960	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543	.|.	.|.	.|.	5.25|5.25	4.33|4.33	0.51752|0.51752	.|.	.|0.556823	.|0.17247	.|N	.|0.181336	T|.	0.54695|.	0.1874|.	.|.	.|.	.|.	0.43421|0.43421	D|D	0.995576|0.995576	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42582|.	-0.9443|.	4|.	.|0.17832	.|T	.|0.49	-2.4603|-2.4603	12.66|12.66	0.56809|0.56809	0.0796:0.0:0.9204:0.0|0.0796:0.0:0.9204:0.0	.|.	.|.	.|.	.|.	D|X	749|785;687;687	.|.	.|ENSP00000355500:S785X	H|S	-|-	1|2	0|0	CEP170|CEP170	241395531|241395531	0.028000|0.028000	0.19301|0.19301	0.961000|0.961000	0.40146|0.40146	0.775000|0.775000	0.43874|0.43874	1.595000|1.595000	0.36708|0.36708	1.209000|1.209000	0.43321|0.43321	0.484000|0.484000	0.47621|0.47621	CAC|TCA		0.398	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2		NM_014812		17	133	0	0	0	0.007413	0	17	133		
DIP2C	22982	broad.mit.edu	37	10	395346	395346	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:395346C>G	ENST00000280886.6	-	25	3121	c.3034G>C	c.(3034-3036)Gag>Cag	p.E1012Q		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1012						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.E1012Q(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCGATCTTCTCAGCTCTCTTG	0.622																																						uc001ifp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(4)|ovary(2)|large_intestine(1)	7						c.(3034-3036)GAG>CAG		DIP2 disco-interacting protein 2 homolog C							117.0	88.0	98.0					10																	395346		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:395346C>G	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3034G>C	10.37:g.395346C>G	ENSP00000280886:p.Glu1012Gln					DIP2C_uc009xhi.1_Missense_Mutation_p.E398Q	p.E1012Q	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	25	3124	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1012					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.3034G>C	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104062	0.76983	.	.	ENSG00000151240	ENST00000280886	T	0.42513	0.97	5.18	5.18	0.71444	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.59662	0.2210	L	0.55213	1.73	0.80722	D	1	D	0.63880	0.993	D	0.68621	0.959	T	0.54450	-0.8292	10	0.30854	T	0.27	-32.3573	18.7109	0.91656	0.0:1.0:0.0:0.0	.	1012	Q9Y2E4	DIP2C_HUMAN	Q	1012	ENSP00000280886:E1012Q	ENSP00000280886:E1012Q	E	-	1	0	DIP2C	385346	1.000000	0.71417	0.895000	0.35142	0.264000	0.26372	7.811000	0.86092	2.409000	0.81822	0.563000	0.77884	GAG		0.622	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1		NM_014974		22	83	0	0	0	0.012319	0	22	83		
RBM17	84991	broad.mit.edu	37	10	6143281	6143281	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:6143281G>A	ENST00000446108.1	+	3	815	c.171G>A	c.(169-171)ctG>ctA	p.L57L	RBM17_ENST00000379888.4_Silent_p.L57L	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	57					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L57L(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TCATTGACCTGAAGCGAGGTG	0.483																																						uc001ijb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(169-171)CTG>CTA		RNA binding motif protein 17							67.0	57.0	60.0					10																	6143281		2203	4300	6503	SO:0001819	synonymous_variant	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6143281G>A	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.171G>A	10.37:g.6143281G>A						RBM17_uc010qav.1_Silent_p.L57L	p.L57L	NM_032905	NP_116294	Q96I25	SPF45_HUMAN			3	397	+			57					Q96GY6	Silent	SNP	ENST00000446108.1	37	c.171G>A	CCDS7077.1																																																																																				0.483	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1		NM_032905		9	49	0	0	0	0.004482	0	9	49		
UPF2	26019	broad.mit.edu	37	10	11994206	11994206	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:11994206C>G	ENST00000356352.2	-	14	3366	c.2893G>C	c.(2893-2895)Gac>Cac	p.D965H	UPF2_ENST00000397053.2_Missense_Mutation_p.D965H|UPF2_ENST00000357604.5_Missense_Mutation_p.D965H			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	965	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.D965H(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AATGGATGGTCTTTTGTCCAA	0.308																																						uc001ila.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)	3						c.(2893-2895)GAC>CAC		UPF2 regulator of nonsense transcripts homolog							117.0	115.0	116.0					10																	11994206		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11994206C>G	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2893G>C	10.37:g.11994206C>G	ENSP00000348708:p.Asp965His					UPF2_uc001ilb.2_Missense_Mutation_p.D965H|UPF2_uc001ilc.2_Missense_Mutation_p.D965H|UPF2_uc009xiz.1_Missense_Mutation_p.D965H	p.D965H	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			14	3367	-		Renal(717;0.228)	965			MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.2893G>C	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912147	0.72983	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.23147	1.92;1.92;1.92	5.47	5.47	0.80525	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.051871	0.85682	D	0.000000	T	0.41328	0.1154	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	P	0.61201	0.885	T	0.16958	-1.0385	10	0.66056	D	0.02	.	19.6822	0.95969	0.0:1.0:0.0:0.0	.	965	Q9HAU5	RENT2_HUMAN	H	965	ENSP00000348708:D965H;ENSP00000350221:D965H;ENSP00000380244:D965H	ENSP00000348708:D965H	D	-	1	0	UPF2	12034212	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.445000	0.80570	2.728000	0.93425	0.585000	0.79938	GAC		0.308	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1				23	80	0	0	0	0.012319	0	23	80		
MSRB2	22921	broad.mit.edu	37	10	23408326	23408326	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:23408326G>A	ENST00000376510.3	+	4	493	c.390G>A	c.(388-390)ctG>ctA	p.L130L	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	130					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L130L(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	CAGGGATCCTGAGACGTCTGG	0.512																																					Esophageal Squamous(89;1240 1363 4973 30188 42299)	uc001iro.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(388-390)CTG>CTA		methionine sulfoxide reductase B2 precursor	L-Methionine(DB00134)						105.0	105.0	105.0					10																	23408326		1975	4162	6137	SO:0001819	synonymous_variant	22921				protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:23408326G>A	AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"""methionine sulfoxide reductase B"""	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.390G>A	10.37:g.23408326G>A							p.L130L	NM_012228	NP_036360	Q9Y3D2	MSRB2_HUMAN			4	501	+			130					Q17R44|Q4G1C7|Q9Y5W6	Silent	SNP	ENST00000376510.3	37	c.390G>A	CCDS41495.1																																																																																				0.512	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1		NM_012228		25	94	0	0	0	0.00278	0	25	94		
ANKRD26	22852	broad.mit.edu	37	10	27323766	27323766	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:27323766C>G	ENST00000376087.4	-	24	3778	c.3613G>C	c.(3613-3615)Gaa>Caa	p.E1205Q	ANKRD26_ENST00000376070.3_Missense_Mutation_p.E762Q|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1221Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1204					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.E1205Q(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TACTGTCTTTCTTTTAAGTGA	0.289																																						uc001ith.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(3610-3612)GAA>CAA		ankyrin repeat domain 26							83.0	76.0	78.0					10																	27323766		1818	4081	5899	SO:0001583	missense	22852					centrosome		g.chr10:27323766C>G	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3613G>C	10.37:g.27323766C>G	ENSP00000365255:p.Glu1205Gln					ANKRD26_uc001itg.2_Missense_Mutation_p.E891Q|ANKRD26_uc009xku.1_Missense_Mutation_p.E1205Q	p.E1204Q	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			24	3782	-			1204			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.3610G>C	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507026	0.64410	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.26810	1.71;1.71;1.71	5.66	3.77	0.43336	.	0.000000	0.53938	D	0.000049	T	0.51534	0.1680	M	0.84683	2.71	0.43598	D	0.99595	D;D;D	0.76494	0.999;0.999;0.959	D;D;P	0.80764	0.994;0.986;0.556	T	0.54309	-0.8313	10	0.87932	D	0	.	9.6348	0.39800	0.0:0.7796:0.142:0.0784	.	1205;1204;1221	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	Q	762;1205;1221	ENSP00000365238:E762Q;ENSP00000365255:E1205Q;ENSP00000405112:E1221Q	ENSP00000365238:E762Q	E	-	1	0	ANKRD26	27363772	1.000000	0.71417	0.136000	0.22124	0.990000	0.78478	6.633000	0.74286	0.724000	0.32296	0.586000	0.80456	GAA		0.289	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1				27	67	0	0	0	0.003954	0	27	67		
ANKRD26	22852	broad.mit.edu	37	10	27323874	27323874	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:27323874C>T	ENST00000376087.4	-	24	3670	c.3505G>A	c.(3505-3507)Gac>Aac	p.D1169N	ANKRD26_ENST00000376070.3_Missense_Mutation_p.D726N|ANKRD26_ENST00000436985.2_Missense_Mutation_p.D1185N	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1168					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.D1169N(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGAAACTGGTCTTGGATATTA	0.368																																						uc001ith.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(3502-3504)GAC>AAC		ankyrin repeat domain 26							209.0	197.0	201.0					10																	27323874		1889	4117	6006	SO:0001583	missense	22852					centrosome		g.chr10:27323874C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3505G>A	10.37:g.27323874C>T	ENSP00000365255:p.Asp1169Asn					ANKRD26_uc001itg.2_Missense_Mutation_p.D855N|ANKRD26_uc009xku.1_Missense_Mutation_p.D1169N	p.D1168N	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			24	3674	-			1168			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.3502G>A	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432747	0.25813	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.15487	2.42;2.42;2.42	5.64	3.79	0.43588	.	0.452045	0.17656	N	0.166485	T	0.23210	0.0561	M	0.75615	2.305	0.36471	D	0.867267	B;B;B	0.26258	0.145;0.09;0.02	B;B;B	0.29942	0.109;0.051;0.027	T	0.09185	-1.0686	10	0.56958	D	0.05	.	10.2176	0.43177	0.0:0.8391:0.0:0.1609	.	1169;1168;1185	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	N	726;1169;1185	ENSP00000365238:D726N;ENSP00000365255:D1169N;ENSP00000405112:D1185N	ENSP00000365238:D726N	D	-	1	0	ANKRD26	27363880	1.000000	0.71417	0.005000	0.12908	0.168000	0.22595	4.977000	0.63792	0.744000	0.32741	0.591000	0.81541	GAC		0.368	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1				59	203	0	0	0	0.01441	0	59	203		
ARMC4	55130	broad.mit.edu	37	10	28151455	28151455	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:28151455C>T	ENST00000305242.5	-	18	2799	c.2707G>A	c.(2707-2709)Gct>Act	p.A903T	ARMC4_ENST00000545014.1_Missense_Mutation_p.A428T|ARMC4_ENST00000537576.1_Missense_Mutation_p.A595T	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	903					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.A903T(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTAATGGCAGCACATACACTT	0.373																																						uc009xky.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(2)	6						c.(2707-2709)GCT>ACT		armadillo repeat containing 4							153.0	136.0	141.0					10																	28151455		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28151455C>T	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2707G>A	10.37:g.28151455C>T	ENSP00000306410:p.Ala903Thr					ARMC4_uc010qds.1_Missense_Mutation_p.A428T|ARMC4_uc010qdt.1_Missense_Mutation_p.A595T|ARMC4_uc001itz.2_Missense_Mutation_p.A903T	p.A903T	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			18	2805	-			903			ARM 7.		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.2707G>A	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	34	5.340779	0.95783	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;D	0.94537	-3.45;-3.45;-3.45	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.047070	0.85682	D	0.000000	D	0.97151	0.9069	M	0.79475	2.455	0.80722	D	1	D;P	0.76494	0.999;0.824	D;P	0.68765	0.96;0.469	D	0.96520	0.9385	10	0.46703	T	0.11	-23.1974	19.9944	0.97379	0.0:1.0:0.0:0.0	.	428;903	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	T	595;903;428	ENSP00000443208:A595T;ENSP00000306410:A903T;ENSP00000441076:A428T	ENSP00000306410:A903T	A	-	1	0	ARMC4	28191461	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.012000	0.70767	2.720000	0.93068	0.557000	0.71058	GCT		0.373	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1		NM_018076		29	96	0	0	0	0.005443	0	29	96		
ITGB1	3688	broad.mit.edu	37	10	33200926	33200926	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:33200926G>A	ENST00000396033.2	-	12	1731	c.1596C>T	c.(1594-1596)gtC>gtT	p.V532V	ITGB1_ENST00000374956.4_Silent_p.V532V|ITGB1_ENST00000423113.1_Silent_p.V532V|ITGB1_ENST00000302278.3_Silent_p.V532V	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	532	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.V532V(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	ACTGTCCGCAGACGCACTCTC	0.398																																						uc001iws.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1594-1596)GTC>GTT		integrin beta 1 isoform 1A precursor							186.0	159.0	168.0					10																	33200926		2203	4300	6503	SO:0001819	synonymous_variant	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33200926G>A	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1596C>T	10.37:g.33200926G>A						ITGB1_uc001iwp.3_Silent_p.V532V|ITGB1_uc001iwq.3_Silent_p.V532V|ITGB1_uc001iwr.3_Silent_p.V532V|ITGB1_uc001iwt.3_Silent_p.V532V|ITGB1_uc001iwu.1_Silent_p.V532V	p.V532V	NM_133376	NP_596867	P05556	ITB1_HUMAN			12	1732	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	532			Extracellular (Potential).|Cysteine-rich tandem repeats.|II.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Silent	SNP	ENST00000396033.2	37	c.1596C>T	CCDS7174.1																																																																																				0.398	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1		NM_002211		48	129	0	0	0	0.01441	0	48	129		
ITGB1	3688	broad.mit.edu	37	10	33224454	33224454	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:33224454C>T	ENST00000396033.2	-	2	168	c.33G>A	c.(31-33)ctG>ctA	p.L11L	ITGB1_ENST00000484088.1_5'UTR|ITGB1_ENST00000374956.4_Silent_p.L11L|ITGB1_ENST00000423113.1_Silent_p.L11L|ITGB1_ENST00000302278.3_Silent_p.L11L	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	11					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.L11L(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CTGAACTGATCAGTCCAATCC	0.294																																						uc001iws.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(31-33)CTG>CTA		integrin beta 1 isoform 1A precursor							75.0	76.0	75.0					10																	33224454		2203	4300	6503	SO:0001819	synonymous_variant	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33224454C>T	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.33G>A	10.37:g.33224454C>T						ITGB1_uc001iwp.3_Silent_p.L11L|ITGB1_uc001iwq.3_Silent_p.L11L|ITGB1_uc001iwr.3_Silent_p.L11L|ITGB1_uc001iwt.3_Silent_p.L11L|ITGB1_uc001iwu.1_Silent_p.L11L	p.L11L	NM_133376	NP_596867	P05556	ITB1_HUMAN			2	169	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	11					A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Silent	SNP	ENST00000396033.2	37	c.33G>A	CCDS7174.1																																																																																				0.294	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1		NM_002211		10	60	0	0	0	0.013537	0	10	60		
PHYHIPL	84457	broad.mit.edu	37	10	61005268	61005268	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:61005268G>A	ENST00000373880.4	+	5	1312	c.1048G>A	c.(1048-1050)Ggt>Agt	p.G350S	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.G324S	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	350						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)		p.G350S(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						AGAAATCACTGGTCATCAGCT	0.448																																						uc001jkk.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1048-1050)GGT>AGT		phytanoyl-CoA 2-hydroxylase interacting							82.0	77.0	79.0					10																	61005268		2203	4300	6503	SO:0001583	missense	84457							g.chr10:61005268G>A	AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"""Fibronectin type III domain containing"""	29378	protein-coding gene	gene with protein product			"""phytanoyl-CoA hydroxylase interacting protein-like"""			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.1048G>A	10.37:g.61005268G>A	ENSP00000362987:p.Gly350Ser					PHYHIPL_uc001jkl.3_Missense_Mutation_p.G304S|PHYHIPL_uc001jkm.3_Missense_Mutation_p.G324S	p.G350S	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN			5	1314	+			350					B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Missense_Mutation	SNP	ENST00000373880.4	37	c.1048G>A	CCDS7254.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446111	0.84101	.	.	ENSG00000165443	ENST00000373880;ENST00000373878	T;T	0.37752	1.18;1.18	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000001	T	0.64271	0.2583	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66803	-0.5831	10	0.66056	D	0.02	-6.2765	19.5263	0.95208	0.0:0.0:1.0:0.0	.	324;350	Q96FC7-2;Q96FC7	.;PHIPL_HUMAN	S	350;324	ENSP00000362987:G350S;ENSP00000362985:G324S	ENSP00000362985:G324S	G	+	1	0	PHYHIPL	60675274	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.608000	0.88229	0.655000	0.94253	GGT		0.448	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1		NM_032439		41	96	0	0	0	0.007835	0	41	96		
RTKN2	219790	broad.mit.edu	37	10	63977986	63977986	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:63977986C>T	ENST00000373789.3	-	8	952	c.856G>A	c.(856-858)Gag>Aag	p.E286K	RTKN2_ENST00000315289.2_Missense_Mutation_p.E67K|RTKN2_ENST00000395265.1_Missense_Mutation_p.E286K	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	286	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.E286K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AATGCATCCTCAGCCATACAA	0.393																																						uc001jlw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(856-858)GAG>AAG		rhotekin 2							69.0	66.0	67.0					10																	63977986		2203	4300	6503	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:63977986C>T	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.856G>A	10.37:g.63977986C>T	ENSP00000362894:p.Glu286Lys					RTKN2_uc009xpf.1_Missense_Mutation_p.E67K	p.E286K	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN			8	953	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		286			PH.		Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.856G>A	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993126	0.54041	.	.	ENSG00000182010	ENST00000315289;ENST00000395265;ENST00000373789	T;T;T	0.44083	0.93;1.35;1.39	5.42	2.52	0.30459	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.710678	0.14894	N	0.292204	T	0.31009	0.0783	L	0.47716	1.5	0.22266	N	0.999242	P;P	0.36990	0.577;0.483	B;B	0.34489	0.184;0.084	T	0.12578	-1.0542	10	0.39692	T	0.17	-6.0795	5.7219	0.17992	0.0:0.5781:0.1334:0.2885	.	67;286	Q5SVY4;Q8IZC4	.;RTKN2_HUMAN	K	67;286;286	ENSP00000325379:E67K;ENSP00000378682:E286K;ENSP00000362894:E286K	ENSP00000325379:E67K	E	-	1	0	RTKN2	63647992	0.972000	0.33761	0.992000	0.48379	0.995000	0.86356	0.213000	0.17521	0.338000	0.23692	0.655000	0.94253	GAG		0.393	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1		NM_145307		13	78	0	0	0	0.013537	0	13	78		
ZNF365	22891	broad.mit.edu	37	10	64415153	64415153	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:64415153G>A	ENST00000395251.1	+	4	487	c.153G>A	c.(151-153)atG>atA	p.M51I	ZNF365_ENST00000395249.1_Intron|AC067751.1_ENST00000579246.1_RNA|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	51								p.M51I(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGCCACTGATGAAACAGGCTC	0.478																																						uc001jmd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(151-153)ATG>ATA		zinc finger protein 365 isoform D							77.0	72.0	73.0					10																	64415153		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64415153G>A	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.153G>A	10.37:g.64415153G>A	ENSP00000378672:p.Met51Ile					ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron	p.M51I	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN			4	487	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		51						Missense_Mutation	SNP	ENST00000395251.1	37	c.153G>A	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	G	6.956	0.546247	0.13312	.	.	ENSG00000138311	ENST00000395251	T	0.48522	0.81	4.75	0.0416	0.14213	.	.	.	.	.	T	0.25568	0.0622	N	0.08118	0	0.09310	N	0.999996	B	0.14012	0.009	B	0.12837	0.008	T	0.21621	-1.0240	9	0.87932	D	0	.	7.0425	0.25029	0.4867:0.0:0.5133:0.0	.	51	Q70YC4	TALAN_HUMAN	I	51	ENSP00000378672:M51I	ENSP00000378672:M51I	M	+	3	0	ZNF365	64085159	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.026000	0.13599	-0.087000	0.12528	0.655000	0.94253	ATG		0.478	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1		NM_014951		11	40	0	0	0	0.00245	0	11	40		
PRF1	5551	broad.mit.edu	37	10	72360406	72360406	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:72360406G>C	ENST00000441259.1	-	2	413	c.253C>G	c.(253-255)Ctc>Gtc	p.L85V	PRF1_ENST00000373209.2_Missense_Mutation_p.L85V	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	85	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)	p.L85V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGGCGCTGGAGGGTGCCCTCC	0.667			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													uc009xqg.2		NaN	yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(253-255)CTC>GTC		perforin 1 precursor							30.0	30.0	30.0					10																	72360406		2202	4300	6502	SO:0001583	missense	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72360406G>C	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.253C>G	10.37:g.72360406G>C	ENSP00000398568:p.Leu85Val					PRF1_uc001jrf.3_Missense_Mutation_p.L85V	p.L85V	NM_001083116	NP_001076585	P14222	PERF_HUMAN			2	414	-			85			MACPF.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.253C>G	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	G	8.461	0.855336	0.17106	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.91464	-2.85;-2.85	5.12	0.693	0.18056	Membrane attack complex component/perforin (MACPF) domain (1);	0.893166	0.09808	N	0.753218	D	0.87830	0.6276	M	0.74647	2.275	0.09310	N	0.999996	B	0.26002	0.139	B	0.19391	0.025	T	0.71718	-0.4508	10	0.20519	T	0.43	-13.0853	8.763	0.34687	0.0:0.2598:0.4567:0.2835	.	85	P14222	PERF_HUMAN	V	85	ENSP00000362305:L85V;ENSP00000398568:L85V	ENSP00000316746:L85V	L	-	1	0	PRF1	72030412	0.023000	0.18921	0.001000	0.08648	0.385000	0.30292	1.470000	0.35354	-0.067000	0.12976	0.561000	0.74099	CTC		0.667	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2		NM_005041		3	28	0	0	0	0.001168	0	3	28		
SLC29A3	55315	broad.mit.edu	37	10	73122191	73122191	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:73122191C>T	ENST00000373189.5	+	6	1306	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	418					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)	p.L418L(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CCGCACTCCTCAGCTCCCTGC	0.642																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	uc001jrr.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1252-1254)CTC>CTT		solute carrier family 29 (nucleoside							98.0	86.0	90.0					10																	73122191		2203	4300	6503	SO:0001819	synonymous_variant	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73122191C>T	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.1254C>T	10.37:g.73122191C>T						SLC29A3_uc001jrs.3_3'UTR|SLC29A3_uc010qjq.1_Silent_p.L272L|SLC29A3_uc001jrt.3_Silent_p.L212L|SLC29A3_uc001jru.3_Silent_p.L230L	p.L418L	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN			6	1311	+			418			Helical; (Potential).		B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Silent	SNP	ENST00000373189.5	37	c.1254C>T	CCDS7310.1																																																																																				0.642	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1		NM_018344		35	111	0	0	0	0.00623	0	35	111		
CAMK2G	818	broad.mit.edu	37	10	75574801	75574801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:75574801G>A	ENST00000351293.3	-	18	1517	c.1460C>T	c.(1459-1461)tCa>tTa	p.S487L	CAMK2G_ENST00000423381.1_Missense_Mutation_p.S580L|CAMK2G_ENST00000372765.1_Missense_Mutation_p.S508L|RP11-574K11.5_ENST00000434147.1_RNA|CAMK2G_ENST00000322635.3_Missense_Mutation_p.S519L|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Missense_Mutation_p.S521L|CAMK2G_ENST00000322680.3_Missense_Mutation_p.S548L|CAMK2G_ENST00000394762.2_Missense_Mutation_p.S525L	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	550					calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.S487L(1)|p.S548L(1)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	AGGGGCCCCTGAGCAGTGATA	0.657																																						uc001jvm.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(1)|stomach(1)	2						c.(1642-1644)TCA>TTA		calcium/calmodulin-dependent protein kinase II							40.0	33.0	35.0					10																	75574801		2203	4300	6503	SO:0001583	missense	818				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:75574801G>A	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.1460C>T	10.37:g.75574801G>A	ENSP00000277853:p.Ser487Leu					CAMK2G_uc001jvo.1_Missense_Mutation_p.S519L|CAMK2G_uc001jvq.1_Missense_Mutation_p.S496L|CAMK2G_uc001jvr.1_Missense_Mutation_p.S487L|CAMK2G_uc001jvp.1_Missense_Mutation_p.S510L|CAMK2G_uc001jvs.1_Missense_Mutation_p.S531L|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.S488L|CAMK2G_uc009xrp.1_Missense_Mutation_p.S137L	p.S548L	NM_172171	NP_751911	Q13555	KCC2G_HUMAN			20	1762	-	Prostate(51;0.0112)		550					O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Missense_Mutation	SNP	ENST00000351293.3	37	c.1643C>T	CCDS7336.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486212	0.96323	.	.	ENSG00000148660	ENST00000351293;ENST00000322635;ENST00000423381;ENST00000394763;ENST00000322680;ENST00000394762;ENST00000433289;ENST00000305762;ENST00000372765	T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.42	5.42	0.78866	Calcium/calmodulin-dependent protein kinase II, association-domain (1);	0.000000	0.64402	D	0.000002	D	0.85548	0.5722	M	0.79693	2.465	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;1.0;0.999;0.996;0.998	D;D;D;D;D;P;D	0.97110	0.93;0.941;0.999;1.0;0.975;0.812;0.957	D	0.86746	0.1957	10	0.62326	D	0.03	.	19.2234	0.93808	0.0:0.0:1.0:0.0	.	521;580;487;510;550;519;548	Q13555-4;Q13555-6;Q13555-10;A8K6N9;Q13555;Q13555-5;Q13555-8	.;.;.;.;KCC2G_HUMAN;.;.	L	487;519;580;550;548;525;445;521;508	ENSP00000277853:S487L;ENSP00000315599:S519L;ENSP00000410298:S580L;ENSP00000319060:S548L;ENSP00000378243:S525L;ENSP00000393784:S445L;ENSP00000307082:S521L;ENSP00000361851:S508L	ENSP00000307082:S521L	S	-	2	0	CAMK2G	75244807	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.534000	0.85438	0.655000	0.94253	TCA		0.657	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1		NM_172169		10	19	0	0	0	0.010729	0	10	19		
CAMK2G	818	broad.mit.edu	37	10	75574821	75574821	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:75574821G>C	ENST00000351293.3	-	18	1497	c.1440C>G	c.(1438-1440)ctC>ctG	p.L480L	CAMK2G_ENST00000423381.1_Silent_p.L573L|CAMK2G_ENST00000372765.1_Silent_p.L501L|RP11-574K11.5_ENST00000434147.1_RNA|CAMK2G_ENST00000322635.3_Silent_p.L512L|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Silent_p.L514L|CAMK2G_ENST00000322680.3_Silent_p.L541L|CAMK2G_ENST00000394762.2_Silent_p.L518L	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	543					calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.L480L(1)|p.L541L(1)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	AGTGGACATTGAGCCACTTGC	0.662																																						uc001jvm.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(1)|stomach(1)	2						c.(1621-1623)CTC>CTG		calcium/calmodulin-dependent protein kinase II							58.0	45.0	49.0					10																	75574821		2203	4300	6503	SO:0001819	synonymous_variant	818				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:75574821G>C	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.1440C>G	10.37:g.75574821G>C						CAMK2G_uc001jvo.1_Silent_p.L512L|CAMK2G_uc001jvq.1_Silent_p.L489L|CAMK2G_uc001jvr.1_Silent_p.L480L|CAMK2G_uc001jvp.1_Silent_p.L503L|CAMK2G_uc001jvs.1_Silent_p.L524L|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Silent_p.L481L|CAMK2G_uc009xrp.1_Silent_p.L130L	p.L541L	NM_172171	NP_751911	Q13555	KCC2G_HUMAN			20	1742	-	Prostate(51;0.0112)		543					O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Silent	SNP	ENST00000351293.3	37	c.1623C>G	CCDS7336.1	.	.	.	.	.	.	.	.	.	.	G	9.066	0.995669	0.19043	.	.	ENSG00000148660	ENST00000441192	.	.	.	5.42	4.5	0.54988	.	.	.	.	.	T	0.61615	0.2361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58787	-0.7575	4	.	.	.	.	10.9516	0.47332	0.0748:0.2447:0.6806:0.0	.	.	.	.	E	320	.	.	Q	-	1	0	CAMK2G	75244827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.037000	0.30241	2.534000	0.85438	0.655000	0.94253	CAA		0.662	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1		NM_172169		13	27	0	0	0	0.00245	0	13	27		
LRIT2	340745	broad.mit.edu	37	10	85984808	85984808	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:85984808T>G	ENST00000372113.4	-	2	178	c.173A>C	c.(172-174)aAg>aCg	p.K58T	LRIT2_ENST00000538192.1_Missense_Mutation_p.K58T	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	58						integral component of membrane (GO:0016021)		p.K58T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TCTCACTTGCTTGAACTCTTC	0.418																																						uc001kcy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(172-174)AAG>ACG		leucine rich repeat containing 22 precursor							70.0	78.0	76.0					10																	85984808		2202	4300	6502	SO:0001583	missense	340745					integral to membrane		g.chr10:85984808T>G		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.173A>C	10.37:g.85984808T>G	ENSP00000361185:p.Lys58Thr					LRIT2_uc010qmc.1_Missense_Mutation_p.K58T	p.K58T	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN			2	181	-			58					B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.173A>C	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.563202	0.27915	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.52526	0.66;0.66	5.71	4.58	0.56647	Leucine-rich repeat-containing N-terminal (1);	0.173953	0.49916	D	0.000125	T	0.20536	0.0494	N	0.05199	-0.095	0.31187	N	0.701352	B;B	0.30326	0.276;0.276	B;B	0.29267	0.1;0.1	T	0.30679	-0.9970	10	0.05436	T	0.98	.	8.1541	0.31158	0.0:0.1572:0.0:0.8428	.	58;58	B7ZME6;A6NDA9	.;LRIT2_HUMAN	T	58	ENSP00000361185:K58T;ENSP00000438264:K58T	ENSP00000361185:K58T	K	-	2	0	LRIT2	85974788	0.932000	0.31603	0.978000	0.43139	0.990000	0.78478	0.904000	0.28491	0.994000	0.38892	0.477000	0.44152	AAG		0.418	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4		XM_291697		30	126	0	0	0	0.010818	0	30	126		
TNKS2	80351	broad.mit.edu	37	10	93572839	93572839	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:93572839C>G	ENST00000371627.4	+	2	678	c.299C>G	c.(298-300)tCt>tGt	p.S100C		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	100					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.S100C(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AATGCATGCTCTTTTGGTCAT	0.443																																						uc001khp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(3)|skin(3)|ovary(1)|lung(1)	8						c.(298-300)TCT>TGT		tankyrase, TRF1-interacting ankyrin-related							192.0	163.0	173.0					10																	93572839		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93572839C>G	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.299C>G	10.37:g.93572839C>G	ENSP00000360689:p.Ser100Cys						p.S100C	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			2	596	+		Colorectal(252;0.162)	100			ANK 2.		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.299C>G	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	C	32	5.131790	0.94473	.	.	ENSG00000107854	ENST00000371627	T	0.66280	-0.2	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	0.000000	0.56097	D	0.000040	T	0.67785	0.2930	N	0.16130	0.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68435	-0.5409	10	0.39692	T	0.17	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	100	Q9H2K2	TNKS2_HUMAN	C	100	ENSP00000360689:S100C	ENSP00000360689:S100C	S	+	2	0	TNKS2	93562819	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.705000	0.84606	2.826000	0.97356	0.655000	0.94253	TCT		0.443	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1		NM_025235		26	116	0	0	0	0.003954	0	26	116		
KIF11	3832	broad.mit.edu	37	10	94405256	94405256	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:94405256G>A	ENST00000260731.3	+	18	2494	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	802					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)	p.D802N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAAACACTCTGATAAACTCAA	0.363																																					Colon(47;212 1003 2764 4062 8431)	uc001kic.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(2404-2406)GAT>AAT		kinesin family member 11							69.0	70.0	70.0					10																	94405256		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94405256G>A	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2404G>A	10.37:g.94405256G>A	ENSP00000260731:p.Asp802Asn					KIF11_uc010qnq.1_Intron	p.D802N	NM_004523	NP_004514	P52732	KIF11_HUMAN			18	2712	+			802					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.2404G>A	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	G	8.011	0.757515	0.15846	.	.	ENSG00000138160	ENST00000260731	T	0.72394	-0.65	6.08	4.16	0.48862	.	0.787387	0.11979	N	0.511006	T	0.54046	0.1834	N	0.24115	0.695	0.09310	N	0.999992	B	0.27823	0.19	B	0.18871	0.023	T	0.39121	-0.9629	10	0.33141	T	0.24	.	9.1294	0.36835	0.1764:0.0:0.8236:0.0	.	802	P52732	KIF11_HUMAN	N	802	ENSP00000260731:D802N	ENSP00000260731:D802N	D	+	1	0	KIF11	94395236	0.846000	0.29590	0.595000	0.28798	0.056000	0.15407	1.027000	0.30115	0.829000	0.34733	0.591000	0.81541	GAT		0.363	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1		NM_004523		17	84	0	0	0	0.006122	0	17	84		
CYP2C19	1557	broad.mit.edu	37	10	96540313	96540313	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:96540313C>T	ENST00000371321.3	+	4	621	c.539C>T	c.(538-540)tCc>tTc	p.S180F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	180					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.S180F(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GTGATCTGCTCCATTATTTTC	0.373																																						uc010qnz.1		NaN																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|urinary_tract(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(538-540)TCC>TTC		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						173.0	169.0	170.0					10																	96540313		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96540313C>T	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.539C>T	10.37:g.96540313C>T	ENSP00000360372:p.Ser180Phe					CYP2C19_uc009xus.1_Missense_Mutation_p.S45F|CYP2C19_uc010qny.1_Missense_Mutation_p.S158F	p.S180F	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	4	539	+		Colorectal(252;0.09)	180					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.539C>T	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468512	0.63625	.	.	ENSG00000165841	ENST00000371321	T	0.70986	-0.53	4.13	4.13	0.48395	.	0.079393	0.51477	U	0.000094	D	0.85470	0.5704	M	0.88570	2.965	0.35574	D	0.805693	D	0.89917	1.0	D	0.77557	0.99	D	0.91511	0.5227	10	0.87932	D	0	.	13.9288	0.63981	0.0:1.0:0.0:0.0	.	180	P33261	CP2CJ_HUMAN	F	180	ENSP00000360372:S180F	ENSP00000360372:S180F	S	+	2	0	CYP2C19	96530303	0.999000	0.42202	0.996000	0.52242	0.944000	0.59088	3.978000	0.56881	1.845000	0.53610	0.502000	0.49764	TCC		0.373	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1		NM_000769		57	184	0	0	0	0.01441	0	57	184		
LCOR	84458	broad.mit.edu	37	10	98715053	98715053	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:98715053G>A	ENST00000371097.4	+	8	1222	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	LCOR_ENST00000540664.1_Missense_Mutation_p.E226K|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000356016.3_Missense_Mutation_p.E226K|LCOR_ENST00000371103.3_Missense_Mutation_p.E226K			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	226					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E226K(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		TTTTCTTGCAGAAAACTCTGC	0.433																																						uc001kms.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(676-678)GAA>AAA		ligand dependent nuclear receptor corepressor							65.0	65.0	65.0					10																	98715053		2203	4300	6503	SO:0001583	missense	84458					nucleus	DNA binding	g.chr10:98715053G>A		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.676G>A	10.37:g.98715053G>A	ENSP00000360138:p.Glu226Lys					LCOR_uc001kmr.2_Missense_Mutation_p.E226K|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.E226K|LCOR_uc001kmu.1_Missense_Mutation_p.E226K	p.E226K	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)	8	1197	+		Colorectal(252;0.162)	226					D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	37	c.676G>A	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763547	0.49574	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.34	5.34	0.76211	.	0.050521	0.85682	D	0.000000	T	0.65037	0.2653	N	0.19112	0.55	0.53688	D	0.999974	D;D	0.60575	0.98;0.988	D;D	0.75484	0.968;0.986	T	0.66795	-0.5833	9	0.46703	T	0.11	-6.1829	19.4065	0.94649	0.0:0.0:1.0:0.0	.	226;226	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	K	226	.	ENSP00000348298:E226K	E	+	1	0	LCOR	98705043	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.301000	0.96167	2.663000	0.90544	0.650000	0.86243	GAA		0.433	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2				23	69	0	0	0	0.00278	0	23	69		
ZFYVE27	118813	broad.mit.edu	37	10	99519006	99519006	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:99519006G>C	ENST00000393677.4	+	13	1389	c.1185G>C	c.(1183-1185)caG>caC	p.Q395H	ZFYVE27_ENST00000453958.2_3'UTR|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.Q270H|ZFYVE27_ENST00000477521.1_3'UTR|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.Q388H|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.Q356H|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.Q302H|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.Q400H|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.Q295H	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	395					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)	p.Q400H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CTGAAGCCCAGAGGGAGACTG	0.557											OREG0020422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001koo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1183-1185)CAG>CAC		zinc finger, FYVE domain containing 27 isoform							157.0	135.0	142.0					10																	99519006		2203	4300	6503	SO:0001583	missense	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99519006G>C	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.1185G>C	10.37:g.99519006G>C	ENSP00000377282:p.Gln395His		OREG0020422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1344	ZFYVE27_uc001kon.2_Missense_Mutation_p.Q400H|ZFYVE27_uc001koq.2_Missense_Mutation_p.Q302H|ZFYVE27_uc010qpa.1_Missense_Mutation_p.Q270H|ZFYVE27_uc001kop.2_Missense_Mutation_p.Q388H|ZFYVE27_uc010qpb.1_Missense_Mutation_p.Q295H|ZFYVE27_uc010qpc.1_RNA|ZFYVE27_uc010qpd.1_Missense_Mutation_p.Q356H|ZFYVE27_uc001kol.1_Missense_Mutation_p.Q395H|ZFYVE27_uc001kom.1_Missense_Mutation_p.Q388H	p.Q395H	NM_144588	NP_653189	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	13	1385	+		Colorectal(252;0.0846)	395			Extracellular (Potential).|FYVE-type.		B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	c.1185G>C	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868940	0.72065	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000370610;ENST00000393677;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.53	3.66	0.41972	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.80686	0.4670	M	0.68317	2.08	0.53005	D	0.999961	D;D;D;D;D;D;D	0.76494	0.998;0.998;0.995;0.997;0.999;0.997;0.997	D;D;D;D;D;D;D	0.85130	0.997;0.99;0.99;0.975;0.997;0.987;0.997	T	0.80139	-0.1507	10	0.62326	D	0.03	-23.2391	10.571	0.45200	0.1498:0.0:0.8502:0.0	.	356;295;270;302;400;388;395	B7Z404;B7Z3S0;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;.;ZFY27_HUMAN	H	356;302;270;295;395;388;400;378	ENSP00000337993:Q356H;ENSP00000350148:Q302H;ENSP00000359646:Q270H;ENSP00000359642:Q295H;ENSP00000377282:Q395H;ENSP00000353069:Q388H;ENSP00000348593:Q400H;ENSP00000409594:Q378H	ENSP00000337993:Q356H	Q	+	3	2	ZFYVE27	99508996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.264000	0.58859	0.679000	0.31345	0.591000	0.81541	CAG		0.557	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2		NM_144588		8	85	0	0	0	0.00308	0	8	85		
FGF8	2253	broad.mit.edu	37	10	103531253	103531253	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:103531253G>C	ENST00000344255.3	-	5	377	c.378C>G	c.(376-378)atC>atG	p.I126M	FGF8_ENST00000347978.2_Missense_Mutation_p.I108M|FGF8_ENST00000346714.3_Missense_Mutation_p.I97M|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000320185.2_Missense_Mutation_p.I137M			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	126					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)	p.I137M(1)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TGTTCATGCAGATGTAGAGGC	0.607																																						uc001ktp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(376-378)ATC>ATG		fibroblast growth factor 8 isoform E precursor							123.0	105.0	111.0					10																	103531253		2203	4300	6503	SO:0001583	missense	2253				bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr10:103531253G>C	D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"""Endogenous ligands"""	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.378C>G	10.37:g.103531253G>C	ENSP00000340039:p.Ile126Met					FGF8_uc001ktq.1_Missense_Mutation_p.I137M|FGF8_uc001ktr.1_Missense_Mutation_p.I108M|FGF8_uc001kts.1_Missense_Mutation_p.I97M|FGF8_uc009xwr.1_Missense_Mutation_p.I33M	p.I126M	NM_033164	NP_149354	P55075	FGF8_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	5	548	-		Colorectal(252;0.122)	126					A1A514|Q14915|Q15766	Missense_Mutation	SNP	ENST00000344255.3	37	c.378C>G	CCDS7517.1	.	.	.	.	.	.	.	.	.	.	g	12.23	1.876404	0.33162	.	.	ENSG00000107831	ENST00000344255;ENST00000320185;ENST00000346714;ENST00000347978	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	4.69	2.84	0.33178	.	0.117444	0.56097	D	0.000025	D	0.93779	0.8011	M	0.85542	2.76	0.53005	D	0.999964	D;D;D;D	0.71674	0.979;0.979;0.979;0.998	D;D;D;D	0.74674	0.932;0.919;0.919;0.984	D	0.92930	0.6363	10	0.72032	D	0.01	-4.2818	10.5002	0.44802	0.1575:0.0:0.8425:0.0	.	97;108;137;126	P55075-2;P55075-3;P55075-4;P55075	.;.;.;FGF8_HUMAN	M	126;137;97;108	ENSP00000340039:I126M;ENSP00000321797:I137M;ENSP00000344306:I97M;ENSP00000321945:I108M	ENSP00000321797:I137M	I	-	3	3	FGF8	103521243	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	2.174000	0.42482	0.431000	0.26258	-0.265000	0.10407	ATC		0.607	FGF8-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049999.1		NM_006119, NM_033165		15	69	0	0	0	0.00499	0	15	69		
NT5C2	22978	broad.mit.edu	37	10	104857052	104857052	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:104857052G>A	ENST00000404739.3	-	9	790	c.767C>T	c.(766-768)aCa>aTa	p.T256I	NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Missense_Mutation_p.T227I|NT5C2_ENST00000343289.5_Missense_Mutation_p.T256I			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	256					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)	p.T256I(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ACTTACATCTGTATATTTATA	0.348																																						uc001kwo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(766-768)ACA>ATA		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						112.0	109.0	110.0					10																	104857052		2203	4300	6503	SO:0001583	missense	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104857052G>A	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.767C>T	10.37:g.104857052G>A	ENSP00000383960:p.Thr256Ile					NT5C2_uc010qqp.1_Missense_Mutation_p.T227I|NT5C2_uc001kwq.2_Missense_Mutation_p.T256I|NT5C2_uc001kwp.2_Missense_Mutation_p.T103I	p.T256I	NM_012229	NP_036361	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	11	953	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	256					B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	c.767C>T	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	G	31	5.104585	0.94245	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000452156	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	6.16	6.16	0.99307	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.63757	0.2538	M	0.92317	3.295	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.69824	0.966;0.966;0.966	T	0.70260	-0.4921	10	0.87932	D	0	-8.9942	20.8598	0.99761	0.0:0.0:1.0:0.0	.	227;103;256	B7Z382;B3KXN5;P49902	.;.;5NTC_HUMAN	I	256;256;227;264	ENSP00000339479:T256I;ENSP00000383960:T256I;ENSP00000392236:T227I;ENSP00000396468:T264I	ENSP00000339479:T256I	T	-	2	0	NT5C2	104847042	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.831000	0.99420	2.937000	0.99478	0.650000	0.86243	ACA		0.348	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1		NM_012229		19	99	0	0	0	0.007413	0	19	99		
CFAP43	80217	broad.mit.edu	37	10	105903397	105903397	+	Splice_Site	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:105903397C>T	ENST00000357060.3	-	32	4060	c.3945G>A	c.(3943-3945)agG>agA	p.R1315R	WDR96_ENST00000479392.1_5'Flank|WDR96_ENST00000428666.1_Splice_Site_p.R1287R	NM_025145.5	NP_079421.5												p.R1315R(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTTGGAAATCCTGGTATTAC	0.418																																						uc001kxw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(3943-3945)AGG>AGA		hypothetical protein LOC80217							81.0	80.0	81.0					10																	105903397		2203	4300	6503	SO:0001630	splice_region_variant	80217							g.chr10:105903397C>T																												ENST00000357060.3:c.3945-1G>A	10.37:g.105903397C>T						C10orf79_uc009xxq.2_Silent_p.R594R	p.R1315R	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	32	4061	-		Colorectal(252;0.178)	1315						Silent	SNP	ENST00000357060.3	37	c.3945G>A	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346051	0.24426	.	.	ENSG00000197748	ENST00000457071;ENST00000434629	.	.	.	6.16	4.33	0.51752	.	.	.	.	.	T	0.63534	0.2519	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60796	-0.7192	4	.	.	.	.	12.5656	0.56308	0.0:0.8659:0.0:0.1341	.	.	.	.	E	164;647	.	.	G	-	2	0	WDR96	105893387	0.959000	0.32827	0.960000	0.40013	0.402000	0.30811	0.948000	0.29096	0.948000	0.37687	0.650000	0.86243	GGA		0.418	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				Silent	3	27	0	0	0	0.004672	0	3	27		
TDRD1	56165	broad.mit.edu	37	10	115985891	115985891	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:115985891G>A	ENST00000369280.1	+	22	3551	c.3091G>A	c.(3091-3093)Gaa>Aaa	p.E1031K	TDRD1_ENST00000369281.2_Missense_Mutation_p.E917K|TDRD1_ENST00000422662.1_Missense_Mutation_p.E635K|TDRD1_ENST00000251864.2_Missense_Mutation_p.E1031K|TDRD1_ENST00000369282.1_Missense_Mutation_p.E1031K			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1031	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.E1031K(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGGAAACATTGAAACCCTGCC	0.438																																						uc001lbg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(3091-3093)GAA>AAA		tudor domain containing 1							140.0	124.0	130.0					10																	115985891		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115985891G>A	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.3091G>A	10.37:g.115985891G>A	ENSP00000358286:p.Glu1031Lys					TDRD1_uc001lbf.2_Missense_Mutation_p.E908K|TDRD1_uc001lbh.1_Missense_Mutation_p.E1018K|TDRD1_uc001lbi.1_Missense_Mutation_p.E1022K|TDRD1_uc010qsc.1_Missense_Mutation_p.E635K|TDRD1_uc001lbj.2_Missense_Mutation_p.E740K	p.E1031K	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	22	3244	+		Colorectal(252;0.172)|Breast(234;0.188)	1031			Tudor 4.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.3091G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.363287	0.82353	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	6.01	6.01	0.97437	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.108368	0.64402	D	0.000007	T	0.47985	0.1475	M	0.90814	3.15	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.998;1.0	D;D;D;D;D	0.97110	1.0;0.996;0.997;0.994;0.998	T	0.52961	-0.8505	10	0.66056	D	0.02	-31.2011	18.7017	0.91623	0.0:0.0:1.0:0.0	.	635;1031;917;1031;917	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	K	1031;1031;917;635;1031	ENSP00000358288:E1031K;ENSP00000251864:E1031K;ENSP00000358287:E917K;ENSP00000402794:E635K;ENSP00000358286:E1031K	ENSP00000251864:E1031K	E	+	1	0	TDRD1	115975881	1.000000	0.71417	0.969000	0.41365	0.315000	0.28087	7.749000	0.85096	2.861000	0.98227	0.650000	0.86243	GAA		0.438	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2				28	67	0	0	0	0.008361	0	28	67		
TRUB1	142940	broad.mit.edu	37	10	116702491	116702491	+	Missense_Mutation	SNP	G	G	A	rs143607039		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:116702491G>A	ENST00000298746.3	+	2	435	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	125					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.R125Q(3)		breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		AGCGCAGCCCGAGGAGTTCTG	0.438																																						uc001lcd.2		NaN																	3	Substitution - Missense(3)		urinary_tract(1)|large_intestine(1)|breast(1)		0						c.(373-375)CGA>CAA		TruB pseudouridine (psi) synthase homolog 1		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	62.0	63.0	63.0		374	-1.8	1.0	10	dbSNP_134	63	0,8600		0,0,4300	no	missense	TRUB1	NM_139169.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	125/350	116702491	1,13005	2203	4300	6503	SO:0001583	missense	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116702491G>A	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.374G>A	10.37:g.116702491G>A	ENSP00000298746:p.Arg125Gln					TRUB1_uc010qsl.1_Missense_Mutation_p.R27Q	p.R125Q	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	2	435	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	125					B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	c.374G>A	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673422	0.29693	2.27E-4	0.0	ENSG00000165832	ENST00000298746	T	0.13538	2.58	6.07	-1.76	0.08006	Pseudouridine synthase, catalytic domain (1);	0.780271	0.11522	N	0.555625	T	0.05181	0.0138	N	0.03194	-0.395	0.22745	N	0.998781	B	0.15473	0.013	B	0.18561	0.022	T	0.38714	-0.9648	10	0.37606	T	0.19	0.0275	6.6592	0.23004	0.5867:0.1744:0.2389:0.0	.	125	Q8WWH5	TRUB1_HUMAN	Q	125	ENSP00000298746:R125Q	ENSP00000298746:R125Q	R	+	2	0	TRUB1	116692481	0.298000	0.24417	0.990000	0.47175	0.994000	0.84299	0.618000	0.24373	-0.226000	0.09899	-0.136000	0.14681	CGA		0.438	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1		NM_139169		13	52	0	0	0	0.003163	0	13	52		
EIF3A	8661	broad.mit.edu	37	10	120809348	120809348	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:120809348C>G	ENST00000369144.3	-	17	2750	c.2623G>C	c.(2623-2625)Gag>Cag	p.E875Q	EIF3A_ENST00000541549.1_Missense_Mutation_p.E841Q	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.E875Q(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGTCTTCTCTCTTCCTCTCTA	0.393																																						uc001ldu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2623-2625)GAG>CAG		eukaryotic translation initiation factor 3,							223.0	220.0	221.0					10																	120809348		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120809348C>G	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2623G>C	10.37:g.120809348C>G	ENSP00000358140:p.Glu875Gln					EIF3A_uc010qsu.1_Missense_Mutation_p.E841Q|EIF3A_uc009xzg.1_5'UTR	p.E875Q	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	17	2769	-		Lung NSC(174;0.094)|all_lung(145;0.123)	875			Glu-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.2623G>C	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.832789	0.71258	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.27104	1.69;1.69	4.7	4.7	0.59300	.	0.000000	0.37669	U	0.001986	T	0.41166	0.1147	L	0.52126	1.63	0.80722	D	1	D	0.61697	0.99	P	0.57204	0.815	T	0.15954	-1.0419	10	0.45353	T	0.12	-19.7871	18.5316	0.90995	0.0:1.0:0.0:0.0	.	875	Q14152	EIF3A_HUMAN	Q	875;841	ENSP00000358140:E875Q;ENSP00000438178:E841Q	ENSP00000358140:E875Q	E	-	1	0	EIF3A	120799338	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.055000	0.76656	2.549000	0.85964	0.655000	0.94253	GAG		0.393	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1		NM_003750		81	227	0	0	0	0.01441	0	81	227		
PLEKHA1	59338	broad.mit.edu	37	10	124152833	124152833	+	Silent	SNP	C	C	T	rs142005373		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:124152833C>T	ENST00000368990.3	+	2	248	c.117C>T	c.(115-117)ttC>ttT	p.F39F	PLEKHA1_ENST00000368989.2_Silent_p.F39F|PLEKHA1_ENST00000433307.1_Silent_p.F39F|PLEKHA1_ENST00000538022.1_Silent_p.F39F|PLEKHA1_ENST00000368988.1_Silent_p.F39F|PLEKHA1_ENST00000494222.1_3'UTR	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	39	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)	p.F39F(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AAGATAGTTTCGTGTGGTACA	0.343																																						uc001lge.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|large_intestine(1)	kidney(1)	1						c.(115-117)TTC>TTT		pleckstrin homology domain containing, family A		C	,,	1,4405	2.1+/-5.4	0,1,2202	74.0	76.0	76.0		117,117,117	1.2	1.0	10	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PLEKHA1	NM_001001974.2,NM_001195608.1,NM_021622.4	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	39/405,39/335,39/405	124152833	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	59338				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding	g.chr10:124152833C>T	AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.117C>T	10.37:g.124152833C>T						PLEKHA1_uc001lgf.1_Silent_p.F39F|PLEKHA1_uc001lgg.1_Silent_p.F39F|PLEKHA1_uc001lgh.2_Silent_p.F39F	p.F39F	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN			2	240	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	39			PH 1.		B3KQ55|D3DRE2|Q9BVK0	Silent	SNP	ENST00000368990.3	37	c.117C>T	CCDS7629.1																																																																																				0.343	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1		NM_001001974		22	73	0	0	0	0.014323	0	22	73		
DMBT1	1755	broad.mit.edu	37	10	124358515	124358515	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:124358515G>T	ENST00000338354.3	+	26	3288	c.3182G>T	c.(3181-3183)cGc>cTc	p.R1061L	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.R562L|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1051L|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1051L|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1061L|DMBT1_ENST00000330163.4_Missense_Mutation_p.R562L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1061	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.R1061L(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GATGATGTGCGCTGCTCAGGA	0.592																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	central_nervous_system(7)	7						c.(3181-3183)CGC>CTC		deleted in malignant brain tumors 1 isoform b							131.0	128.0	129.0					10																	124358515		1976	4162	6138	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124358515G>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3182G>T	10.37:g.124358515G>T	ENSP00000342210:p.Arg1061Leu					DMBT1_uc001lgl.1_Missense_Mutation_p.R1051L|DMBT1_uc001lgm.1_Missense_Mutation_p.R562L|DMBT1_uc009xzz.1_Missense_Mutation_p.R1061L|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.R22L	p.R1061L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			26	3288	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1061			SRCR 8.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.3182G>T		.	.	.	.	.	.	.	.	.	.	G	12.64	1.998750	0.35226	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	3.57	0.967	0.19674	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.791616	0.10261	U	0.695942	T	0.51958	0.1705	L	0.58302	1.8	0.09310	N	1	D;P;D;B;B	0.76494	0.964;0.951;0.999;0.255;0.3	P;P;D;B;B	0.70935	0.863;0.706;0.971;0.066;0.109	T	0.37502	-0.9703	10	0.27082	T	0.32	.	4.5078	0.11896	0.2949:0.2658:0.4393:0.0	.	568;1061;562;1051;1061	Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	L	1061;1061;1061;1061;1061;1061;562;1051;562;562;1061;1051;562	ENSP00000342210:R1061L;ENSP00000343175:R1051L;ENSP00000327747:R562L;ENSP00000357905:R1061L;ENSP00000357951:R1051L;ENSP00000357952:R562L	ENSP00000331522:R562L	R	+	2	0	DMBT1	124348505	0.000000	0.05858	0.009000	0.14445	0.259000	0.26198	-2.418000	0.01034	-0.049000	0.13379	0.558000	0.71614	CGC		0.592	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2		NM_004406		51	151	1	0	1.51926e-22	0.01441	1.57703e-22	51	151		
DMBT1	1755	broad.mit.edu	37	10	124358521	124358521	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:124358521C>G	ENST00000338354.3	+	26	3294	c.3188C>G	c.(3187-3189)tCa>tGa	p.S1063*	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.S564*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.S1053*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.S1053*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.S1063*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.S564*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1063	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.S1063*(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGCGCTGCTCAGGACACGAG	0.607																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NaN																	3	Substitution - Nonsense(3)		urinary_tract(3)	central_nervous_system(7)	7						c.(3187-3189)TCA>TGA		deleted in malignant brain tumors 1 isoform b							126.0	123.0	124.0					10																	124358521		1970	4154	6124	SO:0001587	stop_gained	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124358521C>G		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3188C>G	10.37:g.124358521C>G	ENSP00000342210:p.Ser1063*					DMBT1_uc001lgl.1_Nonsense_Mutation_p.S1053*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.S564*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.S1063*|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Nonsense_Mutation_p.S24*	p.S1063*	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			26	3294	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1063			SRCR 8.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Nonsense_Mutation	SNP	ENST00000338354.3	37	c.3188C>G		.	.	.	.	.	.	.	.	.	.	C	36	5.681986	0.96774	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	.	.	.	3.57	1.64	0.23874	.	0.653572	0.11662	U	0.541683	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	1.0884	0.01658	0.1381:0.3621:0.2201:0.2798	.	.	.	.	X	1063;1063;1063;1063;1063;1063;564;1053;564;564;1063;1053;564	.	ENSP00000331522:S564X	S	+	2	0	DMBT1	124348511	0.000000	0.05858	0.013000	0.15412	0.248000	0.25809	-3.696000	0.00390	0.151000	0.19162	0.558000	0.71614	TCA		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2		NM_004406		43	146	0	0	0	0.007835	0	43	146		
EDRF1	26098	broad.mit.edu	37	10	127429114	127429114	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:127429114G>A	ENST00000356792.4	+	16	2296	c.2064G>A	c.(2062-2064)ctG>ctA	p.L688L	C10orf137_ENST00000337623.3_Silent_p.L654L	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		688					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L654L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACTTCAGCTGATTCTCAAGT	0.413																																						uc001liq.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|large_intestine(3)|lung(2)	10						c.(2062-2064)CTG>CTA		erythroid differentiation-related factor 1							117.0	109.0	112.0					10																	127429114		2203	4300	6503	SO:0001819	synonymous_variant	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127429114G>A																												ENST00000356792.4:c.2064G>A	10.37:g.127429114G>A						C10orf137_uc001lin.2_Silent_p.L654L|C10orf137_uc001lio.1_Silent_p.L654L|C10orf137_uc001lip.1_Silent_p.L392L|C10orf137_uc001lir.2_Silent_p.L182L|C10orf137_uc001lis.1_Silent_p.L14L	p.L688L	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			16	2357	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	688					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	c.2064G>A	CCDS55733.1																																																																																				0.413	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1				21	92	0	0	0	0.008871	0	21	92		
PIDD1	55367	broad.mit.edu	37	11	804358	804358	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:804358C>G	ENST00000347755.5	-	2	172	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Missense_Mutation_p.E11Q	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2												p.E11Q(1)									GCAGCTGCCTCCAGCTCTGGC	0.687																																						uc001lro.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(31-33)GAG>CAG		leucine rich repeat and death domain containing							20.0	22.0	21.0					11																	804358		2165	4238	6403	SO:0001583	missense	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:804358C>G																												ENST00000347755.5:c.31G>C	11.37:g.804358C>G	ENSP00000337797:p.Glu11Gln					LRDD_uc009yck.1_5'Flank|LRDD_uc001lrk.1_Missense_Mutation_p.E11Q|LRDD_uc001lrl.1_5'UTR|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_5'UTR|LRDD_uc001lrp.1_5'UTR	p.E11Q	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	173	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	11						Missense_Mutation	SNP	ENST00000347755.5	37	c.31G>C	CCDS7716.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267945	0.23136	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.43294	1.04;0.95	3.04	0.385	0.16249	.	1.236770	0.06307	N	0.701968	T	0.24699	0.0599	N	0.12182	0.205	0.09310	N	1	B;B	0.17268	0.012;0.021	B;B	0.10450	0.002;0.005	T	0.24693	-1.0153	10	0.42905	T	0.14	.	6.3892	0.21577	0.0:0.6033:0.2206:0.1761	.	11;11	Q9HB75;Q9HB75-2	PIDD_HUMAN;.	Q	11	ENSP00000416801:E11Q;ENSP00000337797:E11Q	ENSP00000337797:E11Q	E	-	1	0	PIDD	794358	0.000000	0.05858	0.022000	0.16811	0.735000	0.41995	-0.058000	0.11750	0.166000	0.19597	0.313000	0.20887	GAG		0.687	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1				8	22	0	0	0	0.001855	0	8	22		
IGF2	3481	broad.mit.edu	37	11	2154279	2154279	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:2154279G>C	ENST00000416167.2	-	4	1647	c.481C>G	c.(481-483)Cta>Gta	p.L161V	IGF2_ENST00000434045.2_Missense_Mutation_p.L217V|MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381406.4_Missense_Mutation_p.L164V|IGF2_ENST00000381389.1_Missense_Mutation_p.L161V|IGF2_ENST00000300632.5_Missense_Mutation_p.L161V|IGF2_ENST00000418738.2_Missense_Mutation_p.L161V|IGF2_ENST00000381395.1_Missense_Mutation_p.L161V|IGF2_ENST00000381392.1_Missense_Mutation_p.L164V			P01344	IGF2_HUMAN	insulin-like growth factor 2	161					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)	p.L161V(1)|p.L217V(1)		central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TGGGTGGGTAGAGCAATCAGG	0.692																																						uc009yde.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(1)	1						c.(481-483)CTA>GTA		insulin-like growth factor 2 isoform 1							52.0	60.0	57.0					11																	2154279		2202	4299	6501	SO:0001583	missense	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2154279G>C	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.481C>G	11.37:g.2154279G>C	ENSP00000414497:p.Leu161Val					IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.L161V|IGF2_uc009ydf.2_Missense_Mutation_p.L217V|IGF2_uc001lvh.2_Missense_Mutation_p.L161V|INS-IGF2_uc001lvi.2_RNA	p.L161V	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	4	584	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	161					B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	ENST00000416167.2	37	c.481C>G	CCDS7728.1	.	.	.	.	.	.	.	.	.	.	G	5.219	0.225855	0.09916	.	.	ENSG00000167244	ENST00000381395;ENST00000381406;ENST00000416167;ENST00000300632;ENST00000381319;ENST00000434045;ENST00000381392;ENST00000381389;ENST00000418738;ENST00000337883;ENST00000381379	T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	2.85	0.761	0.18448	Insulin-like growth factor II E-peptide, C-terminal (2);	0.094718	0.43747	N	0.000530	T	0.45216	0.1331	M	0.73598	2.24	0.80722	D	1	B;B	0.21071	0.051;0.006	B;B	0.17722	0.018;0.019	T	0.35822	-0.9773	10	0.59425	D	0.04	-17.023	3.1697	0.06548	0.3034:0.2574:0.4391:0.0	.	217;161	C9JAF2;P01344	.;IGF2_HUMAN	V	161;164;161;161;164;217;164;161;161;161;164	ENSP00000370802:L161V;ENSP00000370813:L164V;ENSP00000414497:L161V;ENSP00000300632:L161V;ENSP00000391826:L217V;ENSP00000370799:L164V;ENSP00000370796:L161V;ENSP00000402047:L161V;ENSP00000338297:L161V	ENSP00000300632:L161V	L	-	1	2	IGF2	2110855	0.137000	0.22531	0.000000	0.03702	0.029000	0.11900	0.234000	0.17930	0.070000	0.16634	0.462000	0.41574	CTA		0.692	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2		NM_000612		25	98	0	0	0	0.005443	0	25	98		
OR10A5	144124	broad.mit.edu	37	11	6867346	6867346	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:6867346C>G	ENST00000299454.4	+	1	464	c.433C>G	c.(433-435)Ctg>Gtg	p.L145V	OR10A5_ENST00000379831.2_Missense_Mutation_p.L149V			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	145					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L145V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACGGGCCAAACTGGCTGCTGC	0.527																																					Pancreas(44;21 1072 25662 28041 45559)	uc001met.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(433-435)CTG>GTG		olfactory receptor, family 10, subfamily A,							144.0	137.0	139.0					11																	6867346		2201	4296	6497	SO:0001583	missense	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867346C>G	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.433C>G	11.37:g.6867346C>G	ENSP00000299454:p.Leu145Val						p.L145V	NM_178168	NP_835462	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	433	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	145			Helical; Name=4; (Potential).		O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	37	c.433C>G	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	9.544	1.114146	0.20795	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.39229	1.09;1.09	3.58	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000350	T	0.56659	0.2000	M	0.83223	2.63	0.25992	N	0.982232	P	0.51791	0.948	P	0.57244	0.816	T	0.50767	-0.8789	10	0.87932	D	0	.	7.788	0.29103	0.0:0.7836:0.0:0.2164	.	145	Q9H207	O10A5_HUMAN	V	145;149	ENSP00000299454:L145V;ENSP00000369159:L149V	ENSP00000299454:L145V	L	+	1	2	OR10A5	6823922	0.000000	0.05858	0.755000	0.31263	0.131000	0.20780	0.161000	0.16481	0.491000	0.27793	-0.237000	0.12165	CTG		0.527	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1		NM_178168		34	174	0	0	0	0.01441	0	34	174		
NLRP10	338322	broad.mit.edu	37	11	7981789	7981789	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:7981789G>A	ENST00000328600.2	-	2	1531	c.1370C>T	c.(1369-1371)gCc>gTc	p.A457V		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	457	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.A457V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTCTTGATGGCAAGTCCCAA	0.493																																						uc001mfv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(1369-1371)GCC>GTC		NLR family, pyrin domain containing 10							105.0	116.0	112.0					11																	7981789		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7981789G>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1370C>T	11.37:g.7981789G>A	ENSP00000327763:p.Ala457Val						p.A457V	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1387	-			457			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1370C>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	4.928	0.172364	0.09391	.	.	ENSG00000182261	ENST00000328600	D	0.88896	-2.44	4.86	-0.307	0.12777	.	0.523565	0.16143	N	0.227610	T	0.70290	0.3207	N	0.08118	0	0.09310	N	1	B	0.21821	0.061	B	0.22753	0.041	T	0.57219	-0.7849	10	0.29301	T	0.29	.	0.9016	0.01275	0.153:0.2014:0.1721:0.4736	.	457	Q86W26	NAL10_HUMAN	V	457	ENSP00000327763:A457V	ENSP00000327763:A457V	A	-	2	0	NLRP10	7938365	0.000000	0.05858	0.017000	0.16124	0.001000	0.01503	-1.106000	0.03319	0.007000	0.14760	-0.262000	0.10625	GCC		0.493	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1		NM_176821		43	170	0	0	0	0.010771	0	43	170		
USP47	55031	broad.mit.edu	37	11	11942014	11942014	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:11942014G>A	ENST00000399455.2	+	11	1371	c.1251G>A	c.(1249-1251)atG>atA	p.M417I	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.M329I|USP47_ENST00000527733.1_Missense_Mutation_p.M397I	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	417	USP.				base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.M329I(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AACTAGATATGAGTACTTTTA	0.318																																						uc001mjq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1249-1251)ATG>ATA		ubiquitin specific protease 47							93.0	87.0	89.0					11																	11942014		1824	4070	5894	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11942014G>A	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.1251G>A	11.37:g.11942014G>A	ENSP00000382382:p.Met417Ile					USP47_uc001mjr.2_Missense_Mutation_p.M329I|USP47_uc001mjs.2_Missense_Mutation_p.M397I	p.M417I	NM_017944	NP_060414	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	11	2014	+			417					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.1251G>A		.	.	.	.	.	.	.	.	.	.	G	21.7	4.192123	0.78902	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455;ENST00000535588	T;T;T	0.05382	3.45;3.45;3.45	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.11665	0.0284	L	0.37507	1.11	0.80722	D	1	P;P	0.38020	0.615;0.56	P;B	0.45167	0.472;0.341	T	0.02498	-1.1150	10	0.62326	D	0.03	.	18.9869	0.92775	0.0:0.0:1.0:0.0	.	397;329	E9PM46;Q96K76-2	.;.	I	329;397;417;417	ENSP00000339957:M329I;ENSP00000433146:M397I;ENSP00000382382:M417I	ENSP00000339957:M329I	M	+	3	0	USP47	11898590	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.876000	0.87215	2.591000	0.87537	0.563000	0.77884	ATG		0.318	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2		NM_017944		32	86	0	0	0	0.013726	0	32	86		
ZNF408	79797	broad.mit.edu	37	11	46727044	46727044	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:46727044C>G	ENST00000311764.2	+	5	2024	c.1794C>G	c.(1792-1794)ctC>ctG	p.L598L		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	598					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.L598L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGCGCCACCTCAAATCTCACT	0.667																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	uc001nde.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1792-1794)CTC>CTG		zinc finger protein 408							25.0	27.0	26.0					11																	46727044		2200	4299	6499	SO:0001819	synonymous_variant	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46727044C>G	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1794C>G	11.37:g.46727044C>G						ZNF408_uc010rgw.1_Silent_p.L590L	p.L598L	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN			5	2024	+			598			C2H2-type 9.			Silent	SNP	ENST00000311764.2	37	c.1794C>G	CCDS7923.1																																																																																				0.667	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2		NM_024741		18	50	0	0	0	0.00499	0	18	50		
FNBP4	23360	broad.mit.edu	37	11	47752962	47752962	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:47752962C>G	ENST00000263773.5	-	12	1984	c.1972G>C	c.(1972-1974)Gat>Cat	p.D658H	FNBP4_ENST00000534003.1_5'Flank	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	658						nucleus (GO:0005634)		p.D658H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GAATTTGAATCAGTGCCAGTT	0.373																																						uc009ylv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1972-1974)GAT>CAT		formin binding protein 4							192.0	184.0	186.0					11																	47752962		1846	4096	5942	SO:0001583	missense	23360							g.chr11:47752962C>G	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1972G>C	11.37:g.47752962C>G	ENSP00000263773:p.Asp658His					FNBP4_uc001ngj.2_Missense_Mutation_p.D565H|FNBP4_uc001ngl.2_RNA	p.D658H	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			12	2125	-			658					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.1972G>C	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202738	0.58234	.	.	ENSG00000109920	ENST00000263773	T	0.11604	2.76	6.03	6.03	0.97812	.	0.363764	0.28187	N	0.016273	T	0.22126	0.0533	L	0.51422	1.61	0.51012	D	0.9999	D	0.55172	0.97	P	0.51487	0.671	T	0.00017	-1.2375	10	0.66056	D	0.02	-16.3864	19.3283	0.94273	0.0:1.0:0.0:0.0	.	658	Q8N3X1	FNBP4_HUMAN	H	658	ENSP00000263773:D658H	ENSP00000263773:D658H	D	-	1	0	FNBP4	47709538	0.998000	0.40836	0.997000	0.53966	0.995000	0.86356	2.666000	0.46799	2.861000	0.98227	0.655000	0.94253	GAT		0.373	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3				51	136	0	0	0	0.01441	0	51	136		
FNBP4	23360	broad.mit.edu	37	11	47753046	47753046	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:47753046C>T	ENST00000263773.5	-	12	1900	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K	FNBP4_ENST00000534003.1_5'Flank	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	630	Poly-Glu.					nucleus (GO:0005634)		p.E630K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCTTCCTCTTCACCATCTGGA	0.393																																						uc009ylv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1888-1890)GAA>AAA		formin binding protein 4							161.0	150.0	154.0					11																	47753046		1866	4115	5981	SO:0001583	missense	23360							g.chr11:47753046C>T	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1888G>A	11.37:g.47753046C>T	ENSP00000263773:p.Glu630Lys					FNBP4_uc001ngj.2_Missense_Mutation_p.E537K|FNBP4_uc001ngl.2_RNA	p.E630K	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			12	2041	-			630			Poly-Glu.		Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.1888G>A	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350766	0.82132	.	.	ENSG00000109920	ENST00000263773	T	0.11063	2.81	6.03	6.03	0.97812	WW/Rsp5/WWP (1);	0.051124	0.85682	D	0.000000	T	0.25531	0.0621	L	0.58101	1.795	0.49687	D	0.99981	D	0.63880	0.993	P	0.54629	0.757	T	0.00038	-1.2245	10	0.33141	T	0.24	-18.7066	20.5568	0.99304	0.0:1.0:0.0:0.0	.	630	Q8N3X1	FNBP4_HUMAN	K	630	ENSP00000263773:E630K	ENSP00000263773:E630K	E	-	1	0	FNBP4	47709622	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.932000	0.70121	2.861000	0.98227	0.655000	0.94253	GAA		0.393	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3				46	163	0	0	0	0.013114	0	46	163		
NUP160	23279	broad.mit.edu	37	11	47858484	47858484	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:47858484G>A	ENST00000378460.2	-	6	943	c.897C>T	c.(895-897)atC>atT	p.I299I	NUP160_ENST00000530326.1_Silent_p.I185I|NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000528071.1_Silent_p.I185I	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	299					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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.I299I(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ACAAAGCAAAGATGAAGGCAT	0.408																																						uc001ngm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(895-897)ATC>ATT		nucleoporin 160kDa							172.0	151.0	158.0					11																	47858484		2201	4298	6499	SO:0001819	synonymous_variant	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47858484G>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.897C>T	11.37:g.47858484G>A						NUP160_uc009ylw.2_RNA	p.I299I	NM_015231	NP_056046	Q12769	NU160_HUMAN			6	982	-			299					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	ENST00000378460.2	37	c.897C>T	CCDS31484.1																																																																																				0.408	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2		NM_015231		19	95	0	0	0	0.006122	0	19	95		
OR5L2	26338	broad.mit.edu	37	11	55594852	55594852	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:55594852C>T	ENST00000378397.1	+	1	158	c.158C>T	c.(157-159)tCt>tTt	p.S53F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S53F(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CAGGTCAGCTCTCGGCTCCAC	0.478										HNSCC(27;0.073)																												uc001nhy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(157-159)TCT>TTT		olfactory receptor, family 5, subfamily L,							289.0	258.0	268.0					11																	55594852		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594852C>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.158C>T	11.37:g.55594852C>T	ENSP00000367650:p.Ser53Phe	HNSCC(27;0.073)					p.S53F	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	158	+		all_epithelial(135;0.208)	53			Cytoplasmic (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.158C>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	3.323	-0.138243	0.06669	.	.	ENSG00000205030	ENST00000378397	T	0.01099	5.34	5.31	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.607513	0.14735	N	0.301537	T	0.02304	0.0071	M	0.83774	2.66	0.09310	N	1	B	0.23937	0.094	B	0.23716	0.048	T	0.31392	-0.9945	10	0.54805	T	0.06	-6.5285	6.5621	0.22491	0.1351:0.6625:0.1302:0.0722	.	53	Q8NGL0	OR5L2_HUMAN	F	53	ENSP00000367650:S53F	ENSP00000367650:S53F	S	+	2	0	OR5L2	55351428	0.000000	0.05858	0.168000	0.22838	0.003000	0.03518	-0.767000	0.04720	0.327000	0.23409	0.626000	0.83405	TCT		0.478	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1		NM_001004739		99	289	0	0	0	0.01441	0	99	289		
OR5AK2	390181	broad.mit.edu	37	11	56757051	56757051	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:56757051C>T	ENST00000326855.2	+	1	705	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I221I(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ACATCTACATCATGGCCACCA	0.438																																						uc010rjp.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)	3						c.(661-663)ATC>ATT		olfactory receptor, family 5, subfamily AK,							186.0	169.0	175.0					11																	56757051		2201	4296	6497	SO:0001819	synonymous_variant	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56757051C>T	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.663C>T	11.37:g.56757051C>T							p.I221I	NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN			1	663	+			221			Cytoplasmic (Potential).		B2RNZ9	Silent	SNP	ENST00000326855.2	37	c.663C>T	CCDS31538.1																																																																																				0.438	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1		NM_001005323		53	196	0	0	0	0.01441	0	53	196		
PRG2	5553	broad.mit.edu	37	11	57156683	57156683	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:57156683C>T	ENST00000311862.5	-	3	239	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	PRG2_ENST00000533605.1_Missense_Mutation_p.E56K|PRG2_ENST00000525955.1_Missense_Mutation_p.E56K|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.E161K	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	56					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)	p.E56K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)	Sargramostim(DB00020)	TCCTCCTCTTCCTCCAGCTCC	0.547																																						uc001njz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(166-168)GAA>AAA		proteoglycan 2 preproprotein	Sargramostim(DB00020)						97.0	98.0	97.0					11																	57156683		2201	4296	6497	SO:0001583	missense	5553				defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding	g.chr11:57156683C>T	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.166G>A	11.37:g.57156683C>T	ENSP00000312134:p.Glu56Lys					PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.E56K|PRG2_uc001nkb.2_Missense_Mutation_p.E56K|PRG2_uc001nkd.2_Missense_Mutation_p.E56K|PRG2_uc001nkc.2_Missense_Mutation_p.E56K|PRG2_uc001nke.2_Missense_Mutation_p.E336K	p.E56K	NM_002728	NP_002719	P13727	PRG2_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	193	-			56					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.166G>A	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375980	0.42105	.	.	ENSG00000186652;ENSG00000186652;ENSG00000186652;ENSG00000254979	ENST00000311862;ENST00000533605;ENST00000525955;ENST00000529411	T;T;T;T	0.33438	3.12;2.91;3.12;1.41	5.48	2.61	0.31194	.	1.698960	0.03681	N	0.245480	T	0.31009	0.0783	L	0.52573	1.65	0.09310	N	1	B;B	0.19445	0.036;0.036	B;B	0.15052	0.012;0.012	T	0.21930	-1.0231	10	0.36615	T	0.2	.	7.8153	0.29256	0.0:0.7382:0.0:0.2618	.	56;56	A6XMW0;P13727	.;PRG2_HUMAN	K	56;56;56;161	ENSP00000312134:E56K;ENSP00000433231:E56K;ENSP00000433016:E56K;ENSP00000431536:E161K	ENSP00000312134:E56K	E	-	1	0	RP11-872D17.8;PRG2	56913259	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.325000	0.07976	0.286000	0.22352	-0.150000	0.13652	GAA		0.547	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1		NM_002728		27	82	0	0	0	0.003954	0	27	82		
GLYATL1	92292	broad.mit.edu	37	11	58723268	58723268	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:58723268C>T	ENST00000317391.4	+	8	1017	c.677C>T	c.(676-678)tCt>tTt	p.S226F	RP11-142C4.6_ENST00000533954.1_RNA|RP11-142C4.6_ENST00000525714.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.S257F	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	226						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.S226F(1)|p.S257F(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ATGGACCCTTCTTGTGAAGTA	0.517																																						uc001nnf.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(676-678)TCT>TTT		SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	Glycine(DB00145)						60.0	56.0	57.0					11																	58723268		2201	4295	6496	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58723268C>T	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.677C>T	11.37:g.58723268C>T	ENSP00000322223:p.Ser226Phe					uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.S257F|GLYATL1_uc001nni.1_Missense_Mutation_p.S226F|GLYATL1_uc001nnj.1_Missense_Mutation_p.S226F	p.S226F			Q969I3	GLYL1_HUMAN			8	1053	+			226					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.677C>T	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	16.14	3.039329	0.55003	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.16196	2.36;2.36	2.77	2.77	0.32553	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	1.083410	0.07220	U	0.860728	T	0.27419	0.0673	L	0.43923	1.385	0.09310	N	1	D;D	0.59357	0.982;0.985	P;D	0.63703	0.865;0.917	T	0.16188	-1.0411	10	0.09590	T	0.72	.	8.7746	0.34753	0.0:1.0:0.0:0.0	.	257;226	Q969I3-2;Q969I3	.;GLYL1_HUMAN	F	203;226;257	ENSP00000322223:S226F;ENSP00000300079:S257F	ENSP00000300079:S257F	S	+	2	0	GLYATL1	58479844	0.001000	0.12720	0.001000	0.08648	0.382000	0.30200	0.888000	0.28268	1.365000	0.46057	0.411000	0.27672	TCT		0.517	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1		NM_080661		20	44	0	0	0	0.008871	0	20	44		
CCDC86	79080	broad.mit.edu	37	11	60610305	60610305	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:60610305G>A	ENST00000227520.5	+	1	762	c.708G>A	c.(706-708)ccG>ccA	p.P236P	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	236					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P236P(1)		endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CTGTAATCCCGAAGGGGAAGC	0.567																																						uc001nqa.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(706-708)CCG>CCA		coiled-coil domain containing 86							21.0	25.0	24.0					11																	60610305		2199	4299	6498	SO:0001819	synonymous_variant	79080				interspecies interaction between organisms	nucleus		g.chr11:60610305G>A	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.708G>A	11.37:g.60610305G>A						CCDC86_uc001nqb.2_5'UTR	p.P236P	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN			1	877	+			236					B4DY99	Silent	SNP	ENST00000227520.5	37	c.708G>A	CCDS7993.1																																																																																				0.567	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1		NM_024098		9	35	0	0	0	0.008291	0	9	35		
FADS3	3995	broad.mit.edu	37	11	61644427	61644427	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:61644427G>C	ENST00000278829.2	-	8	1046	c.894C>G	c.(892-894)ctC>ctG	p.L298L	FADS3_ENST00000540820.1_Silent_p.L298L|FADS3_ENST00000527697.1_Silent_p.L174L|FADS3_ENST00000525588.1_Silent_p.L270L	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	298					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)	p.L298L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGCGGCCCAGAGCAAATCCT	0.617																																						uc001nsm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(892-894)CTC>CTG		fatty acid desaturase 3							79.0	73.0	75.0					11																	61644427		2188	4295	6483	SO:0001819	synonymous_variant	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61644427G>C		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.894C>G	11.37:g.61644427G>C						FADS3_uc001nsn.2_Silent_p.L174L	p.L298L	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN			8	1047	-			298			Lumenal (Potential).		O60426	Silent	SNP	ENST00000278829.2	37	c.894C>G	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	.	9.818	1.185049	0.21870	.	.	ENSG00000221968	ENST00000527379	.	.	.	5.22	0.726	0.18248	.	.	.	.	.	T	0.46190	0.1380	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30880	-0.9963	4	.	.	.	-12.5609	4.522	0.11964	0.0835:0.2887:0.4884:0.1395	.	.	.	.	C	73	.	.	S	-	2	0	FADS3	61401003	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.387000	0.20718	0.542000	0.28846	0.549000	0.68633	TCT		0.617	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1				3	10	0	0	0	0.004672	0	3	10		
AHNAK	79026	broad.mit.edu	37	11	62288785	62288785	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:62288785G>C	ENST00000378024.4	-	5	13378	c.13104C>G	c.(13102-13104)ctC>ctG	p.L4368L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4368					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.L4368L(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGACCCTTGAGTTTTGCAT	0.468																																						uc001ntl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(13102-13104)CTC>CTG		AHNAK nucleoprotein isoform 1							134.0	138.0	136.0					11																	62288785		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62288785G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13104C>G	11.37:g.62288785G>C						AHNAK_uc001ntk.1_Intron	p.L4368L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	13404	-		Melanoma(852;0.155)	4368					A1A586	Silent	SNP	ENST00000378024.4	37	c.13104C>G	CCDS31584.1																																																																																				0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		55	202	0	0	0	0.01441	0	55	202		
B3GAT3	26229	broad.mit.edu	37	11	62384199	62384199	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:62384199G>C	ENST00000265471.5	-	4	915	c.688C>G	c.(688-690)Cag>Gag	p.Q230E	B3GAT3_ENST00000534026.1_Missense_Mutation_p.Q230E|B3GAT3_ENST00000531383.1_Missense_Mutation_p.Q230E	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	230					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)	p.Q230E(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						TCCTGTACCTGAGGGCCCTCG	0.647																																						uc001ntw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(688-690)CAG>GAG		beta-1,3-glucuronyltransferase 3							34.0	35.0	35.0					11																	62384199		2202	4299	6501	SO:0001583	missense	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62384199G>C	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.688C>G	11.37:g.62384199G>C	ENSP00000265471:p.Gln230Glu					B3GAT3_uc009ynz.2_Missense_Mutation_p.Q223E|B3GAT3_uc001ntx.2_RNA|B3GAT3_uc010rlz.1_Missense_Mutation_p.Q230E	p.Q230E	NM_012200	NP_036332	O94766	B3GA3_HUMAN			4	717	-			230			Lumenal (Potential).		B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	37	c.688C>G	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	g	7.495	0.651428	0.14516	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026	T;T;T	0.76060	-0.99;-0.99;-0.99	4.78	3.84	0.44239	.	0.524747	0.20531	N	0.090501	T	0.57417	0.2052	N	0.14661	0.345	0.28288	N	0.923699	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.52571	-0.8558	10	0.41790	T	0.15	.	11.9026	0.52692	0.0:0.0:0.8247:0.1753	.	230;236;230	B7ZAB3;Q5U676;O94766	.;.;B3GA3_HUMAN	E	230	ENSP00000265471:Q230E;ENSP00000431359:Q230E;ENSP00000432474:Q230E	ENSP00000265471:Q230E	Q	-	1	0	B3GAT3	62140775	0.002000	0.14202	0.999000	0.59377	0.992000	0.81027	0.919000	0.28692	1.194000	0.43101	0.556000	0.70494	CAG		0.647	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1		NM_012200		7	21	0	0	0	0.00308	0	7	21		
MAP4K2	5871	broad.mit.edu	37	11	64564578	64564578	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:64564578C>T	ENST00000294066.2	-	19	1454	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	MAP4K2_ENST00000377350.3_Missense_Mutation_p.E447K	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	455					activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E455K(2)		cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CCTCTTACCTCAGGATCCTCC	0.657																																						uc001obh.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|pancreas(1)	2						c.(1363-1365)GAG>AAG		mitogen-activated protein kinase kinase kinase							59.0	55.0	57.0					11																	64564578		2201	4297	6498	SO:0001583	missense	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64564578C>T	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1363G>A	11.37:g.64564578C>T	ENSP00000294066:p.Glu455Lys					MAP4K2_uc001obg.2_5'Flank|MAP4K2_uc001obi.2_Missense_Mutation_p.E447K	p.E455K	NM_004579	NP_004570	Q12851	M4K2_HUMAN			19	1455	-			455					Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	37	c.1363G>A	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878775	0.33162	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.69175	-0.38;-0.38	4.37	2.33	0.28932	.	0.760985	0.12711	N	0.445513	T	0.51550	0.1681	L	0.34521	1.04	0.25613	N	0.986484	B;B	0.34015	0.075;0.435	B;B	0.24701	0.027;0.055	T	0.36962	-0.9726	10	0.56958	D	0.05	.	10.6051	0.45390	0.0:0.6196:0.3803:0.0	.	447;455	Q86VU3;Q12851	.;M4K2_HUMAN	K	455;447	ENSP00000294066:E455K;ENSP00000366567:E447K	ENSP00000294066:E455K	E	-	1	0	MAP4K2	64321154	0.724000	0.28038	0.765000	0.31456	0.863000	0.49368	0.977000	0.29475	0.353000	0.24079	0.456000	0.33151	GAG		0.657	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1		NM_004579		9	62	0	0	0	0.008291	0	9	62		
FAM89B	23625	broad.mit.edu	37	11	65340999	65340999	+	Missense_Mutation	SNP	G	G	A	rs547806714		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65340999G>A	ENST00000530349.1	+	2	599	c.457G>A	c.(457-459)Gac>Aac	p.D153N	FAM89B_ENST00000316409.2_Missense_Mutation_p.D140N|FAM89B_ENST00000449319.2_3'UTR|EHBP1L1_ENST00000309295.4_5'Flank			Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	153					negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)	transcription corepressor binding (GO:0001222)	p.D140N(1)		large_intestine(1)|urinary_tract(2)	3						CCTGTCTGACGACGAGGAGCC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		15764	0.0		0.0	False		,,,				2504	0.001					uc001oem.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(418-420)GAC>AAC		family with sequence similarity 89, member B							72.0	62.0	66.0					11																	65340999		2201	4297	6498	SO:0001583	missense	23625							g.chr11:65340999G>A	AF052151	CCDS8105.1, CCDS44648.1, CCDS53662.1	11q23	2007-12-04				ENSG00000176973			16708	protein-coding gene	gene with protein product						9525630, 10512749	Standard	NM_152832		Approved		uc001oel.2	Q8N5H3		ENST00000530349.1:c.457G>A	11.37:g.65340999G>A	ENSP00000431459:p.Asp153Asn					FAM89B_uc001oen.2_3'UTR|FAM89B_uc001oel.2_Missense_Mutation_p.D153N|EHBP1L1_uc001oeo.3_5'Flank	p.D140N	NM_152832	NP_690045	Q8N5H3	FA89B_HUMAN			2	739	+			140					E9PB01|E9PL72|Q6PJ27	Missense_Mutation	SNP	ENST00000530349.1	37	c.418G>A	CCDS53662.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596478	0.86953	.	.	ENSG00000176973	ENST00000316409;ENST00000530349;ENST00000377088	.	.	.	4.78	4.78	0.61160	.	0.000000	0.37304	N	0.002151	T	0.59715	0.2214	L	0.29908	0.895	0.51767	D	0.999933	D;D	0.69078	0.997;0.997	P;P	0.57911	0.829;0.829	T	0.63134	-0.6705	9	0.66056	D	0.02	-12.0975	13.1962	0.59740	0.0:0.0:1.0:0.0	.	140;153	Q8N5H3;E9PL72	FA89B_HUMAN;.	N	140;153;126	.	ENSP00000314829:D140N	D	+	1	0	FAM89B	65097575	1.000000	0.71417	0.768000	0.31515	0.361000	0.29550	8.264000	0.89866	2.490000	0.84030	0.561000	0.74099	GAC		0.632	FAM89B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390095.1		NM_152832		18	49	0	0	0	0.012319	0	18	49		
FAM89B	23625	broad.mit.edu	37	11	65341111	65341111	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65341111G>A	ENST00000530349.1	+	2	711	c.569G>A	c.(568-570)tGa>tAa	p.*190*	FAM89B_ENST00000316409.2_Silent_p.*177*|FAM89B_ENST00000449319.2_3'UTR|EHBP1L1_ENST00000309295.4_5'Flank			Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	0					negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)	transcription corepressor binding (GO:0001222)	p.*177*(1)		large_intestine(1)|urinary_tract(2)	3						ATCAGCCTCTGAAGGGCTGGG	0.662																																						uc001oem.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(529-531)TGA>TAA		family with sequence similarity 89, member B							25.0	27.0	26.0					11																	65341111		2201	4295	6496	SO:0001819	synonymous_variant	23625							g.chr11:65341111G>A	AF052151	CCDS8105.1, CCDS44648.1, CCDS53662.1	11q23	2007-12-04				ENSG00000176973			16708	protein-coding gene	gene with protein product						9525630, 10512749	Standard	NM_152832		Approved		uc001oel.2	Q8N5H3		ENST00000530349.1:c.569G>A	11.37:g.65341111G>A						FAM89B_uc001oen.2_3'UTR|FAM89B_uc001oel.2_Silent_p.*190*|EHBP1L1_uc001oeo.3_5'Flank	p.*177*	NM_152832	NP_690045	Q8N5H3	FA89B_HUMAN			2	851	+			177					E9PB01|E9PL72|Q6PJ27	Silent	SNP	ENST00000530349.1	37	c.530G>A	CCDS53662.1																																																																																				0.662	FAM89B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390095.1		NM_152832		6	45	0	0	0	0.010729	0	6	45		
PACS1	55690	broad.mit.edu	37	11	65983668	65983668	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65983668G>C	ENST00000320580.4	+	5	772	c.739G>C	c.(739-741)Gaa>Caa	p.E247Q		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	247					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.E247Q(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GCCTGTGGCAGAAATAAAGAT	0.517																																						uc001oha.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)	6						c.(739-741)GAA>CAA		phosphofurin acidic cluster sorting protein 1							107.0	89.0	95.0					11																	65983668		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65983668G>C	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.739G>C	11.37:g.65983668G>C	ENSP00000316454:p.Glu247Gln					PACS1_uc001ogz.1_Missense_Mutation_p.E247Q	p.E247Q	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			5	873	+			247					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.739G>C	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471889	0.84533	.	.	ENSG00000175115	ENST00000320580;ENST00000527380	T	0.25912	1.77	5.41	5.41	0.78517	.	0.221955	0.47455	D	0.000235	T	0.50274	0.1606	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.991;0.997	T	0.28650	-1.0037	10	0.34782	T	0.22	-23.5477	18.1384	0.89630	0.0:0.0:1.0:0.0	.	247;247	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	Q	247;149	ENSP00000316454:E247Q	ENSP00000316454:E247Q	E	+	1	0	PACS1	65740244	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.317000	0.96327	2.826000	0.97356	0.561000	0.74099	GAA		0.517	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2		NM_018026		24	69	0	0	0	0.003954	0	24	69		
SPTBN2	6712	broad.mit.edu	37	11	66460711	66460711	+	Silent	SNP	C	C	T	rs146007976		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:66460711C>T	ENST00000533211.1	-	24	5131	c.4800G>A	c.(4798-4800)gcG>gcA	p.A1600A	SPTBN2_ENST00000309996.2_Silent_p.A1600A|SPTBN2_ENST00000529997.1_Silent_p.A1600A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1600					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.A1600A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCAGGCCTCCGCCTCGGCGG	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19755	0.0		0.0	False		,,,				2504	0.0					uc001ojd.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(4798-4800)GCG>GCA		spectrin, beta, non-erythrocytic 2		C		4,4396	8.1+/-20.4	0,4,2196	66.0	69.0	68.0		4800	-8.8	0.8	11	dbSNP_134	68	0,8590		0,0,4295	no	coding-synonymous	SPTBN2	NM_006946.2		0,4,6491	TT,TC,CC		0.0,0.0909,0.0308		1600/2391	66460711	4,12986	2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460711C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4800G>A	11.37:g.66460711C>T							p.A1600A	NM_006946	NP_008877	O15020	SPTN2_HUMAN			23	4872	-			1600			Spectrin 13.		O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.4800G>A	CCDS8150.1																																																																																				0.622	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2		NM_006946		34	101	0	0	0	0.013726	0	34	101		
CLCF1	23529	broad.mit.edu	37	11	67133035	67133035	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67133035G>C	ENST00000312438.7	-	3	447	c.250C>G	c.(250-252)Ctg>Gtg	p.L84V	RN7SKP239_ENST00000364814.1_RNA|AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000533438.1_Missense_Mutation_p.L74V|CLCF1_ENST00000528474.1_Missense_Mutation_p.L74V	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	84					B cell differentiation (GO:0030183)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)	CNTFR-CLCF1 complex (GO:0097059)|CRLF-CLCF1 complex (GO:0097058)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	ciliary neurotrophic factor receptor binding (GO:0005127)|cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)	p.L84V(1)		endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			GCCCTGGGCAGAGTCTCTGCC	0.587																																						uc001okq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(250-252)CTG>GTG		cardiotrophin-like cytokine factor 1 precursor							62.0	64.0	63.0					11																	67133035		2200	4295	6495	SO:0001583	missense	23529				B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr11:67133035G>C	BC012939	CCDS31617.1, CCDS53666.1	11q13.3	2014-01-28	2006-07-03		ENSG00000175505	ENSG00000175505			17412	protein-coding gene	gene with protein product	"""B-cell stimulating factor 3"", ""cold-induced sweating syndrome 2"", ""novel neurotrophin-1"""	607672	"""CRLF1 associated cytokine-like factor 1"""			10500198, 10448081, 16782820	Standard	NM_001166212		Approved	NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1	uc010rpp.2	Q9UBD9	OTTHUMG00000167669	ENST00000312438.7:c.250C>G	11.37:g.67133035G>C	ENSP00000309338:p.Leu84Val					LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Missense_Mutation_p.L74V	p.L84V	NM_013246	NP_037378	Q9UBD9	CLCF1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.39e-06)		3	446	-			84					B4DNT4|Q6NZA4	Missense_Mutation	SNP	ENST00000312438.7	37	c.250C>G	CCDS31617.1	.	.	.	.	.	.	.	.	.	.	g	11.65	1.702377	0.30232	.	.	ENSG00000175505	ENST00000312438;ENST00000533438;ENST00000528474	T;T;T	0.41400	1.0;1.0;1.0	4.99	4.04	0.47022	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.306961	0.26991	N	0.021473	T	0.33876	0.0878	L	0.43923	1.385	0.34588	D	0.715208	B	0.16802	0.019	B	0.18561	0.022	T	0.43782	-0.9370	10	0.87932	D	0	-26.7961	8.1503	0.31137	0.0:0.1984:0.5271:0.2745	.	84	Q9UBD9	CLCF1_HUMAN	V	84;74;74	ENSP00000309338:L84V;ENSP00000434122:L74V;ENSP00000432553:L74V	ENSP00000309338:L84V	L	-	1	2	CLCF1	66889611	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	2.180000	0.42537	1.175000	0.42826	0.556000	0.70494	CTG		0.587	CLCF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395478.1		NM_013246		33	112	0	0	0	0.013726	0	33	112		
PPP1CA	5499	broad.mit.edu	37	11	67166318	67166318	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67166318C>T	ENST00000376745.4	-	6	905	c.757G>A	c.(757-759)Gac>Aac	p.D253N	PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Missense_Mutation_p.D209N|PPP1CA_ENST00000312989.7_Missense_Mutation_p.D264N	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	253					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)	p.D264N(1)|p.D253N(1)|p.D350N(1)		breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TCGTAGCCGTCTTCTACCACC	0.627																																						uc001okw.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	breast(1)|pancreas(1)	2						c.(757-759)GAC>AAC		protein phosphatase 1, catalytic subunit, alpha							89.0	92.0	91.0					11																	67166318		2200	4295	6495	SO:0001583	missense	5499				cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	g.chr11:67166318C>T		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.757G>A	11.37:g.67166318C>T	ENSP00000365936:p.Asp253Asn					PPP1CA_uc009yro.1_Missense_Mutation_p.D71N|PPP1CA_uc001okt.1_Missense_Mutation_p.D258N|PPP1CA_uc001oku.1_Missense_Mutation_p.D264N|PPP1CA_uc001okv.1_Missense_Mutation_p.D209N|PPP1CA_uc001okx.1_Missense_Mutation_p.D341N|PPP1CA_uc001oky.2_Missense_Mutation_p.D253N	p.D253N	NM_002708	NP_002699	P62136	PP1A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		6	880	-			253					A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Missense_Mutation	SNP	ENST00000376745.4	37	c.757G>A	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970949	0.74246	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000358239;ENST00000527663	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.54	5.54	0.83059	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.000000	0.85682	D	0.000000	T	0.68044	0.2958	M	0.74258	2.255	0.80722	D	1	B;B;B;B;B;B	0.24675	0.047;0.047;0.003;0.109;0.001;0.042	B;B;B;B;B;B	0.31442	0.053;0.031;0.013;0.079;0.013;0.13	T	0.68296	-0.5446	10	0.72032	D	0.01	-15.2612	18.2601	0.90033	0.0:1.0:0.0:0.0	.	350;350;253;209;264;262	B3KXM2;E9PDP1;P62136;A6NNR3;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.;.	N	264;350;253;209;218	ENSP00000326031:D264N;ENSP00000365936:D253N;ENSP00000350974:D209N;ENSP00000431146:D218N	ENSP00000326031:D264N	D	-	1	0	PPP1CA	66922894	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	7.799000	0.85936	2.589000	0.87451	0.655000	0.94253	GAC		0.627	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1		NM_002708		33	84	0	0	0	0.00623	0	33	84		
PPP1CA	5499	broad.mit.edu	37	11	67166321	67166321	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67166321C>T	ENST00000376745.4	-	6	902	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Missense_Mutation_p.E208K|PPP1CA_ENST00000312989.7_Missense_Mutation_p.E263K	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	252					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)	p.E252K(1)|p.E263K(1)|p.E349K(1)		breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TAGCCGTCTTCTACCACCTGG	0.627																																						uc001okw.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	breast(1)|pancreas(1)	2						c.(754-756)GAA>AAA		protein phosphatase 1, catalytic subunit, alpha							88.0	91.0	90.0					11																	67166321		2200	4295	6495	SO:0001583	missense	5499				cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	g.chr11:67166321C>T		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.754G>A	11.37:g.67166321C>T	ENSP00000365936:p.Glu252Lys					PPP1CA_uc009yro.1_Missense_Mutation_p.E70K|PPP1CA_uc001okt.1_Missense_Mutation_p.E257K|PPP1CA_uc001oku.1_Missense_Mutation_p.E263K|PPP1CA_uc001okv.1_Missense_Mutation_p.E208K|PPP1CA_uc001okx.1_Missense_Mutation_p.E340K|PPP1CA_uc001oky.2_Missense_Mutation_p.E252K	p.E252K	NM_002708	NP_002699	P62136	PP1A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		6	877	-			252					A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Missense_Mutation	SNP	ENST00000376745.4	37	c.754G>A	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119794	0.94385	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000358239;ENST00000527663	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.4	5.4	0.78164	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.86178	2.8	0.80722	D	1	P;P;B;D;B;D	0.76494	0.917;0.917;0.394;0.999;0.101;0.986	P;P;B;P;B;P	0.57620	0.638;0.638;0.354;0.824;0.354;0.776	T	0.82987	-0.0184	10	0.87932	D	0	-15.396	17.9375	0.89017	0.0:1.0:0.0:0.0	.	349;349;252;208;263;261	B3KXM2;E9PDP1;P62136;A6NNR3;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.;.	K	263;349;252;208;217	ENSP00000326031:E263K;ENSP00000365936:E252K;ENSP00000350974:E208K;ENSP00000431146:E217K	ENSP00000326031:E263K	E	-	1	0	PPP1CA	66922897	1.000000	0.71417	0.991000	0.47740	0.673000	0.39480	7.799000	0.85936	2.508000	0.84585	0.655000	0.94253	GAA		0.627	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1		NM_002708		34	85	0	0	0	0.00623	0	34	85		
PPP1CA	5499	broad.mit.edu	37	11	67166578	67166578	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67166578C>T	ENST00000376745.4	-	5	728	c.580G>A	c.(580-582)Gat>Aat	p.D194N	PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Missense_Mutation_p.D150N|PPP1CA_ENST00000312989.7_Missense_Mutation_p.D205N	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	194					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)	p.D194N(1)|p.D205N(1)|p.D291N(1)		breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TCAGGCACATCTGTGGGCCGC	0.622																																						uc001okw.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	breast(1)|pancreas(1)	2						c.(580-582)GAT>AAT		protein phosphatase 1, catalytic subunit, alpha							55.0	57.0	56.0					11																	67166578		2200	4295	6495	SO:0001583	missense	5499				cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	g.chr11:67166578C>T		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.580G>A	11.37:g.67166578C>T	ENSP00000365936:p.Asp194Asn					PPP1CA_uc009yro.1_Missense_Mutation_p.D12N|PPP1CA_uc001okt.1_Missense_Mutation_p.D199N|PPP1CA_uc001oku.1_Missense_Mutation_p.D205N|PPP1CA_uc001okv.1_Missense_Mutation_p.D150N|PPP1CA_uc001okx.1_Missense_Mutation_p.D282N|PPP1CA_uc001oky.2_Missense_Mutation_p.D194N	p.D194N	NM_002708	NP_002699	P62136	PP1A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		5	703	-			194					A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Missense_Mutation	SNP	ENST00000376745.4	37	c.580G>A	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277356	0.80580	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000358239;ENST00000527663	T;T;T;D	0.84800	3.37;3.37;3.37;-1.9	5.7	5.7	0.88788	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.90082	3.085	0.80722	D	1	P;P;B;B;B;B	0.41929	0.765;0.765;0.265;0.426;0.022;0.041	B;B;B;B;B;B	0.44044	0.278;0.278;0.169;0.439;0.18;0.13	D	0.92025	0.5629	10	0.87932	D	0	-17.4882	18.6144	0.91297	0.0:1.0:0.0:0.0	.	291;291;194;150;205;203	B3KXM2;E9PDP1;P62136;A6NNR3;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.;.	N	205;291;194;150;159	ENSP00000326031:D205N;ENSP00000365936:D194N;ENSP00000350974:D150N;ENSP00000431146:D159N	ENSP00000326031:D205N	D	-	1	0	PPP1CA	66923154	1.000000	0.71417	0.381000	0.26106	0.231000	0.25187	7.751000	0.85126	2.679000	0.91253	0.655000	0.94253	GAT		0.622	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1		NM_002708		26	79	0	0	0	0.005443	0	26	79		
TBC1D10C	374403	broad.mit.edu	37	11	67172956	67172956	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67172956G>A	ENST00000542590.1	+	3	353	c.339G>A	c.(337-339)aaG>aaA	p.K113K	TBC1D10C_ENST00000526387.1_Silent_p.K113K|TBC1D10C_ENST00000312390.5_Silent_p.K113K			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	113	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.K113K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGTGCCAGAAGAACAGCCCTG	0.647																																						uc001ola.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(337-339)AAG>AAA		TBC1 domain family, member 10C							47.0	45.0	46.0					11																	67172956		2200	4295	6495	SO:0001819	synonymous_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67172956G>A	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.339G>A	11.37:g.67172956G>A						PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_Silent_p.K113K|TBC1D10C_uc001olb.2_RNA	p.K113K	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		4	368	+			113			Rab-GAP TBC.		G3V1D6	Silent	SNP	ENST00000542590.1	37	c.339G>A	CCDS8162.1																																																																																				0.647	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2		NM_198517		17	53	0	0	0	0.006122	0	17	53		
ALDH3B1	221	broad.mit.edu	37	11	67787235	67787235	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67787235G>C	ENST00000539229.1	+	7	645	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	ALDH3B1_ENST00000007633.8_Missense_Mutation_p.E177Q|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.E141Q|ALDH3B1_ENST00000316367.6_Missense_Mutation_p.E177Q|ALDH3B1_ENST00000434449.1_3'UTR	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	178					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										GCAGCTGCTAGAGCACAGGTT	0.652																																						uc010rpy.1		NaN																	0					0						c.(532-534)GAG>CAG		aldehyde dehydrogenase 3B1 isoform a	NADH(DB00157)						98.0	112.0	107.0					11																	67787235		2200	4294	6494	SO:0001583	missense	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67787235G>C	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.529G>C	11.37:g.67787235G>C	ENSP00000474034:p.Glu177Gln					ALDH3B1_uc001omz.2_Missense_Mutation_p.E178Q|ALDH3B1_uc001ona.2_Missense_Mutation_p.E141Q|ALDH3B1_uc001onb.2_RNA	p.E178Q	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN			7	648	+			178					A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	ENST00000539229.1	37	c.532G>C																																																																																					0.652	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_000694		25	100	0	0	0	0.010818	0	25	100		
FADD	8772	broad.mit.edu	37	11	70049613	70049613	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:70049613G>A	ENST00000301838.4	+	1	345	c.48G>A	c.(46-48)tcG>tcA	p.S16S	RP11-805J14.5_ENST00000526174.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	16	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|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)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.S16S(1)		endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCAGCCTGTCGAGCAGCGAGC	0.697																																						uc001opm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(46-48)TCG>TCA		Fas-associated via death domain							13.0	12.0	12.0					11																	70049613		2184	4256	6440	SO:0001819	synonymous_variant	8772				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding	g.chr11:70049613G>A	U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"""Fas-associating protein with death domain"", ""Fas-associating death domain-containing protein"", ""mediator of receptor-induced toxicity"", ""growth-inhibiting gene 3 protein"""	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.48G>A	11.37:g.70049613G>A							p.S16S	NM_003824	NP_003815	Q13158	FADD_HUMAN	LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		1	345	+	Esophageal squamous(2;1.19e-45)		16			DED.		Q14866|Q6IBR4	Silent	SNP	ENST00000301838.4	37	c.48G>A	CCDS8196.1																																																																																				0.697	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393902.1		NM_003824		4	14	0	0	0	0.009096	0	4	14		
FADD	8772	broad.mit.edu	37	11	70049620	70049620	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:70049620G>A	ENST00000301838.4	+	1	352	c.55G>A	c.(55-57)Gag>Aag	p.E19K	RP11-805J14.5_ENST00000526174.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	19	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|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)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.E19K(1)		endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTCGAGCAGCGAGCTGACCGA	0.692																																						uc001opm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(55-57)GAG>AAG		Fas-associated via death domain							13.0	13.0	13.0					11																	70049620		2185	4261	6446	SO:0001583	missense	8772				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding	g.chr11:70049620G>A	U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"""Fas-associating protein with death domain"", ""Fas-associating death domain-containing protein"", ""mediator of receptor-induced toxicity"", ""growth-inhibiting gene 3 protein"""	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.55G>A	11.37:g.70049620G>A	ENSP00000301838:p.Glu19Lys						p.E19K	NM_003824	NP_003815	Q13158	FADD_HUMAN	LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		1	352	+	Esophageal squamous(2;1.19e-45)		19			DED.		Q14866|Q6IBR4	Missense_Mutation	SNP	ENST00000301838.4	37	c.55G>A	CCDS8196.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107369	0.77096	.	.	ENSG00000168040	ENST00000301838	D	0.86030	-2.06	4.39	4.39	0.52855	DEATH-like (2);Death effector (3);	0.399782	0.27366	N	0.019700	D	0.92208	0.7529	M	0.86502	2.82	0.23731	N	0.996994	D	0.89917	1.0	D	0.64237	0.923	D	0.86244	0.1645	10	0.66056	D	0.02	-14.7917	14.7887	0.69824	0.0:0.0:1.0:0.0	.	19	Q13158	FADD_HUMAN	K	19	ENSP00000301838:E19K	ENSP00000301838:E19K	E	+	1	0	FADD	69727268	0.999000	0.42202	0.077000	0.20336	0.983000	0.72400	3.731000	0.55013	2.158000	0.67659	0.491000	0.48974	GAG		0.692	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393902.1		NM_003824		5	15	0	0	0	0.000602	0	5	15		
DDIAS	220042	broad.mit.edu	37	11	82643575	82643575	+	Missense_Mutation	SNP	G	G	C	rs149497860		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:82643575G>C	ENST00000533655.1	+	6	1407	c.1195G>C	c.(1195-1197)Gaa>Caa	p.E399Q	C11orf82_ENST00000430323.2_Missense_Mutation_p.E399Q|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Missense_Mutation_p.E98Q	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		399					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E399Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACTCAGACTTGAAGAGACAGC	0.468																																						uc001ozt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1195-1197)GAA>CAA		nitric oxide-inducible gene protein							168.0	173.0	171.0					11																	82643575		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82643575G>C																												ENST00000533655.1:c.1195G>C	11.37:g.82643575G>C	ENSP00000435421:p.Glu399Gln					C11orf82_uc010rsr.1_Missense_Mutation_p.E98Q|C11orf82_uc010rss.1_Missense_Mutation_p.E98Q|C11orf82_uc009yvd.2_Intron	p.E399Q	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	1439	+			399					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.1195G>C	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533860	0.27387	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.43688	0.94;0.94;0.94	6.04	5.13	0.70059	.	0.464362	0.22392	N	0.060677	T	0.49813	0.1579	M	0.66939	2.045	0.09310	N	1	D	0.61080	0.989	P	0.52031	0.688	T	0.50039	-0.8874	9	.	.	.	.	9.5641	0.39387	0.074:0.1434:0.7826:0.0	.	399	Q8IXT1	NOXIN_HUMAN	Q	399;399;98	ENSP00000414687:E399Q;ENSP00000435421:E399Q;ENSP00000329930:E98Q	.	E	+	1	0	C11orf82	82321223	0.000000	0.05858	0.042000	0.18584	0.010000	0.07245	0.102000	0.15272	2.873000	0.98535	0.563000	0.77884	GAA		0.468	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1				70	221	0	0	0	0.01441	0	70	221		
ME3	10873	broad.mit.edu	37	11	86160971	86160971	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:86160971C>T	ENST00000393324.3	-	9	1344	c.1091G>A	c.(1090-1092)aGa>aAa	p.R364K	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Missense_Mutation_p.R364K|ME3_ENST00000359636.2_Missense_Mutation_p.R364K	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	364					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.R364K(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				CCAGATCTTTCTTGTGGCCTC	0.522																																						uc001pbz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1090-1092)AGA>AAA		mitochondrial malic enzyme 3 precursor	NADH(DB00157)						180.0	168.0	172.0					11																	86160971		2202	4299	6501	SO:0001583	missense	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86160971C>T	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1091G>A	11.37:g.86160971C>T	ENSP00000376998:p.Arg364Lys					ME3_uc001pca.2_Missense_Mutation_p.R364K|ME3_uc009yvk.2_Missense_Mutation_p.R364K|ME3_uc010rtr.1_RNA	p.R364K	NM_001014811	NP_001014811	Q16798	MAON_HUMAN			9	1345	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	364					B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	c.1091G>A	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	C	2.216	-0.379652	0.05000	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.7	-2.07	0.07276	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.639960	0.16562	N	0.209017	T	0.13372	0.0324	N	0.01202	-0.96	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.32877	-0.9890	9	.	.	.	.	11.9052	0.52708	0.0:0.3173:0.0:0.6827	.	364	Q16798	MAON_HUMAN	K	364	ENSP00000352657:R364K;ENSP00000440246:R364K;ENSP00000376998:R364K;ENSP00000431182:R364K	.	R	-	2	0	ME3	85838619	0.689000	0.27690	0.060000	0.19600	0.647000	0.38526	0.020000	0.13466	-0.245000	0.09625	0.650000	0.86243	AGA		0.522	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2				48	145	0	0	0	0.01441	0	48	145		
PIWIL4	143689	broad.mit.edu	37	11	94335120	94335120	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:94335120G>A	ENST00000299001.6	+	12	1751	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	514					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)	p.G514R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGTTCCATGGGATTTAATGT	0.378																																						uc001pfa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1540-1542)GGA>AGA		piwi-like 4							112.0	109.0	110.0					11																	94335120		2201	4298	6499	SO:0001583	missense	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94335120G>A	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1540G>A	11.37:g.94335120G>A	ENSP00000299001:p.Gly514Arg					PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	p.G514R	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN			12	1751	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	514					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	c.1540G>A	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720507	0.68959	.	.	ENSG00000134627	ENST00000299001	T	0.07800	3.16	5.15	4.24	0.50183	Ribonuclease H-like (1);	0.090364	0.46442	N	0.000287	T	0.31231	0.0790	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.11446	-1.0587	10	0.59425	D	0.04	-22.4574	12.6177	0.56586	0.0812:0.0:0.9188:0.0	.	514	Q7Z3Z4	PIWL4_HUMAN	R	514	ENSP00000299001:G514R	ENSP00000299001:G514R	G	+	1	0	PIWIL4	93974768	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.801000	0.69115	1.412000	0.46977	0.585000	0.79938	GGA		0.378	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1		NM_152431		28	119	0	0	0	0.00632	0	28	119		
YAP1	10413	broad.mit.edu	37	11	102100669	102100669	+	Nonstop_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:102100669T>C	ENST00000282441.5	+	9	1901	c.1513T>C	c.(1513-1515)Tag>Cag	p.*505Q	YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000345877.2_Nonstop_Mutation_p.*455Q|YAP1_ENST00000524575.1_Nonstop_Mutation_p.*327Q|RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000531439.1_Nonstop_Mutation_p.*489Q|YAP1_ENST00000526343.1_Nonstop_Mutation_p.*451Q|YAP1_ENST00000537274.1_Nonstop_Mutation_p.*493Q	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	0					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.*505Q(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TACATGGTTATAGAGCCCTCA	0.433																																					Colon(50;247 1103 7861 28956)	uc001pgt.2		NaN																	1	Nonstop extension(1)		urinary_tract(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1513-1515)TAG>CAG		Yes-associated protein 1, 65kDa isoform 1							90.0	96.0	94.0					11																	102100669		2203	4299	6502	SO:0001578	stop_lost	10413				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:102100669T>C		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.1513T>C	11.37:g.102100669T>C	ENSP00000282441:p.*505Glnext*6					YAP1_uc001pgs.2_Nonstop_Mutation_p.*455Q|YAP1_uc001pgu.2_Nonstop_Mutation_p.*489Q|YAP1_uc001pgv.2_Nonstop_Mutation_p.*451Q|YAP1_uc010ruo.1_Nonstop_Mutation_p.*327Q|YAP1_uc001pgw.2_Nonstop_Mutation_p.*329Q|YAP1_uc010rup.1_Nonstop_Mutation_p.*270Q	p.*505Q	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	9	1883	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	505					B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Nonstop_Mutation	SNP	ENST00000282441.5	37	c.1513T>C	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288740	0.80914	.	.	ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	Q	451;505;493;455;422;489;327	.	.	X	+	1	0	YAP1	101605879	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.635000	0.83286	2.371000	0.80710	0.533000	0.62120	TAG		0.433	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1		NM_006106		53	116	0	0	0	0.01441	0	53	116		
GRIA4	2893	broad.mit.edu	37	11	105789548	105789548	+	Missense_Mutation	SNP	C	C	G	rs145685023		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:105789548C>G	ENST00000530497.1	+	10	1380	c.1380C>G	c.(1378-1380)atC>atG	p.I460M	GRIA4_ENST00000525187.1_Missense_Mutation_p.I460M|GRIA4_ENST00000282499.5_Missense_Mutation_p.I460M|GRIA4_ENST00000393127.2_Missense_Mutation_p.I460M			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	460					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	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)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	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.I460M(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATATTGGTATCAAGTATAAAA	0.353																																						uc001pix.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(1378-1380)ATC>ATG		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						99.0	94.0	96.0					11																	105789548		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105789548C>G	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1380C>G	11.37:g.105789548C>G	ENSP00000435775:p.Ile460Met					GRIA4_uc001piw.2_Missense_Mutation_p.I460M	p.I460M	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	11	1826	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	460			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1380C>G	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265061	0.59431	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.68	5.68	0.88126	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000001	D	0.86431	0.5931	M	0.81497	2.545	0.58432	D	0.999994	P;P	0.43633	0.708;0.813	P;P	0.55455	0.629;0.776	D	0.87421	0.2382	10	0.87932	D	0	.	14.942	0.71000	0.1429:0.8571:0.0:0.0	.	460;460	P48058;G3V164	GRIA4_HUMAN;.	M	460	ENSP00000282499:I460M;ENSP00000376835:I460M;ENSP00000435775:I460M;ENSP00000432180:I460M	ENSP00000282499:I460M	I	+	3	3	GRIA4	105294758	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.983000	0.40648	2.835000	0.97688	0.650000	0.86243	ATC		0.353	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1				20	53	0	0	0	0.007413	0	20	53		
ATM	472	broad.mit.edu	37	11	108160459	108160459	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:108160459G>A	ENST00000452508.2	+	30	4556	c.4367G>A	c.(4366-4368)gGc>gAc	p.G1456D	ATM_ENST00000278616.4_Missense_Mutation_p.G1456D			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1456					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.G1456D(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATAAAAAGTGGCTTAGGAGGA	0.313			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		2	Substitution - Missense(2)		urinary_tract(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(4366-4368)GGC>GAC	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							72.0	74.0	73.0					11																	108160459		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108160459G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4367G>A	11.37:g.108160459G>A	ENSP00000388058:p.Gly1456Asp	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.G1456D|ATM_uc001pkd.3_Missense_Mutation_p.G108D|ATM_uc001pke.1_Missense_Mutation_p.G108D|ATM_uc010rvw.1_Missense_Mutation_p.G108D|ATM_uc001pkf.2_Missense_Mutation_p.G108D	p.G1456D	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	29	4752	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1456					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.4367G>A	CCDS31669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.73|19.73	3.881395|3.881395	0.72294|0.72294	.|.	.|.	ENSG00000149311|ENSG00000149311	ENST00000531525|ENST00000278616;ENST00000452508;ENST00000389511	.|T;T	.|0.73897	.|-0.79;-0.79	5.56|5.56	4.65|4.65	0.58169|0.58169	.|Armadillo-type fold (1);	.|0.091389	.|0.85682	.|D	.|0.000000	T|T	0.77525|0.77525	0.4143|0.4143	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999992|0.999992	.|P;P	.|0.50369	.|0.934;0.912	.|P;P	.|0.50490	.|0.642;0.642	T|T	0.74833|0.74833	-0.3530|-0.3530	5|10	.|0.18710	.|T	.|0.47	.|.	16.604|16.604	0.84823|0.84823	0.0:0.1376:0.8624:0.0|0.0:0.1376:0.8624:0.0	.|.	.|108;1456	.|E7EV38;Q13315	.|.;ATM_HUMAN	T|D	126|1456;1456;108	.|ENSP00000278616:G1456D;ENSP00000388058:G1456D	.|ENSP00000278616:G1456D	A|G	+|+	1|2	0|0	ATM|ATM	107665669|107665669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.294000|6.294000	0.72738|0.72738	1.473000|1.473000	0.48159|0.48159	0.650000|0.650000	0.86243|0.86243	GCT|GGC		0.313	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		16	62	0	0	0	0.004007	0	16	62		
PPP2R1B	5519	broad.mit.edu	37	11	111636995	111636995	+	Missense_Mutation	SNP	C	C	T	rs199554698		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:111636995C>T	ENST00000527614.1	-	1	156	c.91G>A	c.(91-93)Gag>Aag	p.E31K	RP11-108O10.2_ENST00000529841.1_lincRNA|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.E31K|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.E31K|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.E31K|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.E31K|PPP2R1B_ENST00000427203.2_5'UTR	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	31					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)		p.E31K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TTGCGGAGCTCGTCGATTAAA	0.637																																						uc001plx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(91-93)GAG>AAG		beta isoform of regulatory subunit A, protein		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4402		0,0,2201	89.0	84.0	86.0		91,91,91,91,91	5.4	1.0	11		86	2,8592	2.2+/-6.3	0,2,4295	yes	missense,missense,missense,missense,missense	PPP2R1B	NM_001177562.1,NM_001177563.1,NM_002716.4,NM_181699.2,NM_181700.1	56,56,56,56,56	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	31/557,31/475,31/602,31/668,31/604	111636995	2,12994	2201	4297	6498	SO:0001583	missense	5519						protein binding	g.chr11:111636995C>T	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.91G>A	11.37:g.111636995C>T	ENSP00000437193:p.Glu31Lys					PPP2R1B_uc001plw.1_Missense_Mutation_p.E31K|PPP2R1B_uc010rwi.1_Missense_Mutation_p.E31K|PPP2R1B_uc010rwj.1_5'UTR|PPP2R1B_uc010rwk.1_Missense_Mutation_p.E31K|PPP2R1B_uc010rwl.1_Missense_Mutation_p.E31K	p.E31K	NM_002716	NP_002707	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	1	175	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	31			HEAT 1.		A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.91G>A	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	C	37	6.261471	0.97421	0.0	2.33E-4	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000341980;ENST00000393055	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	H	0.96269	3.795	0.80722	D	1	D;D;D;D;D	0.67145	0.996;0.987;0.995;0.99;0.992	P;P;P;P;P	0.60117	0.781;0.815;0.781;0.778;0.869	T	0.78349	-0.2238	10	0.87932	D	0	-13.9578	16.6024	0.84819	0.0:1.0:0.0:0.0	.	31;31;31;31;31	A8MY67;F8W8G1;B4DWW5;P30154;P30154-2	.;.;.;2AAB_HUMAN;.	K	31	ENSP00000311344:E31K;ENSP00000410671:E31K;ENSP00000437193:E31K;ENSP00000343317:E31K;ENSP00000376775:E31K	ENSP00000311344:E31K	E	-	1	0	PPP2R1B	111142205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.378000	0.73150	2.511000	0.84671	0.650000	0.86243	GAG		0.637	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1		NM_002716		14	69	0	0	0	0.00245	0	14	69		
USP28	57646	broad.mit.edu	37	11	113697974	113697974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:113697974G>A	ENST00000003302.4	-	11	1236	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*	USP28_ENST00000260188.5_Nonsense_Mutation_p.Q390*|USP28_ENST00000545540.1_Nonsense_Mutation_p.Q265*|USP28_ENST00000537706.1_Nonsense_Mutation_p.Q390*|USP28_ENST00000544967.1_Nonsense_Mutation_p.Q98*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	390	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q390*(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TAAATAATCTGAGGAAATTCC	0.398																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(1168-1170)CAG>TAG		ubiquitin specific protease 28							81.0	84.0	83.0					11																	113697974		2201	4296	6497	SO:0001587	stop_gained	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113697974G>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1168C>T	11.37:g.113697974G>A	ENSP00000003302:p.Gln390*					USP28_uc001pog.2_Nonsense_Mutation_p.Q98*|USP28_uc010rwy.1_Nonsense_Mutation_p.Q265*|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Nonsense_Mutation_p.Q390*	p.Q390*	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	11	1201	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	390					B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	ENST00000003302.4	37	c.1168C>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	39	7.494883	0.98319	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706	.	.	.	5.06	5.06	0.68205	.	0.161453	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-17.0618	14.5865	0.68328	0.0:0.1457:0.8543:0.0	.	.	.	.	X	390;390;98;265;154;390	.	ENSP00000003302:Q390X	Q	-	1	0	USP28	113203184	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.005000	0.63972	2.797000	0.96272	0.563000	0.77884	CAG		0.398	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1				14	70	0	0	0	0.00245	0	14	70		
KMT2A	4297	broad.mit.edu	37	11	118361911	118361911	+	Splice_Site	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:118361911G>A	ENST00000389506.5	+	14	4697	c.4697G>A	c.(4696-4698)gGa>gAa	p.G1566E	KMT2A_ENST00000534358.1_Splice_Site_p.G1566E|KMT2A_ENST00000354520.4_Splice_Site_p.G1528E			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1566					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.G1566E(2)									TTGCTTTCAGGAAACTTCTGC	0.418																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - Missense(2)		urinary_tract(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(4696-4698)GGA>GAA		myeloid/lymphoid or mixed-lineage leukemia							165.0	153.0	157.0					11																	118361911		2200	4296	6496	SO:0001630	splice_region_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118361911G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4697-1G>A	11.37:g.118361911G>A						MLL_uc001ptb.2_Missense_Mutation_p.G1566E|MLL_uc001pte.1_RNA	p.G1566E	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	14	4720	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1566			PHD-type 3.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.4697G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212558	0.79240	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	D;D;D;D	0.91295	-1.81;-1.8;-1.75;-2.82	5.52	5.52	0.82312	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.059459	0.64402	D	0.000002	D	0.93671	0.7978	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.976	D	0.92564	0.6060	9	.	.	.	.	19.4584	0.94904	0.0:0.0:1.0:0.0	.	1566;1566	E9PQG7;Q03164	.;MLL1_HUMAN	E	1566;1566;1528;476;278	ENSP00000436786:G1566E;ENSP00000374157:G1566E;ENSP00000346516:G1528E;ENSP00000376612:G278E	.	G	+	2	0	MLL	117867121	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.581000	0.87130	0.655000	0.94253	GGA		0.418	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933	Missense_Mutation	13	69	0	0	0	0.013537	0	13	69		
OR8B8	26493	broad.mit.edu	37	11	124310898	124310898	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:124310898G>A	ENST00000328064.2	-	1	156	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	28					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F28F(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAAACAGGAAGAAGAGGGGGA	0.502																																						uc010sal.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|large_intestine(1)	ovary(1)	1						c.(82-84)TTC>TTT		olfactory receptor, family 8, subfamily B,							71.0	71.0	71.0					11																	124310898		2201	4299	6500	SO:0001819	synonymous_variant	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310898G>A	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.84C>T	11.37:g.124310898G>A							p.F28F	NM_012378	NP_036510	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	84	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	28			Helical; Name=1; (Potential).		A1L446|Q96RC8	Silent	SNP	ENST00000328064.2	37	c.84C>T	CCDS8446.1																																																																																				0.502	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1		NM_012378		13	77	0	0	0	0.001855	0	13	77		
PANX3	116337	broad.mit.edu	37	11	124482954	124482954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:124482954C>A	ENST00000284288.2	+	2	327	c.260C>A	c.(259-261)tCa>tAa	p.S87*		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	87					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)	p.S87*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGCTGGGACTCACTGCTTCAC	0.557																																						uc001qah.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(259-261)TCA>TAA		pannexin 3							74.0	68.0	70.0					11																	124482954		2201	4299	6500	SO:0001587	stop_gained	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124482954C>A	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.260C>A	11.37:g.124482954C>A	ENSP00000284288:p.Ser87*						p.S87*	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	2	260	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	87			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000284288.2	37	c.260C>A	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	C	37	6.416144	0.97550	.	.	ENSG00000154143	ENST00000284288	.	.	.	5.51	4.6	0.57074	.	0.131736	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0672	13.9866	0.64339	0.0:0.9272:0.0:0.0728	.	.	.	.	X	87	.	ENSP00000284288:S87X	S	+	2	0	PANX3	123988164	1.000000	0.71417	0.824000	0.32777	0.963000	0.63663	6.665000	0.74442	1.568000	0.49683	0.561000	0.74099	TCA		0.557	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1				18	70	1	0	1.56452e-12	0.007413	1.61141e-12	18	70		
FOXRED1	55572	broad.mit.edu	37	11	126139117	126139117	+	Silent	SNP	C	C	T	rs202093490		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:126139117C>T	ENST00000263578.5	+	1	90	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	SRPR_ENST00000332118.6_5'Flank|FOXRED1_ENST00000442061.2_5'UTR|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_5'UTR|SRPR_ENST00000532259.1_5'Flank|SRPR_ENST00000530680.1_5'Flank	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	6						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)	p.L6L(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TCGGAGGGTTCTGCCGCACGG	0.617																																						uc001qdi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(16-18)CTG>TTG		FAD-dependent oxidoreductase domain containing							55.0	59.0	57.0					11																	126139117		2201	4298	6499	SO:0001819	synonymous_variant	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126139117C>T		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.16C>T	11.37:g.126139117C>T						SRPR_uc001qdh.2_5'Flank|SRPR_uc010sbm.1_5'Flank|FOXRED1_uc010sbn.1_5'UTR|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_5'UTR|FOXRED1_uc010sbq.1_5'UTR|FOXRED1_uc001qdj.2_5'UTR|FOXRED1_uc010sbr.1_5'UTR|FOXRED1_uc001qdk.2_5'Flank	p.L6L	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	1	63	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	6					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Silent	SNP	ENST00000263578.5	37	c.16C>T	CCDS8471.1																																																																																				0.617	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1		NM_017547		18	65	0	0	0	0.008871	0	18	65		
KCNJ5	3762	broad.mit.edu	37	11	128781855	128781855	+	Silent	SNP	C	C	T	rs149327599		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:128781855C>T	ENST00000338350.4	+	3	1039	c.687C>T	c.(685-687)atC>atT	p.I229I	KCNJ5_ENST00000533599.1_Silent_p.I229I|KCNJ5_ENST00000529694.1_Silent_p.I229I			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	229					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.I229I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	ACTCCCACATCGTGGAGGCCT	0.592																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(685-687)ATC>ATT		potassium inwardly-rectifying channel J5	Glibenclamide(DB01016)	C		0,4402		0,0,2201	84.0	87.0	86.0		687	-0.7	1.0	11	dbSNP_134	86	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	KCNJ5	NM_000890.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		229/420	128781855	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781855C>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.687C>T	11.37:g.128781855C>T						KCNJ5_uc009zck.2_Silent_p.I229I|KCNJ5_uc001qew.2_Silent_p.I229I	p.I229I	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1001	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	229			Cytoplasmic (By similarity).		B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.687C>T	CCDS8479.1																																																																																				0.592	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1		NM_000890		38	119	0	0	0	0.00623	0	38	119		
NCAPD3	23310	broad.mit.edu	37	11	134064592	134064592	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:134064592C>T	ENST00000534548.2	-	14	1721	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	553					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.E553K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTGGTCTTCTCATCCCTGATC	0.418																																						uc001qhd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(1657-1659)GAG>AAG		non-SMC condensin II complex, subunit D3							165.0	145.0	152.0					11																	134064592		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134064592C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1657G>A	11.37:g.134064592C>T	ENSP00000433681:p.Glu553Lys					NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	p.E553K	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	14	2263	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	553			HEAT 2.		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.1657G>A	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584702	0.86748	.	.	ENSG00000151503	ENST00000534548	D	0.89050	-2.46	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.182292	0.48767	D	0.000176	D	0.93993	0.8076	M	0.80422	2.495	0.80722	D	1	D	0.67145	0.996	P	0.62649	0.905	D	0.92373	0.5907	10	0.29301	T	0.29	-31.6937	19.4215	0.94723	0.0:1.0:0.0:0.0	.	553	P42695	CNDD3_HUMAN	K	553	ENSP00000433681:E553K	ENSP00000431612:E553K	E	-	1	0	NCAPD3	133569802	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.246000	0.58740	2.582000	0.87167	0.650000	0.86243	GAG		0.418	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2		NM_015261		14	79	0	0	0	0.00245	0	14	79		
WNK1	65125	broad.mit.edu	37	12	936320	936320	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:936320G>A	ENST00000315939.6	+	3	1688	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N	WNK1_ENST00000537687.1_Missense_Mutation_p.D349N|WNK1_ENST00000530271.2_Missense_Mutation_p.D349N|WNK1_ENST00000535572.1_Missense_Mutation_p.D349N|WNK1_ENST00000447667.2_Missense_Mutation_p.D349N	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	349	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.D349N(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CATTCACCGCGATCTTAAATG	0.463																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(1045-1047)GAT>AAT		WNK lysine deficient protein kinase 1							184.0	181.0	182.0					12																	936320		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:936320G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1045G>A	12.37:g.936320G>A	ENSP00000313059:p.Asp349Asn					WNK1_uc001qin.2_Missense_Mutation_p.D349N|WNK1_uc001qip.3_Missense_Mutation_p.D349N	p.D349N	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		3	1552	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		349			Protein kinase.	Proton acceptor (By similarity).	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.1045G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	36	5.880532	0.97062	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	D	0.95762	0.8621	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.95876	0.8895	10	0.87932	D	0	-14.6801	19.4859	0.95028	0.0:0.0:1.0:0.0	.	349;349;349	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	N	349	ENSP00000441972:D349N;ENSP00000313059:D349N;ENSP00000444465:D349N;ENSP00000392542:D349N;ENSP00000433548:D349N	ENSP00000313059:D349N	D	+	1	0	WNK1	806581	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	9.869000	0.99810	2.617000	0.88574	0.591000	0.81541	GAT		0.463	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1		NM_018979		69	225	0	0	0	0.01441	0	69	225		
KCNA1	3736	broad.mit.edu	37	12	5020928	5020928	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:5020928G>A	ENST00000382545.3	+	2	1491	c.384G>A	c.(382-384)gaG>gaA	p.E128E	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	128					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.E128E(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	AGGCCATGGAGAAGTTCCGGG	0.632																																						uc001qnh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(382-384)GAG>GAA		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						59.0	64.0	62.0					12																	5020928		2203	4300	6503	SO:0001819	synonymous_variant	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5020928G>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.384G>A	12.37:g.5020928G>A							p.E128E	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	1489	+			128					A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	c.384G>A	CCDS8535.1																																																																																				0.632	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2		NM_000217		18	77	0	0	0	0.006122	0	18	77		
CHD4	1108	broad.mit.edu	37	12	6690250	6690250	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:6690250C>G	ENST00000357008.2	-	33	5032	c.4869G>C	c.(4867-4869)gtG>gtC	p.V1623V	CHD4_ENST00000544484.1_Silent_p.V1648V|CHD4_ENST00000544040.1_Silent_p.V1616V|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000309577.6_Silent_p.V1651V|CHD4_ENST00000540960.1_5'Flank|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1623	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.V1623V(1)|p.V1651V(1)		central_nervous_system(2)	2						TTCTCTCCTTCACCTCTGCCT	0.483																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	central_nervous_system(2)	2						c.(4867-4869)GTG>GTC		chromodomain helicase DNA binding protein 4							265.0	268.0	267.0					12																	6690250		2203	4300	6503	SO:0001819	synonymous_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6690250C>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4869G>C	12.37:g.6690250C>G						CHD4_uc001qpn.2_Silent_p.V1616V|CHD4_uc001qpp.2_Silent_p.V1648V|uc001qpq.1_Intron	p.V1623V	NM_001273	NP_001264	Q14839	CHD4_HUMAN			33	5033	-			1623			Required for interaction with PCNT.		Q8IXZ5	Silent	SNP	ENST00000357008.2	37	c.4869G>C	CCDS8552.1																																																																																				0.483	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273		103	357	0	0	0	0.01441	0	103	357		
SLCO1B7	338821	broad.mit.edu	37	12	21200106	21200106	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:21200106G>C	ENST00000421593.2	+	7	949	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E364Q|LST3_ENST00000381541.3_Missense_Mutation_p.E364Q	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.E317Q(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TAAAATGGTGGAGCAACAGTA	0.338																																						uc010sin.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(949-951)GAG>CAG		liver-specific organic anion transporter 3TM12							116.0	119.0	118.0					12																	21200106		2148	4277	6425	SO:0001583	missense	338821					membrane	transporter activity	g.chr12:21200106G>C	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.949G>C	12.37:g.21200106G>C	ENSP00000394168:p.Glu317Gln					SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.E364Q	p.E317Q	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			7	949	+			317					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.949G>C	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.757008	0.49362	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.71341	-0.56;-0.56;-0.56	3.36	3.36	0.38483	.	0.000000	0.85682	D	0.000000	D	0.86443	0.5934	M	0.93375	3.41	0.38112	D	0.937591	D;D	0.76494	0.996;0.999	D;D	0.79784	0.993;0.993	D	0.90547	0.4506	10	0.87932	D	0	.	12.0485	0.53493	0.0:0.0:1.0:0.0	.	317;364	G3V0H7;F5H094	.;.	Q	364;364;317	ENSP00000370952:E364Q;ENSP00000452013:E364Q;ENSP00000394168:E317Q	ENSP00000370952:E364Q	E	+	1	0	SLCO1B7;RP11-545J16.1	21091373	1.000000	0.71417	0.039000	0.18376	0.010000	0.07245	6.770000	0.74990	1.853000	0.53794	0.460000	0.39030	GAG		0.338	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1		NM_001009562		9	25	0	0	0	0.006214	0	9	25		
SPX	80763	broad.mit.edu	37	12	21680080	21680080	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:21680080G>A	ENST00000256969.2	+	3	265	c.99G>A	c.(97-99)gaG>gaA	p.E33E		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN		33					long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)	p.E33E(1)		endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						GACTGTTGGAGAGAAGGAACT	0.433																																						uc001rfa.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(97-99)GAG>GAA		spexin precursor							110.0	109.0	109.0					12																	21680080		2203	4300	6503	SO:0001819	synonymous_variant	80763					extracellular region|nucleus|transport vesicle		g.chr12:21680080G>A																												ENST00000256969.2:c.99G>A	12.37:g.21680080G>A						C12orf39_uc009ziv.1_5'Flank|C12orf39_uc009ziw.1_5'Flank	p.E33E	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN			3	250	+			33					B3KND6	Silent	SNP	ENST00000256969.2	37	c.99G>A	CCDS31757.1																																																																																				0.433	C12orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402389.1				34	133	0	0	0	0.003271	0	34	133		
ASUN	55726	broad.mit.edu	37	12	27066551	27066551	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:27066551C>T	ENST00000261191.7	-	14	2180	c.1644G>A	c.(1642-1644)gaG>gaA	p.E548E	ASUN_ENST00000539625.1_Silent_p.E447E	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	548					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E548E(1)									TTTGATGTTTCTCTGAGTTGT	0.418																																						uc001rhk.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1642-1644)GAG>GAA		hypothetical protein LOC55726							305.0	300.0	302.0					12																	27066551		2203	4300	6503	SO:0001819	synonymous_variant	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27066551C>T	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1644G>A	12.37:g.27066551C>T						C12orf11_uc001rhj.3_Silent_p.E116E|C12orf11_uc010sjk.1_Silent_p.E447E	p.E548E	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN			14	2181	-	Colorectal(261;0.0847)		548					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Silent	SNP	ENST00000261191.7	37	c.1644G>A	CCDS8708.1																																																																																				0.418	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1		NM_018164		115	375	0	0	0	0.01441	0	115	375		
FGD4	121512	broad.mit.edu	37	12	32735372	32735372	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:32735372G>A	ENST00000427716.2	+	4	995	c.571G>A	c.(571-573)Gag>Aag	p.E191K	FGD4_ENST00000534526.2_Missense_Mutation_p.E328K|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000546442.1_Missense_Mutation_p.E98K|FGD4_ENST00000472289.1_Missense_Mutation_p.E191K|FGD4_ENST00000531134.1_Missense_Mutation_p.E276K|FGD4_ENST00000525053.1_Missense_Mutation_p.E303K	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	191					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.E191K(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TCTGGAACTGGAGCAGCTGGA	0.498																																						uc001rkz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(571-573)GAG>AAG		FYVE, RhoGEF and PH domain containing 4							46.0	47.0	47.0					12																	32735372		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32735372G>A	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.571G>A	12.37:g.32735372G>A	ENSP00000394487:p.Glu191Lys					FGD4_uc001rlc.2_Missense_Mutation_p.E276K|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.E303K|FGD4_uc001rlb.1_RNA|FGD4_uc001rkx.3_Missense_Mutation_p.E191K	p.E191K	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			4	1048	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		191					Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.571G>A	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408481	0.42715	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000472289;ENST00000427716;ENST00000546442;ENST00000525053;ENST00000395742	T;T;T;T;T	0.70164	-0.46;-0.44;-0.44;-0.43;-0.45	5.04	4.13	0.48395	Dbl homology (DH) domain (1);	0.973662	0.08412	N	0.949704	T	0.52757	0.1754	N	0.19112	0.55	0.19300	N	0.999979	B;B;B;P	0.37330	0.144;0.062;0.006;0.59	B;B;B;B	0.40602	0.021;0.021;0.014;0.334	T	0.38564	-0.9655	10	0.19590	T	0.45	-0.5906	7.7623	0.28959	0.2016:0.0:0.7984:0.0	.	303;276;191;191	E9PJX4;B7Z493;Q96M96;E9PQT1	.;.;FGD4_HUMAN;.	K	328;276;191;191;98;303;172	ENSP00000449273:E328K;ENSP00000431323:E276K;ENSP00000394487:E191K;ENSP00000446695:E98K;ENSP00000433666:E303K	ENSP00000379089:E191K	E	+	1	0	FGD4	32626639	0.250000	0.23951	0.194000	0.23346	0.802000	0.45316	2.150000	0.42254	1.086000	0.41228	0.563000	0.77884	GAG		0.498	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1		NM_139241		14	75	0	0	0	0.003163	0	14	75		
LRRK2	120892	broad.mit.edu	37	12	40753217	40753217	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:40753217G>C	ENST00000298910.7	+	47	7057	c.6999G>C	c.(6997-6999)caG>caC	p.Q2333H		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2333					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.Q2340H(1)|p.Q2333H(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCACCATTCAGAAACTCATTG	0.303																																						uc001rmg.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(6997-6999)CAG>CAC		leucine-rich repeat kinase 2							85.0	87.0	86.0					12																	40753217		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40753217G>C	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6999G>C	12.37:g.40753217G>C	ENSP00000298910:p.Gln2333His					LRRK2_uc009zjw.2_Missense_Mutation_p.Q1171H|LRRK2_uc001rmi.2_Missense_Mutation_p.Q1166H	p.Q2333H	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			47	7120	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2333					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.6999G>C	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706741	0.48412	.	.	ENSG00000188906	ENST00000298910	T	0.72282	-0.64	5.81	1.79	0.24919	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.359974	0.33895	N	0.004459	T	0.67277	0.2876	M	0.62723	1.935	0.34507	D	0.706696	P;P	0.44309	0.832;0.832	P;P	0.44447	0.45;0.45	T	0.72937	-0.4140	10	0.51188	T	0.08	.	8.9402	0.35725	0.5569:0.0:0.4431:0.0	.	2333;2333	Q17RV3;Q5S007	.;LRRK2_HUMAN	H	2333	ENSP00000298910:Q2333H	ENSP00000298910:Q2333H	Q	+	3	2	LRRK2	39039484	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.711000	0.37930	0.329000	0.23460	-0.237000	0.12165	CAG		0.303	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1		XM_058513		16	64	0	0	0	0.006122	0	16	64		
COL2A1	1280	broad.mit.edu	37	12	48369179	48369179	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:48369179G>A	ENST00000380518.3	-	51	3971	c.3807C>T	c.(3805-3807)atC>atT	p.I1269I	COL2A1_ENST00000337299.6_Silent_p.I1200I|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1269	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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.I1269I(1)|p.I1200I(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)	CGGGGCTGCGGATGCTCTCAA	0.607																																						uc001rqu.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(3805-3807)ATC>ATT		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						81.0	75.0	77.0					12																	48369179		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:48369179G>A	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.3807C>T	12.37:g.48369179G>A						COL2A1_uc001rqt.2_Silent_p.I50I|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.I1200I	p.I1269I	NM_001844	NP_001835	P02458	CO2A1_HUMAN			51	3988	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1269			Fibrillar collagen NC1.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.3807C>T	CCDS41778.1																																																																																				0.607	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2		NM_001844		25	91	0	0	0	0.003954	0	25	91		
ADCY6	112	broad.mit.edu	37	12	49176905	49176905	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:49176905C>T	ENST00000307885.4	-	1	1007	c.313G>A	c.(313-315)Gag>Aag	p.E105K	ADCY6_ENST00000550422.1_Missense_Mutation_p.E105K|ADCY6_ENST00000357869.3_Missense_Mutation_p.E105K	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	105					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.E105K(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGCGCCACCTCAGCCGTCCCG	0.711																																						uc001rsh.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(313-315)GAG>AAG		adenylate cyclase 6 isoform a							36.0	39.0	38.0					12																	49176905		2202	4298	6500	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49176905C>T		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.313G>A	12.37:g.49176905C>T	ENSP00000311405:p.Glu105Lys					ADCY6_uc001rsj.3_Missense_Mutation_p.E105K|ADCY6_uc001rsi.3_Missense_Mutation_p.E105K	p.E105K	NM_015270	NP_056085	O43306	ADCY6_HUMAN			1	973	-			105			Cytoplasmic (Potential).		Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.313G>A	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250877	0.22880	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.79749	-1.3;-1.3;-1.3	3.9	3.9	0.45041	.	0.627918	0.15724	N	0.247767	T	0.67040	0.2851	L	0.29908	0.895	0.31546	N	0.659328	B;B	0.29716	0.003;0.255	B;B	0.24394	0.004;0.053	T	0.66002	-0.6031	10	0.27082	T	0.32	.	9.9398	0.41574	0.0:0.899:0.0:0.101	.	105;105	O43306-2;O43306	.;ADCY6_HUMAN	K	105	ENSP00000350536:E105K;ENSP00000446730:E105K;ENSP00000311405:E105K	ENSP00000311405:E105K	E	-	1	0	ADCY6	47463172	0.593000	0.26840	0.359000	0.25824	0.161000	0.22273	6.737000	0.74816	2.480000	0.83734	0.407000	0.27541	GAG		0.711	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1		NM_020983		22	89	0	0	0	0.00333	0	22	89		
DDX23	9416	broad.mit.edu	37	12	49228219	49228219	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:49228219G>C	ENST00000308025.3	-	12	1523	c.1444C>G	c.(1444-1446)Caa>Gaa	p.Q482E	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	482	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.Q482E(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCAATCTGTTGAGCCAACTCA	0.547																																						uc001rsm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(3)|ovary(1)|lung(1)|skin(1)	6						c.(1444-1446)CAA>GAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							129.0	111.0	117.0					12																	49228219		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49228219G>C	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1444C>G	12.37:g.49228219G>C	ENSP00000310723:p.Gln482Glu						p.Q482E	NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN			12	1535	-			482			Helicase ATP-binding.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.1444C>G	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902196	0.92035	.	.	ENSG00000174243	ENST00000308025	T	0.12672	2.66	5.13	5.13	0.70059	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	N	0.20328	0.56	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.03545	-1.1026	10	0.66056	D	0.02	-22.8402	17.5127	0.87764	0.0:0.0:1.0:0.0	.	482	Q9BUQ8	DDX23_HUMAN	E	482	ENSP00000310723:Q482E	ENSP00000310723:Q482E	Q	-	1	0	DDX23	47514486	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.474000	0.97718	2.667000	0.90743	0.460000	0.39030	CAA		0.547	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2		NM_004818		33	110	0	0	0	0.005524	0	33	110		
DDX23	9416	broad.mit.edu	37	12	49231850	49231850	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:49231850G>C	ENST00000308025.3	-	6	573	c.494C>G	c.(493-495)tCt>tGt	p.S165C	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	165	Glu-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.S165C(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TTCTGCTTTAGAGAGGAACTT	0.498																																						uc001rsm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(3)|ovary(1)|lung(1)|skin(1)	6						c.(493-495)TCT>TGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							115.0	111.0	113.0					12																	49231850		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49231850G>C	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.494C>G	12.37:g.49231850G>C	ENSP00000310723:p.Ser165Cys						p.S165C	NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN			6	585	-			165			Glu-rich.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.494C>G	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646508	0.87958	.	.	ENSG00000174243	ENST00000550834;ENST00000308025;ENST00000552512	T	0.23754	1.89	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	L	0.58354	1.805	0.80722	D	1	D	0.64830	0.994	P	0.48189	0.57	T	0.24835	-1.0149	10	0.87932	D	0	-10.6247	17.0956	0.86634	0.0:0.0:1.0:0.0	.	165	Q9BUQ8	DDX23_HUMAN	C	9;165;165	ENSP00000310723:S165C	ENSP00000310723:S165C	S	-	2	0	DDX23	47518117	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.340000	0.97038	2.566000	0.86566	0.563000	0.77884	TCT		0.498	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2		NM_004818		39	164	0	0	0	0.007835	0	39	164		
KMT2D	8085	broad.mit.edu	37	12	49434415	49434415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:49434415G>A	ENST00000301067.7	-	31	7137	c.7138C>T	c.(7138-7140)Cag>Tag	p.Q2380*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2380	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q2110*(1)|p.Q2380*(1)									AATGGGGGCTGAGCATATGGG	0.652																																						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.(7138-7140)CAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							26.0	31.0	29.0					12																	49434415		2037	4179	6216	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.chr12:49434415G>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.7138C>T	12.37:g.49434415G>A	ENSP00000301067:p.Gln2380*	HNSCC(34;0.089)					p.Q2380*	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	7138	-			2380			Pro-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.7138C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	46	12.431137	0.99667	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.21	5.21	0.72293	.	0.000000	0.35466	N	0.003185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9117	0.88936	0.0:0.0:1.0:0.0	.	.	.	.	X	2380	.	ENSP00000301067:Q2380X	Q	-	1	0	MLL2	47720682	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	7.607000	0.82883	2.596000	0.87737	0.591000	0.81541	CAG		0.652	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				19	41	0	0	0	0.012319	0	19	41		
SPRYD3	84926	broad.mit.edu	37	12	53460151	53460151	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:53460151C>G	ENST00000301463.4	-	10	1227	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E418Q	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	381	Glu-rich.							p.E381Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						tcctcttcctcttcctcttcc	0.587											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sbt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1141-1143)GAG>CAG		SPRY domain containing 3							256.0	197.0	217.0					12																	53460151		2203	4300	6503	SO:0001583	missense	84926							g.chr12:53460151C>G	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.1141G>C	12.37:g.53460151C>G	ENSP00000301463:p.Glu381Gln		OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	992		p.E381Q	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN			10	1162	-			381			Glu-rich.		B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	c.1141G>C	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535813	0.64972	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	.	.	.	4.68	4.68	0.58851	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);	0.178922	0.35970	N	0.002872	T	0.50274	0.1606	L	0.39898	1.24	0.51767	D	0.999932	P	0.43477	0.808	B	0.42282	0.382	T	0.45101	-0.9284	9	0.21540	T	0.41	.	15.472	0.75446	0.0:1.0:0.0:0.0	.	381	Q8NCJ5	SPRY3_HUMAN	Q	381;418	.	ENSP00000301463:E381Q	E	-	1	0	SPRYD3	51746418	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.001000	0.63946	2.316000	0.78162	0.655000	0.94253	GAG		0.587	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1		NM_032840		24	73	0	0	0	0.00333	0	24	73		
SPRYD3	84926	broad.mit.edu	37	12	53460160	53460160	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:53460160C>T	ENST00000301463.4	-	10	1218	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E415K	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	378	Glu-rich.							p.E378K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						tcttcctcttcctcctcttcc	0.572											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sbt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1132-1134)GAA>AAA		SPRY domain containing 3							241.0	184.0	204.0					12																	53460160		2203	4300	6503	SO:0001583	missense	84926							g.chr12:53460160C>T	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.1132G>A	12.37:g.53460160C>T	ENSP00000301463:p.Glu378Lys		OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	992		p.E378K	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN			10	1153	-			378			Glu-rich.		B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	c.1132G>A	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	c	16.55	3.154237	0.57259	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	.	.	.	4.87	4.87	0.63330	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);	0.330627	0.27253	N	0.020216	T	0.37865	0.1019	N	0.14661	0.345	0.45676	D	0.99859	B	0.19817	0.039	B	0.12156	0.007	T	0.21280	-1.0250	9	0.12430	T	0.62	.	13.8993	0.63792	0.0:1.0:0.0:0.0	.	378	Q8NCJ5	SPRY3_HUMAN	K	378;415	.	ENSP00000301463:E378K	E	-	1	0	SPRYD3	51746427	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.752000	0.68728	2.419000	0.82065	0.651000	0.88453	GAA		0.572	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1		NM_032840		21	71	0	0	0	0.012319	0	21	71		
ATF7	11016	broad.mit.edu	37	12	53911120	53911120	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:53911120G>C	ENST00000548446.2	-	12	1398	c.1286C>G	c.(1285-1287)tCa>tGa	p.S429*	ATF7_ENST00000456903.4_Nonsense_Mutation_p.S418*|ATF7_ENST00000415113.1_Nonsense_Mutation_p.S397*|RP11-793H13.10_ENST00000591834.1_Intron|RP11-793H13.3_ENST00000548347.1_RNA|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000328463.7_Nonsense_Mutation_p.S429*|ATF7_ENST00000420353.2_Nonsense_Mutation_p.S418*			P17544	ATF7_HUMAN	activating transcription factor 7	429	Essential for binding adenovirus 2 E1A.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S429*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	CGTTGGCTCTGAGCTTTCCTT	0.547																																						uc001sdy.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(1)|lung(1)	2						c.(1285-1287)TCA>TGA		activating transcription factor 7 isoform 1							53.0	55.0	54.0					12																	53911120		1964	4163	6127	SO:0001587	stop_gained	11016				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:53911120G>C	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.1286C>G	12.37:g.53911120G>C	ENSP00000449938:p.Ser429*					ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Nonsense_Mutation_p.S418*|ATF7_uc010sol.1_Nonsense_Mutation_p.S397*|uc001sdx.2_RNA	p.S429*	NM_001130059	NP_001123531	P17544	ATF7_HUMAN			11	1307	-			429			Essential for binding adenovirus 2 E1A.		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Nonsense_Mutation	SNP	ENST00000548446.2	37	c.1286C>G		.	.	.	.	.	.	.	.	.	.	G	26.7	4.766811	0.90020	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000306727;ENST00000415113;ENST00000420353;ENST00000456903	.	.	.	4.6	4.6	0.57074	.	0.071579	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-2.7894	12.6395	0.56702	0.0:0.1671:0.8328:0.0	.	.	.	.	X	429;429;242;397;418;418	.	ENSP00000304187:S242X	S	-	2	0	ATF7	52197387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.467000	0.66737	2.582000	0.87167	0.555000	0.69702	TCA		0.547	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2		NM_001130059		8	20	0	0	0	0.00308	0	8	20		
GPR84	53831	broad.mit.edu	37	12	54756622	54756622	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:54756622G>A	ENST00000551809.1	-	1	1649	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Silent_p.L338L			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	338						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.L338L(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CCAGAATGTTGAGCAGCAAGA	0.537																																						uc001sfu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(2)	2						c.(1012-1014)CTC>CTT		G protein-coupled receptor 84							135.0	135.0	135.0					12																	54756622		2203	4300	6503	SO:0001819	synonymous_variant	53831					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756622G>A	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.1014C>T	12.37:g.54756622G>A							p.L338L	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN			2	1104	-			338			Helical; Name=6; (Potential).		B6V9G7	Silent	SNP	ENST00000551809.1	37	c.1014C>T	CCDS8878.1																																																																																				0.537	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1				59	168	0	0	0	0.01441	0	59	168		
PA2G4	5036	broad.mit.edu	37	12	56505295	56505295	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:56505295G>C	ENST00000303305.6	+	12	1520	c.1101G>C	c.(1099-1101)caG>caC	p.Q367H	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	367	Interaction with RNA. {ECO:0000250}.|Necessary for nucleolar localization.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)	p.Q367H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GAAAAACCCAGAAAAAGAAAA	0.393																																						uc001sjm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1099-1101)CAG>CAC		ErbB3-binding protein 1							110.0	116.0	114.0					12																	56505295		2190	4298	6488	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56505295G>C	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.1101G>C	12.37:g.56505295G>C	ENSP00000302886:p.Gln367His					PA2G4_uc009zol.2_Intron|PA2G4_uc009zom.2_Intron	p.Q367H	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		12	1520	+			367			Necessary for nucleolar localization.|Interaction with RNA (By similarity).		O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.1101G>C	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532628	0.45073	.	.	ENSG00000170515	ENST00000303305;ENST00000417031	.	.	.	5.43	2.66	0.31614	.	0.000000	0.85682	D	0.000000	T	0.68952	0.3057	M	0.68593	2.085	0.80722	D	1	D	0.57571	0.98	D	0.66979	0.948	T	0.66324	-0.5952	9	0.45353	T	0.12	.	9.8868	0.41266	0.2141:0.0:0.7859:0.0	.	367	Q9UQ80	PA2G4_HUMAN	H	367;396	.	ENSP00000302886:Q367H	Q	+	3	2	PA2G4	54791562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.232000	0.58645	0.436000	0.26393	0.655000	0.94253	CAG		0.393	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1		NM_006191		33	142	0	0	0	0.003755	0	33	142		
MIP	4284	broad.mit.edu	37	12	56848060	56848060	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:56848060C>G	ENST00000257979.4	-	1	366	c.338G>C	c.(337-339)cGa>cCa	p.R113P	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	113					canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)	p.R113P(1)|p.R113Q(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						TAGGTTTCCTCGGACAGCAGG	0.597																																						uc001slh.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|skin(1)	skin(1)	1						c.(337-339)CGA>CCA		major intrinsic protein of lens fiber							64.0	70.0	68.0					12																	56848060		2202	4300	6502	SO:0001583	missense	4284				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	g.chr12:56848060C>G		CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"""Ion channels / Aquaporins"""	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.338G>C	12.37:g.56848060C>G	ENSP00000257979:p.Arg113Pro						p.R113P	NM_012064	NP_036196	P30301	MIP_HUMAN			1	370	-			113			Extracellular (By similarity).		Q17R41	Missense_Mutation	SNP	ENST00000257979.4	37	c.338G>C	CCDS8919.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615082	0.87359	.	.	ENSG00000135517	ENST00000257979	D	0.86097	-2.07	5.18	5.18	0.71444	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.90995	0.7168	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91174	0.4971	10	0.56958	D	0.05	-3.6374	17.8392	0.88710	0.0:1.0:0.0:0.0	.	113	P30301	MIP_HUMAN	P	113	ENSP00000257979:R113P	ENSP00000257979:R113P	R	-	2	0	MIP	55134327	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.779000	0.68948	2.588000	0.87417	0.561000	0.74099	CGA		0.597	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409620.1		NM_012064		16	60	0	0	0	0.003163	0	16	60		
GLS2	27165	broad.mit.edu	37	12	56868840	56868840	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:56868840G>C	ENST00000311966.4	-	10	1262	c.984C>G	c.(982-984)ctC>ctG	p.L328L	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	328				LK -> HE (in Ref. 1; AAF21933). {ECO:0000305}.	cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.L328L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	TCTTTTCCTTGAGATAATAGC	0.502																																						uc001slj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(982-984)CTC>CTG		glutaminase 2 precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						155.0	168.0	164.0					12																	56868840		2203	4300	6503	SO:0001819	synonymous_variant	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56868840G>C		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.984C>G	12.37:g.56868840G>C						GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Silent_p.L63L|GLS2_uc009zot.2_Intron	p.L328L	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN			10	1263	-			328	LK -> HE (in Ref. 1; AAF21933).				B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	ENST00000311966.4	37	c.984C>G	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650049	0.47362	.	.	ENSG00000135423	ENST00000461077	.	.	.	5.02	3.09	0.35607	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.7568	7.1431	0.25566	0.0:0.2768:0.4941:0.229	.	.	.	.	X	184	.	ENSP00000417244:S184X	S	-	2	0	GLS2	55155107	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.262000	0.18460	0.541000	0.28827	0.650000	0.86243	TCA		0.502	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1		NM_013267		56	200	0	0	0	0.01441	0	56	200		
DTX3	196403	broad.mit.edu	37	12	58001129	58001129	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:58001129G>C	ENST00000548198.1	+	3	1987	c.483G>C	c.(481-483)gaG>gaC	p.E161D	ARHGEF25_ENST00000333972.7_5'Flank|DTX3_ENST00000551632.1_Missense_Mutation_p.E164D|DTX3_ENST00000337737.3_Missense_Mutation_p.E161D|DTX3_ENST00000548804.1_Missense_Mutation_p.E161D			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	161					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E161D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					AAGAGCAGGAGAGCACCTGCC	0.662																																						uc001sow.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)|central_nervous_system(1)	2						c.(481-483)GAG>GAC		deltex homolog 3							18.0	19.0	18.0					12																	58001129		1885	4091	5976	SO:0001583	missense	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58001129G>C	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.483G>C	12.37:g.58001129G>C	ENSP00000447873:p.Glu161Asp					DTX3_uc001sov.1_Missense_Mutation_p.E154D|DTX3_uc001sox.1_Missense_Mutation_p.E154D|DTX3_uc001soy.1_Missense_Mutation_p.E154D|GEFT_uc009zpy.2_5'Flank|GEFT_uc001soz.1_5'Flank	p.E161D	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN			5	820	+	Melanoma(17;0.122)		161					Q53ZZ2|Q8NAU6|Q8NDS8	Missense_Mutation	SNP	ENST00000548198.1	37	c.483G>C	CCDS41800.1	.	.	.	.	.	.	.	.	.	.	G	9.553	1.116532	0.20795	.	.	ENSG00000178498	ENST00000548804;ENST00000549583;ENST00000337737;ENST00000548198;ENST00000551632;ENST00000548478	T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	4.23	2.16	0.27623	Zinc finger, RING/FYVE/PHD-type (1);	0.127172	0.52532	D	0.000075	T	0.36386	0.0965	N	0.14661	0.345	0.31694	N	0.64149	B	0.18741	0.03	B	0.20577	0.03	T	0.28522	-1.0041	10	0.10636	T	0.68	-1.9397	6.4935	0.22130	0.1113:0.186:0.7028:0.0	.	161	Q8N9I9	DTX3_HUMAN	D	161;164;161;161;164;154	ENSP00000449294:E161D;ENSP00000449688:E164D;ENSP00000338050:E161D;ENSP00000447873:E161D;ENSP00000448696:E164D;ENSP00000448224:E154D	ENSP00000338050:E161D	E	+	3	2	DTX3	56287396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.257000	0.32932	0.875000	0.35847	0.549000	0.68633	GAG		0.662	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1		NM_178502		6	16	0	0	0	0.001984	0	6	16		
DPY19L2	283417	broad.mit.edu	37	12	63963010	63963010	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:63963010C>G	ENST00000324472.4	-	21	2303	c.2120G>C	c.(2119-2121)aGa>aCa	p.R707T	DPY19L2_ENST00000413230.2_Missense_Mutation_p.R154T	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	707					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.R707T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TCACTTAGTTCTCACAACACA	0.299																																						uc001srp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(2119-2121)AGA>ACA		dpy-19-like 2							38.0	44.0	42.0					12																	63963010		2179	4246	6425	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63963010C>G		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.2120G>C	12.37:g.63963010C>G	ENSP00000315988:p.Arg707Thr					DPY19L2_uc010sso.1_Missense_Mutation_p.R154T	p.R707T	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	21	2301	-			707					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.2120G>C	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947908	0.34377	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.58358	0.34;0.34	3.78	2.88	0.33553	.	0.207538	0.41500	N	0.000864	T	0.63153	0.2487	M	0.86573	2.825	0.42102	D	0.991344	P	0.39131	0.661	P	0.48488	0.579	T	0.62779	-0.6782	9	.	.	.	.	6.8943	0.24247	0.0:0.8699:0.0:0.1301	.	707	Q6NUT2	D19L2_HUMAN	T	707;154	ENSP00000315988:R707T;ENSP00000439794:R154T	.	R	-	2	0	DPY19L2	62249277	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.082000	0.50128	0.760000	0.33108	0.400000	0.26472	AGA		0.299	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2		NM_173812		37	120	0	0	0	0.01441	0	37	120		
KRR1	11103	broad.mit.edu	37	12	75900673	75900673	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:75900673C>T	ENST00000229214.4	-	3	305	c.282G>A	c.(280-282)ctG>ctA	p.L94L	KRR1_ENST00000438169.2_Silent_p.L94L	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	94					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.L94L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TGCCTTCGATCAGGTCCAGGG	0.373																																						uc001sxt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(280-282)CTG>CTA		HIV-1 rev binding protein 2							95.0	82.0	87.0					12																	75900673		2202	4300	6502	SO:0001819	synonymous_variant	11103				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75900673C>T	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.282G>A	12.37:g.75900673C>T						KRR1_uc009zsc.2_Silent_p.L94L|KRR1_uc010stx.1_Silent_p.L94L	p.L94L	NM_007043	NP_008974	Q13601	KRR1_HUMAN			3	323	-			94					A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Silent	SNP	ENST00000229214.4	37	c.282G>A	CCDS9012.1																																																																																				0.373	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1		NM_007043		22	56	0	0	0	0.00278	0	22	56		
NAV3	89795	broad.mit.edu	37	12	78225383	78225383	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:78225383G>T	ENST00000397909.2	+	1	315	c.142G>T	c.(142-144)Gag>Tag	p.E48*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.E48*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.E48*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.E48*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	48						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.E48*(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TACTGAAACAGAGAGCTCCAT	0.453										HNSCC(70;0.22)																												uc001syp.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(142-144)GAG>TAG		neuron navigator 3							111.0	102.0	105.0					12																	78225383		1878	4123	6001	SO:0001587	stop_gained	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78225383G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.142G>T	12.37:g.78225383G>T	ENSP00000381007:p.Glu48*	HNSCC(70;0.22)				NAV3_uc001syo.2_Nonsense_Mutation_p.E48*	p.E48*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			1	315	+			48					Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37	c.142G>T		.	.	.	.	.	.	.	.	.	.	G	40	8.052754	0.98629	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-6.5663	19.516	0.95165	0.0:0.0:1.0:0.0	.	.	.	.	X	48	.	ENSP00000228327:E48X	E	+	1	0	NAV3	76749514	1.000000	0.71417	0.933000	0.37362	0.997000	0.91878	7.960000	0.87893	2.623000	0.88846	0.655000	0.94253	GAG		0.453	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1		NM_001024383		34	115	1	0	8.16721e-17	0.010818	8.45889e-17	34	115		
C12orf50	160419	broad.mit.edu	37	12	88391905	88391905	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:88391905G>C	ENST00000298699.2	-	4	376	c.196C>G	c.(196-198)Ctg>Gtg	p.L66V	C12orf50_ENST00000550553.1_Missense_Mutation_p.L66V	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	66								p.L66V(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGAGGTTTCAGAGGTTCTTGA	0.373																																						uc001tam.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(196-198)CTG>GTG		hypothetical protein LOC160419							144.0	139.0	141.0					12																	88391905		2203	4300	6503	SO:0001583	missense	160419							g.chr12:88391905G>C	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.196C>G	12.37:g.88391905G>C	ENSP00000298699:p.Leu66Val					C12orf50_uc001tan.2_Missense_Mutation_p.L120V	p.L66V	NM_152589	NP_689802	Q8NA57	CL050_HUMAN			4	364	-			66					Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.196C>G	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626063	0.46840	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944;ENST00000551163	T;T	0.37584	1.19;1.2	5.72	0.79	0.18613	.	0.000000	0.50627	D	0.000117	T	0.33352	0.0860	N	0.24115	0.695	0.28620	N	0.908223	P;D	0.71674	0.942;0.998	P;D	0.83275	0.697;0.996	T	0.26292	-1.0107	10	0.12103	T	0.63	.	4.3465	0.11134	0.4004:0.0:0.4484:0.1512	.	120;66	G3V208;Q8NA57	.;CL050_HUMAN	V	66;66;120;66	ENSP00000298699:L66V;ENSP00000448344:L66V	ENSP00000298699:L66V	L	-	1	2	C12orf50	86916036	0.982000	0.34865	0.999000	0.59377	0.707000	0.40811	0.047000	0.14056	0.365000	0.24400	0.591000	0.81541	CTG		0.373	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1		NM_152589		22	53	0	0	0	0.014323	0	22	53		
DEPDC4	120863	broad.mit.edu	37	12	100649888	100649888	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:100649888C>G	ENST00000416321.1	-	4	819	c.817G>C	c.(817-819)Gat>Cat	p.D273H	Y_RNA_ENST00000384063.1_RNA	NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	273					intracellular signal transduction (GO:0035556)			p.D273H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						ATAACAAGATCTTCCTCTTTG	0.328																																						uc001thi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(817-819)GAT>CAT		DEP domain containing 4							172.0	153.0	159.0					12																	100649888		2203	4298	6501	SO:0001583	missense	120863				intracellular signal transduction			g.chr12:100649888C>G	AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.817G>C	12.37:g.100649888C>G	ENSP00000396234:p.Asp273His					DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Missense_Mutation_p.D219H|DEPDC4_uc009ztv.1_Missense_Mutation_p.D273H|DEPDC4_uc001thk.1_Missense_Mutation_p.D84H|DEPDC4_uc001thl.1_RNA	p.D273H	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN			4	820	-			273					Q496C8|Q96BW0	Missense_Mutation	SNP	ENST00000416321.1	37	c.817G>C	CCDS9075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.37|13.37	2.216125|2.216125	0.39201|0.39201	.|.	.|.	ENSG00000166153|ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642|ENST00000548313	T;T;T;T|.	0.41065|.	1.01;1.31;1.21;1.02|.	4.52|4.52	2.66|2.66	0.31614|0.31614	.|.	0.397062|.	0.25726|.	U|.	0.028709|.	T|T	0.48390|0.48390	0.1497|0.1497	L|L	0.59436|0.59436	1.845|1.845	0.29839|0.29839	N|N	0.829352|0.829352	P;P;B;D|.	0.71674|.	0.583;0.583;0.031;0.998|.	B;B;B;P|.	0.61722|.	0.109;0.109;0.01;0.893|.	T|T	0.45833|0.45833	-0.9234|-0.9234	10|5	0.72032|.	D|.	0.01|.	.|.	7.6196|7.6196	0.28177|0.28177	0.164:0.7469:0.0:0.0891|0.164:0.7469:0.0:0.0891	.|.	273;273;219;273|.	E9PGM3;A4FU15;Q3ZCN8;Q8N2C3|.	.;.;.;DEPD4_HUMAN|.	H|N	273;219;273;273;219;266|83	ENSP00000396234:D273H;ENSP00000448385:D273H;ENSP00000448338:D219H;ENSP00000449590:D266H|.	ENSP00000367490:D273H|.	D|K	-|-	1|3	0|2	DEPDC4|DEPDC4	99174019|99174019	0.243000|0.243000	0.23878|0.23878	0.010000|0.010000	0.14722|0.14722	0.515000|0.515000	0.34225|0.34225	0.254000|0.254000	0.18314|0.18314	0.334000|0.334000	0.23590|0.23590	0.514000|0.514000	0.50259|0.50259	GAT|AAG		0.328	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1		NM_152317		26	91	0	0	0	0.003954	0	26	91		
UTP20	27340	broad.mit.edu	37	12	101711260	101711260	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:101711260G>C	ENST00000261637.4	+	22	2731	c.2557G>C	c.(2557-2559)Gag>Cag	p.E853Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	853					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.E853Q(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CGGTAGCAATGAGTATTACCC	0.488																																						uc001tia.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)	4						c.(2557-2559)GAG>CAG		down-regulated in metastasis							63.0	64.0	64.0					12																	101711260		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101711260G>C	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.2557G>C	12.37:g.101711260G>C	ENSP00000261637:p.Glu853Gln						p.E853Q	NM_014503	NP_055318	O75691	UTP20_HUMAN			22	2713	+			853					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.2557G>C	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668320	0.88348	.	.	ENSG00000120800	ENST00000261637	T	0.67698	-0.28	5.36	5.36	0.76844	Armadillo-type fold (1);	0.052024	0.85682	D	0.000000	T	0.76385	0.3980	M	0.79926	2.475	0.80722	D	1	D	0.64830	0.994	P	0.51324	0.666	T	0.74740	-0.3563	10	0.22109	T	0.4	-22.7286	19.079	0.93173	0.0:0.0:1.0:0.0	.	853	O75691	UTP20_HUMAN	Q	853	ENSP00000261637:E853Q	ENSP00000261637:E853Q	E	+	1	0	UTP20	100235391	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	8.663000	0.91134	2.518000	0.84900	0.591000	0.81541	GAG		0.488	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1		NM_014503		16	51	0	0	0	0.00499	0	16	51		
MYBPC1	4604	broad.mit.edu	37	12	102036345	102036345	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:102036345G>C	ENST00000550270.1	+	9	739	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	MYBPC1_ENST00000361685.2_Missense_Mutation_p.E272Q|MYBPC1_ENST00000549145.1_Missense_Mutation_p.E260Q|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E235Q|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E148Q|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E228Q|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E221Q|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E247Q|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E247Q|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E247Q|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E233Q|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E247Q|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E272Q|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E234Q|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E247Q			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	247					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.E272Q(1)|p.E247Q(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CATGCGCAGAGAGGAGAAGAA	0.632																																						uc001tii.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|liver(1)|skin(1)	4						c.(739-741)GAG>CAG		myosin binding protein C, slow type isoform 3							45.0	39.0	41.0					12																	102036345		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102036345G>C		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.739G>C	12.37:g.102036345G>C	ENSP00000449702:p.Glu247Gln					MYBPC1_uc001tif.1_Missense_Mutation_p.E260Q|MYBPC1_uc001tig.2_Missense_Mutation_p.E272Q|MYBPC1_uc010svq.1_Missense_Mutation_p.E234Q|MYBPC1_uc001tih.2_Missense_Mutation_p.E272Q|MYBPC1_uc001tij.2_Missense_Mutation_p.E247Q|MYBPC1_uc010svr.1_Missense_Mutation_p.E247Q|MYBPC1_uc010svs.1_Missense_Mutation_p.E247Q|MYBPC1_uc010svt.1_Missense_Mutation_p.E235Q|MYBPC1_uc010svu.1_Missense_Mutation_p.E228Q|MYBPC1_uc001tik.2_Missense_Mutation_p.E221Q	p.E247Q	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			9	841	+			247					B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.739G>C	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751403	0.69533	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61274	0.14;0.13;0.12;0.14;0.15;0.12;0.14;0.14;0.15;0.12;0.17;0.13;0.13;0.19;0.14	5.53	5.53	0.82687	.	0.359171	0.19920	N	0.103114	T	0.76004	0.3927	M	0.87180	2.865	0.49915	D	0.999836	B;B;P;B;B;B;B;B;B;B;B	0.43909	0.278;0.413;0.821;0.096;0.096;0.096;0.155;0.096;0.114;0.155;0.155	B;B;P;B;B;B;B;B;B;B;P	0.52514	0.285;0.216;0.701;0.216;0.266;0.192;0.387;0.266;0.13;0.387;0.454	T	0.77606	-0.2525	9	.	.	.	.	19.4713	0.94963	0.0:0.0:1.0:0.0	.	228;235;247;247;234;221;247;247;272;272;260	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	Q	221;247;247;247;234;233;272;260;247;272;247;228;235;272;148;247	ENSP00000448175:E221Q;ENSP00000400908:E247Q;ENSP00000388989:E247Q;ENSP00000353822:E247Q;ENSP00000376665:E234Q;ENSP00000447362:E233Q;ENSP00000354845:E272Q;ENSP00000447660:E260Q;ENSP00000447900:E247Q;ENSP00000440034:E247Q;ENSP00000446128:E228Q;ENSP00000442847:E235Q;ENSP00000354849:E272Q;ENSP00000447116:E148Q;ENSP00000449702:E247Q	.	E	+	1	0	MYBPC1	100560476	1.000000	0.71417	0.972000	0.41901	0.628000	0.37860	7.648000	0.83479	2.587000	0.87381	0.563000	0.77884	GAG		0.632	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1				4	9	0	0	0	0.000602	0	4	9		
ANKRD13A	88455	broad.mit.edu	37	12	110463573	110463573	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:110463573G>A	ENST00000261739.4	+	8	994	c.828G>A	c.(826-828)gtG>gtA	p.V276V		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	276						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.V276V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						ATGTGAATGTGATCACCAAAA	0.398																																						uc001tpx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(826-828)GTG>GTA		ankyrin repeat domain 13							185.0	172.0	176.0					12																	110463573		2203	4300	6503	SO:0001819	synonymous_variant	88455							g.chr12:110463573G>A	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.828G>A	12.37:g.110463573G>A						ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc010sxw.1_Silent_p.V276V|ANKRD13A_uc001tpy.2_5'UTR|ANKRD13A_uc001tpz.2_5'Flank	p.V276V	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN			8	1087	+			276					O60736	Silent	SNP	ENST00000261739.4	37	c.828G>A	CCDS9140.1																																																																																				0.398	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1		NM_033121		57	123	0	0	0	0.01441	0	57	123		
BRAP	8315	broad.mit.edu	37	12	112096587	112096587	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:112096587C>T	ENST00000327551.6	-	9	1224	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	BRAP_ENST00000539060.1_Missense_Mutation_p.E213K|BRAP_ENST00000419234.4_Missense_Mutation_p.E392K			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E392K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						GTATCCCCCTCACATTCATAC	0.348																																					Pancreas(146;846 1904 7830 25130 26065)	uc001tsn.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(1174-1176)GAG>AAG		BRCA1 associated protein							197.0	183.0	187.0					12																	112096587		2203	4300	6503	SO:0001583	missense	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112096587C>T	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.1084G>A	12.37:g.112096587C>T	ENSP00000330813:p.Glu362Lys					BRAP_uc010syh.1_Missense_Mutation_p.E213K|BRAP_uc009zvv.2_Missense_Mutation_p.E362K	p.E392K	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN			9	1368	-			392					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	37	c.1174G>A		.	.	.	.	.	.	.	.	.	.	C	16.91	3.253380	0.59212	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.62788	0.0;0.0;0.0	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	L	0.56769	1.78	0.80722	D	1	P;P	0.52842	0.956;0.473	P;B	0.62184	0.899;0.056	T	0.65705	-0.6103	10	0.10377	T	0.69	-22.1172	19.4175	0.94708	0.0:1.0:0.0:0.0	.	213;392	B4DRM1;Q7Z569	.;BRAP_HUMAN	K	392;213;362;174	ENSP00000403524:E392K;ENSP00000441659:E213K;ENSP00000330813:E362K	ENSP00000330813:E362K	E	-	1	0	BRAP	110580970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.232000	0.78116	2.606000	0.88127	0.650000	0.86243	GAG		0.348	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2				18	73	0	0	0	0.008871	0	18	73		
NOS1	4842	broad.mit.edu	37	12	117685219	117685219	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:117685219C>G	ENST00000338101.4	-	18	2863	c.2859G>C	c.(2857-2859)atG>atC	p.M953I	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.M919I			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.M919I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCCCTTCCCTCATCTTCAGGA	0.547																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(2755-2757)ATG>ATC		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						106.0	108.0	107.0					12																	117685219		1971	4157	6128	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117685219C>G		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2859G>C	12.37:g.117685219C>G	ENSP00000337459:p.Met953Ile						p.M919I	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	18	3443	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		919			Flavodoxin-like.			Missense_Mutation	SNP	ENST00000338101.4	37	c.2757G>C	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161182	0.38119	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.73152	-0.72;-0.72	4.62	4.62	0.57501	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	N	0.05031	-0.125	0.80722	D	1	B	0.28026	0.198	B	0.39152	0.292	T	0.56463	-0.7975	10	0.25106	T	0.35	-28.8911	17.6803	0.88241	0.0:1.0:0.0:0.0	.	919	P29475	NOS1_HUMAN	I	814;919;919;953	ENSP00000320758:M919I;ENSP00000337459:M953I	ENSP00000320758:M919I	M	-	3	0	NOS1	116169602	1.000000	0.71417	0.992000	0.48379	0.931000	0.56810	4.829000	0.62737	2.408000	0.81797	0.655000	0.94253	ATG		0.547	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1				25	97	0	0	0	0.003954	0	25	97		
CIT	11113	broad.mit.edu	37	12	120166373	120166373	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:120166373C>T	ENST00000261833.7	-	27	3451	c.3399G>A	c.(3397-3399)atG>atA	p.M1133I	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.M1175I	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1133	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.M1176I(1)|p.M1133I(1)|p.M1175I(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTCGGGCATTCATTTCAAGCA	0.463																																						uc001txi.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(3397-3399)ATG>ATA		citron							229.0	219.0	222.0					12																	120166373		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120166373C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3399G>A	12.37:g.120166373C>T	ENSP00000261833:p.Met1133Ile					CIT_uc001txh.1_Missense_Mutation_p.M667I|CIT_uc001txj.1_Missense_Mutation_p.M1175I	p.M1133I	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	27	3452	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1133			Potential.|Interaction with Rho/Rac.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.3399G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550407	0.65311	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.64260	-0.05;-0.09	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	L	0.27053	0.805	0.58432	D	0.999994	P;P;P	0.42248	0.69;0.465;0.774	B;B;B	0.33454	0.164;0.117;0.155	T	0.57266	-0.7841	10	0.59425	D	0.04	.	19.5949	0.95533	0.0:1.0:0.0:0.0	.	1175;1133;666	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	I	1175;1133	ENSP00000376306:M1175I;ENSP00000261833:M1133I	ENSP00000261833:M1133I	M	-	3	0	CIT	118650756	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.756000	0.68757	2.641000	0.89580	0.655000	0.94253	ATG		0.463	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4		NM_007174		84	280	0	0	0	0.01441	0	84	280		
KDM2B	84678	broad.mit.edu	37	12	121882022	121882022	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:121882022G>C	ENST00000377071.4	-	16	2316	c.2244C>G	c.(2242-2244)ctC>ctG	p.L748L	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.L116L|KDM2B_ENST00000377069.4_Silent_p.L717L	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	748					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.L748L(1)|p.L387L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTGCTCCTTGAGCAGGGAGC	0.572											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001uat.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(2242-2244)CTC>CTG		F-box and leucine-rich repeat protein 10 isoform							60.0	62.0	61.0					12																	121882022		2003	4167	6170	SO:0001819	synonymous_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121882022G>C	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2244C>G	12.37:g.121882022G>C			OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1514	KDM2B_uc001uaq.2_Silent_p.L188L|KDM2B_uc010szy.1_Silent_p.L188L|KDM2B_uc001uar.2_Silent_p.L339L|KDM2B_uc001uas.2_Silent_p.L717L|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_5'UTR|KDM2B_uc010szx.1_5'UTR|KDM2B_uc001uap.2_RNA	p.L748L	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			16	2348	-			748					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.2244C>G	CCDS41850.1																																																																																				0.572	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2		NM_032590		38	90	0	0	0	0.004289	0	38	90		
SETD8	387893	broad.mit.edu	37	12	123875261	123875261	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:123875261G>A	ENST00000402868.3	+	3	643	c.217G>A	c.(217-219)Gag>Aag	p.E73K	SETD8_ENST00000478781.2_3'UTR|SETD8_ENST00000330479.4_Missense_Mutation_p.E73K			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	114					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)	p.E73K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CCTTCAGGAAGAGAACTCAGT	0.453																																						uc001uew.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(217-219)GAG>AAG		SET domain-containing 8							116.0	109.0	111.0					12																	123875261		2203	4300	6503	SO:0001583	missense	387893				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity	g.chr12:123875261G>A	AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.217G>A	12.37:g.123875261G>A	ENSP00000384629:p.Glu73Lys					SETD8_uc001uex.2_Missense_Mutation_p.E8K	p.E73K	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)	3	259	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		114					A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	ENST00000402868.3	37	c.217G>A	CCDS9247.1	.	.	.	.	.	.	.	.	.	.	G	35	5.541105	0.96474	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D	0.99176	-5.52;-5.52	5.29	5.29	0.74685	.	0.055431	0.64402	D	0.000001	D	0.98311	0.9440	L	0.59436	1.845	0.48511	D	0.999664	P;P	0.52316	0.952;0.925	B;P	0.47162	0.417;0.54	D	0.98962	1.0798	10	0.49607	T	0.09	-19.3434	18.5385	0.91019	0.0:0.0:1.0:0.0	.	114;73	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	K	73;73;64	ENSP00000384629:E73K;ENSP00000332995:E73K	ENSP00000332995:E73K	E	+	1	0	SETD8	122441214	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.927000	0.70080	2.474000	0.83562	0.561000	0.74099	GAG		0.453	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1		NM_020382		24	90	0	0	0	0.00333	0	24	90		
PIWIL1	9271	broad.mit.edu	37	12	130830392	130830392	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:130830392G>A	ENST00000245255.3	+	4	557	c.285G>A	c.(283-285)caG>caA	p.Q95Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	95					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.Q95Q(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATACAAGGCAGAACCTAGACC	0.393																																						uc001uik.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(283-285)CAG>CAA		piwi-like 1							130.0	122.0	124.0					12																	130830392		2203	4300	6503	SO:0001819	synonymous_variant	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130830392G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.285G>A	12.37:g.130830392G>A						PIWIL1_uc001uij.1_Silent_p.Q95Q	p.Q95Q	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	4	375	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		95					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	c.285G>A	CCDS9268.1																																																																																				0.393	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1				19	84	0	0	0	0.007413	0	19	84		
GPR133	283383	broad.mit.edu	37	12	131498798	131498798	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:131498798G>A	ENST00000261654.5	+	13	1945	c.1386G>A	c.(1384-1386)ctG>ctA	p.L462L	GPR133_ENST00000535015.1_Silent_p.L494L|GPR133_ENST00000376682.4_Silent_p.L148L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	462					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L462L(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCAGCCACCTGATTTCCCTGG	0.582																																						uc001uit.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(5)|ovary(3)|skin(2)	10						c.(1384-1386)CTG>CTA		G protein-coupled receptor 133 precursor							127.0	103.0	111.0					12																	131498798		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131498798G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1386G>A	12.37:g.131498798G>A						GPR133_uc010tbm.1_Silent_p.L494L	p.L462L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	13	1945	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		462			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1386G>A	CCDS9272.1																																																																																				0.582	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1		NM_198827		8	102	0	0	0	0.00308	0	8	102		
ZMYM2	7750	broad.mit.edu	37	13	20567555	20567555	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:20567555G>A	ENST00000382874.2	+	4	533	c.343G>A	c.(343-345)Gag>Aag	p.E115K	ZMYM2_ENST00000382881.3_Missense_Mutation_p.E115K|ZMYM2_ENST00000382871.2_Missense_Mutation_p.E115K|ZMYM2_ENST00000382869.3_Missense_Mutation_p.E115K	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.E115K(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AAGTGTAAGTGAGACAATTGT	0.353																																						uc001umr.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(3)|ovary(2)|prostate(1)	6						c.(343-345)GAG>AAG		zinc finger protein 198							58.0	59.0	59.0					13																	20567555		2097	4254	6351	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20567555G>A	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.343G>A	13.37:g.20567555G>A	ENSP00000372327:p.Glu115Lys					ZMYM2_uc001umq.2_Missense_Mutation_p.E115K|ZMYM2_uc001ums.2_Missense_Mutation_p.E115K|ZMYM2_uc001umt.2_Missense_Mutation_p.E115K|ZMYM2_uc009zzn.1_Missense_Mutation_p.E137K	p.E115K	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	4	641	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	115					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.343G>A	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269822	0.80469	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.39	5.39	0.77823	.	0.349077	0.31279	N	0.007931	T	0.54902	0.1887	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.85130	0.993;0.993;0.997	T	0.55166	-0.8183	10	0.72032	D	0.01	1.8733	19.5108	0.95140	0.0:0.0:1.0:0.0	.	115;115;115	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	K	115	ENSP00000372322:E115K;ENSP00000372334:E115K;ENSP00000372327:E115K;ENSP00000372324:E115K	ENSP00000372322:E115K	E	+	1	0	ZMYM2	19465555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.551000	0.82182	2.670000	0.90874	0.650000	0.86243	GAG		0.353	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2		NM_003453		13	33	0	0	0	0.001855	0	13	33		
ZMYM2	7750	broad.mit.edu	37	13	20567608	20567608	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:20567608G>C	ENST00000382874.2	+	4	586	c.396G>C	c.(394-396)gaG>gaC	p.E132D	ZMYM2_ENST00000382881.3_Missense_Mutation_p.E132D|ZMYM2_ENST00000382871.2_Missense_Mutation_p.E132D|ZMYM2_ENST00000382869.3_Missense_Mutation_p.E132D	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.E132D(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AAGGGCAAGAGAAAAATTCCT	0.383																																						uc001umr.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(3)|ovary(2)|prostate(1)	6						c.(394-396)GAG>GAC		zinc finger protein 198							74.0	78.0	77.0					13																	20567608		2087	4247	6334	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20567608G>C	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.396G>C	13.37:g.20567608G>C	ENSP00000372327:p.Glu132Asp					ZMYM2_uc001umq.2_Missense_Mutation_p.E132D|ZMYM2_uc001ums.2_Missense_Mutation_p.E132D|ZMYM2_uc001umt.2_Missense_Mutation_p.E132D|ZMYM2_uc009zzn.1_Missense_Mutation_p.E154D	p.E132D	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	4	694	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	132					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.396G>C	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	9.763	1.170515	0.21621	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.39	2.65	0.31530	.	0.316703	0.33290	N	0.005079	T	0.20292	0.0488	L	0.40543	1.245	0.80722	D	1	B;B;B	0.22851	0.001;0.001;0.076	B;B;B	0.25506	0.006;0.004;0.061	T	0.07121	-1.0789	10	0.21540	T	0.41	-0.6421	4.4857	0.11788	0.2138:0.0:0.5189:0.2673	.	132;132;132	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	D	132	ENSP00000372322:E132D;ENSP00000372334:E132D;ENSP00000372327:E132D;ENSP00000372324:E132D	ENSP00000372322:E132D	E	+	3	2	ZMYM2	19465608	0.998000	0.40836	1.000000	0.80357	0.916000	0.54674	0.374000	0.20501	0.302000	0.22762	-0.157000	0.13467	GAG		0.383	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2		NM_003453		17	65	0	0	0	0.004007	0	17	65		
MRPL57	78988	broad.mit.edu	37	13	21751269	21751269	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:21751269G>C	ENST00000309594.4	+	2	292	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	SKA3_ENST00000314759.5_5'Flank|SKA3_ENST00000400018.3_5'Flank	NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN		72					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.E72Q(1)		kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		GGAGGCCTTCGAGGCCATAAA	0.612																																						uc001unw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(214-216)GAG>CAG		mitochondrial ribosomal protein 63							33.0	31.0	32.0					13																	21751269		2203	4300	6503	SO:0001583	missense	78988							g.chr13:21751269G>C																												ENST00000309594.4:c.214G>C	13.37:g.21751269G>C	ENSP00000310726:p.Glu72Gln					SKA3_uc001unt.2_5'Flank|SKA3_uc001unv.2_5'Flank|SKA3_uc001unu.2_5'Flank	p.E72Q	NM_024026	NP_076931	Q9BQC6	RT63_HUMAN		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)	2	704	+		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	72					A2A332	Missense_Mutation	SNP	ENST00000309594.4	37	c.214G>C	CCDS9296.1	.	.	.	.	.	.	.	.	.	.	G	8.604	0.887625	0.17540	.	.	ENSG00000173141	ENST00000309594	.	.	.	5.86	-0.0991	0.13625	.	0.464050	0.21046	N	0.081096	T	0.28928	0.0718	L	0.43701	1.375	0.09310	N	0.999993	B	0.21452	0.056	B	0.15484	0.013	T	0.13656	-1.0501	9	0.34782	T	0.22	4.7145	7.0638	0.25141	0.2461:0.3335:0.4203:0.0	.	72	Q9BQC6	RT63_HUMAN	Q	72	.	ENSP00000310726:E72Q	E	+	1	0	MRP63	20649269	0.949000	0.32298	0.002000	0.10522	0.001000	0.01503	1.075000	0.30716	-0.389000	0.07786	-0.136000	0.14681	GAG		0.612	MRP63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044105.2				12	41	0	0	0	0.013537	0	12	41		
NBEA	26960	broad.mit.edu	37	13	36229746	36229746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:36229746G>A	ENST00000400445.3	+	54	8693	c.8159G>A	c.(8158-8160)tGg>tAg	p.W2720*	NBEA_ENST00000540320.1_Nonsense_Mutation_p.W2720*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.W2717*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.W2720*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.W298*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.W513*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2720					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.W2720*(1)|p.W2720L(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTGGCCATTGGGATGTGGTC	0.458																																						uc001uvb.2		NaN																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		urinary_tract(1)|lung(1)	ovary(9)|large_intestine(2)	11						c.(8158-8160)TGG>TAG		neurobeachin							216.0	221.0	219.0					13																	36229746		2066	4213	6279	SO:0001587	stop_gained	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36229746G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8159G>A	13.37:g.36229746G>A	ENSP00000383295:p.Trp2720*					NBEA_uc010abi.2_Nonsense_Mutation_p.W1376*|NBEA_uc010tef.1_Nonsense_Mutation_p.W513*|NBEA_uc001uvd.2_Nonsense_Mutation_p.W298*	p.W2720*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	54	8365	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2720			WD 2.		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	37	c.8159G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	42	9.710181	0.99244	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	X	2720;2720;2717;2720;1347;298;513;298	.	ENSP00000308534:W2720X	W	+	2	0	NBEA	35127746	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.694000	0.98686	2.882000	0.98803	0.655000	0.94253	TGG		0.458	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_015678		61	214	0	0	0	0.01441	0	61	214		
ELF1	1997	broad.mit.edu	37	13	41515451	41515451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:41515451G>A	ENST00000239882.3	-	8	1176	c.862C>T	c.(862-864)Cag>Tag	p.Q288*	ELF1_ENST00000442101.1_Nonsense_Mutation_p.Q264*|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	288					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q288*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TCTTTAAACTGATACACCAAG	0.368																																						uc001uxs.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(862-864)CAG>TAG		E74-like factor 1 (ets domain transcription							104.0	124.0	117.0					13																	41515451		2203	4299	6502	SO:0001587	stop_gained	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41515451G>A	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.862C>T	13.37:g.41515451G>A	ENSP00000239882:p.Gln288*					ELF1_uc010tfc.1_Nonsense_Mutation_p.Q264*|ELF1_uc010acd.2_Nonsense_Mutation_p.Q181*	p.Q288*	NM_172373	NP_758961	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	8	1235	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	288			ETS.		B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Nonsense_Mutation	SNP	ENST00000239882.3	37	c.862C>T	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	40	8.111527	0.98659	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	19.9093	0.97021	0.0:0.0:1.0:0.0	.	.	.	.	X	264;30;288	.	ENSP00000239882:Q288X	Q	-	1	0	ELF1	40413451	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.785000	0.95823	0.655000	0.94253	CAG		0.368	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3		NM_172373		58	185	0	0	0	0.01441	0	58	185		
KBTBD6	89890	broad.mit.edu	37	13	41705016	41705016	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:41705016C>G	ENST00000379485.1	-	1	1866	c.1632G>C	c.(1630-1632)tgG>tgC	p.W544C	KBTBD6_ENST00000499385.2_Missense_Mutation_p.W478C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	544								p.W544C(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TCATTTGCCTCCATTCTGCCC	0.448																																						uc001uxu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1630-1632)TGG>TGC		kelch repeat and BTB (POZ) domain-containing 6							155.0	147.0	150.0					13																	41705016		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705016C>G	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1632G>C	13.37:g.41705016C>G	ENSP00000368799:p.Trp544Cys					KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.W478C|uc001uxv.1_5'Flank	p.W544C	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1921	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	544			Kelch 4.		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1632G>C	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	14.94	2.686536	0.47991	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.79653	-1.29;-1.29	3.8	3.8	0.43715	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.84120	0.5402	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85964	0.1472	10	0.87932	D	0	.	13.5205	0.61566	0.0:1.0:0.0:0.0	.	478;544	F5GZN7;Q86V97	.;KBTB6_HUMAN	C	544;478	ENSP00000368799:W544C;ENSP00000444326:W478C	ENSP00000368799:W544C	W	-	3	0	KBTBD6	40603016	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	4.464000	0.60134	2.132000	0.65825	0.462000	0.41574	TGG		0.448	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1		NM_152903		52	173	0	0	0	0.01441	0	52	173		
KBTBD6	89890	broad.mit.edu	37	13	41705099	41705099	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:41705099C>T	ENST00000379485.1	-	1	1783	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.E451K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	517								p.E517K(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ACGCAGGCTTCCTGAAAGTCA	0.433																																						uc001uxu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1549-1551)GAA>AAA		kelch repeat and BTB (POZ) domain-containing 6							91.0	87.0	89.0					13																	41705099		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705099C>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1549G>A	13.37:g.41705099C>T	ENSP00000368799:p.Glu517Lys					KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.E451K|uc001uxv.1_5'Flank	p.E517K	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1838	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	517			Kelch 3.		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1549G>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	3.640	-0.073820	0.07184	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.66280	-0.2;-0.2	3.72	2.86	0.33363	Kelch-type beta propeller (1);	0.062514	0.64402	D	0.000007	T	0.42944	0.1225	N	0.17082	0.46	0.32900	D	0.513028	B;B	0.22003	0.063;0.017	B;B	0.19946	0.027;0.012	T	0.50906	-0.8772	10	0.52906	T	0.07	.	8.8452	0.35166	0.0:0.8846:0.0:0.1154	.	451;517	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	517;451	ENSP00000368799:E517K;ENSP00000444326:E451K	ENSP00000368799:E517K	E	-	1	0	KBTBD6	40603099	1.000000	0.71417	0.993000	0.49108	0.560000	0.35617	2.615000	0.46368	0.901000	0.36495	0.462000	0.41574	GAA		0.433	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1		NM_152903		20	109	0	0	0	0.007413	0	20	109		
KBTBD6	89890	broad.mit.edu	37	13	41706332	41706332	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:41706332C>G	ENST00000379485.1	-	1	550	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	KBTBD6_ENST00000499385.2_Intron	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	106	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.E106Q(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TGCTGGCTCTCGTACATGCCA	0.622																																						uc001uxu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(316-318)GAG>CAG		kelch repeat and BTB (POZ) domain-containing 6							61.0	48.0	52.0					13																	41706332		2203	4299	6502	SO:0001583	missense	89890						protein binding	g.chr13:41706332C>G	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.316G>C	13.37:g.41706332C>G	ENSP00000368799:p.Glu106Gln					KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Intron|uc001uxv.1_5'Flank	p.E106Q	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	605	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	106			BTB.		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.316G>C	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	19.39	3.817937	0.71028	.	.	ENSG00000165572	ENST00000379485	T	0.75589	-0.95	3.59	3.59	0.41128	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89921	0.6855	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92769	0.6230	10	0.87932	D	0	.	13.0584	0.58994	0.0:1.0:0.0:0.0	.	106	Q86V97	KBTB6_HUMAN	Q	106	ENSP00000368799:E106Q	ENSP00000368799:E106Q	E	-	1	0	KBTBD6	40604332	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	5.624000	0.67764	2.024000	0.59613	0.313000	0.20887	GAG		0.622	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1		NM_152903		17	59	0	0	0	0.004007	0	17	59		
NAA16	79612	broad.mit.edu	37	13	41943355	41943355	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:41943355G>C	ENST00000379406.3	+	15	2207	c.1883G>C	c.(1882-1884)aGa>aCa	p.R628T	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	628					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.R628T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						aagaaaaaaagagatgaagaa	0.353																																						uc001uyf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1882-1884)AGA>ACA		NMDA receptor regulated 1-like protein isoform							64.0	68.0	67.0					13																	41943355		2203	4300	6503	SO:0001583	missense	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41943355G>C	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1883G>C	13.37:g.41943355G>C	ENSP00000368716:p.Arg628Thr					NAA16_uc010tfg.1_RNA	p.R628T	NM_024561	NP_078837	Q6N069	NAA16_HUMAN			15	2207	+			628					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	c.1883G>C	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295398	0.40594	.	.	ENSG00000172766	ENST00000379406	T	0.41400	1.0	5.58	3.78	0.43462	.	0.181881	0.38111	N	0.001816	T	0.19127	0.0459	N	0.03608	-0.345	0.80722	D	1	B	0.14805	0.011	B	0.25759	0.063	T	0.04796	-1.0926	10	0.15952	T	0.53	-8.1634	8.8614	0.35261	0.2361:0.0:0.7639:0.0	.	628	Q6N069	NAA16_HUMAN	T	628	ENSP00000368716:R628T	ENSP00000368716:R628T	R	+	2	0	NAA16	40841355	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.684000	0.54671	0.655000	0.30866	0.655000	0.94253	AGA		0.353	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2		NM_018527		13	69	0	0	0	0.013537	0	13	69		
TNFSF11	8600	broad.mit.edu	37	13	43180957	43180957	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:43180957G>C	ENST00000239849.6	+	5	1008	c.857G>C	c.(856-858)gGa>gCa	p.G286A	TNFSF11_ENST00000405262.2_Missense_Mutation_p.G213A|TNFSF11_ENST00000398795.2_Missense_Mutation_p.G213A|TNFSF11_ENST00000544862.1_Missense_Mutation_p.G213A|TNFSF11_ENST00000358545.2_Missense_Mutation_p.G213A			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	286					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.G286A(1)		kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	TTACGGTCTGGAGAGGAAATC	0.433																																						uc001uyu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(856-858)GGA>GCA		tumor necrosis factor ligand superfamily, member							95.0	96.0	95.0					13																	43180957		2203	4300	6503	SO:0001583	missense	8600				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	g.chr13:43180957G>C	AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.857G>C	13.37:g.43180957G>C	ENSP00000239849:p.Gly286Ala					TNFSF11_uc001uyt.2_Missense_Mutation_p.G213A	p.G286A	NM_003701	NP_003692	O14788	TNF11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	5	1006	+		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	286			Extracellular (Potential).		O14723|Q96Q17|Q9P2Q3	Missense_Mutation	SNP	ENST00000239849.6	37	c.857G>C	CCDS9384.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371224	0.42003	.	.	ENSG00000120659	ENST00000358545;ENST00000405262;ENST00000239849;ENST00000398795;ENST00000544862	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	5.74	5.74	0.90152	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.051225	0.85682	D	0.000000	D	0.86339	0.5909	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84972	0.0883	10	0.48119	T	0.1	-19.7928	20.2982	0.98569	0.0:0.0:1.0:0.0	.	286	O14788	TNF11_HUMAN	A	213;213;286;213;213	ENSP00000351347:G213A;ENSP00000384042:G213A;ENSP00000239849:G286A;ENSP00000381775:G213A;ENSP00000444913:G213A	ENSP00000239849:G286A	G	+	2	0	TNFSF11	42078957	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	6.722000	0.74735	2.873000	0.98535	0.563000	0.77884	GGA		0.433	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2				36	135	0	0	0	0.004289	0	36	135		
KPNA3	3839	broad.mit.edu	37	13	50276524	50276524	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:50276524C>T	ENST00000261667.3	-	16	1879	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	489					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.D489N(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTACTTACATCATCACCAGAG	0.274																																						uc001vdj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1465-1467)GAT>AAT		karyopherin alpha 3							70.0	73.0	72.0					13																	50276524		2192	4285	6477	SO:0001583	missense	3839				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	g.chr13:50276524C>T	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.1465G>A	13.37:g.50276524C>T	ENSP00000261667:p.Asp489Asn						p.D489N	NM_002267	NP_002258	O00505	IMA3_HUMAN		GBM - Glioblastoma multiforme(99;1.42e-09)	16	1880	-		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	489					O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	ENST00000261667.3	37	c.1465G>A	CCDS9421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.041751|5.041751	0.93685|0.93685	.|.	.|.	ENSG00000102753|ENSG00000102753	ENST00000261667|ENST00000436760	T|.	0.64618|.	-0.11|.	5.89|5.89	5.89|5.89	0.94794|0.94794	Armadillo-type fold (1);|.	0.183714|.	0.56097|.	D|.	0.000022|.	T|T	0.73001|0.73001	0.3531|0.3531	L|L	0.56340|0.56340	1.77|1.77	0.80722|0.80722	D|D	1|1	B|.	0.20164|.	0.042|.	B|.	0.24848|.	0.056|.	T|T	0.67868|0.67868	-0.5559|-0.5559	10|5	0.52906|.	T|.	0.07|.	-7.5201|-7.5201	20.3171|20.3171	0.98658|0.98658	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	489|.	O00505|.	IMA3_HUMAN|.	N|I	489|75	ENSP00000261667:D489N|.	ENSP00000261667:D489N|.	D|M	-|-	1|3	0|0	KPNA3|KPNA3	49174525|49174525	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.008000|6.008000	0.70739|0.70739	2.801000|2.801000	0.96364|0.96364	0.650000|0.650000	0.86243|0.86243	GAT|ATG		0.274	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2		NM_002267		9	42	0	0	0	0.008291	0	9	42		
KPNA3	3839	broad.mit.edu	37	13	50299570	50299570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:50299570G>A	ENST00000261667.3	-	7	865	c.451C>T	c.(451-453)Caa>Taa	p.Q151*		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	151	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.Q151*(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		ACAACAGCTTGAGTCTGTGCA	0.338																																						uc001vdj.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(451-453)CAA>TAA		karyopherin alpha 3							82.0	74.0	77.0					13																	50299570		2203	4300	6503	SO:0001587	stop_gained	3839				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	g.chr13:50299570G>A	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.451C>T	13.37:g.50299570G>A	ENSP00000261667:p.Gln151*						p.Q151*	NM_002267	NP_002258	O00505	IMA3_HUMAN		GBM - Glioblastoma multiforme(99;1.42e-09)	7	866	-		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	151			ARM 3.|NLS binding site (major) (By similarity).		O00191|O43195|Q5JVM9|Q96AA7	Nonsense_Mutation	SNP	ENST00000261667.3	37	c.451C>T	CCDS9421.1	.	.	.	.	.	.	.	.	.	.	G	40	8.398427	0.98794	.	.	ENSG00000102753	ENST00000261667	.	.	.	5.66	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8266	14.7028	0.69166	0.0699:0.0:0.9301:0.0	.	.	.	.	X	151	.	ENSP00000261667:Q151X	Q	-	1	0	KPNA3	49197571	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	1.384000	0.46424	0.609000	0.83330	CAA		0.338	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2		NM_002267		14	44	0	0	0	0.004007	0	14	44		
KPNA3	3839	broad.mit.edu	37	13	50299581	50299581	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:50299581G>A	ENST00000261667.3	-	7	854	c.440C>T	c.(439-441)tCt>tTt	p.S147F		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	147	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.S147F(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		AGTCTGTGCAGAAGTTCCTGA	0.348																																						uc001vdj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(439-441)TCT>TTT		karyopherin alpha 3							83.0	76.0	78.0					13																	50299581		2203	4300	6503	SO:0001583	missense	3839				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	g.chr13:50299581G>A	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.440C>T	13.37:g.50299581G>A	ENSP00000261667:p.Ser147Phe						p.S147F	NM_002267	NP_002258	O00505	IMA3_HUMAN		GBM - Glioblastoma multiforme(99;1.42e-09)	7	855	-		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	147			ARM 2.|NLS binding site (major) (By similarity).		O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	ENST00000261667.3	37	c.440C>T	CCDS9421.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823320	0.90873	.	.	ENSG00000102753	ENST00000261667	T	0.71461	-0.57	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88887	0.6559	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90678	0.4603	10	0.59425	D	0.04	-9.579	19.7407	0.96230	0.0:0.0:1.0:0.0	.	147	O00505	IMA3_HUMAN	F	147	ENSP00000261667:S147F	ENSP00000261667:S147F	S	-	2	0	KPNA3	49197582	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.813000	0.99286	2.654000	0.90174	0.609000	0.83330	TCT		0.348	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2		NM_002267		15	49	0	0	0	0.00499	0	15	49		
GPC5	2262	broad.mit.edu	37	13	92560198	92560198	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:92560198C>T	ENST00000377067.3	+	6	1660	c.1288C>T	c.(1288-1290)Cag>Tag	p.Q430*		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	430					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.Q430*(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TAGTTATACTCAGCGTGTGGT	0.383																																						uc010tif.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1288-1290)CAG>TAG		glypican 5 precursor							71.0	75.0	73.0					13																	92560198		1358	2305	3663	SO:0001587	stop_gained	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92560198C>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1288C>T	13.37:g.92560198C>T	ENSP00000366267:p.Gln430*						p.Q430*	NM_004466	NP_004457	P78333	GPC5_HUMAN			6	1654	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	430					B2R726|O60436|Q9BX27	Nonsense_Mutation	SNP	ENST00000377067.3	37	c.1288C>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	37	6.348758	0.97494	.	.	ENSG00000179399	ENST00000377067	.	.	.	4.73	2.92	0.33932	.	0.805753	0.11331	N	0.574983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-2.9835	12.5588	0.56269	0.0:0.6782:0.3218:0.0	.	.	.	.	X	430	.	ENSP00000366267:Q430X	Q	+	1	0	GPC5	91358199	0.897000	0.30589	0.986000	0.45419	0.069000	0.16628	2.537000	0.45702	0.476000	0.27440	0.585000	0.79938	CAG		0.383	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1		NM_004466		20	74	0	0	0	0.00278	0	20	74		
TPP2	7174	broad.mit.edu	37	13	103298650	103298650	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:103298650G>A	ENST00000376065.4	+	20	2436	c.2400G>A	c.(2398-2400)gtG>gtA	p.V800V	TPP2_ENST00000376052.3_Silent_p.V800V	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	800					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.V800V(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACAGCCCAGTGAGTGCAAAAA	0.338																																						uc001vpi.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2398-2400)GTG>GTA		tripeptidyl peptidase II							103.0	91.0	95.0					13																	103298650		2203	4300	6503	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103298650G>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2400G>A	13.37:g.103298650G>A							p.V800V	NM_003291	NP_003282	P29144	TPP2_HUMAN			20	2503	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		800					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.2400G>A	CCDS9502.1																																																																																				0.338	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2				11	41	0	0	0	0.010729	0	11	41		
SLC10A2	6555	broad.mit.edu	37	13	103701788	103701788	+	Missense_Mutation	SNP	G	G	A	rs145541774		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:103701788G>A	ENST00000245312.3	-	5	1366	c.770C>T	c.(769-771)aCg>aTg	p.T257M		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	257					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.T257M(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	AAAAGCAACCGTTCGGCACCT	0.408													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16304	0.0		0.0	False		,,,				2504	0.0					uc001vpy.3		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|large_intestine(1)	ovary(3)|skin(1)	4						c.(769-771)ACG>ATG		solute carrier family 10 (sodium/bile acid		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	96.0	74.0	81.0		770	5.7	0.6	13	dbSNP_134	81	0,8600		0,0,4300	yes	missense	SLC10A2	NM_000452.2	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	257/349	103701788	2,13004	2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103701788G>A	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.770C>T	13.37:g.103701788G>A	ENSP00000245312:p.Thr257Met						p.T257M	NM_000452	NP_000443	Q12908	NTCP2_HUMAN			5	1367	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		257			Extracellular (Potential).		A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.770C>T	CCDS9506.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.74	3.687681	0.68157	4.54E-4	0.0	ENSG00000125255	ENST00000245312	T	0.75938	-0.98	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.89842	0.6832	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91125	0.4933	10	0.87932	D	0	-15.9881	20.181	0.98201	0.0:0.0:1.0:0.0	.	257	Q12908	NTCP2_HUMAN	M	257	ENSP00000245312:T257M	ENSP00000245312:T257M	T	-	2	0	SLC10A2	102499789	1.000000	0.71417	0.563000	0.28383	0.118000	0.20060	9.804000	0.99143	2.840000	0.97914	0.655000	0.94253	ACG		0.408	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1				18	55	0	0	0	0.006122	0	18	55		
FAM155A	728215	broad.mit.edu	37	13	108518440	108518440	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:108518440C>T	ENST00000375915.2	-	1	643	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	169						integral component of membrane (GO:0016021)		p.E169K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TAACAAGTCTCCAGGCGCCAC	0.697																																						uc001vql.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(505-507)GAG>AAG		family with sequence similarity 155, member A							24.0	30.0	28.0					13																	108518440		2184	4262	6446	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518440C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.505G>A	13.37:g.108518440C>T	ENSP00000365080:p.Glu169Lys						p.E169K	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	1021	-			169					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.505G>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565097	0.65651	.	.	ENSG00000204442	ENST00000375915	T	0.15017	2.46	5.45	4.6	0.57074	.	0.473409	0.20704	N	0.087209	T	0.15998	0.0385	N	0.22421	0.69	0.36973	D	0.893935	P	0.46142	0.873	B	0.44044	0.439	T	0.10474	-1.0628	10	0.66056	D	0.02	.	14.667	0.68915	0.1463:0.8537:0.0:0.0	.	169	B1AL88	F155A_HUMAN	K	169	ENSP00000365080:E169K	ENSP00000365080:E169K	E	-	1	0	FAM155A	107316441	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	6.745000	0.74860	1.283000	0.44513	-0.314000	0.08810	GAG		0.697	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2		NM_001080396		16	66	0	0	0	0.004007	0	16	66		
TEP1	7011	broad.mit.edu	37	14	20841487	20841487	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:20841487G>A	ENST00000262715.5	-	47	6796	c.6756C>T	c.(6754-6756)ctC>ctT	p.L2252L	TEP1_ENST00000556935.1_Silent_p.L2144L|TEP1_ENST00000545983.1_Silent_p.L590L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2252					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.L2252L(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGGTCAGCATGAGGCCTGAGG	0.587																																						uc001vxe.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)	5						c.(6754-6756)CTC>CTT		telomerase-associated protein 1							83.0	85.0	85.0					14																	20841487		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841487G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6756C>T	14.37:g.20841487G>A						TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.2_Silent_p.L1595L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.L2144L|TEP1_uc010tlh.1_Silent_p.L590L	p.L2252L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	47	6796	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2252			WD 15.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.6756C>T	CCDS9548.1																																																																																				0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2		NM_007110		38	113	0	0	0	0.004878	0	38	113		
RNASE10	338879	broad.mit.edu	37	14	20978929	20978929	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:20978929C>G	ENST00000328444.5	+	1	318	c.299C>G	c.(298-300)tCa>tGa	p.S100*	RNASE10_ENST00000430083.1_Nonsense_Mutation_p.S128*	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	100					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.S100*(1)		endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CTCAGAGCCTCAGCTCTCTTT	0.493																																						uc010tlj.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(298-300)TCA>TGA		ribonuclease, RNase A family, 10 (non-active)							75.0	68.0	70.0					14																	20978929		2203	4300	6503	SO:0001587	stop_gained	338879					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:20978929C>G		CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"""Ribonucleases, RNase A"""	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.299C>G	14.37:g.20978929C>G	ENSP00000333358:p.Ser100*					RNASE10_uc001vxp.2_Nonsense_Mutation_p.S128*	p.S100*	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)	1	299	+	all_cancers(95;0.00123)		100					A2RUQ3|B4DKY4	Nonsense_Mutation	SNP	ENST00000328444.5	37	c.299C>G	CCDS32035.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778335	0.70107	.	.	ENSG00000182545	ENST00000430083;ENST00000328444	.	.	.	4.29	0.429	0.16506	.	1.304430	0.05327	N	0.527698	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-15.1687	5.2159	0.15342	0.5395:0.3631:0.0974:0.0	.	.	.	.	X	128;100	.	ENSP00000333358:S100X	S	+	2	0	RNASE10	20048769	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.611000	0.36879	0.071000	0.16664	-0.266000	0.10368	TCA		0.493	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411088.1		XM_292225		11	35	0	0	0	0.008291	0	11	35		
CHD8	57680	broad.mit.edu	37	14	21863460	21863460	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:21863460C>T	ENST00000557364.1	-	29	5442	c.5179G>A	c.(5179-5181)Gaa>Aaa	p.E1727K	CHD8_ENST00000399982.2_Missense_Mutation_p.E1727K|CHD8_ENST00000430710.3_Missense_Mutation_p.E1448K|CHD8_ENST00000555962.1_5'UTR|SNORD8_ENST00000363915.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1727					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.E1727K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGTTTACCTTCATCTCCATCA	0.468																																						uc001was.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(4342-4344)GAA>AAA		chromodomain helicase DNA binding protein 8							61.0	57.0	58.0					14																	21863460		1919	4118	6037	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21863460C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.5179G>A	14.37:g.21863460C>T	ENSP00000451601:p.Glu1727Lys					CHD8_uc001war.1_Missense_Mutation_p.E1344K	p.E1448K	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	29	4436	-	all_cancers(95;0.00121)		1727					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.4342G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627874	0.28978	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.86865	-2.18;-2.18;-2.18	5.43	5.43	0.79202	.	0.126422	0.56097	D	0.000032	T	0.79293	0.4421	N	0.21448	0.665	0.41573	D	0.988693	B	0.17038	0.02	B	0.26517	0.07	T	0.72221	-0.4356	10	0.05721	T	0.95	.	18.1794	0.89772	0.0:1.0:0.0:0.0	.	1448	Q9HCK8-2	.	K	1448;1727;1447;1727	ENSP00000406288:E1448K;ENSP00000382863:E1727K;ENSP00000451601:E1727K	ENSP00000262707:E1447K	E	-	1	0	CHD8	20933300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.893000	0.69798	2.823000	0.97156	0.650000	0.86243	GAA		0.468	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1		NM_020920		7	24	0	0	0	0.001984	0	7	24		
CDH24	64403	broad.mit.edu	37	14	23524387	23524387	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:23524387G>A	ENST00000267383.5	-	2	469	c.377C>T	c.(376-378)tCc>tTc	p.S126F	CDH24_ENST00000554034.1_Missense_Mutation_p.S126F|CDH24_ENST00000487137.2_Missense_Mutation_p.S126F|CDH24_ENST00000397359.3_Missense_Mutation_p.S126F			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	126	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)	p.S126F(2)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGCCGGTTGGAGGCTCGGTC	0.552											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wil.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(1)	1						c.(376-378)TCC>TTC		cadherin-like 24 isoform 1							69.0	75.0	73.0					14																	23524387		2203	4300	6503	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23524387G>A	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.377C>T	14.37:g.23524387G>A	ENSP00000267383:p.Ser126Phe		OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_uc010akf.2_Missense_Mutation_p.S126F|CDH24_uc001win.3_Missense_Mutation_p.S126F	p.S126F	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	3	637	-	all_cancers(95;3.3e-05)		126			Cadherin 1.|Extracellular (Potential).		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.377C>T	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587206	0.66105	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	4.02	3.1	0.35709	Cadherin (4);Cadherin-like (1);	0.063133	0.64402	D	0.000009	T	0.63534	0.2519	M	0.72894	2.215	0.43480	D	0.995709	D;D;D	0.76494	0.998;0.965;0.999	D;P;D	0.71184	0.916;0.88;0.972	T	0.67864	-0.5560	10	0.87932	D	0	.	11.122	0.48296	0.0972:0.0:0.9028:0.0	.	126;126;126	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	F	126	ENSP00000380517:S126F;ENSP00000434821:S126F;ENSP00000452493:S126F;ENSP00000267383:S126F	ENSP00000267383:S126F	S	-	2	0	CDH24	22594227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.810000	0.86072	2.079000	0.62486	0.561000	0.74099	TCC		0.552	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2		NM_022478		20	131	0	0	0	0.010504	0	20	131		
HECTD1	25831	broad.mit.edu	37	14	31574848	31574848	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:31574848G>C	ENST00000399332.1	-	39	7741	c.7253C>G	c.(7252-7254)tCa>tGa	p.S2418*	HECTD1_ENST00000553700.1_Nonsense_Mutation_p.S2418*	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2418	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.S2418*(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATATATTCTTGAGGAAGGGCA	0.328																																						uc001wrc.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)|lung(1)	5						c.(7252-7254)TCA>TGA		HECT domain containing 1							99.0	91.0	94.0					14																	31574848		1825	4083	5908	SO:0001587	stop_gained	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31574848G>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.7253C>G	14.37:g.31574848G>C	ENSP00000382269:p.Ser2418*					HECTD1_uc001wra.1_Nonsense_Mutation_p.S544*|HECTD1_uc001wrb.1_Nonsense_Mutation_p.S544*	p.S2418*	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	39	7742	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2418			HECT.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Nonsense_Mutation	SNP	ENST00000399332.1	37	c.7253C>G	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.697828|8.697828	0.98918|0.98918	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332	.|.	.|.	.|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.64402	.|U	.|0.000001	T|.	0.82084|.	0.4960|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83537|.	0.0094|.	3|.	.|0.87932	.|D	.|0	-9.2575|-9.2575	19.9341|19.9341	0.97130|0.97130	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	784|2418;2420;2418	.|.	.|ENSP00000261312:S2420X	Q|S	-|-	1|2	0|0	HECTD1|HECTD1	30644599|30644599	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.869000|9.869000	0.99810|0.99810	2.711000|2.711000	0.92665|0.92665	0.563000|0.563000	0.77884|0.77884	CAA|TCA		0.328	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1				35	83	0	0	0	0.003271	0	35	83		
PSMA6	5687	broad.mit.edu	37	14	35786501	35786501	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:35786501G>C	ENST00000261479.4	+	7	850	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	PSMA6_ENST00000556506.1_3'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.E250Q|PSMA6_ENST00000555764.1_Missense_Mutation_p.E165Q|PSMA6_ENST00000540871.1_Missense_Mutation_p.E225Q|KIAA0391_ENST00000557565.1_3'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	244					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 NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)	p.E244Q(1)		kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TGCTCTAGCAGAGAGAGACTA	0.393																																						uc001wtd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(730-732)GAG>CAG		proteasome alpha 6 subunit							217.0	202.0	207.0					14																	35786501		2203	4300	6503	SO:0001583	missense	5687				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 NF-kappaB transcription factor activity|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	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35786501G>C	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.730G>C	14.37:g.35786501G>C	ENSP00000261479:p.Glu244Gln					KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.E165Q|PSMA6_uc010tpu.1_Missense_Mutation_p.E165Q	p.E244Q	NM_002791	NP_002782	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	7	839	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		244					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	ENST00000261479.4	37	c.730G>C	CCDS9655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.40|17.40	3.380952|3.380952	0.61845|0.61845	.|.	.|.	ENSG00000100902|ENSG00000100902	ENST00000540871;ENST00000261479;ENST00000553809;ENST00000555764|ENST00000556221	T;T;T;T|.	0.48201|.	0.82;0.82;0.82;0.82|.	5.21|5.21	4.31|4.31	0.51392|0.51392	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78855|0.78855	0.4349|0.4349	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	P|.	0.35807|.	0.522|.	B|.	0.26614|.	0.071|.	T|T	0.82096|0.82096	-0.0626|-0.0626	10|5	0.72032|.	D|.	0.01|.	5.4759|5.4759	16.2315|16.2315	0.82344|0.82344	0.0:0.1331:0.8669:0.0|0.0:0.1331:0.8669:0.0	.|.	244|.	P60900|.	PSA6_HUMAN|.	Q|H	225;244;250;165|82	ENSP00000444844:E225Q;ENSP00000261479:E244Q;ENSP00000452603:E250Q;ENSP00000452566:E165Q|.	ENSP00000261479:E244Q|.	E|Q	+|+	1|3	0|2	PSMA6|PSMA6	34856252|34856252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	9.010000|9.010000	0.93611|0.93611	1.309000|1.309000	0.44985|0.44985	-0.171000|-0.171000	0.13296|0.13296	GAG|CAG		0.393	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1				30	168	0	0	0	0.012213	0	30	168		
CTAGE5	4253	broad.mit.edu	37	14	39762517	39762517	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:39762517G>A	ENST00000280083.3	+	6	741	c.427G>A	c.(427-429)Gat>Aat	p.D143N	CTAGE5_ENST00000396165.4_Missense_Mutation_p.D114N|CTAGE5_ENST00000341749.3_Missense_Mutation_p.D131N|CTAGE5_ENST00000348007.3_Missense_Mutation_p.D143N|CTAGE5_ENST00000553352.1_Missense_Mutation_p.D114N|CTAGE5_ENST00000556148.1_Missense_Mutation_p.D68N|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.D678N|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.D114N|CTAGE5_ENST00000557038.1_Missense_Mutation_p.D63N|CTAGE5_ENST00000341502.5_Missense_Mutation_p.D143N|CTAGE5_ENST00000396158.2_Missense_Mutation_p.D148N			O15320	CTGE5_HUMAN	CTAGE family, member 5	143					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)	p.D143N(1)	CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TGAACTTGAGGATGAAATACT	0.323																																						uc001wvg.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(427-429)GAT>AAT		CTAGE family, member 5 isoform 1							37.0	42.0	40.0					14																	39762517		2199	4288	6487	SO:0001583	missense	4253						enzyme activator activity|protein binding	g.chr14:39762517G>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.427G>A	14.37:g.39762517G>A	ENSP00000280083:p.Asp143Asn					CTAGE5_uc010tqe.1_Missense_Mutation_p.D105N|CTAGE5_uc001wuz.3_Missense_Mutation_p.D131N|CTAGE5_uc001wuy.3_Missense_Mutation_p.D63N|CTAGE5_uc001wvb.3_Missense_Mutation_p.D114N|CTAGE5_uc001wvc.3_Missense_Mutation_p.D88N|CTAGE5_uc001wva.3_Missense_Mutation_p.D114N|CTAGE5_uc001wve.1_Missense_Mutation_p.D119N|CTAGE5_uc001wvh.3_Missense_Mutation_p.D143N|CTAGE5_uc001wvf.3_Missense_Mutation_p.D68N|CTAGE5_uc001wvi.3_Missense_Mutation_p.D148N|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Missense_Mutation_p.D114N	p.D143N	NM_005930	NP_005921	O15320	CTGE5_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)	6	763	+	Hepatocellular(127;0.213)		143			Potential.		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.427G>A	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792165	0.50102	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000555716;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.27	3.42	0.39159	.	.	.	.	.	T	0.50240	0.1604	M	0.77820	2.39	0.26327	N	0.977573	B;B;P;B;P;B	0.34815	0.079;0.025;0.47;0.025;0.47;0.025	B;B;P;B;P;B	0.45232	0.071;0.049;0.474;0.049;0.474;0.049	T	0.47169	-0.9138	8	.	.	.	.	6.3273	0.21251	0.2736:0.0:0.7264:0.0	.	105;148;143;143;114;131	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	N	678;105;131;63;105;114;143;148;143;68;143;114	ENSP00000452252:D678N;ENSP00000452395:D105N;ENSP00000343897:D131N;ENSP00000450869:D63N;ENSP00000379468:D114N;ENSP00000339286:D143N;ENSP00000379462:D148N;ENSP00000280083:D143N;ENSP00000452562:D68N;ENSP00000343912:D143N;ENSP00000450449:D114N	.	D	+	1	0	CTAGE5;RP11-407N17.3	38832268	0.996000	0.38824	0.999000	0.59377	0.437000	0.31866	1.292000	0.33342	1.359000	0.45940	0.462000	0.41574	GAT		0.323	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2		NM_005930		6	66	0	0	0	0.00308	0	6	66		
FANCM	57697	broad.mit.edu	37	14	45658401	45658401	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:45658401C>G	ENST00000267430.5	+	20	5261	c.5176C>G	c.(5176-5178)Cca>Gca	p.P1726A	FANCM_ENST00000542564.2_Missense_Mutation_p.P1700A	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1726					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.P1726A(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGAGTTAATCCATTAGCAAA	0.408								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(2)|breast(2)	7						c.(5176-5178)CCA>GCA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							143.0	144.0	144.0					14																	45658401		2203	4300	6503	SO:0001583	missense	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45658401C>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5176C>G	14.37:g.45658401C>G	ENSP00000267430:p.Pro1726Ala					FANCM_uc010anf.2_Missense_Mutation_p.P1700A|FANCM_uc001wwe.3_Missense_Mutation_p.P1262A|FANCM_uc010ang.2_Missense_Mutation_p.P940A	p.P1726A	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			20	5275	+			1726					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5176C>G	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.339|7.339	0.620463|0.620463	0.14193|0.14193	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.75821|.	-0.97;-0.97;-0.97|.	5.28|5.28	3.33|3.33	0.38152|0.38152	.|.	2.765360|.	0.00789|.	N|.	0.001326|.	T|T	0.23611|0.23611	0.0571|0.0571	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.17038|.	0.02;0.006|.	B;B|.	0.14023|.	0.01;0.01|.	T|T	0.18618|0.18618	-1.0331|-1.0331	10|5	0.25106|.	T|.	0.35|.	.|.	10.1603|10.1603	0.42847|0.42847	0.1517:0.7015:0.1468:0.0|0.1517:0.7015:0.1468:0.0	.|.	1700;1726|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	A|C	1726;1700;1242|658	ENSP00000267430:P1726A;ENSP00000442493:P1700A;ENSP00000452033:P1242A|.	ENSP00000267430:P1726A|.	P|S	+|+	1|2	0|0	FANCM|FANCM	44728151|44728151	0.013000|0.013000	0.17824|0.17824	0.009000|0.009000	0.14445|0.14445	0.010000|0.010000	0.07245|0.07245	1.194000|1.194000	0.32174|0.32174	1.353000|1.353000	0.45828|0.45828	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.408	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1		XM_048128		72	222	0	0	0	0.01441	0	72	222		
NIN	51199	broad.mit.edu	37	14	51196370	51196370	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:51196370C>T	ENST00000382041.3	-	29	6139	c.5949G>A	c.(5947-5949)caG>caA	p.Q1983Q	NIN_ENST00000245441.5_Silent_p.Q1983Q|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000324330.9_3'UTR|NIN_ENST00000530997.2_Silent_p.Q1983Q|NIN_ENST00000453196.1_Silent_p.Q1983Q|NIN_ENST00000382043.4_Silent_p.Q1270Q	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1983					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.Q1983Q(2)|p.Q1989Q(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)					GACAGGCTTGCTGCTGGAGCA	0.582			T	PDGFRB	MPD																																	uc001wym.2		NaN		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		3	Substitution - coding silent(3)		urinary_tract(3)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(5947-5949)CAG>CAA		ninein isoform 5							89.0	78.0	82.0					14																	51196370		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51196370C>T	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.5949G>A	14.37:g.51196370C>T						NIN_uc001wyi.2_Silent_p.Q1983Q|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.Q1270Q|NIN_uc010tqp.1_Silent_p.Q1989Q|NIN_uc001wyo.2_Silent_p.Q1983Q|NIN_uc001wyn.2_RNA	p.Q1983Q	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			29	6140	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1983			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.5949G>A	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	C	4.390	0.071915	0.08436	.	.	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.23	4.28	0.50868	.	.	.	.	.	T	0.68778	0.3038	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66874	-0.5813	4	.	.	.	-15.3767	14.0324	0.64624	0.1513:0.8487:0.0:0.0	.	.	.	.	T	1474	.	.	A	-	1	0	NIN	50266120	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	2.030000	0.41108	2.624000	0.88883	0.650000	0.86243	GCA		0.582	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2		NM_182946		5	19	0	0	0	0.004482	0	5	19		
NIN	51199	broad.mit.edu	37	14	51204915	51204915	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:51204915C>T	ENST00000382041.3	-	27	5908	c.5718G>A	c.(5716-5718)ttG>ttA	p.L1906L	NIN_ENST00000245441.5_Silent_p.L1906L|NIN_ENST00000389868.3_Silent_p.L1193L|NIN_ENST00000324330.9_Silent_p.L1906L|NIN_ENST00000530997.2_Silent_p.L1906L|NIN_ENST00000453196.1_Silent_p.L1906L|NIN_ENST00000382043.4_Silent_p.L1193L	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1906					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.L1906L(2)|p.L1912L(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)					TCTTTAAGCTCAATTTTTCTT	0.413			T	PDGFRB	MPD																																	uc001wym.2		NaN		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		3	Substitution - coding silent(3)		urinary_tract(3)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(5716-5718)TTG>TTA		ninein isoform 5							272.0	248.0	256.0					14																	51204915		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51204915C>T	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.5718G>A	14.37:g.51204915C>T						NIN_uc001wyi.2_Silent_p.L1906L|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.L1193L|NIN_uc010tqp.1_Silent_p.L1912L|NIN_uc001wyo.2_Silent_p.L1906L|NIN_uc001wyn.2_RNA	p.L1906L	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			27	5909	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1906					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.5718G>A	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	C	8.112	0.779118	0.16120	.	.	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.72	3.9	0.45041	.	.	.	.	.	T	0.59266	0.2181	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55042	-0.8202	4	.	.	.	-0.5805	9.0995	0.36660	0.0:0.7121:0.0:0.2879	.	.	.	.	K	1397	.	.	E	-	1	0	NIN	50274665	0.953000	0.32496	0.949000	0.38748	0.864000	0.49448	0.240000	0.18042	0.888000	0.36160	0.563000	0.77884	GAG		0.413	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2		NM_182946		46	146	0	0	0	0.010771	0	46	146		
AP5M1	55745	broad.mit.edu	37	14	57741516	57741516	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:57741516C>G	ENST00000261558.3	+	2	1035	c.629C>G	c.(628-630)tCt>tGt	p.S210C	AP5M1_ENST00000431972.2_Missense_Mutation_p.S224C	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	210	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)		p.S210C(1)									CCACAAGTTTCTATTTCTATC	0.378																																						uc001xcv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(628-630)TCT>TGT		Mu-2 related death-inducing protein							81.0	89.0	87.0					14																	57741516		2200	4300	6500	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57741516C>G	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.629C>G	14.37:g.57741516C>G	ENSP00000261558:p.Ser210Cys					MUDENG_uc001xcu.3_Missense_Mutation_p.S210C|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_Missense_Mutation_p.S107C	p.S210C	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN			2	1056	+			210			MHD.		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.629C>G	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444569	0.63178	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.20463	2.07;2.07	5.78	4.89	0.63831	Clathrin adaptor, mu subunit, C-terminal (3);	0.341722	0.36854	N	0.002379	T	0.28234	0.0697	L	0.40543	1.245	0.39008	D	0.959481	D;D	0.69078	0.984;0.997	P;P	0.57324	0.738;0.818	T	0.06232	-1.0838	10	0.48119	T	0.1	.	8.327	0.32162	0.249:0.6736:0.0:0.0775	.	210;210	Q9H0R1;Q9H0R1-2	MUDEN_HUMAN;.	C	210;224	ENSP00000261558:S210C;ENSP00000390531:S224C	ENSP00000261558:S210C	S	+	2	0	MUDENG	56811269	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.905000	0.63286	1.586000	0.49944	0.591000	0.81541	TCT		0.378	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1		NM_018229		22	101	0	0	0	0.014323	0	22	101		
ARID4A	5926	broad.mit.edu	37	14	58831340	58831340	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:58831340G>A	ENST00000355431.3	+	20	2906	c.2533G>A	c.(2533-2535)Gaa>Aaa	p.E845K	ARID4A_ENST00000431317.2_Missense_Mutation_p.E845K|ARID4A_ENST00000395168.3_Missense_Mutation_p.E845K|ARID4A_ENST00000348476.3_Missense_Mutation_p.E845K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	845					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E845K(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TACAGAAGATGAAATTGACCA	0.343																																						uc001xdp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|skin(2)|lung(1)	6						c.(2533-2535)GAA>AAA		retinoblastoma-binding protein 1 isoform I							37.0	38.0	38.0					14																	58831340		2202	4297	6499	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831340G>A	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2533G>A	14.37:g.58831340G>A	ENSP00000347602:p.Glu845Lys					ARID4A_uc001xdo.2_Missense_Mutation_p.E845K|ARID4A_uc001xdq.2_Missense_Mutation_p.E845K|ARID4A_uc010apg.1_Missense_Mutation_p.E523K	p.E845K	NM_002892	NP_002883	P29374	ARI4A_HUMAN			20	2787	+			845					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.2533G>A	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039410	0.35989	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.19394	2.34;2.33;2.3;2.33;2.15	6.02	6.02	0.97574	.	0.410604	0.28284	N	0.015919	T	0.18257	0.0438	L	0.40543	1.245	0.49687	D	0.99981	P;B;P	0.39480	0.675;0.115;0.675	B;B;B	0.32864	0.154;0.024;0.154	T	0.05402	-1.0887	10	0.12430	T	0.62	-7.9952	20.5373	0.99239	0.0:0.0:1.0:0.0	.	845;845;845	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	K	845;845;845;845;523	ENSP00000347602:E845K;ENSP00000344556:E845K;ENSP00000378597:E845K;ENSP00000397368:E845K;ENSP00000416053:E523K	ENSP00000344556:E845K	E	+	1	0	ARID4A	57901093	1.000000	0.71417	0.998000	0.56505	0.803000	0.45373	5.771000	0.68881	2.857000	0.98124	0.650000	0.86243	GAA		0.343	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2		NM_023001		8	50	0	0	0	0.00308	0	8	50		
C14orf39	317761	broad.mit.edu	37	14	60923747	60923747	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:60923747C>T	ENST00000321731.3	-	15	1405	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	416					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)			p.E416K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GGAAAATTCTCAGCTCTCTCT	0.353																																						uc001xez.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1246-1248)GAG>AAG		hypothetical protein LOC317761							90.0	103.0	98.0					14																	60923747		2202	4299	6501	SO:0001583	missense	317761							g.chr14:60923747C>T	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1246G>A	14.37:g.60923747C>T	ENSP00000324920:p.Glu416Lys					C14orf39_uc010apo.2_Missense_Mutation_p.E127K	p.E416K	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	15	1356	-			416					Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.1246G>A	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	C	9.773	1.173126	0.21704	.	.	ENSG00000179008	ENST00000321731	T	0.48201	0.82	5.32	4.44	0.53790	.	0.161766	0.43579	D	0.000553	T	0.37183	0.0994	L	0.38531	1.155	0.34219	D	0.675227	B	0.11235	0.004	B	0.14578	0.011	T	0.47947	-0.9077	10	0.52906	T	0.07	-2.9063	10.0016	0.41931	0.0:0.9088:0.0:0.0912	.	416	Q8N1H7	S6OS1_HUMAN	K	416	ENSP00000324920:E416K	ENSP00000324920:E416K	E	-	1	0	C14orf39	59993500	0.973000	0.33851	0.910000	0.35882	0.008000	0.06430	1.590000	0.36654	1.485000	0.48380	-0.244000	0.11960	GAG		0.353	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1		NM_174978		47	158	0	0	0	0.01441	0	47	158		
PSEN1	5663	broad.mit.edu	37	14	73614734	73614734	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:73614734G>A	ENST00000324501.5	+	3	279	c.7G>A	c.(7-9)Gag>Aag	p.E3K	PSEN1_ENST00000394164.1_Missense_Mutation_p.E3K|PSEN1_ENST00000394157.3_Missense_Mutation_p.E3K|PSEN1_ENST00000261970.3_Missense_Mutation_p.E3K|PSEN1_ENST00000557511.1_Missense_Mutation_p.E3K|PSEN1_ENST00000553447.2_3'UTR|PSEN1_ENST00000344094.3_Missense_Mutation_p.E3K|PSEN1_ENST00000357710.4_Missense_Mutation_p.E3K	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	3					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)	p.E3K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TCCAATGACAGAGTTACCTGC	0.428																																						uc001xnr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)|kidney(1)	2						c.(7-9)GAG>AAG		presenilin 1 isoform I-467							110.0	93.0	99.0					14																	73614734		2203	4300	6503	SO:0001583	missense	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73614734G>A	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.7G>A	14.37:g.73614734G>A	ENSP00000326366:p.Glu3Lys					PSEN1_uc001xnv.2_Missense_Mutation_p.E3K|PSEN1_uc010ark.2_Missense_Mutation_p.E3K|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA|PSEN1_uc001xnq.3_Missense_Mutation_p.E3K	p.E3K	NM_000021	NP_000012	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	3	291	+			3			Cytoplasmic (Potential).		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	c.7G>A	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480516	0.63849	.	.	ENSG00000080815	ENST00000557356;ENST00000556864;ENST00000556533;ENST00000556951;ENST00000557293;ENST00000553719;ENST00000553599;ENST00000556011;ENST00000394157;ENST00000324501;ENST00000357710;ENST00000555254;ENST00000261970;ENST00000344094;ENST00000553447;ENST00000554131;ENST00000557037;ENST00000394164;ENST00000556066;ENST00000557511	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99663	-5.49;-3.37;-3.21;-3.49;-5.81;-3.37;-6.33;-6.11;-6.12;-5.86;-6.09;-5.95;-3.86;-6.12;-6.09	5.23	5.23	0.72850	.	0.079417	0.47455	N	0.000232	D	0.97476	0.9174	N	0.08118	0	0.47214	D	0.999359	B;B;B	0.20052	0.002;0.0;0.041	B;B;B	0.16722	0.004;0.0;0.016	D	0.95217	0.8330	10	0.72032	D	0.01	-7.1543	14.667	0.68915	0.0:0.0:1.0:0.0	.	3;3;3	P49768-2;P49768;P49768-4	.;PSN1_HUMAN;.	K	3	ENSP00000451498:E3K;ENSP00000452128:E3K;ENSP00000450551:E3K;ENSP00000451880:E3K;ENSP00000451674:E3K;ENSP00000452477:E3K;ENSP00000377712:E3K;ENSP00000326366:E3K;ENSP00000350342:E3K;ENSP00000450652:E3K;ENSP00000261970:E3K;ENSP00000339523:E3K;ENSP00000451915:E3K;ENSP00000377719:E3K;ENSP00000451429:E3K	ENSP00000261970:E3K	E	+	1	0	PSEN1	72684487	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.689000	0.61723	2.588000	0.87417	0.563000	0.77884	GAG		0.428	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2				11	38	0	0	0	0.003163	0	11	38		
ACOT6	641372	broad.mit.edu	37	14	74086448	74086448	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:74086448C>T	ENST00000381139.1	+	2	860	c.529C>T	c.(529-531)Cac>Tac	p.H177Y	RP3-414A15.10_ENST00000555500.1_RNA|RP3-414A15.10_ENST00000555011.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	177						cytosol (GO:0005829)	carboxylic ester hydrolase activity (GO:0052689)	p.H177Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GCCAAAGGCTCACTCAAAGGC	0.423																																						uc001xop.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(529-531)CAC>TAC		acyl-CoA thioesterase 6							39.0	40.0	40.0					14																	74086448		2203	4299	6502	SO:0001583	missense	641372					cytosol	carboxylesterase activity	g.chr14:74086448C>T	DQ082756, BF109853	CCDS32118.1	14q24.3	2011-02-16			ENSG00000205669	ENSG00000205669		"""Acyl CoA thioesterases"""	33159	protein-coding gene	gene with protein product		614267	"""chromosome 14 open reading frame 42"""	C14orf42		16940157	Standard	NM_001037162		Approved		uc001xop.3	Q3I5F7		ENST00000381139.1:c.529C>T	14.37:g.74086448C>T	ENSP00000370531:p.His177Tyr						p.H177Y	NM_001037162	NP_001032239	Q3I5F7	ACOT6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	2	860	+			177						Missense_Mutation	SNP	ENST00000381139.1	37	c.529C>T	CCDS32118.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971069	0.74246	.	.	ENSG00000205669	ENST00000381139	T	0.37058	1.22	5.62	4.73	0.59995	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.108643	0.64402	D	0.000008	T	0.60366	0.2263	M	0.83774	2.66	0.54753	D	0.999981	D	0.61697	0.99	D	0.63033	0.91	T	0.66400	-0.5933	10	0.56958	D	0.05	-5.8955	14.4256	0.67212	0.0:0.9292:0.0:0.0708	.	177	Q3I5F7	ACOT6_HUMAN	Y	177	ENSP00000370531:H177Y	ENSP00000370531:H177Y	H	+	1	0	ACOT6	73156201	1.000000	0.71417	0.038000	0.18304	0.987000	0.75469	7.137000	0.77295	1.373000	0.46208	0.561000	0.74099	CAC		0.423	ACOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414437.1		NM_001037162		13	71	0	0	0	0.013537	0	13	71		
PNMA1	9240	broad.mit.edu	37	14	74179622	74179622	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:74179622C>G	ENST00000316836.3	-	1	1506	c.721G>C	c.(721-723)Gag>Cag	p.E241Q		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	241					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)		p.E241Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		ctagagctctcaacgctccca	0.512																																						uc001xor.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(721-723)GAG>CAG		paraneoplastic antigen MA1							66.0	74.0	72.0					14																	74179622		2203	4300	6503	SO:0001583	missense	9240				apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	g.chr14:74179622C>G	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.721G>C	14.37:g.74179622C>G	ENSP00000318914:p.Glu241Gln						p.E241Q	NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)	1	1507	-			241					A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	ENST00000316836.3	37	c.721G>C	CCDS9818.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275396	0.80580	.	.	ENSG00000176903	ENST00000316836	T	0.11169	2.8	4.05	4.05	0.47172	.	0.163359	0.30085	N	0.010444	T	0.24586	0.0596	L	0.49126	1.545	0.34800	D	0.736623	D	0.76494	0.999	D	0.70487	0.969	T	0.13629	-1.0502	10	0.72032	D	0.01	-7.9369	12.0285	0.53384	0.0:1.0:0.0:0.0	.	241	Q8ND90	PNMA1_HUMAN	Q	241	ENSP00000318914:E241Q	ENSP00000318914:E241Q	E	-	1	0	PNMA1	73249375	0.928000	0.31464	0.984000	0.44739	0.891000	0.51852	1.670000	0.37502	2.551000	0.86045	0.655000	0.94253	GAG		0.512	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1		NM_006029		35	132	0	0	0	0.006999	0	35	132		
PNMA1	9240	broad.mit.edu	37	14	74180243	74180243	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:74180243C>T	ENST00000316836.3	-	1	885	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	34					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)		p.E34K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		tcttcgatttcagcctcatca	0.532																																						uc001xor.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(100-102)GAA>AAA		paraneoplastic antigen MA1							106.0	114.0	111.0					14																	74180243		2203	4300	6503	SO:0001583	missense	9240				apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	g.chr14:74180243C>T	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.100G>A	14.37:g.74180243C>T	ENSP00000318914:p.Glu34Lys						p.E34K	NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)	1	886	-			34					A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	ENST00000316836.3	37	c.100G>A	CCDS9818.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654163	0.88056	.	.	ENSG00000176903	ENST00000316836	T	0.15718	2.4	3.8	3.8	0.43715	.	0.000000	0.46758	D	0.000272	T	0.37839	0.1018	M	0.73430	2.235	0.37399	D	0.912786	D	0.71674	0.998	D	0.66979	0.948	T	0.43523	-0.9386	10	0.72032	D	0.01	-17.823	11.4691	0.50257	0.0:1.0:0.0:0.0	.	34	Q8ND90	PNMA1_HUMAN	K	34	ENSP00000318914:E34K	ENSP00000318914:E34K	E	-	1	0	PNMA1	73249996	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.984000	0.49353	2.421000	0.82119	0.655000	0.94253	GAA		0.532	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1		NM_006029		57	171	0	0	0	0.01441	0	57	171		
VRTN	55237	broad.mit.edu	37	14	74824670	74824670	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:74824670C>G	ENST00000256362.4	+	2	1425	c.1184C>G	c.(1183-1185)tCa>tGa	p.S395*		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	395					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.S395*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGGCGGTGTCAAGCCCTGGA	0.607																																						uc001xpw.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(1183-1185)TCA>TGA		hypothetical protein LOC55237							86.0	75.0	79.0					14																	74824670		2203	4300	6503	SO:0001587	stop_gained	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824670C>G	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1184C>G	14.37:g.74824670C>G	ENSP00000256362:p.Ser395*						p.S395*	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	1375	+			395					Q9NVC7	Nonsense_Mutation	SNP	ENST00000256362.4	37	c.1184C>G	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555606	0.65425	.	.	ENSG00000133980	ENST00000256362	.	.	.	5.01	5.01	0.66863	.	0.912565	0.09185	N	0.836947	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-1.8456	15.6157	0.76767	0.0:1.0:0.0:0.0	.	.	.	.	X	395	.	ENSP00000256362:S395X	S	+	2	0	VRTN	73894423	0.253000	0.23982	0.009000	0.14445	0.046000	0.14306	2.941000	0.49011	2.599000	0.87857	0.556000	0.70494	TCA		0.607	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1		NM_018228		9	58	0	0	0	0.004482	0	9	58		
TTLL5	23093	broad.mit.edu	37	14	76249706	76249706	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:76249706C>T	ENST00000298832.9	+	26	3024	c.2819C>T	c.(2818-2820)tCt>tTt	p.S940F	TTLL5_ENST00000556893.1_Missense_Mutation_p.S491F|TTLL5_ENST00000557636.1_Missense_Mutation_p.S954F|TTLL5_ENST00000554510.1_Missense_Mutation_p.S449F	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	940					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.S940F(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AACACAGTCTCTGCCAGTGCT	0.537																																						uc001xrx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(2818-2820)TCT>TTT		tubulin tyrosine ligase-like family, member 5							136.0	104.0	115.0					14																	76249706		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76249706C>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2819C>T	14.37:g.76249706C>T	ENSP00000298832:p.Ser940Phe					TTLL5_uc010ask.1_Missense_Mutation_p.S954F|TTLL5_uc001xrz.2_Missense_Mutation_p.S515F|TTLL5_uc001xsa.2_Missense_Mutation_p.S13F|TTLL5_uc001xry.1_RNA	p.S940F	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	26	3024	+			940					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.2819C>T	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399593	0.62177	.	.	ENSG00000119685	ENST00000418433;ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.25085	3.91;4.0;1.82;1.82	5.84	5.84	0.93424	.	0.961878	0.08683	N	0.909123	T	0.19046	0.0457	N	0.08118	0	0.25134	N	0.990548	P;P;B;B	0.48016	0.824;0.904;0.305;0.024	B;B;B;B	0.43413	0.419;0.342;0.155;0.005	T	0.17899	-1.0354	10	0.72032	D	0.01	.	12.6057	0.56523	0.0:0.9243:0.0:0.0757	.	954;13;491;940	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	F	627;13;954;940;491;491;449	ENSP00000450713:S954F;ENSP00000298832:S940F;ENSP00000452524:S491F;ENSP00000451946:S449F	ENSP00000286653:S13F	S	+	2	0	TTLL5	75319459	0.906000	0.30813	0.967000	0.41034	0.936000	0.57629	4.051000	0.57412	2.763000	0.94921	0.557000	0.71058	TCT		0.537	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1		NM_015072		25	90	0	0	0	0.00333	0	25	90		
TTLL5	23093	broad.mit.edu	37	14	76249833	76249833	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:76249833C>T	ENST00000298832.9	+	26	3151	c.2946C>T	c.(2944-2946)atC>atT	p.I982I	TTLL5_ENST00000556893.1_Silent_p.I533I|TTLL5_ENST00000557636.1_Silent_p.I996I|TTLL5_ENST00000554510.1_Silent_p.I491I	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	982					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.I982I(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTGCACACATCTATAGCCAGA	0.532																																						uc001xrx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(2944-2946)ATC>ATT		tubulin tyrosine ligase-like family, member 5							107.0	89.0	95.0					14																	76249833		2203	4300	6503	SO:0001819	synonymous_variant	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76249833C>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2946C>T	14.37:g.76249833C>T						TTLL5_uc010ask.1_Silent_p.I996I|TTLL5_uc001xrz.2_Silent_p.I557I|TTLL5_uc001xsa.2_Silent_p.I55I|TTLL5_uc001xry.1_RNA	p.I982I	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	26	3151	+			982					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	ENST00000298832.9	37	c.2946C>T	CCDS32124.1																																																																																				0.532	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1		NM_015072		20	109	0	0	0	0.012319	0	20	109		
IRF2BPL	64207	broad.mit.edu	37	14	77492255	77492255	+	Silent	SNP	G	G	C	rs142866521		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:77492255G>C	ENST00000238647.3	-	1	2779	c.1881C>G	c.(1879-1881)ctC>ctG	p.L627L		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	627					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.L627L(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CCACCGACATGAGAGCGGCCA	0.682																																						uc001xsy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1879-1881)CTC>CTG		chromosome 14 open reading frame 4							11.0	12.0	11.0					14																	77492255		2070	4043	6113	SO:0001819	synonymous_variant	64207					nucleus		g.chr14:77492255G>C	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.1881C>G	14.37:g.77492255G>C							p.L627L	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	2780	-			627					Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	c.1881C>G	CCDS9854.1																																																																																				0.682	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1		NM_024496		6	20	0	0	0	0.001168	0	6	20		
SEL1L	6400	broad.mit.edu	37	14	81950592	81950592	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:81950592C>G	ENST00000336735.4	-	19	2139	c.2023G>C	c.(2023-2025)Gag>Cag	p.E675Q		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	675	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E675Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		AGTCCTTTCTCATGCATATAT	0.393																																						uc010tvv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2023-2025)GAG>CAG		sel-1 suppressor of lin-12-like precursor							345.0	339.0	341.0					14																	81950592		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81950592C>G		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.2023G>C	14.37:g.81950592C>G	ENSP00000337053:p.Glu675Gln						p.E675Q	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	19	2140	-			675			Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 11.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.2023G>C	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155694	0.94686	.	.	ENSG00000071537	ENST00000336735;ENST00000261258	T	0.56103	0.48	5.82	5.82	0.92795	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.67702	0.2921	L	0.39326	1.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68488	-0.5395	10	0.87932	D	0	.	20.1178	0.97943	0.0:1.0:0.0:0.0	.	675	Q9UBV2	SE1L1_HUMAN	Q	675;36	ENSP00000337053:E675Q	ENSP00000261258:E36Q	E	-	1	0	SEL1L	81020345	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.379000	0.79691	2.759000	0.94783	0.557000	0.71058	GAG		0.393	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1		NM_005065		147	551	0	0	0	0.01441	0	147	551		
ATG2B	55102	broad.mit.edu	37	14	96807895	96807895	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:96807895G>A	ENST00000359933.4	-	6	1781	c.888C>T	c.(886-888)ctC>ctT	p.L296L		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	296					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.L296L(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GTTTCAACGTGAGACTCAACT	0.393																																						uc001yfi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|kidney(1)|skin(1)	3						c.(886-888)CTC>CTT		ATG2 autophagy related 2 homolog B							140.0	136.0	137.0					14																	96807895		1923	4133	6056	SO:0001819	synonymous_variant	55102							g.chr14:96807895G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.888C>T	14.37:g.96807895G>A							p.L296L	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	6	1253	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	296					Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	c.888C>T	CCDS9944.2																																																																																				0.393	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1		NM_018036		25	94	0	0	0	0.008361	0	25	94		
AK7	122481	broad.mit.edu	37	14	96912857	96912857	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:96912857G>C	ENST00000267584.4	+	8	827	c.783G>C	c.(781-783)gtG>gtC	p.V261V		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	261					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.V261V(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TCTGCAGAGTGATACAAAACG	0.473																																						uc001yfn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(781-783)GTG>GTC		adenylate kinase 7							180.0	144.0	156.0					14																	96912857		2203	4300	6503	SO:0001819	synonymous_variant	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96912857G>C	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.783G>C	14.37:g.96912857G>C							p.V261V	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	8	827	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	261			Potential.		Q8IYP6	Silent	SNP	ENST00000267584.4	37	c.783G>C	CCDS9945.1																																																																																				0.473	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1				25	59	0	0	0	0.007291	0	25	59		
BAG5	9529	broad.mit.edu	37	14	104026370	104026370	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:104026370C>A	ENST00000445922.2	-	2	1378	c.1132G>T	c.(1132-1134)Gag>Tag	p.E378*	RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000299204.4_Nonsense_Mutation_p.E378*|BAG5_ENST00000337322.4_Nonsense_Mutation_p.E419*|APOPT1_ENST00000409074.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA|APOPT1_ENST00000247618.4_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	378	BAG 5. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.E378*(1)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CCCTGGATCTCAGACAAGTTT	0.483																																					NSCLC(171;1832 2055 18950 31566 41632)	uc001yni.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)	2						c.(1132-1134)GAG>TAG		BCL2-associated athanogene 5 isoform b							95.0	105.0	102.0					14																	104026370		2203	4300	6503	SO:0001587	stop_gained	9529				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding	g.chr14:104026370C>A	AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.1132G>T	14.37:g.104026370C>A	ENSP00000391713:p.Glu378*					KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Nonsense_Mutation_p.E419*|BAG5_uc001ynj.1_Nonsense_Mutation_p.E378*|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank	p.E378*	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	Epithelial(46;0.144)		2	1366	-		Melanoma(154;0.155)	378			BAG 5.		O94950|Q86W59	Nonsense_Mutation	SNP	ENST00000445922.2	37	c.1132G>T	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	C	36	5.780265	0.96929	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	.	.	.	5.85	5.85	0.93711	.	0.280592	0.34853	N	0.003628	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-21.0514	15.9105	0.79470	0.0:0.8279:0.1721:0.0	.	.	.	.	X	378;378;419	.	ENSP00000299204:E378X	E	-	1	0	BAG5	103096123	1.000000	0.71417	0.963000	0.40424	0.480000	0.33159	5.739000	0.68622	2.767000	0.95098	0.563000	0.77884	GAG		0.483	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1				39	121	1	0	1.34996e-11	0.009718	1.38734e-11	39	121		
BAG5	9529	broad.mit.edu	37	14	104026577	104026577	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:104026577C>T	ENST00000445922.2	-	2	1171	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000299204.4_Missense_Mutation_p.E309K|BAG5_ENST00000337322.4_Missense_Mutation_p.E350K|APOPT1_ENST00000409074.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA|APOPT1_ENST00000247618.4_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	309	BAG 4. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.E309K(1)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CCCTGCAATTCTGTTTTGGAG	0.408																																					NSCLC(171;1832 2055 18950 31566 41632)	uc001yni.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(925-927)GAA>AAA		BCL2-associated athanogene 5 isoform b							66.0	70.0	69.0					14																	104026577		2203	4300	6503	SO:0001583	missense	9529				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding	g.chr14:104026577C>T	AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.925G>A	14.37:g.104026577C>T	ENSP00000391713:p.Glu309Lys					KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Missense_Mutation_p.E350K|BAG5_uc001ynj.1_Missense_Mutation_p.E309K|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank	p.E309K	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	Epithelial(46;0.144)		2	1159	-		Melanoma(154;0.155)	309			BAG 4.		O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	37	c.925G>A	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017873	0.93404	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	D;D;D	0.89123	-2.47;-2.47;-2.47	5.37	5.37	0.77165	BAG domain (3);	0.115922	0.56097	D	0.000025	D	0.91895	0.7434	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.85130	0.994;0.997	D	0.92900	0.6338	10	0.87932	D	0	-34.2482	19.1275	0.93391	0.0:1.0:0.0:0.0	.	309;350	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	K	309;309;350	ENSP00000299204:E309K;ENSP00000391713:E309K;ENSP00000338814:E350K	ENSP00000299204:E309K	E	-	1	0	BAG5	103096330	1.000000	0.71417	0.975000	0.42487	0.990000	0.78478	7.013000	0.76373	2.531000	0.85337	0.655000	0.94253	GAA		0.408	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1				31	102	0	0	0	0.008361	0	31	102		
APOPT1	84334	broad.mit.edu	37	14	104037964	104037964	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:104037964C>G	ENST00000409074.2	+	2	168	c.167C>G	c.(166-168)tCa>tGa	p.S56*	RP11-73M18.2_ENST00000472726.2_Nonsense_Mutation_p.S56*|APOPT1_ENST00000556253.2_Nonsense_Mutation_p.S43*|APOPT1_ENST00000477116.1_3'UTR|APOPT1_ENST00000247618.4_Nonsense_Mutation_p.S43*	NM_032374.3	NP_115750.2	Q96IL0	APOP1_HUMAN	apoptogenic 1, mitochondrial	56					intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)	mitochondrion (GO:0005739)		p.S43*(1)									TTAAAGGTCTCAAGATTCTGC	0.333																																						uc010tyd.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(127-129)TCA>TGA		kinesin light chain 1 isoform 1							91.0	91.0	91.0					14																	104037964		2203	4300	6503	SO:0001587	stop_gained	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104037964C>G	BC007412	CCDS9983.2	14q32.33	2012-06-28	2012-06-28	2011-09-07	ENSG00000256053	ENSG00000256053			20492	protein-coding gene	gene with protein product	"""apoptogenic protein 1"""		"""chromosome 14 open reading frame 153"", ""apoptogenic 1"""	C14orf153		16782708, 18977203	Standard	NM_032374		Approved	MGC2562, APOP-1		Q96IL0	OTTHUMG00000153929	ENST00000409074.2:c.167C>G	14.37:g.104037964C>G	ENSP00000386485:p.Ser56*					C14orf153_uc001ynl.3_RNA|C14orf153_uc010tyc.1_Nonsense_Mutation_p.S56*	p.S43*	NM_005552	NP_005543	Q07866	KLC1_HUMAN			2	168	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	Error:Variant_position_missing_in_Q07866_after_alignment					Q53G28	Nonsense_Mutation	SNP	ENST00000409074.2	37	c.128C>G	CCDS9983.2	.	.	.	.	.	.	.	.	.	.	c	17.83	3.486340	0.63962	.	.	ENSG00000256053;ENSG00000256053;ENSG00000256500;ENSG00000256500	ENST00000409074;ENST00000495778;ENST00000472726;ENST00000247618	.	.	.	5.36	5.36	0.76844	.	0.084950	0.49305	D	0.000152	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	12.1427	0.54007	0.0:0.9211:0.0:0.0789	.	.	.	.	X	56;18;56;43	.	ENSP00000247618:S43X	S	+	2	0	C14orf153;RP11-73M18.2	103107717	0.063000	0.20901	0.459000	0.27081	0.373000	0.29922	1.582000	0.36568	2.500000	0.84329	0.645000	0.84053	TCA		0.333	APOPT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333060.2		NM_032374		25	107	0	0	0	0.003954	0	25	107		
INF2	64423	broad.mit.edu	37	14	105169764	105169764	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:105169764C>T	ENST00000392634.4	+	4	752	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	INF2_ENST00000330634.7_Missense_Mutation_p.R214C|INF2_ENST00000398337.4_Missense_Mutation_p.R214C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	214	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.		R -> H (in FSGS5). {ECO:0000269|PubMed:20023659}.		actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.R214C(3)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCTGCGCGCGCGCACCCAGCT	0.652																																						uc001ypb.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)		0						c.(640-642)CGC>TGC		inverted formin 2 isoform 1							57.0	64.0	61.0					14																	105169764		2137	4238	6375	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105169764C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.640C>T	14.37:g.105169764C>T	ENSP00000376410:p.Arg214Cys					INF2_uc010tyi.1_Missense_Mutation_p.R214C|INF2_uc001ypc.2_Missense_Mutation_p.R214C|INF2_uc001yoy.3_Missense_Mutation_p.R214C|INF2_uc001ypa.2_Missense_Mutation_p.R214C	p.R214C	NM_022489	NP_071934	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	4	783	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	214		R -> H (in FSGS5).	GBD/FH3.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.640C>T	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	14.48	2.549028	0.45383	.	.	ENSG00000203485	ENST00000330634;ENST00000398337;ENST00000392634	D;D;D	0.96554	-4.05;-4.05;-4.05	4.48	4.48	0.54585	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	1.198010	0.06608	U	0.755072	D	0.98573	0.9523	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95552	0.8621	10	0.87932	D	0	.	12.26	0.54645	0.2172:0.7828:0.0:0.0	.	214;214	Q27J81-2;Q27J81	.;INF2_HUMAN	C	214	ENSP00000376406:R214C;ENSP00000381380:R214C;ENSP00000376410:R214C	ENSP00000252520:R214C	R	+	1	0	INF2	104240809	0.960000	0.32886	0.822000	0.32727	0.037000	0.13140	2.082000	0.41605	2.027000	0.59764	0.313000	0.20887	CGC		0.652	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4		NM_022489		28	130	0	0	0	0.007291	0	28	130		
INF2	64423	broad.mit.edu	37	14	105177451	105177451	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:105177451C>T	ENST00000392634.4	+	15	2458	c.2346C>T	c.(2344-2346)atC>atT	p.I782I	INF2_ENST00000330634.7_Silent_p.I782I	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	782	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.I782I(2)|p.I50I(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GCTTCAAGATCAGCACATTGC	0.667																																						uc001ypb.2		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)		0						c.(2344-2346)ATC>ATT		inverted formin 2 isoform 1							20.0	22.0	21.0					14																	105177451		2069	4201	6270	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105177451C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2346C>T	14.37:g.105177451C>T						INF2_uc010tyi.1_Silent_p.I782I|INF2_uc001ypc.2_Silent_p.I782I|INF2_uc010awz.1_RNA	p.I782I	NM_022489	NP_071934	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	15	2489	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	782			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.2346C>T	CCDS9989.2																																																																																				0.667	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4		NM_022489		3	7	0	0	0	0.009096	0	3	7		
CASC5	57082	broad.mit.edu	37	15	40920870	40920870	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:40920870G>C	ENST00000346991.5	+	13	6045	c.5655G>C	c.(5653-5655)ttG>ttC	p.L1885F	CASC5_ENST00000399668.2_Missense_Mutation_p.L1859F			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1885	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L1885F(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAGAGAGCTTGAGGGAGGTAT	0.308																																						uc010bbs.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(3)|central_nervous_system(1)|skin(1)	5						c.(5653-5655)TTG>TTC		cancer susceptibility candidate 5 isoform 1							113.0	97.0	102.0					15																	40920870		1799	4073	5872	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40920870G>C	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5655G>C	15.37:g.40920870G>C	ENSP00000335463:p.Leu1885Phe					CASC5_uc010bbt.1_Missense_Mutation_p.L1859F	p.L1885F	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	13	5816	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1885			Necessary for kinetochore localization and for interaction with NSL1 and DSN1.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.5655G>C	CCDS42023.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.82|17.82	3.483763|3.483763	0.63962|0.63962	.|.	.|.	ENSG00000137812|ENSG00000137812	ENST00000346991;ENST00000399668|ENST00000532406	T;T|.	0.07216|.	3.21;3.21|.	5.75|5.75	2.75|2.75	0.32379|0.32379	.|.	0.111235|.	0.37219|.	N|.	0.002196|.	T|.	0.43500|.	0.1250|.	M|M	0.62723|0.62723	1.935|1.935	0.27228|0.27228	N|N	0.959473|0.959473	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|.	0.34329|.	-0.9833|.	10|.	0.37606|.	T|.	0.19|.	.|.	5.5756|5.5756	0.17220|0.17220	0.2891:0.0:0.5867:0.1242|0.2891:0.0:0.5867:0.1242	.|.	1859;1885|.	Q8NG31-2;Q8NG31|.	.;CASC5_HUMAN|.	F|S	1885;1859|66	ENSP00000335463:L1885F;ENSP00000382576:L1859F|.	ENSP00000335463:L1885F|.	L|X	+|+	3|2	2|2	CASC5|CASC5	38708162|38708162	0.987000|0.987000	0.35691|0.35691	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	0.377000|0.377000	0.20552|0.20552	0.733000|0.733000	0.32492|0.32492	0.551000|0.551000	0.68910|0.68910	TTG|TGA		0.308	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2		NM_144508		12	91	0	0	0	0.013537	0	12	91		
DLL4	54567	broad.mit.edu	37	15	41229093	41229093	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:41229093G>C	ENST00000249749.5	+	9	2184	c.1908G>C	c.(1906-1908)aaG>aaC	p.K636N		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	636					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.K636N(1)		breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACAGTGACAAGAGCTTAGGAG	0.612																																						uc001zng.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)	2						c.(1906-1908)AAG>AAC		delta-like 4 protein precursor							19.0	21.0	21.0					15																	41229093		1923	4112	6035	SO:0001583	missense	54567				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	g.chr15:41229093G>C	AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1908G>C	15.37:g.41229093G>C	ENSP00000249749:p.Lys636Asn						p.K636N	NM_019074	NP_061947	Q9NR61	DLL4_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	9	2228	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	636			Cytoplasmic (Potential).		Q3KP23|Q9NQT9	Missense_Mutation	SNP	ENST00000249749.5	37	c.1908G>C	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057559	0.55325	.	.	ENSG00000128917	ENST00000249749	D	0.88431	-2.38	5.47	4.53	0.55603	.	0.098626	0.64402	D	0.000001	D	0.91253	0.7243	L	0.49350	1.555	0.46131	D	0.998888	D	0.89917	1.0	D	0.85130	0.997	D	0.89516	0.3775	10	0.34782	T	0.22	.	9.8864	0.41264	0.1596:0.0:0.8404:0.0	.	636	Q9NR61	DLL4_HUMAN	N	636	ENSP00000249749:K636N	ENSP00000249749:K636N	K	+	3	2	DLL4	39016385	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.293000	0.43558	1.477000	0.48234	0.650000	0.86243	AAG		0.612	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1				8	25	0	0	0	0.006214	0	8	25		
VPS39	23339	broad.mit.edu	37	15	42462051	42462051	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:42462051C>T	ENST00000348544.4	-	13	1136	c.1137G>A	c.(1135-1137)gtG>gtA	p.V379V	VPS39_ENST00000318006.5_Silent_p.V368V			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	379					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)	p.V368V(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACAGGCCCATCACATGGGTGG	0.468																																						uc001zpd.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1135-1137)GTG>GTA		vacuolar protein sorting 39							92.0	90.0	91.0					15																	42462051		2203	4299	6502	SO:0001819	synonymous_variant	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42462051C>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1137G>A	15.37:g.42462051C>T						VPS39_uc001zpc.2_Silent_p.V368V	p.V379V	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	13	1288	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	379					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	c.1137G>A	CCDS10083.1																																																																																				0.468	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1		NM_015289		32	108	0	0	0	0.00623	0	32	108		
GANC	2595	broad.mit.edu	37	15	42568597	42568597	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:42568597C>T	ENST00000318010.8	+	2	321	c.81C>T	c.(79-81)atC>atT	p.I27I	GANC_ENST00000440615.2_Silent_p.I27I|TMEM87A_ENST00000307216.6_5'Flank|TMEM87A_ENST00000389834.4_5'Flank|TMEM87A_ENST00000448392.1_5'Flank|GANC_ENST00000566442.1_Silent_p.I27I	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	27					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.I27I(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GTAACAAGATCGCATTTTACA	0.294																																						uc001zpi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(79-81)ATC>ATT		glucosidase, alpha; neutral C							39.0	42.0	41.0					15																	42568597		2203	4297	6500	SO:0001819	synonymous_variant	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42568597C>T	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.81C>T	15.37:g.42568597C>T						GANC_uc001zph.2_Silent_p.I27I|GANC_uc001zpj.1_5'UTR|TMEM87A_uc010udd.1_5'Flank|TMEM87A_uc001zpf.3_5'Flank|TMEM87A_uc010bcu.1_5'Flank|TMEM87A_uc001zpg.2_5'Flank|GANC_uc010ude.1_Silent_p.I27I	p.I27I	NM_198141	NP_937784	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	2	395	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	27					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	ENST00000318010.8	37	c.81C>T	CCDS10084.1																																																																																				0.294	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2		NM_198141		3	31	0	0	0	0.004672	0	3	31		
PPIP5K1	9677	broad.mit.edu	37	15	43873500	43873500	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:43873500C>T	ENST00000396923.3	-	8	985	c.864G>A	c.(862-864)ggG>ggA	p.G288G	PPIP5K1_ENST00000360135.4_Silent_p.G288G|PPIP5K1_ENST00000381879.4_Silent_p.G288G|PPIP5K1_ENST00000381885.1_Silent_p.G288G|PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000420765.1_Silent_p.G288G|PPIP5K1_ENST00000348806.6_Silent_p.G288G|PPIP5K1_ENST00000360301.4_Silent_p.G288G|PPIP5K1_ENST00000334933.4_Silent_p.G288G			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	288					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.G288G(1)		large_intestine(1)	1						GAATCTCTTTCCCCTCACTGT	0.512																																						uc001zrw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(862-864)GGG>GGA		histidine acid phosphatase domain containing 2A							172.0	148.0	156.0					15																	43873500		2198	4296	6494	SO:0001819	synonymous_variant	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43873500C>T	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.864G>A	15.37:g.43873500C>T						PPIP5K1_uc001zrx.1_Silent_p.G288G|PPIP5K1_uc001zru.2_Silent_p.G288G|PPIP5K1_uc001zry.3_Silent_p.G288G|PPIP5K1_uc001zrv.2_Silent_p.G288G|PPIP5K1_uc001zrz.1_Silent_p.G288G|PPIP5K1_uc010udr.1_Silent_p.G288G	p.G288G	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN			9	1047	-			288					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Silent	SNP	ENST00000396923.3	37	c.864G>A	CCDS45252.1																																																																																				0.512	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1		NM_014659		52	259	0	0	0	0.01441	0	52	259		
TMOD2	29767	broad.mit.edu	37	15	52069173	52069173	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:52069173G>A	ENST00000249700.4	+	5	672	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	TMOD2_ENST00000539962.2_Missense_Mutation_p.E107K|TMOD2_ENST00000435126.2_Missense_Mutation_p.E151K	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	151					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)	p.E151K(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		AAAGTTCGATGAAGAAACAGC	0.418																																						uc002abk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(451-453)GAA>AAA		neuronal tropomodulin isoform a							157.0	135.0	143.0					15																	52069173		2195	4293	6488	SO:0001583	missense	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52069173G>A	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.451G>A	15.37:g.52069173G>A	ENSP00000249700:p.Glu151Lys					TMOD2_uc002abl.3_Missense_Mutation_p.E151K|TMOD2_uc010bfb.2_Missense_Mutation_p.E107K	p.E151K	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	5	672	+			151					B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	c.451G>A	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588701	0.28357	.	.	ENSG00000128872	ENST00000435126;ENST00000249700;ENST00000539962	T;T;T	0.14516	2.51;2.5;2.5	5.64	5.64	0.86602	.	0.057335	0.64402	D	0.000002	T	0.09158	0.0226	N	0.08118	0	0.53005	D	0.999961	B;B	0.28512	0.214;0.136	B;B	0.29077	0.098;0.071	T	0.37454	-0.9705	10	0.16420	T	0.52	-25.7738	19.8946	0.96949	0.0:0.0:1.0:0.0	.	151;151	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	K	151;151;107	ENSP00000404590:E151K;ENSP00000249700:E151K;ENSP00000437743:E107K	ENSP00000249700:E151K	E	+	1	0	TMOD2	49856465	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	6.129000	0.71657	2.937000	0.99478	0.650000	0.86243	GAA		0.418	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2				23	59	0	0	0	0.004656	0	23	59		
WDR72	256764	broad.mit.edu	37	15	53908309	53908309	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:53908309G>C	ENST00000396328.1	-	15	2333	c.2094C>G	c.(2092-2094)ctC>ctG	p.L698L	WDR72_ENST00000557913.1_Silent_p.L695L|WDR72_ENST00000559418.1_Silent_p.L708L|WDR72_ENST00000360509.5_Silent_p.L698L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	698								p.L698L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CAACATCACTGAGTGGAGTTG	0.408																																						uc002acj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)|skin(1)	2						c.(2092-2094)CTC>CTG		WD repeat domain 72							90.0	82.0	85.0					15																	53908309		2194	4292	6486	SO:0001819	synonymous_variant	256764							g.chr15:53908309G>C	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2094C>G	15.37:g.53908309G>C						WDR72_uc010bfi.1_Silent_p.L698L	p.L698L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2136	-			698					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.2094C>G	CCDS10151.1																																																																																				0.408	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2		NM_182758		9	83	0	0	0	0.004482	0	9	83		
NEDD4	4734	broad.mit.edu	37	15	56130727	56130727	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:56130727C>T	ENST00000508342.1	-	18	3663	c.3364G>A	c.(3364-3366)Gat>Aat	p.D1122N	NEDD4_ENST00000435532.3_Missense_Mutation_p.D703N|NEDD4_ENST00000506154.1_Missense_Mutation_p.D1106N|NEDD4_ENST00000338963.2_Missense_Mutation_p.D1050N	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1122	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.D1050N(1)|p.D703N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGTTCTTCATCTATGATAAAC	0.308																																						uc002adj.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(2)|ovary(1)|breast(1)	4						c.(3364-3366)GAT>AAT		neural precursor cell expressed, developmentally							88.0	88.0	88.0					15																	56130727		2192	4290	6482	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56130727C>T	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3364G>A	15.37:g.56130727C>T	ENSP00000424827:p.Asp1122Asn					NEDD4_uc002adl.2_Missense_Mutation_p.D703N|NEDD4_uc002adi.2_Missense_Mutation_p.D1050N|NEDD4_uc010ugj.1_Missense_Mutation_p.D1106N|NEDD4_uc010bfm.2_Missense_Mutation_p.D1105N|NEDD4_uc002adk.2_RNA	p.D1122N	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	18	3664	-			1122			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3364G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.364129	0.95877	.	.	ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.69	5.69	0.88448	HECT (4);	0.000000	0.85682	D	0.000000	T	0.74635	0.3742	M	0.78285	2.405	0.80722	D	1	D;P;P;P	0.76494	0.999;0.716;0.697;0.648	D;B;P;B	0.77004	0.989;0.27;0.555;0.419	T	0.77078	-0.2721	10	0.87932	D	0	.	18.7994	0.92010	0.0:1.0:0.0:0.0	.	1106;703;1122;1050	P46934-2;P46934-4;P46934;P46934-3	.;.;NEDD4_HUMAN;.	N	1122;703;1050;1106	ENSP00000424827:D1122N;ENSP00000410613:D703N;ENSP00000345530:D1050N;ENSP00000422705:D1106N	ENSP00000345530:D1050N	D	-	1	0	NEDD4	53918019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.673000	0.90976	0.650000	0.86243	GAT		0.308	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1		NM_198400		21	66	0	0	0	0.005443	0	21	66		
SPG21	51324	broad.mit.edu	37	15	65255979	65255979	+	Silent	SNP	G	G	A	rs367966974		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:65255979G>A	ENST00000204566.2	-	9	1204	c.909C>T	c.(907-909)atC>atT	p.I303I	SPG21_ENST00000433215.2_Silent_p.I303I|SPG21_ENST00000416889.2_Silent_p.I276I|SPG21_ENST00000559199.1_Silent_p.I149I	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	303					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)	p.I303I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CCTCCTGGCTGATGCCAAGGC	0.527																																						uc002aod.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(907-909)ATC>ATT		spastic paraplegia 21 isoform a		G	,,	0,4404		0,0,2202	158.0	133.0	142.0		909,828,909	3.9	0.1	15		142	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	SPG21	NM_001127889.1,NM_001127890.1,NM_016630.3	,,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,,	303/309,276/282,303/309	65255979	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	51324				cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding	g.chr15:65255979G>A	AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"""maspardin"""	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.909C>T	15.37:g.65255979G>A						SPG21_uc002aoe.2_Silent_p.I303I|SPG21_uc010bhb.2_Silent_p.I276I|SPG21_uc010bhc.2_Silent_p.I149I	p.I303I	NM_001127889	NP_001121361	Q9NZD8	SPG21_HUMAN			9	1002	-			303					B4DW44|Q6ZMB6	Silent	SNP	ENST00000204566.2	37	c.909C>T	CCDS10198.1																																																																																				0.527	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3		NM_016630		48	124	0	0	0	0.01441	0	48	124		
VWA9	81556	broad.mit.edu	37	15	65871820	65871820	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:65871820C>G	ENST00000395644.4	-	12	1818	c.1483G>C	c.(1483-1485)Gag>Cag	p.E495Q	VWA9_ENST00000420799.2_Missense_Mutation_p.E438Q|VWA9_ENST00000442903.3_Missense_Mutation_p.E459Q|VWA9_ENST00000313182.2_Missense_Mutation_p.E495Q|VWA9_ENST00000569491.1_Missense_Mutation_p.E445Q|VWA9_ENST00000567744.1_Missense_Mutation_p.E531Q|VWA9_ENST00000431261.2_Missense_Mutation_p.E416Q			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	495								p.E495Q(1)									GCGGCATACTCAGAGGTGCCG	0.532																																						uc002apd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1483-1485)GAG>CAG		hypothetical protein LOC81556 isoform 2							104.0	96.0	99.0					15																	65871820		2201	4299	6500	SO:0001583	missense	81556							g.chr15:65871820C>G	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1483G>C	15.37:g.65871820C>G	ENSP00000379006:p.Glu495Gln					C15orf44_uc010uix.1_Missense_Mutation_p.E531Q|C15orf44_uc010uiz.1_Missense_Mutation_p.E459Q|C15orf44_uc010uja.1_Missense_Mutation_p.E445Q|C15orf44_uc010ujb.1_Missense_Mutation_p.E416Q|C15orf44_uc002ape.3_Missense_Mutation_p.E495Q|C15orf44_uc010uiy.1_Missense_Mutation_p.E416Q	p.E495Q	NM_030800	NP_110427	Q96SY0	CO044_HUMAN			12	1819	-			495					B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37	c.1483G>C		.	.	.	.	.	.	.	.	.	.	C	13.61	2.289019	0.40494	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.81	5.81	0.92471	.	0.196490	0.53938	D	0.000048	T	0.35595	0.0937	N	0.02011	-0.69	0.51767	D	0.999932	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.19160	-1.0314	9	0.33141	T	0.24	-19.6962	20.0749	0.97738	0.0:1.0:0.0:0.0	.	445;459;531;495	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	Q	495;495;416;438;459	.	ENSP00000326379:E495Q	E	-	1	0	C15orf44	63658873	1.000000	0.71417	0.877000	0.34402	0.580000	0.36256	4.816000	0.62642	2.759000	0.94783	0.591000	0.81541	GAG		0.532	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3		NM_030800		38	127	0	0	0	0.004878	0	38	127		
HCN4	10021	broad.mit.edu	37	15	73660074	73660074	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:73660074C>T	ENST00000261917.3	-	1	1531	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	180					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.E180K(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GAGGGCTGCTCGCAGGAGGCG	0.786																																						uc002avp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|liver(1)	6						c.(538-540)GAG>AAG		hyperpolarization activated cyclic							5.0	6.0	6.0					15																	73660074		1919	3903	5822	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73660074C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.538G>A	15.37:g.73660074C>T	ENSP00000261917:p.Glu180Lys						p.E180K	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	1	1532	-			180			Cytoplasmic (Potential).		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.538G>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807996	0.50421	.	.	ENSG00000138622	ENST00000261917	D	0.97303	-4.33	3.18	2.24	0.28232	.	.	.	.	.	D	0.88074	0.6339	N	0.14661	0.345	0.28661	N	0.906142	P	0.39665	0.682	B	0.26094	0.066	D	0.84095	0.0392	9	0.06236	T	0.91	.	7.7046	0.28642	0.0:0.8676:0.0:0.1324	.	180	Q9Y3Q4	HCN4_HUMAN	K	180	ENSP00000261917:E180K	ENSP00000261917:E180K	E	-	1	0	HCN4	71447127	.	.	0.999000	0.59377	0.954000	0.61252	.	.	1.764000	0.52075	0.549000	0.68633	GAG		0.786	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2		NM_005477		5	12	0	0	0	0.000602	0	5	12		
TM6SF1	53346	broad.mit.edu	37	15	83776476	83776476	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:83776476C>G	ENST00000322019.9	+	1	318	c.44C>G	c.(43-45)tCg>tGg	p.S15W	TM6SF1_ENST00000379390.6_Missense_Mutation_p.S15W|TM6SF1_ENST00000565774.1_Missense_Mutation_p.S15W|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379386.4_Missense_Mutation_p.S15W			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	15						integral component of membrane (GO:0016021)		p.S15W(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGTCCCTCTCGGCCATCCCG	0.736																																						uc002bjp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(43-45)TCG>TGG		transmembrane 6 superfamily member 1 isoform 1							29.0	27.0	27.0					15																	83776476		2200	4300	6500	SO:0001583	missense	53346					integral to membrane		g.chr15:83776476C>G	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.44C>G	15.37:g.83776476C>G	ENSP00000317000:p.Ser15Trp					TM6SF1_uc010bmq.2_Missense_Mutation_p.S15W|TM6SF1_uc002bjq.2_Missense_Mutation_p.S15W|TM6SF1_uc010bmr.2_RNA	p.S15W	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN			1	153	+			15			Helical; (Potential).		A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	ENST00000322019.9	37	c.44C>G	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.462998	0.63513	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384;ENST00000379390;ENST00000258909	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	3.12	2.19	0.27852	.	0.244473	0.31847	U	0.006973	T	0.34571	0.0902	L	0.29908	0.895	0.43852	D	0.996443	P;D;P	0.62365	0.888;0.991;0.888	B;P;P	0.54174	0.277;0.744;0.466	T	0.07790	-1.0754	10	0.66056	D	0.02	-5.543	7.7752	0.29033	0.0:0.8663:0.0:0.1337	.	15;15;15	E9PD04;Q6P4D7;Q9BZW5	.;.;TM6S1_HUMAN	W	15	ENSP00000317000:S15W;ENSP00000368696:S15W;ENSP00000368693:S15W;ENSP00000368700:S15W;ENSP00000258909:S15W	ENSP00000258909:S15W	S	+	2	0	TM6SF1	81567480	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	3.405000	0.52630	0.318000	0.23185	0.306000	0.20318	TCG		0.736	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1		NM_023003		5	25	0	0	0	0.000602	0	5	25		
ACAN	176	broad.mit.edu	37	15	89398115	89398115	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:89398115G>A	ENST00000561243.1	+	11	2299	c.2299G>A	c.(2299-2301)Gca>Aca	p.A767T	ACAN_ENST00000439576.2_Missense_Mutation_p.A767T|ACAN_ENST00000559004.1_Missense_Mutation_p.A767T|ACAN_ENST00000352105.7_Missense_Mutation_p.A767T			P16112	PGCA_HUMAN	aggrecan	766	KS.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.A767T(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CACTGGCGCAGCAACAGAGGA	0.522																																						uc010upo.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|central_nervous_system(1)	3						c.(2299-2301)GCA>ACA		aggrecan isoform 2 precursor							23.0	24.0	24.0					15																	89398115		1920	4120	6040	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398115G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2299G>A	15.37:g.89398115G>A	ENSP00000453342:p.Ala767Thr					ACAN_uc010upp.1_Missense_Mutation_p.A767T|ACAN_uc002bna.2_RNA	p.A767T	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	2673	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		767					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2299G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	9.740	1.164585	0.21538	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02197	4.64;4.4	5.53	0.216	0.15258	.	1.073720	0.07494	N	0.906183	T	0.01421	0.0046	N	0.14661	0.345	0.09310	N	1	B;B	0.26120	0.142;0.142	B;B	0.21917	0.037;0.021	T	0.49725	-0.8909	10	0.15952	T	0.53	-4.5839	4.2006	0.10464	0.3699:0.1652:0.4649:0.0	.	767;767	E7ENV9;E7EX88	.;.	T	767	ENSP00000387356:A767T;ENSP00000341615:A767T	ENSP00000268134:A767T	A	+	1	0	ACAN	87199119	0.035000	0.19736	0.052000	0.19188	0.115000	0.19883	-0.115000	0.10741	0.156000	0.19299	-0.150000	0.13652	GCA		0.522	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135		3	19	0	0	0	0.004672	0	3	19		
CRTC3	64784	broad.mit.edu	37	15	91083274	91083274	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:91083274C>G	ENST00000268184.6	+	2	140	c.136C>G	c.(136-138)Caa>Gaa	p.Q46E	CRTC3_ENST00000420329.2_Missense_Mutation_p.Q46E|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000560098.1_Missense_Mutation_p.Q46E			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	46	Required for interaction with HTLV-1 TAX.				energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.Q46E(1)	CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TTTCCAGGTTCAATTTCAGAA	0.443			T	MAML2	salivary gland mucoepidermoid																																	uc002bpp.2		NaN		Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	1	Substitution - Missense(1)		urinary_tract(1)	salivary_gland(26)|ovary(1)	27						c.(136-138)CAA>GAA		transducer of regulated CREB protein 3 isoform							101.0	92.0	95.0					15																	91083274		2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91083274C>G		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.136C>G	15.37:g.91083274C>G	ENSP00000268184:p.Gln46Glu					CRTC3_uc002bpn.2_Missense_Mutation_p.Q46E|CRTC3_uc002bpo.2_Missense_Mutation_p.Q46E	p.Q46E	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		2	242	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		46			Required for interaction with HTLV-1 TAX.		Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.136C>G	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410757	0.62399	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.14640	2.49;2.5	5.24	5.24	0.73138	Transducer of regulated CREB activity, N-terminal (1);	0.134564	0.51477	D	0.000099	T	0.31670	0.0804	L	0.56280	1.765	0.80722	D	1	P;P;D	0.64830	0.583;0.528;0.994	B;B;D	0.65773	0.422;0.297;0.938	T	0.00338	-1.1806	10	0.48119	T	0.1	-11.0953	16.3667	0.83331	0.0:1.0:0.0:0.0	.	46;46;10	Q6UUV7;Q6UUV7-3;F8W842	CRTC3_HUMAN;.;.	E	10;46;46	ENSP00000268184:Q46E;ENSP00000416573:Q46E	ENSP00000268184:Q46E	Q	+	1	0	CRTC3	88884278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.432000	0.52824	2.726000	0.93360	0.655000	0.94253	CAA		0.443	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2		NM_022769		25	48	0	0	0	0.004656	0	25	48		
FURIN	5045	broad.mit.edu	37	15	91424753	91424753	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:91424753G>A	ENST00000268171.3	+	16	2309	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q	FES_ENST00000414248.2_5'Flank|FES_ENST00000394302.1_5'Flank|FES_ENST00000328850.3_5'Flank	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	677					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.R677Q(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)			ACTTGCTCCCGGCAAAGCCAG	0.716																																						uc002bpu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(4)|lung(2)|breast(1)	7						c.(2029-2031)CGG>CAG		furin preproprotein							17.0	20.0	19.0					15																	91424753		2196	4291	6487	SO:0001583	missense	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91424753G>A	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.2030G>A	15.37:g.91424753G>A	ENSP00000268171:p.Arg677Gln					FES_uc010uqj.1_5'Flank|FES_uc010uqk.1_5'Flank|FES_uc002bpw.2_5'Flank|FES_uc002bpv.2_5'Flank	p.R677Q	NM_002569	NP_002560	P09958	FURIN_HUMAN	Lung(145;0.189)		16	2246	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		677			Cys-rich.		Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	c.2030G>A	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	G	8.397	0.841156	0.16891	.	.	ENSG00000140564	ENST00000268171	T	0.68765	-0.35	5.02	3.98	0.46160	.	0.107665	0.64402	D	0.000008	T	0.27765	0.0683	N	0.00960	-1.095	0.36734	D	0.881872	B	0.12013	0.005	B	0.04013	0.001	T	0.33214	-0.9877	10	0.12430	T	0.62	-30.6088	3.3326	0.07089	0.4039:0.0:0.5961:0.0	.	677	P09958	FURIN_HUMAN	Q	677	ENSP00000268171:R677Q	ENSP00000268171:R677Q	R	+	2	0	FURIN	89225757	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.862000	0.56009	2.337000	0.79520	0.555000	0.69702	CGG		0.716	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1		NM_002569		4	22	0	0	0	0.000602	0	4	22		
MAPK8IP3	23162	broad.mit.edu	37	16	1756554	1756554	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:1756554G>A	ENST00000250894.4	+	1	371	c.214G>A	c.(214-216)Gag>Aag	p.E72K	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E72K	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	72					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.E72K(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGTGCTCAGCGAGAACCAGGA	0.637																																						uc002cmk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|central_nervous_system(1)	3						c.(214-216)GAG>AAG		mitogen-activated protein kinase 8 interacting							53.0	51.0	52.0					16																	1756554		2199	4300	6499	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1756554G>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.214G>A	16.37:g.1756554G>A	ENSP00000250894:p.Glu72Lys					MAPK8IP3_uc002cmi.1_Missense_Mutation_p.E72K|MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Missense_Mutation_p.E72K|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.E72K	p.E72K	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			1	334	+			72			Potential.		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.214G>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336384	0.60963	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.46451	3.5;0.87	3.67	3.67	0.42095	JNK/Rab-associated protein-1, N-terminal (1);	0.066197	0.64402	D	0.000013	T	0.44138	0.1279	L	0.45581	1.43	0.80722	D	1	P;P;P;P	0.51057	0.508;0.897;0.941;0.89	B;P;P;B	0.48334	0.311;0.574;0.574;0.124	T	0.44605	-0.9317	10	0.42905	T	0.14	-22.0987	15.1441	0.72637	0.0:0.0:1.0:0.0	.	72;72;72;72	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	K	72	ENSP00000250894:E72K;ENSP00000348290:E72K	ENSP00000250894:E72K	E	+	1	0	MAPK8IP3	1696555	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.200000	0.95010	1.874000	0.54306	0.185000	0.17295	GAG		0.637	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2		NM_001040439		11	23	0	0	0	0.013537	0	11	23		
PKD1	5310	broad.mit.edu	37	16	2159441	2159441	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:2159441G>A	ENST00000262304.4	-	15	5935	c.5727C>T	c.(5725-5727)atC>atT	p.I1909I	PKD1_ENST00000423118.1_Silent_p.I1909I|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1909	PKD 15. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.I1909I(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGCCAGCAGGATCTGAAAAT	0.701																																						uc002cos.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)|skin(1)	3						c.(5725-5727)ATC>ATT		polycystin 1 isoform 1 precursor							11.0	13.0	13.0					16																	2159441		2148	4258	6406	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2159441G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5727C>T	16.37:g.2159441G>A						PKD1_uc002cot.1_Silent_p.I1909I	p.I1909I	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	5936	-			1909			Extracellular (Potential).|PKD 15.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.5727C>T	CCDS32369.1																																																																																				0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1				6	23	0	0	0	0.004482	0	6	23		
AMDHD2	51005	broad.mit.edu	37	16	2570863	2570863	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:2570863G>A	ENST00000293971.6	+	2	271	c.177G>A	c.(175-177)ggG>ggA	p.G59G	AMDHD2_ENST00000302956.4_Silent_p.G59G|AMDHD2_ENST00000413459.3_Silent_p.G59G|ATP6C_ENST00000569317.1_Intron	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	59					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)	p.G59G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GGGACTGCGGGGGCCGCATCT	0.687																																						uc002cqq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|large_intestine(1)|breast(1)	4						c.(175-177)GGG>GGA		amidohydrolase domain containing 2 isoform 1							22.0	30.0	27.0					16																	2570863		2195	4294	6489	SO:0001819	synonymous_variant	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2570863G>A	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.177G>A	16.37:g.2570863G>A						AMDHD2_uc002cqp.2_Silent_p.G59G|AMDHD2_uc010uwc.1_Silent_p.G59G|AMDHD2_uc010uwd.1_Intron	p.G59G	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN			2	274	+			59					B4DL77|Q8WV54	Silent	SNP	ENST00000293971.6	37	c.177G>A																																																																																					0.687	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1		NM_015944		4	33	0	0	0	0.00308	0	4	33		
ZNF200	7752	broad.mit.edu	37	16	3273910	3273910	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3273910C>G	ENST00000431561.3	-	5	1782	c.1170G>C	c.(1168-1170)aaG>aaC	p.K390N	ZNF200_ENST00000414144.2_Missense_Mutation_p.K390N|ZNF200_ENST00000575948.1_Missense_Mutation_p.K389N|ZNF200_ENST00000396870.4_Missense_Mutation_p.K389N|ZNF200_ENST00000396871.4_Missense_Mutation_p.K389N|ZNF200_ENST00000396868.3_Missense_Mutation_p.K389N|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	390					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.K390N(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						GCTTTCGGGTCTTACAGGCTG	0.483																																						uc002cuj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1168-1170)AAG>AAC		zinc finger protein 200 isoform 1							185.0	197.0	193.0					16																	3273910		2197	4300	6497	SO:0001583	missense	7752				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr16:3273910C>G	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.1170G>C	16.37:g.3273910C>G	ENSP00000395723:p.Lys390Asn					ZNF200_uc002cum.3_Missense_Mutation_p.K389N|ZNF200_uc010bti.2_Missense_Mutation_p.K389N|ZNF200_uc002cuk.2_Missense_Mutation_p.K390N|ZNF200_uc002cui.2_Missense_Mutation_p.K389N|ZNF200_uc002cul.3_Missense_Mutation_p.K389N	p.K390N	NM_003454	NP_003445	P98182	ZN200_HUMAN			5	1802	-			390					D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	ENST00000431561.3	37	c.1170G>C	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	C	9.818	1.185102	0.21870	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T	0.07567	3.19;3.18;3.26	5.42	2.26	0.28386	Zinc finger, C2H2 (1);	0.170572	0.27981	N	0.017077	T	0.09598	0.0236	L	0.52011	1.625	0.24510	N	0.994214	P;P;D	0.53462	0.933;0.933;0.96	B;B;P	0.45829	0.299;0.299;0.494	T	0.13818	-1.0495	10	0.87932	D	0	-13.208	6.2083	0.20615	0.0:0.6889:0.0:0.3111	.	389;390;389	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	N	390;389;389;389;390	ENSP00000380077:K389N;ENSP00000380080:K389N;ENSP00000395723:K390N	ENSP00000380077:K389N	K	-	3	2	ZNF200	3213911	0.000000	0.05858	0.920000	0.36463	0.845000	0.48019	0.322000	0.19576	0.856000	0.35383	0.557000	0.71058	AAG		0.483	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1				50	307	0	0	0	0.01441	0	50	307		
ZNF200	7752	broad.mit.edu	37	16	3273931	3273931	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3273931C>G	ENST00000431561.3	-	5	1761	c.1149G>C	c.(1147-1149)gaG>gaC	p.E383D	ZNF200_ENST00000414144.2_Missense_Mutation_p.E383D|ZNF200_ENST00000575948.1_Missense_Mutation_p.E382D|ZNF200_ENST00000396870.4_Missense_Mutation_p.E382D|ZNF200_ENST00000396871.4_Missense_Mutation_p.E382D|ZNF200_ENST00000396868.3_Missense_Mutation_p.E382D|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E383D(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						AGTGGGTTTTCTCATGCCGGG	0.478																																						uc002cuj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1147-1149)GAG>GAC		zinc finger protein 200 isoform 1							220.0	233.0	229.0					16																	3273931		2197	4300	6497	SO:0001583	missense	7752				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr16:3273931C>G	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.1149G>C	16.37:g.3273931C>G	ENSP00000395723:p.Glu383Asp					ZNF200_uc002cum.3_Missense_Mutation_p.E382D|ZNF200_uc010bti.2_Missense_Mutation_p.E382D|ZNF200_uc002cuk.2_Missense_Mutation_p.E383D|ZNF200_uc002cui.2_Missense_Mutation_p.E382D|ZNF200_uc002cul.3_Missense_Mutation_p.E382D	p.E383D	NM_003454	NP_003445	P98182	ZN200_HUMAN			5	1781	-			383			C2H2-type 5.		D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	ENST00000431561.3	37	c.1149G>C	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953249	0.53293	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T	0.29397	1.57;1.57;1.57	5.31	0.737	0.18314	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40818	N	0.001003	T	0.45796	0.1360	M	0.75085	2.285	0.22531	N	0.999018	D;D;D	0.67145	0.993;0.993;0.996	P;P;P	0.61874	0.787;0.787;0.895	T	0.26155	-1.0111	10	0.51188	T	0.08	-12.7207	8.2241	0.31558	0.0:0.5702:0.0:0.4298	.	382;383;382	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	D	383;382;382;382;383	ENSP00000380077:E382D;ENSP00000380080:E382D;ENSP00000395723:E383D	ENSP00000380077:E382D	E	-	3	2	ZNF200	3213932	0.000000	0.05858	0.998000	0.56505	0.993000	0.82548	0.079000	0.14782	0.282000	0.22254	0.557000	0.71058	GAG		0.478	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1				44	351	0	0	0	0.01441	0	44	351		
ZNF200	7752	broad.mit.edu	37	16	3273959	3273959	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3273959C>G	ENST00000431561.3	-	5	1733	c.1121G>C	c.(1120-1122)gGt>gCt	p.G374A	ZNF200_ENST00000414144.2_Missense_Mutation_p.G374A|ZNF200_ENST00000575948.1_Missense_Mutation_p.G373A|ZNF200_ENST00000396870.4_Missense_Mutation_p.G373A|ZNF200_ENST00000396871.4_Missense_Mutation_p.G373A|ZNF200_ENST00000396868.3_Missense_Mutation_p.G373A|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G374A(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TGACAGCCGACCAAATCTTCT	0.483																																						uc002cuj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1120-1122)GGT>GCT		zinc finger protein 200 isoform 1							250.0	268.0	262.0					16																	3273959		2197	4300	6497	SO:0001583	missense	7752				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr16:3273959C>G	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.1121G>C	16.37:g.3273959C>G	ENSP00000395723:p.Gly374Ala					ZNF200_uc002cum.3_Missense_Mutation_p.G373A|ZNF200_uc010bti.2_Missense_Mutation_p.G373A|ZNF200_uc002cuk.2_Missense_Mutation_p.G374A|ZNF200_uc002cui.2_Missense_Mutation_p.G373A|ZNF200_uc002cul.3_Missense_Mutation_p.G373A	p.G374A	NM_003454	NP_003445	P98182	ZN200_HUMAN			5	1753	-			374			C2H2-type 5.		D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	ENST00000431561.3	37	c.1121G>C	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247686	0.39697	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T	0.26810	1.71;1.71;1.71	5.31	4.36	0.52297	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41001	D	0.000976	T	0.13114	0.0318	N	0.03224	-0.385	0.23266	N	0.998015	B;B;B	0.33135	0.399;0.399;0.347	B;B;B	0.39904	0.313;0.313;0.209	T	0.13282	-1.0515	10	0.41790	T	0.15	-12.2655	7.1743	0.25736	0.0:0.7375:0.1727:0.0899	.	373;374;373	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	A	374;373;373;373;374	ENSP00000380077:G373A;ENSP00000380080:G373A;ENSP00000395723:G374A	ENSP00000380077:G373A	G	-	2	0	ZNF200	3213960	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.080000	0.11339	1.468000	0.48064	0.557000	0.71058	GGT		0.483	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1				46	418	0	0	0	0.01441	0	46	418		
ZNF200	7752	broad.mit.edu	37	16	3273997	3273997	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3273997C>T	ENST00000431561.3	-	5	1695	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	ZNF200_ENST00000414144.2_Silent_p.E361E|ZNF200_ENST00000575948.1_Silent_p.E360E|ZNF200_ENST00000396870.4_Silent_p.E360E|ZNF200_ENST00000396871.4_Silent_p.E360E|ZNF200_ENST00000396868.3_Silent_p.E360E|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E361D(1)|p.E361E(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CATATGGTCTCTCAGCCTCAT	0.453																																						uc002cuj.2		NaN																	2	Substitution - Missense(1)|Substitution - coding silent(1)		urinary_tract(2)		0						c.(1081-1083)GAG>GAA		zinc finger protein 200 isoform 1							242.0	260.0	254.0					16																	3273997		2197	4300	6497	SO:0001819	synonymous_variant	7752				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr16:3273997C>T	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.1083G>A	16.37:g.3273997C>T						ZNF200_uc002cum.3_Silent_p.E360E|ZNF200_uc010bti.2_Silent_p.E360E|ZNF200_uc002cuk.2_Silent_p.E361E|ZNF200_uc002cui.2_Silent_p.E360E|ZNF200_uc002cul.3_Silent_p.E360E	p.E361E	NM_003454	NP_003445	P98182	ZN200_HUMAN			5	1715	-			361					D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Silent	SNP	ENST00000431561.3	37	c.1083G>A	CCDS10497.1																																																																																				0.453	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1				87	394	0	0	0	0.01441	0	87	394		
ZNF263	10127	broad.mit.edu	37	16	3339455	3339455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3339455C>T	ENST00000219069.5	+	6	1825	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	ZNF263_ENST00000574253.1_Silent_p.L150L|ZNF263_ENST00000538765.1_5'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	317					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q317*(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CATCCACCCTCAGGTGCTGCT	0.562																																						uc002cuq.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(3)|ovary(1)	4						c.(949-951)CAG>TAG		zinc finger protein 263							76.0	85.0	82.0					16																	3339455		2197	4300	6497	SO:0001587	stop_gained	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339455C>T	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.949C>T	16.37:g.3339455C>T	ENSP00000219069:p.Gln317*					ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR	p.Q317*	NM_005741	NP_005732	O14978	ZN263_HUMAN			6	1281	+			317					B2R634|O43387|Q96H95	Nonsense_Mutation	SNP	ENST00000219069.5	37	c.949C>T	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	C	40	8.030934	0.98619	.	.	ENSG00000006194	ENST00000219069	.	.	.	5.49	3.5	0.40072	.	0.575345	0.15718	N	0.248025	.	.	.	.	.	.	0.20196	N	0.999924	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	9.1264	0.36818	0.1651:0.6759:0.159:0.0	.	.	.	.	X	317	.	ENSP00000219069:Q317X	Q	+	1	0	ZNF263	3279456	0.000000	0.05858	0.005000	0.12908	0.386000	0.30323	0.476000	0.22180	0.845000	0.35118	0.655000	0.94253	CAG		0.562	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2				45	163	0	0	0	0.01441	0	45	163		
SLX4	84464	broad.mit.edu	37	16	3656547	3656547	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3656547C>T	ENST00000294008.3	-	3	1328	c.688G>A	c.(688-690)Gag>Aag	p.E230K		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	230	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.E230K(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGGGAGCACTCTTCTGAAGCG	0.542								Direct reversal of damage																														uc002cvp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(688-690)GAG>AAG	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							224.0	222.0	223.0					16																	3656547		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3656547C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.688G>A	16.37:g.3656547C>T	ENSP00000294008:p.Glu230Lys					BTBD12_uc002cvq.1_Missense_Mutation_p.E230K	p.E230K	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			3	1315	-			230			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.688G>A	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	7.333	0.619424	0.14129	.	.	ENSG00000188827	ENST00000294008	T	0.01159	5.25	5.16	2.08	0.27032	.	0.782715	0.11559	N	0.551946	T	0.00845	0.0028	L	0.34521	1.04	0.09310	N	1	B	0.30763	0.294	B	0.22152	0.038	T	0.44452	-0.9327	10	0.09843	T	0.71	.	2.7716	0.05336	0.1342:0.4455:0.2614:0.1589	.	230	Q8IY92	SLX4_HUMAN	K	230	ENSP00000294008:E230K	ENSP00000294008:E230K	E	-	1	0	SLX4	3596548	0.000000	0.05858	0.001000	0.08648	0.121000	0.20230	-0.105000	0.10907	0.683000	0.31428	0.655000	0.94253	GAG		0.542	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3		NM_032444		81	268	0	0	0	0.01441	0	81	268		
GLIS2	84662	broad.mit.edu	37	16	4382347	4382347	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:4382347G>C	ENST00000262366.3	+	3	887	c.66G>C	c.(64-66)gaG>gaC	p.E22D	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.E22D			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	22					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.E22D(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CGGCAAGAGAGAAGCGGGAGA	0.682																																						uc002cwc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(64-66)GAG>GAC		GLIS family zinc finger 2							38.0	40.0	39.0					16																	4382347		2196	4298	6494	SO:0001583	missense	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4382347G>C	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.66G>C	16.37:g.4382347G>C	ENSP00000262366:p.Glu22Asp						p.E22D	NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN			1	123	+			22					B3KX84	Missense_Mutation	SNP	ENST00000262366.3	37	c.66G>C	CCDS10511.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491574	0.44249	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	T;T	0.11821	2.74;2.74	5.23	0.0453	0.14229	.	0.069807	0.56097	D	0.000025	T	0.09024	0.0223	N	0.24115	0.695	0.80722	D	1	D	0.58268	0.982	B	0.43783	0.431	T	0.19582	-1.0301	10	0.37606	T	0.19	.	9.9618	0.41701	0.4335:0.0:0.5665:0.0	.	22	Q9BZE0	GLIS2_HUMAN	D	22	ENSP00000262366:E22D;ENSP00000395547:E22D	ENSP00000262366:E22D	E	+	3	2	GLIS2	4322348	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	2.042000	0.41222	0.121000	0.18284	-0.145000	0.13849	GAG		0.682	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1		NM_032575		10	40	0	0	0	0.001855	0	10	40		
CORO7	79585	broad.mit.edu	37	16	4412079	4412079	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:4412079G>A	ENST00000251166.4	-	16	1630	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	CORO7_ENST00000423908.2_Silent_p.L327L|CORO7_ENST00000539968.1_Silent_p.L275L|CORO7_ENST00000537233.2_Silent_p.L477L|CORO7_ENST00000574025.1_Silent_p.L410L|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7-PAM16_ENST00000572467.1_Silent_p.L495L	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	495					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.L495L(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CAGGTGTGGTGAGGTTGAGCC	0.642																																						uc002cwh.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1483-1485)CTC>CTT		coronin 7							137.0	100.0	112.0					16																	4412079		2197	4298	6495	SO:0001819	synonymous_variant	79585					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction		g.chr16:4412079G>A	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1485C>T	16.37:g.4412079G>A						CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Silent_p.L495L|CORO7_uc002cwg.3_Silent_p.L275L|CORO7_uc010uxh.1_Silent_p.L477L|CORO7_uc010uxi.1_Silent_p.L410L|CORO7_uc002cwi.1_Silent_p.L275L|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Silent_p.L275L	p.L495L	NM_024535	NP_078811	P57737	CORO7_HUMAN			16	1605	-			495					B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.1485C>T	CCDS10513.1																																																																																				0.642	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2		NM_024535		12	46	0	0	0	0.008871	0	12	46		
PPL	5493	broad.mit.edu	37	16	4933745	4933745	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:4933745C>T	ENST00000345988.2	-	22	5000	c.4911G>A	c.(4909-4911)caG>caA	p.Q1637Q	PPL_ENST00000590782.2_Silent_p.Q1635Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1637					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.Q1637Q(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCAGGCGCTTCTGCAGCTCGT	0.632																																						uc002cyd.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4909-4911)CAG>CAA		periplakin							54.0	51.0	52.0					16																	4933745		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4933745C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4911G>A	16.37:g.4933745C>T							p.Q1637Q	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	5001	-			1637			Potential.		O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.4911G>A	CCDS10526.1																																																																																				0.632	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		NM_002705		16	53	0	0	0	0.007413	0	16	53		
RSL1D1	26156	broad.mit.edu	37	16	11940562	11940562	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:11940562G>C	ENST00000571133.1	-	4	595	c.523C>G	c.(523-525)Caa>Gaa	p.Q175E	RSL1D1_ENST00000542106.1_De_novo_Start_OutOfFrame	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	175					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.Q175E(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTCTTTCTTTGATAGAAATGT	0.413																																						uc002dbp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(523-525)CAA>GAA		ribosomal L1 domain containing 1							204.0	217.0	213.0					16																	11940562		2197	4300	6497	SO:0001583	missense	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11940562G>C	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.523C>G	16.37:g.11940562G>C	ENSP00000460871:p.Gln175Glu					RSL1D1_uc010buv.1_Missense_Mutation_p.Q175E|RSL1D1_uc010uyw.1_Translation_Start_Site|RSL1D1_uc010buw.2_RNA	p.Q175E	NM_015659	NP_056474	O76021	RL1D1_HUMAN			4	596	-			175					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	c.523C>G	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	G	4.603	0.112092	0.08831	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	T	0.40225	1.04	5.23	2.11	0.27256	Ribosomal protein L1, 3-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	1.781150	0.02626	N	0.103764	T	0.31327	0.0793	L	0.31526	0.94	0.09310	N	0.999998	B;B	0.22541	0.071;0.014	B;B	0.24006	0.05;0.03	T	0.14420	-1.0473	10	0.20519	T	0.43	-1.1991	4.3842	0.11309	0.0827:0.1168:0.5033:0.2972	.	175;175	Q32Q62;O76021	.;RL1D1_HUMAN	E	175	ENSP00000347897:Q175E	ENSP00000347897:Q175E	Q	-	1	0	RSL1D1	11848063	0.001000	0.12720	0.009000	0.14445	0.835000	0.47333	0.331000	0.19733	0.515000	0.28320	0.555000	0.69702	CAA		0.413	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2		NM_015659		85	262	0	0	0	0.01441	0	85	262		
EARS2	124454	broad.mit.edu	37	16	23543988	23543988	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:23543988C>T	ENST00000563459.1	-	5	1063	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	EARS2_ENST00000564501.1_Missense_Mutation_p.E353K|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000449606.1_Missense_Mutation_p.E353K|EARS2_ENST00000563232.1_Missense_Mutation_p.E353K			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	353					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)	p.E353K(1)		central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CTGTTGAATTCTGGGAGCTTC	0.547																																						uc002dlt.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1057-1059)GAA>AAA		glutamyl-tRNA synthetase 2 precursor	L-Glutamic Acid(DB00142)						56.0	58.0	57.0					16																	23543988		1922	4130	6052	SO:0001583	missense	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23543988C>T	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.1057G>A	16.37:g.23543988C>T	ENSP00000456467:p.Glu353Lys					EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Missense_Mutation_p.E353K	p.E353K	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	5	1089	-			353					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	c.1057G>A	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231637	0.95207	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.41400	1.0	5.65	5.65	0.86999	Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain (1);Aminoacyl-tRNA synthetase, class I, anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	L	0.51422	1.61	0.80722	D	1	D;B	0.76494	0.999;0.068	D;B	0.72338	0.977;0.063	T	0.60058	-0.7337	10	0.59425	D	0.04	-3.6437	18.6982	0.91610	0.0:1.0:0.0:0.0	.	353;353	Q86YH3;Q5JPH6	.;SYEM_HUMAN	K	353	ENSP00000395196:E353K	ENSP00000343488:E353K	E	-	1	0	EARS2	23451489	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.348000	0.79366	2.666000	0.90696	0.655000	0.94253	GAA		0.547	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1		NM_133451		15	48	0	0	0	0.003163	0	15	48		
DCTN5	84516	broad.mit.edu	37	16	23669929	23669929	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:23669929C>G	ENST00000300087.2	+	3	370	c.219C>G	c.(217-219)ttC>ttG	p.F73L	DCTN5_ENST00000568589.1_Missense_Mutation_p.F73L|DCTN5_ENST00000563998.1_Missense_Mutation_p.F73L	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	73					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)		p.F73L(1)		endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		GGCCACCATTCAAGAAGTTCA	0.423																																						uc002dly.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)	1						c.(217-219)TTC>TTG		dynactin 5							193.0	163.0	173.0					16																	23669929		2197	4300	6497	SO:0001583	missense	84516					centrosome	transferase activity	g.chr16:23669929C>G		CCDS10615.1, CCDS58435.1, CCDS58436.1	16p12.1	2008-02-05			ENSG00000166847	ENSG00000166847			24594	protein-coding gene	gene with protein product		612962				10525537, 15043994	Standard	NM_032486		Approved	MGC3248, p25	uc002dly.2	Q9BTE1	OTTHUMG00000131610	ENST00000300087.2:c.219C>G	16.37:g.23669929C>G	ENSP00000300087:p.Phe73Leu						p.F73L	NM_032486	NP_115875	Q9BTE1	DCTN5_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	3	276	+			73					A8K9X8|H3BN51|H3BQA4	Missense_Mutation	SNP	ENST00000300087.2	37	c.219C>G	CCDS10615.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694527	0.30052	.	.	ENSG00000166847	ENST00000300087	.	.	.	5.38	4.42	0.53409	Trimeric LpxA-like (1);	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.72576	2.205	0.80722	D	1	B	0.19706	0.038	B	0.14023	0.01	T	0.52177	-0.8610	9	0.25106	T	0.35	-17.3806	8.7651	0.34698	0.0:0.8305:0.0:0.1695	.	73	Q9BTE1	DCTN5_HUMAN	L	73	.	ENSP00000300087:F73L	F	+	3	2	DCTN5	23577430	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.075000	0.41538	2.690000	0.91761	0.655000	0.94253	TTC		0.423	DCTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254497.1		NM_032486		36	109	0	0	0	0.004878	0	36	109		
ERN2	10595	broad.mit.edu	37	16	23706204	23706204	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:23706204C>G	ENST00000457008.2	-	16	1827	c.1789G>C	c.(1789-1791)Gac>Cac	p.D597H	ERN2_ENST00000256797.4_Missense_Mutation_p.D697H					endoplasmic reticulum to nucleus signaling 2									p.D697H(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCTGGCTGTCAGGCCCGGTG	0.627																																						uc002dma.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|lung(2)|ovary(2)	6						c.(2089-2091)GAC>CAC		endoplasmic reticulum to nucleus signalling 2							42.0	42.0	42.0					16																	23706204		2197	4300	6497	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23706204C>G	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1789G>C	16.37:g.23706204C>G	ENSP00000413812:p.Asp597His					ERN2_uc010bxp.2_Missense_Mutation_p.D645H	p.D697H	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	17	2258	-			649			Protein kinase.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000457008.2	37	c.2089G>C		.	.	.	.	.	.	.	.	.	.	C	11.46	1.645027	0.29246	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.52057	0.68;0.68	5.39	5.39	0.77823	.	0.309734	0.35179	N	0.003394	T	0.62804	0.2458	M	0.73217	2.22	0.37467	D	0.91545	D;D	0.58970	0.984;0.973	P;D	0.63283	0.905;0.913	T	0.68462	-0.5402	10	0.56958	D	0.05	.	10.4497	0.44516	0.0:0.9112:0.0:0.0888	.	597;649	E7ETG2;A5YM65	.;.	H	697;597	ENSP00000256797:D697H;ENSP00000413812:D597H	ENSP00000256797:D697H	D	-	1	0	ERN2	23613705	0.544000	0.26441	0.994000	0.49952	0.134000	0.20937	1.647000	0.37260	2.676000	0.91093	0.655000	0.94253	GAC		0.627	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1				15	48	0	0	0	0.003163	0	15	48		
SEZ6L2	26470	broad.mit.edu	37	16	29883590	29883590	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:29883590G>A	ENST00000308713.5	-	16	3148	c.2621C>T	c.(2620-2622)tCc>tTc	p.S874F	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.S773F|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.S843F|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.S817F	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	874					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.S874F(1)|p.S817F(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCGAAAAGGGACTTTCCCTG	0.602																																						uc002duq.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(2620-2622)TCC>TTC		seizure related 6 homolog (mouse)-like 2 isoform							47.0	47.0	47.0					16																	29883590		2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29883590G>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2621C>T	16.37:g.29883590G>A	ENSP00000312550:p.Ser874Phe					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.S817F|SEZ6L2_uc002dur.3_Missense_Mutation_p.S804F|SEZ6L2_uc002dus.3_Missense_Mutation_p.S773F|SEZ6L2_uc010vec.1_Missense_Mutation_p.S887F|SEZ6L2_uc010ved.1_Missense_Mutation_p.S843F	p.S874F	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			16	2861	-			874			Cytoplasmic (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.2621C>T	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217057	0.79352	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.41400	1.29;1.0;1.27;1.24	5.43	5.43	0.79202	.	0.000000	0.50627	D	0.000110	T	0.61286	0.2335	L	0.52905	1.665	0.52099	D	0.999942	D;D;D;D;P;D	0.69078	0.997;0.981;0.981;0.987;0.952;0.995	D;P;P;P;P;P	0.72075	0.976;0.687;0.687;0.773;0.598;0.834	T	0.62548	-0.6831	10	0.66056	D	0.02	.	18.0122	0.89227	0.0:0.0:1.0:0.0	.	843;887;773;804;874;817	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	F	817;874;773;843	ENSP00000310206:S817F;ENSP00000312550:S874F;ENSP00000319215:S773F;ENSP00000439412:S843F	ENSP00000312550:S874F	S	-	2	0	SEZ6L2	29791091	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.134000	0.94467	2.550000	0.86006	0.655000	0.94253	TCC		0.602	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2		NM_012410		11	54	0	0	0	0.013537	0	11	54		
FUS	2521	broad.mit.edu	37	16	31195651	31195651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:31195651C>T	ENST00000254108.7	+	5	562	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	FUS_ENST00000380244.3_Nonsense_Mutation_p.Q152*|FUS_ENST00000568685.1_Nonsense_Mutation_p.Q153*|RP11-388M20.6_ENST00000564743.1_RNA	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	153	Gln/Gly/Ser/Tyr-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Q153*(1)	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TAATCCCCCTCAGGGCTATGG	0.562			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	uc002ebf.2		NaN		Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1		liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma	FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2)	1	Substitution - Nonsense(1)		urinary_tract(1)	soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2)	958						c.(457-459)CAG>TAG		fusion (involved in t(12;16) in malignant							99.0	86.0	91.0					16																	31195651		2197	4300	6497	SO:0001587	stop_gained	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31195651C>T	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.457C>T	16.37:g.31195651C>T	ENSP00000254108:p.Gln153*					FUS_uc002ebe.1_Nonsense_Mutation_p.Q153*|FUS_uc002ebh.2_Nonsense_Mutation_p.Q152*|FUS_uc002ebg.2_5'UTR|FUS_uc002ebi.2_Nonsense_Mutation_p.Q153*|FUS_uc002ebj.2_5'UTR|FUS_uc002ebk.1_5'Flank	p.Q153*	NM_004960	NP_004951	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	5	540	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	153			Gln/Gly/Ser/Tyr-rich.		Q9H4A8	Nonsense_Mutation	SNP	ENST00000254108.7	37	c.457C>T	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302441	0.95601	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	.	.	.	5.81	5.81	0.92471	.	0.344593	0.27402	N	0.019523	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-4.0605	18.8627	0.92280	0.0:1.0:0.0:0.0	.	.	.	.	X	153	.	ENSP00000254108:Q153X	Q	+	1	0	FUS	31103152	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.607000	0.61133	2.746000	0.94184	0.591000	0.81541	CAG		0.562	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2		NM_004960		33	109	0	0	0	0.012213	0	33	109		
ADCY7	113	broad.mit.edu	37	16	50346030	50346030	+	Silent	SNP	G	G	A	rs138338317		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:50346030G>A	ENST00000394697.2	+	21	2872	c.2532G>A	c.(2530-2532)gtG>gtA	p.V844V	ADCY7_ENST00000254235.3_Silent_p.V844V			P51828	ADCY7_HUMAN	adenylate cyclase 7	844					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.V844V(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TGGAGAACGTGAACCGCCTTC	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19520	0.0		0.0	False		,,,				2504	0.0					uc002egd.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(2530-2532)GTG>GTA		adenylate cyclase 7	Bromocriptine(DB01200)	G		2,4394	4.2+/-10.8	0,2,2196	115.0	103.0	107.0		2532	4.8	1.0	16	dbSNP_134	107	19,8581	14.0+/-48.4	0,19,4281	no	coding-synonymous	ADCY7	NM_001114.3		0,21,6477	AA,AG,GG		0.2209,0.0455,0.1616		844/1081	50346030	21,12975	2198	4300	6498	SO:0001819	synonymous_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50346030G>A	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2532G>A	16.37:g.50346030G>A							p.V844V	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	20	2800	+		all_cancers(37;0.0127)	844			Cytoplasmic (Potential).		A0AVA6	Silent	SNP	ENST00000394697.2	37	c.2532G>A	CCDS10741.1																																																																																				0.552	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3				39	93	0	0	0	0.006999	0	39	93		
BRD7	29117	broad.mit.edu	37	16	50384019	50384019	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:50384019G>C	ENST00000394688.3	-	5	665	c.506C>G	c.(505-507)tCc>tGc	p.S169C	snoU13_ENST00000459559.1_RNA|BRD7_ENST00000394689.2_Missense_Mutation_p.S169C|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	169	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S169C(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				AATGATCATGGAGTAGCCAGG	0.328																																						uc002egf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(505-507)TCC>TGC		bromodomain containing 7							105.0	101.0	102.0					16																	50384019		2198	4295	6493	SO:0001583	missense	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50384019G>C	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.506C>G	16.37:g.50384019G>C	ENSP00000378180:p.Ser169Cys					BRD7_uc002ege.1_Missense_Mutation_p.S169C	p.S169C	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN			6	573	-		all_cancers(37;0.0127)	169			Bromo.		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	c.506C>G	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907120	0.92107	.	.	ENSG00000166164	ENST00000394688;ENST00000394689;ENST00000401491	T;T	0.18960	2.18;2.18	5.56	5.56	0.83823	Bromodomain (6);	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	M	0.79475	2.455	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.964	T	0.51268	-0.8727	10	0.62326	D	0.03	-1.8494	19.5155	0.95162	0.0:0.0:1.0:0.0	.	169;169	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	C	169	ENSP00000378180:S169C;ENSP00000378181:S169C	ENSP00000378180:S169C	S	-	2	0	BRD7	48941520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.781000	0.99029	2.620000	0.88729	0.591000	0.81541	TCC		0.328	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3		NM_013263		24	77	0	0	0	0.014323	0	24	77		
RSPRY1	89970	broad.mit.edu	37	16	57269103	57269103	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:57269103G>A	ENST00000537866.1	+	14	2470	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.E533K			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	533						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.E533K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TTGTTGTGATGAGGTAGCAGA	0.403																																						uc002elb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1597-1599)GAG>AAG		ring finger and SPRY domain containing 1							112.0	102.0	105.0					16																	57269103		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57269103G>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1597G>A	16.37:g.57269103G>A	ENSP00000443176:p.Glu533Lys					RSPRY1_uc002elc.2_Missense_Mutation_p.E533K|RSPRY1_uc002eld.2_Missense_Mutation_p.E533K	p.E533K	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN			14	1875	+			533			RING-type.		Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.1597G>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726935	0.48833	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.78707	-1.2;-1.2	6.16	6.16	0.99307	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.100513	0.64402	D	0.000003	T	0.61825	0.2378	N	0.10733	0.035	0.50039	D	0.99984	B	0.10296	0.003	B	0.13407	0.009	T	0.59059	-0.7525	10	0.08599	T	0.76	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	533	Q96DX4	RSPRY_HUMAN	K	533	ENSP00000377942:E533K;ENSP00000443176:E533K	ENSP00000377942:E533K	E	+	1	0	RSPRY1	55826604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.376000	0.59556	2.937000	0.99478	0.650000	0.86243	GAG		0.403	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1		NM_133368		15	44	0	0	0	0.00499	0	15	44		
RSPRY1	89970	broad.mit.edu	37	16	57269112	57269112	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:57269112G>A	ENST00000537866.1	+	14	2479	c.1606G>A	c.(1606-1608)Gac>Aac	p.D536N	RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.D536N			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	536						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.D536N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGAGGTAGCAGACACACAATT	0.423																																						uc002elb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1606-1608)GAC>AAC		ring finger and SPRY domain containing 1							107.0	96.0	100.0					16																	57269112		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57269112G>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1606G>A	16.37:g.57269112G>A	ENSP00000443176:p.Asp536Asn					RSPRY1_uc002elc.2_Missense_Mutation_p.D536N|RSPRY1_uc002eld.2_Missense_Mutation_p.D536N	p.D536N	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN			14	1884	+			536			RING-type.		Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.1606G>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446371	0.84101	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.78924	-1.22;-1.22	6.16	6.16	0.99307	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.69735	0.3144	N	0.25890	0.77	0.80722	D	1	B	0.30439	0.279	B	0.27380	0.079	T	0.64309	-0.6438	10	0.34782	T	0.22	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	536	Q96DX4	RSPRY_HUMAN	N	536	ENSP00000377942:D536N;ENSP00000443176:D536N	ENSP00000377942:D536N	D	+	1	0	RSPRY1	55826613	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	GAC		0.423	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1		NM_133368		12	43	0	0	0	0.00245	0	12	43		
ARL2BP	23568	broad.mit.edu	37	16	57283691	57283691	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:57283691G>A	ENST00000219204.3	+	4	490	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	ARL2BP_ENST00000562023.1_Splice_Site|RP11-407G23.3_ENST00000564376.1_RNA|RP11-407G23.4_ENST00000562409.1_RNA	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein	74					maintenance of protein location in nucleus (GO:0051457)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of catalytic activity (GO:0050790)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	centrosome (GO:0005813)|cilium (GO:0005929)|midbody (GO:0030496)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	small GTPase regulator activity (GO:0005083)|transcription coactivator activity (GO:0003713)	p.E74K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						TTCTTTGGTAGAAAAATACAT	0.423																																						uc002elf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(220-222)GAA>AAA		binder of Arl Two							131.0	132.0	132.0					16																	57283691		2198	4300	6498	SO:0001583	missense	23568				maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction	centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle	protein binding|small GTPase regulator activity|transcription coactivator activity	g.chr16:57283691G>A	AF126062	CCDS10776.1	16q13	2014-01-30			ENSG00000102931	ENSG00000102931			17146	protein-coding gene	gene with protein product	"""binder of Arl2"""	615407	"""retinitis pigmentosa 66 (autosomal recessive)"""	RP66		10488091, 18981177, 23849777	Standard	NM_012106		Approved	BART1, BART	uc002elf.1	Q9Y2Y0	OTTHUMG00000133459	ENST00000219204.3:c.220G>A	16.37:g.57283691G>A	ENSP00000219204:p.Glu74Lys					ARL2BP_uc010vhl.1_Missense_Mutation_p.E74K	p.E74K	NM_012106	NP_036238	Q9Y2Y0	AR2BP_HUMAN			4	462	+			74	E->A: Decreases interaction with ARL2.				B3KQJ5|Q504R0	Missense_Mutation	SNP	ENST00000219204.3	37	c.220G>A	CCDS10776.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880059	0.72294	.	.	ENSG00000102931	ENST00000219204	T	0.49720	0.77	5.95	5.95	0.96441	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.000000	0.85682	U	0.000000	T	0.76593	0.4009	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.977	T	0.80188	-0.1486	10	0.87932	D	0	-11.0706	20.3931	0.98965	0.0:0.0:1.0:0.0	.	42;74	B4DQD8;Q9Y2Y0	.;AR2BP_HUMAN	K	74	ENSP00000219204:E74K	ENSP00000219204:E74K	E	+	1	0	ARL2BP	55841192	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	6.934000	0.75880	2.824000	0.97209	0.655000	0.94253	GAA		0.423	ARL2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257334.2		NM_012106		21	118	0	0	0	0.012319	0	21	118		
CNGB1	1258	broad.mit.edu	37	16	57918280	57918280	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:57918280C>T	ENST00000251102.8	-	33	3604	c.3544G>A	c.(3544-3546)Gac>Aac	p.D1182N	CNGB1_ENST00000564448.1_Missense_Mutation_p.D1176N	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1182					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.D1182N(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCGGGTGGGTCGGTGGCGGCC	0.721																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|pancreas(1)	4						c.(3544-3546)GAC>AAC		cyclic nucleotide gated channel beta 1 isoform							15.0	17.0	16.0					16																	57918280		1896	4051	5947	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57918280C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3544G>A	16.37:g.57918280C>T	ENSP00000251102:p.Asp1182Asn					CNGB1_uc010cdh.2_Missense_Mutation_p.D1176N	p.D1182N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			33	3609	-			1182			Cytoplasmic (Potential).		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.3544G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695656	0.48202	.	.	ENSG00000070729	ENST00000251102	D	0.96396	-4.0	3.9	3.9	0.45041	.	1.976920	0.02372	N	0.077941	D	0.90219	0.6942	N	0.08118	0	0.42835	D	0.994038	P;P	0.47604	0.706;0.898	B;B	0.33339	0.162;0.107	T	0.82080	-0.0634	10	0.40728	T	0.16	.	11.5551	0.50743	0.0:1.0:0.0:0.0	.	554;1182	Q14028-2;Q14028	.;CNGB1_HUMAN	N	1182	ENSP00000251102:D1182N	ENSP00000251102:D1182N	D	-	1	0	CNGB1	56475781	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	0.503000	0.22610	2.161000	0.67846	0.609000	0.83330	GAC		0.721	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2		NM_001297		9	31	0	0	0	0.006214	0	9	31		
ZDHHC1	29800	broad.mit.edu	37	16	67428988	67428988	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:67428988G>C	ENST00000348579.2	-	10	1488	c.1147C>G	c.(1147-1149)Cag>Gag	p.Q383E	TPPP3_ENST00000562206.1_5'Flank|ZDHHC1_ENST00000566075.1_Intron|TPPP3_ENST00000290942.5_5'Flank|TPPP3_ENST00000393957.2_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	383					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.Q383E(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GGGGGAGCCTGAGGGCCCCAC	0.617																																						uc010vjm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1147-1149)CAG>GAG		zinc finger, DHHC-type containing 1							21.0	24.0	23.0					16																	67428988		2197	4300	6497	SO:0001583	missense	29800					integral to membrane	DNA binding|zinc ion binding	g.chr16:67428988G>C	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.1147C>G	16.37:g.67428988G>C	ENSP00000340299:p.Gln383Glu					TPPP3_uc002eta.2_5'Flank|TPPP3_uc002etb.2_5'Flank	p.Q383E	NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)	10	1451	-		Ovarian(137;0.223)	383					O15461	Missense_Mutation	SNP	ENST00000348579.2	37	c.1147C>G	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695443	0.30052	.	.	ENSG00000159714	ENST00000348579	T	0.38401	1.14	4.04	0.661	0.17874	.	480.290000	0.00166	N	0.000014	T	0.18800	0.0451	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.17433	0.018	T	0.17077	-1.0381	10	0.02654	T	1	.	3.5989	0.08018	0.2608:0.2079:0.5313:0.0	.	383	Q8WTX9	ZDHC1_HUMAN	E	383	ENSP00000340299:Q383E	ENSP00000340299:Q383E	Q	-	1	0	ZDHHC1	65986489	0.023000	0.18921	0.002000	0.10522	0.078000	0.17371	0.347000	0.20014	0.076000	0.16826	0.561000	0.74099	CAG		0.617	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1		NM_013304		4	28	0	0	0	0.000602	0	4	28		
CTCF	10664	broad.mit.edu	37	16	67662356	67662356	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:67662356G>A	ENST00000264010.4	+	9	2046	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q	CTCF_ENST00000401394.1_Silent_p.Q206Q	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	534					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q534Q(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CCTTCCGCCAGAAGCAGCTTC	0.557																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1600-1602)CAG>CAA		CCCTC-binding factor							183.0	151.0	161.0					16																	67662356		2198	4300	6498	SO:0001819	synonymous_variant	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67662356G>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1602G>A	16.37:g.67662356G>A						CTCF_uc010cek.2_Silent_p.Q206Q|CTCF_uc002etm.1_Silent_p.Q23Q	p.Q534Q	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	9	1892	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	534			C2H2-type 10.		B5MC38|Q53XI7|Q59EL8	Silent	SNP	ENST00000264010.4	37	c.1602G>A	CCDS10841.1																																																																																				0.557	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2		NM_006565		29	87	0	0	0	0.008361	0	29	87		
VAC14	55697	broad.mit.edu	37	16	70817025	70817025	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:70817025C>G	ENST00000261776.5	-	7	982	c.722G>C	c.(721-723)gGa>gCa	p.G241A		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	241					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)	p.G241A(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TAAGAATTCTCCAAGAACAAC	0.498																																						uc002ezm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)|skin(1)	2						c.(721-723)GGA>GCA		Vac14 homolog							84.0	94.0	91.0					16																	70817025		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70817025C>G	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.722G>C	16.37:g.70817025C>G	ENSP00000261776:p.Gly241Ala					VAC14_uc010cfw.2_Missense_Mutation_p.G7A|VAC14_uc002ezn.2_Intron	p.G241A	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN			7	980	-		Ovarian(137;0.0699)	241			HEAT 4.		B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.722G>C	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.335922	0.60853	.	.	ENSG00000103043	ENST00000261776	T	0.67171	-0.25	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.41573	1.285	0.80722	D	1	B	0.24721	0.11	B	0.31751	0.135	T	0.59852	-0.7376	10	0.36615	T	0.2	-12.7128	18.5613	0.91101	0.0:1.0:0.0:0.0	.	241	Q08AM6	VAC14_HUMAN	A	241	ENSP00000261776:G241A	ENSP00000261776:G241A	G	-	2	0	VAC14	69374526	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.469000	0.80959	2.386000	0.81285	0.561000	0.74099	GGA		0.498	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3		NM_018052		36	109	0	0	0	0.00623	0	36	109		
CHST6	4166	broad.mit.edu	37	16	75512842	75512842	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:75512842G>A	ENST00000332272.4	-	3	1064	c.885C>T	c.(883-885)ctC>ctT	p.L295L	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.L295L	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	295					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)	p.L295L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTGTGGCGTGAGACTGAGCC	0.647																																						uc002fef.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(883-885)CTC>CTT		carbohydrate (N-acetylglucosamine 6-O)							57.0	53.0	54.0					16																	75512842		2198	4300	6498	SO:0001819	synonymous_variant	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512842G>A	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.885C>T	16.37:g.75512842G>A						CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.L295L	p.L295L	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	1065	-			295			Lumenal (Potential).		D3DUK3	Silent	SNP	ENST00000332272.4	37	c.885C>T	CCDS10918.1																																																																																				0.647	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1		NM_021615		14	58	0	0	0	0.003163	0	14	58		
PLCG2	5336	broad.mit.edu	37	16	81934316	81934316	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:81934316G>A	ENST00000359376.3	+	14	1507	c.1293G>A	c.(1291-1293)acG>acA	p.T431T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	431	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.T431T(4)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGCTGTTGACGAAGCCCACGG	0.612																																						uc002fgt.2		NaN																	4	Substitution - coding silent(4)		urinary_tract(2)|prostate(2)	large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(1291-1293)ACG>ACA		phospholipase C, gamma 2							46.0	52.0	50.0					16																	81934316		2136	4253	6389	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81934316G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1293G>A	16.37:g.81934316G>A						PLCG2_uc010chg.1_Silent_p.T431T	p.T431T	NM_002661	NP_002652	P16885	PLCG2_HUMAN			14	1445	+			431			PI-PLC X-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.1293G>A	CCDS42204.1																																																																																				0.612	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1				19	54	0	0	0	0.007413	0	19	54		
SPG7	6687	broad.mit.edu	37	16	89598329	89598329	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:89598329C>G	ENST00000268704.2	+	8	1020	c.1005C>G	c.(1003-1005)ctC>ctG	p.L335L	SPG7_ENST00000341316.2_Silent_p.L335L|RNU7-117P_ENST00000516770.1_RNA	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	335					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.L335L(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		AACGCTTCCTCCAGCTTGGCG	0.602																																						uc002fnj.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(1003-1005)CTC>CTG		spastic paraplegia 7 isoform 1							38.0	40.0	39.0					16																	89598329		2198	4300	6498	SO:0001819	synonymous_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89598329C>G	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1005C>G	16.37:g.89598329C>G						SPG7_uc002fni.2_Silent_p.L335L	p.L335L	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	8	1026	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	335			Mitochondrial matrix (Potential).		O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	ENST00000268704.2	37	c.1005C>G	CCDS10977.1																																																																																				0.602	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2		NM_003119		6	59	0	0	0	0.001984	0	6	59		
TUBB3	10381	broad.mit.edu	37	16	89998985	89998985	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:89998985G>A	ENST00000315491.7	+	2	187	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	TUBB3_ENST00000554336.1_Missense_Mutation_p.E22K|TUBB3_ENST00000555576.1_Missense_Mutation_p.E22K|TUBB3_ENST00000556922.1_Missense_Mutation_p.E369K|TUBB3_ENST00000554444.1_5'UTR|TUBB3_ENST00000304984.5_5'UTR|TUBB3_ENST00000553967.1_Missense_Mutation_p.E22K	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	22					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E22K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	GCAGTTCTGGGAAGTCATCAG	0.587																																						uc002fph.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(64-66)GAA>AAA		tubulin, beta, 4							79.0	63.0	68.0					16																	89998985		2198	4299	6497	SO:0001583	missense	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:89998985G>A	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.64G>A	16.37:g.89998985G>A	ENSP00000320295:p.Glu22Lys					TUBB3_uc002fpf.2_Missense_Mutation_p.E369K|TUBB3_uc010ciz.1_5'UTR|TUBB3_uc010cja.1_RNA|TUBB3_uc002fpg.1_5'UTR|TUBB3_uc002fpi.1_5'UTR|TUBB3_uc002fpj.1_5'UTR|TUBB3_uc010cjb.1_5'UTR|TUBB3_uc002fpk.1_5'Flank	p.E22K	NM_006086	NP_006077	Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	2	129	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	22					A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	c.64G>A	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	G	35	5.426245	0.96131	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000554336;ENST00000553967;ENST00000315491;ENST00000555576	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46	4.4	4.4	0.53042	Tubulin/FtsZ, GTPase domain (3);	0.107047	0.41097	D	0.000948	D	0.82990	0.5157	M	0.88775	2.98	0.80722	D	1	D;P	0.67145	0.996;0.937	D;P	0.66847	0.947;0.817	D	0.86387	0.1733	9	.	.	.	.	14.8558	0.70335	0.0:0.0:1.0:0.0	.	22;22	Q13509;B2RBD5	TBB3_HUMAN;.	K	369;22;22;22;22;22	ENSP00000451560:E369K;ENSP00000450822:E22K;ENSP00000450765:E22K;ENSP00000320295:E22K;ENSP00000452554:E22K	.	E	+	1	0	RP11-566K11.2;TUBB3	88526486	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.640000	0.98453	2.174000	0.68829	0.561000	0.74099	GAA		0.587	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1		NM_006086		14	53	0	0	0	0.003163	0	14	53		
TRPV3	162514	broad.mit.edu	37	17	3458046	3458046	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:3458046C>T	ENST00000576742.1	-	2	420	c.99G>A	c.(97-99)gaG>gaA	p.E33E	TRPV3_ENST00000301365.4_Silent_p.E33E|TRPV3_ENST00000572519.1_Silent_p.E33E	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	33					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.E33E(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TGGGGGTGATCTCCGCCGGCC	0.657																																						uc002fvt.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)	4						c.(97-99)GAG>GAA		transient receptor potential cation channel,	Menthol(DB00825)						39.0	41.0	40.0					17																	3458046		2203	4300	6503	SO:0001819	synonymous_variant	162514					integral to membrane	calcium channel activity	g.chr17:3458046C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.99G>A	17.37:g.3458046C>T						TRPV3_uc010vrj.1_5'UTR|TRPV3_uc010vrk.1_RNA|TRPV3_uc002fvr.2_Silent_p.E33E|TRPV3_uc002fvu.2_Silent_p.E33E	p.E33E	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN			2	421	-			33			Cytoplasmic (Potential).		Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	c.99G>A	CCDS11029.1																																																																																				0.657	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2		NM_145068		19	68	0	0	0	0.008871	0	19	68		
ALOX15	246	broad.mit.edu	37	17	4544957	4544957	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:4544957G>C	ENST00000570836.1	-	0	86				ALOX15_ENST00000545513.1_Missense_Mutation_p.S19C|ALOX15_ENST00000574640.1_De_novo_Start_OutOfFrame|ALOX15_ENST00000293761.3_De_novo_Start_OutOfFrame			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase						apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		CTTGCTCAAAGATGTTTCGCT	0.612																																						uc002fyh.2		NaN																	0				skin(3)|ovary(1)|lung(1)	5						c.(-12--8)ATCTT>ATGTT		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						40.0	35.0	37.0					17																	4544957		2199	4293	6492			246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4544957G>C	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.-11C>G	17.37:g.4544957G>C						ALOX15_uc010vsd.1_Translation_Start_Site|ALOX15_uc010vse.1_Missense_Mutation_p.S19C		NM_001140	NP_001131	P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	1	4	-								A8K2P4|B7ZA11|Q8N6R7|Q99657	Translation_Start_Site	SNP	ENST00000570836.1	37	c.-10C>G	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849112	0.51270	.	.	ENSG00000161905	ENST00000545513	T	0.73575	-0.76	5.41	3.22	0.36961	.	.	.	.	.	T	0.62221	0.2410	.	.	.	0.25958	N	0.982669	B	0.02656	0.0	B	0.04013	0.001	T	0.55192	-0.8179	8	0.66056	D	0.02	.	5.6469	0.17594	0.1286:0.1905:0.6809:0.0	.	19	F5H0G8	.	C	19	ENSP00000439855:S19C	ENSP00000439855:S19C	S	-	2	0	ALOX15	4491706	0.030000	0.19436	0.000000	0.03702	0.003000	0.03518	2.679000	0.46909	0.500000	0.27991	-0.156000	0.13503	TCT		0.612	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2				15	52	0	0	0	0.00245	0	15	52		
CAMTA2	23125	broad.mit.edu	37	17	4877697	4877697	+	Missense_Mutation	SNP	C	C	T	rs372893979		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:4877697C>T	ENST00000348066.3	-	12	2122	c.1999G>A	c.(1999-2001)Gat>Aat	p.D667N	RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000361571.5_Missense_Mutation_p.D666N|CAMTA2_ENST00000414043.3_Missense_Mutation_p.D690N|CAMTA2_ENST00000381311.5_Missense_Mutation_p.D669N|CAMTA2_ENST00000572543.1_Missense_Mutation_p.D672N|CAMTA2_ENST00000358183.4_Missense_Mutation_p.D667N	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	667					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)	p.D667N(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGAGGAGCATCAGGACCCTGG	0.572																																						uc002gah.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1999-2001)GAT>AAT		calmodulin binding transcription activator 2							139.0	107.0	118.0					17																	4877697		2203	4300	6503	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4877697C>T	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1999G>A	17.37:g.4877697C>T	ENSP00000321813:p.Asp667Asn					CAMTA2_uc010cku.1_Missense_Mutation_p.D690N|CAMTA2_uc002gag.1_Missense_Mutation_p.D666N|CAMTA2_uc002gai.1_Missense_Mutation_p.D669N|CAMTA2_uc010ckv.1_Missense_Mutation_p.D314N	p.D667N	NM_015099	NP_055914	O94983	CMTA2_HUMAN			12	2107	-			667					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.1999G>A	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	C	6.937	0.542549	0.13250	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.32272	2.67;1.69;1.46;1.69;1.47	5.62	3.64	0.41730	.	0.838784	0.10896	N	0.622112	T	0.16214	0.0390	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.001;0.003;0.001;0.001	T	0.31336	-0.9947	10	0.19590	T	0.45	-2.0164	5.6274	0.17490	0.1564:0.6794:0.0:0.1642	.	643;690;669;667;666	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	N	690;669;666;667;667	ENSP00000412886:D690N;ENSP00000370712:D669N;ENSP00000354828:D666N;ENSP00000350910:D667N;ENSP00000321813:D667N	ENSP00000321813:D667N	D	-	1	0	CAMTA2	4818421	0.003000	0.15002	0.186000	0.23195	0.318000	0.28184	1.101000	0.31037	0.751000	0.32900	0.591000	0.81541	GAT		0.572	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1		NM_015099		21	103	0	0	0	0.014323	0	21	103		
KIF1C	10749	broad.mit.edu	37	17	4904541	4904541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:4904541C>T	ENST00000320785.5	+	5	565	c.208C>T	c.(208-210)Cag>Tag	p.Q70*		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	70	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)	p.Q70*(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GTTTGCATCTCAGCAGCAAGT	0.527																																					Melanoma(96;1023 1447 10250 19259 33730)	uc002gan.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	breast(2)	2						c.(208-210)CAG>TAG		kinesin family member 1C							105.0	95.0	99.0					17																	4904541		2203	4300	6503	SO:0001587	stop_gained	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4904541C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.208C>T	17.37:g.4904541C>T	ENSP00000320821:p.Gln70*						p.Q70*	NM_006612	NP_006603	O43896	KIF1C_HUMAN			5	534	+			70			Kinesin-motor.		D3DTL6|O75186|Q5U618	Nonsense_Mutation	SNP	ENST00000320785.5	37	c.208C>T	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	38	6.979855	0.97979	.	.	ENSG00000129250	ENST00000320785	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.8408	0.78842	0.0:1.0:0.0:0.0	.	.	.	.	X	70	.	ENSP00000320821:Q70X	Q	+	1	0	KIF1C	4845265	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.610000	0.82949	2.682000	0.91365	0.561000	0.74099	CAG		0.527	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1				35	117	0	0	0	0.004289	0	35	117		
KIF1C	10749	broad.mit.edu	37	17	4905849	4905849	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:4905849C>T	ENST00000320785.5	+	7	877	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	174	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)	p.L174L(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GCACCCCATCCTGGGCCCGTA	0.577																																					Melanoma(96;1023 1447 10250 19259 33730)	uc002gan.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(2)	2						c.(520-522)CTG>TTG		kinesin family member 1C							120.0	122.0	122.0					17																	4905849		2203	4300	6503	SO:0001819	synonymous_variant	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4905849C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.520C>T	17.37:g.4905849C>T							p.L174L	NM_006612	NP_006603	O43896	KIF1C_HUMAN			7	846	+			174			Kinesin-motor.		D3DTL6|O75186|Q5U618	Silent	SNP	ENST00000320785.5	37	c.520C>T	CCDS11065.1																																																																																				0.577	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1				46	174	0	0	0	0.013114	0	46	174		
KIF1C	10749	broad.mit.edu	37	17	4925875	4925875	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:4925875C>G	ENST00000320785.5	+	22	2856	c.2499C>G	c.(2497-2499)ctC>ctG	p.L833L	AC109333.10_ENST00000438266.1_RNA	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	833					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)	p.L833L(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TGGAGGACCTCCGGGCCCACA	0.672																																					Melanoma(96;1023 1447 10250 19259 33730)	uc002gan.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(2)	2						c.(2497-2499)CTC>CTG		kinesin family member 1C							37.0	38.0	37.0					17																	4925875		2199	4296	6495	SO:0001819	synonymous_variant	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4925875C>G	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2499C>G	17.37:g.4925875C>G							p.L833L	NM_006612	NP_006603	O43896	KIF1C_HUMAN			22	2825	+			833			Potential.		D3DTL6|O75186|Q5U618	Silent	SNP	ENST00000320785.5	37	c.2499C>G	CCDS11065.1																																																																																				0.672	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1				5	12	0	0	0	0.000602	0	5	12		
STX8	9482	broad.mit.edu	37	17	9448576	9448576	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:9448576C>T	ENST00000306357.4	-	4	663	c.236G>A	c.(235-237)aGa>aAa	p.R79K	STX8_ENST00000574431.1_5'UTR|RP11-565F19.3_ENST00000574460.1_RNA	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	79					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.R79K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						GAGGTTCTGTCTTCGGTCCCC	0.398																																						uc002glx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(235-237)AGA>AAA		syntaxin 8							141.0	128.0	133.0					17																	9448576		2203	4300	6503	SO:0001583	missense	9482				transport	endoplasmic reticulum|integral to plasma membrane		g.chr17:9448576C>T	AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.236G>A	17.37:g.9448576C>T	ENSP00000305255:p.Arg79Lys						p.R79K	NM_004853	NP_004844	Q9UNK0	STX8_HUMAN			4	386	-			79			Cytoplasmic (Potential).		O60712|Q53XT8	Missense_Mutation	SNP	ENST00000306357.4	37	c.236G>A	CCDS32565.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957635	0.92726	.	.	ENSG00000170310	ENST00000306357	.	.	.	5.97	4.99	0.66335	.	0.039105	0.85682	D	0.000000	T	0.78007	0.4216	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.80892	-0.1179	9	0.62326	D	0.03	-29.5029	15.9788	0.80091	0.0:0.8646:0.1354:0.0	.	79	Q9UNK0	STX8_HUMAN	K	79	.	ENSP00000305255:R79K	R	-	2	0	STX8	9389301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.064000	0.71169	1.499000	0.48617	0.655000	0.94253	AGA		0.398	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3		NM_004853		26	102	0	0	0	0.009535	0	26	102		
DNAH9	1770	broad.mit.edu	37	17	11865486	11865486	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:11865486G>C	ENST00000262442.4	+	68	13214	c.13146G>C	c.(13144-13146)aaG>aaC	p.K4382N	DNAH9_ENST00000608377.1_Missense_Mutation_p.K694N|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.K4306N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4382					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.K4382N(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATGACGAAGAAGAACAGAG	0.547																																						uc002gne.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(13144-13146)AAG>AAC		dynein, axonemal, heavy chain 9 isoform 2							77.0	77.0	77.0					17																	11865486		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11865486G>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13146G>C	17.37:g.11865486G>C	ENSP00000262442:p.Lys4382Asn					DNAH9_uc010coo.2_Missense_Mutation_p.K3600N|DNAH9_uc002gnf.2_Missense_Mutation_p.K694N	p.K4382N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	68	13214	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4382					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.13146G>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630377	0.67015	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.10573	2.86;2.86;2.86	5.04	5.04	0.67666	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23226	-1.0194	10	0.54805	T	0.06	.	18.5748	0.91150	0.0:0.0:1.0:0.0	.	4382	Q9NYC9	DYH9_HUMAN	N	4382;4306;2888;694	ENSP00000262442:K4382N;ENSP00000414874:K4306N;ENSP00000379323:K694N	ENSP00000262442:K4382N	K	+	3	2	DNAH9	11806211	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	5.229000	0.65316	2.618000	0.88619	0.655000	0.94253	AAG		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2		NM_001372		21	82	0	0	0	0.010504	0	21	82		
FLCN	201163	broad.mit.edu	37	17	17116970	17116970	+	Nonstop_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:17116970C>G	ENST00000285071.4	-	14	2193	c.1739G>C	c.(1738-1740)tGa>tCa	p.*580S	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	0					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)	p.*580S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGTGACGGGTCAGTTCCGAGA	0.582									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													uc002gra.3		NaN																	1	Nonstop extension(1)		urinary_tract(1)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						c.(1738-1740)TGA>TCA		folliculin isoform 1							159.0	133.0	142.0					17																	17116970		2203	4300	6503	SO:0001578	stop_lost	201163	Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17116970C>G	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1739G>C	17.37:g.17116970C>G						PLD6_uc010cpn.2_Intron	p.*580S	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN			14	2243	-			580					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Nonstop_Mutation	SNP	ENST00000285071.4	37	c.1739G>C	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638178	0.29157	.	.	ENSG00000154803	ENST00000285071	.	.	.	5.46	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1571	0.25643	0.1674:0.7226:0.0:0.11	.	.	.	.	S	580	.	.	X	-	2	2	FLCN	17057695	1.000000	0.71417	0.315000	0.25238	0.041000	0.13682	2.684000	0.46951	1.288000	0.44600	0.561000	0.74099	TGA		0.582	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1		NM_144606		33	104	0	0	0	0.013726	0	33	104		
ULK2	9706	broad.mit.edu	37	17	19689261	19689261	+	Missense_Mutation	SNP	C	C	G	rs370554678		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:19689261C>G	ENST00000395544.4	-	21	2739	c.2240G>C	c.(2239-2241)aGa>aCa	p.R747T	ULK2_ENST00000361658.2_Missense_Mutation_p.R747T	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	747					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R747T(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGAGGTTGTTCTTGTTCGAAG	0.463																																						uc002gwm.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|large_intestine(1)|stomach(1)	4						c.(2239-2241)AGA>ACA		unc-51-like kinase 2							81.0	78.0	79.0					17																	19689261		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19689261C>G	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2240G>C	17.37:g.19689261C>G	ENSP00000378914:p.Arg747Thr					ULK2_uc002gwn.2_Missense_Mutation_p.R747T	p.R747T	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN			21	2749	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		747					A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.2240G>C	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.460138	0.63401	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.69685	-0.42;-0.42	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	L	0.56769	1.78	0.49687	D	0.999816	B	0.18741	0.03	B	0.18561	0.022	T	0.60632	-0.7225	10	0.36615	T	0.2	-21.0886	18.4087	0.90543	0.0:1.0:0.0:0.0	.	747	Q8IYT8	ULK2_HUMAN	T	747	ENSP00000354877:R747T;ENSP00000378914:R747T	ENSP00000354877:R747T	R	-	2	0	ULK2	19629853	1.000000	0.71417	0.995000	0.50966	0.876000	0.50452	7.147000	0.77382	2.602000	0.87976	0.536000	0.68110	AGA		0.463	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2		NM_014683		18	58	0	0	0	0.007413	0	18	58		
KIAA0100	9703	broad.mit.edu	37	17	26945942	26945942	+	Missense_Mutation	SNP	C	C	T	rs200543420		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:26945942C>T	ENST00000528896.2	-	32	5764	c.5690G>A	c.(5689-5691)cGa>cAa	p.R1897Q	SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1754Q|KIAA0100_ENST00000579924.2_5'UTR|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1754Q|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1897						extracellular region (GO:0005576)		p.R1897Q(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTGCTGCTTTCGCAGCTCCAT	0.527																																						uc002hbu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)|skin(1)	4						c.(5689-5691)CGA>CAA		hypothetical protein LOC9703 precursor							108.0	89.0	95.0					17																	26945942		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26945942C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5690G>A	17.37:g.26945942C>T	ENSP00000436773:p.Arg1897Gln					KIAA0100_uc002hbt.2_Missense_Mutation_p.R226Q	p.R1897Q	NM_014680	NP_055495	Q14667	K0100_HUMAN			32	5789	-	Lung NSC(42;0.00431)		1897					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.5690G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370453	0.95900	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.25250	1.81;1.82	5.36	5.36	0.76844	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43897	0.1268	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.07829	-1.0752	10	0.23302	T	0.38	.	18.6657	0.91489	0.0:1.0:0.0:0.0	.	1897	Q14667	K0100_HUMAN	Q	1897;1867;1897;1754	ENSP00000436773:R1897Q;ENSP00000446443:R1754Q	ENSP00000005905:R1897Q	R	-	2	0	KIAA0100	23970069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.340000	0.79292	2.518000	0.84900	0.655000	0.94253	CGA		0.527	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		18	71	0	0	0	0.014323	0	18	71		
CORO6	84940	broad.mit.edu	37	17	27945892	27945892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:27945892C>T	ENST00000445145.2	-	4	550	c.549G>A	c.(547-549)tgG>tgA	p.W183*	CORO6_ENST00000456796.3_5'Flank|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000388767.3_Nonsense_Mutation_p.W183*|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000345068.5_Nonsense_Mutation_p.W183*|CORO6_ENST00000584969.1_Nonsense_Mutation_p.W183*|RP11-68I3.10_ENST00000582367.1_RNA|CORO6_ENST00000580212.1_Nonsense_Mutation_p.W183*			Q6QEF8	CORO6_HUMAN	coronin 6	183					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)	p.W183*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CGTTGCTGTTCCAGCACACAC	0.577																																						uc002hel.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(547-549)TGG>TGA		coronin 6							81.0	85.0	84.0					17																	27945892		2149	4254	6403	SO:0001587	stop_gained	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27945892C>T	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.549G>A	17.37:g.27945892C>T	ENSP00000393624:p.Trp183*					CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank	p.W183*	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN			4	551	-			183			WD 3.		B3KU26|Q71MF3|Q8WYH7|Q96K02	Nonsense_Mutation	SNP	ENST00000445145.2	37	c.549G>A		.	.	.	.	.	.	.	.	.	.	C	21.6	4.166269	0.78339	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145	.	.	.	5.67	5.67	0.87782	.	0.323120	0.36034	N	0.002826	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5349	20.1313	0.98000	0.0:1.0:0.0:0.0	.	.	.	.	X	254;183;183	.	ENSP00000344562:W254X	W	-	3	0	CORO6	24970018	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.398000	0.79919	2.837000	0.97791	0.655000	0.94253	TGG		0.577	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1		NM_032854		24	75	0	0	0	0.014323	0	24	75		
RAB11FIP4	84440	broad.mit.edu	37	17	29850554	29850554	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:29850554C>A	ENST00000325874.8	+	8	1183	c.954C>A	c.(952-954)ttC>ttA	p.F318L	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.F216L	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	318	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.F318L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GCAGCAACTTCAGCAGCAGCA	0.602																																						uc002hgn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(952-954)TTC>TTA		RAB11 family interacting protein 4 (class II)							132.0	124.0	127.0					17																	29850554		2203	4300	6503	SO:0001583	missense	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29850554C>A	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.954C>A	17.37:g.29850554C>A	ENSP00000312837:p.Phe318Leu					RAB11FIP4_uc002hgo.2_Missense_Mutation_p.F216L	p.F318L	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN			8	1183	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	318			Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	c.954C>A	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	C	7.409	0.634411	0.14322	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.78	1.41	0.22369	.	0.110101	0.64402	D	0.000006	T	0.14442	0.0349	N	0.01277	-0.915	0.47905	D	0.999542	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.04664	-1.0935	8	.	.	.	-28.2163	4.9985	0.14253	0.0:0.6048:0.1525:0.2428	.	216;318	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	L	318	.	.	F	+	3	2	RAB11FIP4	26874674	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	0.951000	0.29135	0.391000	0.25143	0.484000	0.47621	TTC		0.602	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2		NM_032932		34	113	1	0	6.84511e-11	0.003271	7.02684e-11	34	113		
SPACA3	124912	broad.mit.edu	37	17	31318969	31318969	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:31318969C>T	ENST00000269053.3	+	1	83	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	SPACA3_ENST00000580599.1_Intron|SPACA3_ENST00000394638.1_Silent_p.L5L	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	5					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)	p.L5L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GGTCTCAGCTCTGCGGGGAGC	0.607																																						uc002hhs.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(13-15)CTG>TTG		sperm acrosome associated 3							81.0	63.0	69.0					17																	31318969		2203	4300	6503	SO:0001819	synonymous_variant	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31318969C>T	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.13C>T	17.37:g.31318969C>T						SPACA3_uc010cte.1_5'Flank	p.L5L	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		1	88	+			5			Cytoplasmic (Potential).		Q7Z4Y5	Silent	SNP	ENST00000269053.3	37	c.13C>T	CCDS11275.1																																																																																				0.607	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1		NM_173847		4	33	0	0	0	0.00308	0	4	33		
UNC45B	146862	broad.mit.edu	37	17	33507615	33507615	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:33507615G>A	ENST00000268876.5	+	18	2396	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K	UNC45B_ENST00000394570.2_Missense_Mutation_p.E765K|UNC45B_ENST00000591048.1_Missense_Mutation_p.E686K|UNC45B_ENST00000433649.1_Missense_Mutation_p.E765K|UNC45B_ENST00000378449.1_Missense_Mutation_p.E686K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	767					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E767K(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCCAGACATCGAGAACTACAT	0.547																																						uc002hja.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(2)|breast(1)	6						c.(2299-2301)GAG>AAG		cardiomyopathy associated 4 isoform 1							85.0	80.0	81.0					17																	33507615		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33507615G>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2299G>A	17.37:g.33507615G>A	ENSP00000268876:p.Glu767Lys					UNC45B_uc002hjb.2_Missense_Mutation_p.E765K|UNC45B_uc002hjc.2_Missense_Mutation_p.E765K|UNC45B_uc010cto.2_Missense_Mutation_p.E686K	p.E767K	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			18	2396	+		Ovarian(249;0.17)	767			ARM 3.		Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.2299G>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	36	5.803646	0.96967	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.46819	0.86;1.59;0.86	5.2	5.2	0.72013	Armadillo-like helical (1);Armadillo-type fold (1);	0.101968	0.64402	D	0.000003	T	0.77246	0.4102	M	0.93328	3.405	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.78314	0.991;0.974;0.984	D	0.84012	0.0349	10	0.87932	D	0	-40.761	17.7336	0.88386	0.0:0.0:1.0:0.0	.	686;765;767	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	K	767;767;765;686	ENSP00000268876:E767K;ENSP00000412840:E765K;ENSP00000367710:E686K	ENSP00000268876:E767K	E	+	1	0	UNC45B	30531728	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.737000	0.98831	2.427000	0.82271	0.462000	0.41574	GAG		0.547	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2		NM_173167		15	66	0	0	0	0.004007	0	15	66		
CCL3	6348	broad.mit.edu	37	17	34416051	34416051	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:34416051C>G	ENST00000225245.5	-	3	328	c.246G>C	c.(244-246)caG>caC	p.Q82H	AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000592728.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	82					astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)	p.Q82H(1)		breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGACATATTTCTGGACCCACT	0.617																																						uc002hkv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(244-246)CAG>CAC		chemokine (C-C motif) ligand 3							129.0	126.0	127.0					17																	34416051		2203	4300	6503	SO:0001583	missense	6348				cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity	g.chr17:34416051C>G	M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"""Chemokine ligands"", ""Endogenous ligands"""	10627	protein-coding gene	gene with protein product		182283	"""small inducible cytokine A3 (homologous to mouse Mip-1a)"""	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.246G>C	17.37:g.34416051C>G	ENSP00000225245:p.Gln82His						p.Q82H	NM_002983	NP_002974	P10147	CCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	348	-		Ovarian(249;0.17)	82						Missense_Mutation	SNP	ENST00000225245.5	37	c.246G>C	CCDS11307.1	.	.	.	.	.	.	.	.	.	.	.	14.53	2.563753	0.45694	.	.	ENSG00000006075	ENST00000225245	T	0.06687	3.27	5.82	4.81	0.61882	Chemokine interleukin-8-like domain (3);	0.076249	0.53938	D	0.000059	T	0.17831	0.0428	.	.	.	0.38367	D	0.944776	P	0.41102	0.738	P	0.52343	0.696	T	0.01757	-1.1280	9	0.87932	D	0	.	7.7135	0.28692	0.0:0.8677:0.0:0.1323	.	82	P10147	CCL3_HUMAN	H	82	ENSP00000225245:Q82H	ENSP00000225245:Q82H	Q	-	3	2	CCL3	31440164	0.387000	0.25188	0.996000	0.52242	0.225000	0.24961	0.611000	0.24268	1.288000	0.44600	0.650000	0.86243	CAG		0.617	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256581.1		NM_002983		43	161	0	0	0	0.010771	0	43	161		
DUSP14	11072	broad.mit.edu	37	17	35872727	35872727	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:35872727C>G	ENST00000487847.1	+	2	1331	c.353C>G	c.(352-354)tCa>tGa	p.S118*	DUSP14_ENST00000394386.1_Nonsense_Mutation_p.S118*|DUSP14_ENST00000394389.4_Nonsense_Mutation_p.S118*			O95147	DUS14_HUMAN	dual specificity phosphatase 14	118	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)		MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|poly(A) RNA binding (GO:0044822)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S118*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				GTGAGCCGCTCAGCCACGCTG	0.592																																						uc002hnx.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(352-354)TCA>TGA		dual specificity phosphatase 14							72.0	59.0	63.0					17																	35872727		2203	4300	6503	SO:0001587	stop_gained	11072						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr17:35872727C>G	AF038844	CCDS11320.1	17q12	2014-05-06			ENSG00000161326	ENSG00000276023		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	17007	protein-coding gene	gene with protein product	"""MKP-1 like protein tyrosine phosphatase"""	606618				11123293	Standard	XM_005256977		Approved	MKP-L, MKP6	uc002hnx.2	O95147	OTTHUMG00000188472	ENST00000487847.1:c.353C>G	17.37:g.35872727C>G	ENSP00000466299:p.Ser118*					DUSP14_uc002hny.2_Nonsense_Mutation_p.S105*|DUSP14_uc002hnz.2_Nonsense_Mutation_p.S105*	p.S118*	NM_007026	NP_008957	O95147	DUS14_HUMAN			3	647	+		Breast(25;0.00637)|Ovarian(249;0.15)	118			Tyrosine-protein phosphatase.			Nonsense_Mutation	SNP	ENST00000487847.1	37	c.353C>G	CCDS11320.1	.	.	.	.	.	.	.	.	.	.	C	38	6.640509	0.97726	.	.	ENSG00000161326	ENST00000394389;ENST00000394386	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	118	.	ENSP00000377910:S118X	S	+	2	0	DUSP14	32946840	1.000000	0.71417	0.996000	0.52242	0.793000	0.44817	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	TCA		0.592	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256680.3		NM_007026		13	63	0	0	0	0.003163	0	13	63		
CDK12	51755	broad.mit.edu	37	17	37618767	37618767	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:37618767C>T	ENST00000447079.4	+	1	476	c.443C>T	c.(442-444)tCg>tTg	p.S148L	CDK12_ENST00000430627.2_Missense_Mutation_p.S148L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	148					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.S148L(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GACCGGATATCGGGAAGTTCA	0.502			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2		NaN		Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					1	Substitution - Missense(1)		urinary_tract(1)	ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(442-444)TCG>TTG		Cdc2-related kinase, arginine/serine-rich							70.0	73.0	72.0					17																	37618767		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37618767C>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.443C>T	17.37:g.37618767C>T	ENSP00000398880:p.Ser148Leu	TCGA Ovarian(9;0.13)				CDK12_uc010wef.1_Missense_Mutation_p.S148L|CDK12_uc002hrw.3_Missense_Mutation_p.S148L	p.S148L	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			1	1029	+			148					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.443C>T	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774120	0.49786	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.43688	0.94;0.94	5.08	5.08	0.68730	.	0.000000	0.36338	N	0.002655	T	0.43831	0.1265	N	0.14661	0.345	0.23869	N	0.99662	D;D;D	0.76494	0.985;0.998;0.999	P;D;D	0.71870	0.682;0.945;0.975	T	0.31696	-0.9934	10	0.33940	T	0.23	-4.7225	11.9058	0.52711	0.0:0.9199:0.0:0.0801	.	148;148;148	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	L	148	ENSP00000407720:S148L;ENSP00000398880:S148L	ENSP00000407720:S148L	S	+	2	0	CDK12	34872293	0.110000	0.22057	0.700000	0.30305	0.928000	0.56348	3.250000	0.51445	2.363000	0.80096	0.561000	0.74099	TCG		0.502	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4		NM_016507		21	77	0	0	0	0.008871	0	21	77		
ERBB2	2064	broad.mit.edu	37	17	37884259	37884259	+	Missense_Mutation	SNP	G	G	C	rs144533600		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:37884259G>C	ENST00000269571.5	+	27	3889	c.3730G>C	c.(3730-3732)Gag>Cag	p.E1244Q	ERBB2_ENST00000445658.2_Missense_Mutation_p.E968Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.E1229Q|ERBB2_ENST00000584450.1_3'UTR|MIR4728_ENST00000580969.1_RNA|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000584601.1_Missense_Mutation_p.E1214Q|ERBB2_ENST00000406381.2_Missense_Mutation_p.E1214Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.E1214Q			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1244					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.E1244Q(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ACCTACGGCAGAGAACCCAGA	0.607		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		1	Substitution - Missense(1)		urinary_tract(1)	lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(3730-3732)GAG>CAG		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						32.0	34.0	33.0					17																	37884259		2202	4299	6501	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37884259G>C	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3730G>C	17.37:g.37884259G>C	ENSP00000269571:p.Glu1244Gln	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.E1214Q|ERBB2_uc010cwa.2_Missense_Mutation_p.E1229Q|ERBB2_uc002hsp.2_Missense_Mutation_p.E1047Q|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Missense_Mutation_p.E968Q	p.E1244Q	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	27	3968	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1244			Cytoplasmic (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.3730G>C	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293587	0.80914	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83335	-1.64;-1.65;-1.71;-1.65;-1.64	4.8	4.8	0.61643	.	.	.	.	.	D	0.86669	0.5988	L	0.32530	0.975	0.80722	D	1	P;D;D	0.89917	0.952;1.0;0.99	P;D;P	0.85130	0.742;0.997;0.831	D	0.87532	0.2453	9	0.51188	T	0.08	.	16.6552	0.85226	0.0:0.0:1.0:0.0	.	968;1229;1244	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	Q	1214;1229;968;1244;1214	ENSP00000385185:E1214Q;ENSP00000446466:E1229Q;ENSP00000404047:E968Q;ENSP00000269571:E1244Q;ENSP00000443562:E1214Q	ENSP00000269571:E1244Q	E	+	1	0	ERBB2	35137785	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.852000	0.92215	2.217000	0.71921	0.563000	0.77884	GAG		0.607	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2				22	66	0	0	0	0.003954	0	22	66		
CASC3	22794	broad.mit.edu	37	17	38319905	38319905	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:38319905C>T	ENST00000264645.7	+	7	1183	c.957C>T	c.(955-957)ttC>ttT	p.F319F		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	319					gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)	p.F319F(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CTGGGGGCTTCAAGGAAGGTC	0.547																																						uc010cwt.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(955-957)TTC>TTT		metastatic lymph node 51							235.0	224.0	228.0					17																	38319905		2203	4300	6503	SO:0001819	synonymous_variant	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38319905C>T	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.957C>T	17.37:g.38319905C>T						CASC3_uc010cws.1_Silent_p.F319F|CASC3_uc002hue.2_Silent_p.F319F	p.F319F	NM_007359	NP_031385	O15234	CASC3_HUMAN			7	1252	+			319					A8K8R0	Silent	SNP	ENST00000264645.7	37	c.957C>T	CCDS11362.1																																																																																				0.547	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3		NM_007359		96	330	0	0	0	0.01441	0	96	330		
RARA	5914	broad.mit.edu	37	17	38512341	38512341	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:38512341G>A	ENST00000254066.5	+	9	1707	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	RARA_ENST00000394081.3_Missense_Mutation_p.E413K|RARA_ENST00000394086.3_Missense_Mutation_p.E434K|RARA_ENST00000425707.3_Missense_Mutation_p.E321K|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Missense_Mutation_p.E418K	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	418	Ligand-binding.|Required for binding corepressor NCOR1.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|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)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)	p.E418K(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GGAGAACTCAGAGGGCCTGGA	0.692			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																	uc002huk.1		NaN		Dom	yes		17	17q12	5914	T	"""retinoic acid receptor, alpha"""			L	PML|ZNF145|TIF1|NUMA1|NPM1		APL		1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)|breast(1)	3						c.(1252-1254)GAG>AAG		retinoic acid receptor, alpha isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)						10.0	9.0	9.0					17																	38512341		2183	4268	6451	SO:0001583	missense	5914				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38512341G>A	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.1252G>A	17.37:g.38512341G>A	ENSP00000254066:p.Glu418Lys					RARA_uc002hul.3_Missense_Mutation_p.E418K|RARA_uc010wfe.1_Missense_Mutation_p.E321K|RARA_uc002hun.1_Missense_Mutation_p.E413K	p.E418K	NM_000964	NP_000955	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		9	1707	+		Breast(137;0.00328)	418			Ligand-binding.|Required for binding corepressor NCOR1.		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	c.1252G>A	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163245	0.78226	.	.	ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149;ENST00000420042	D;D;D;D;D	0.93076	-3.12;-3.16;-3.12;-3.08;-2.98	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.93485	0.7921	M	0.84683	2.71	0.58432	D	0.999999	P;P;P	0.44627	0.823;0.583;0.839	B;B;B	0.40565	0.142;0.271;0.333	D	0.94471	0.7685	10	0.87932	D	0	.	14.319	0.66473	0.0:0.0:0.8511:0.1489	.	321;413;418	B8Y636;F1D8N9;P10276	.;.;RARA_HUMAN	K	418;321;418;434;413;411;305	ENSP00000254066:E418K;ENSP00000389993:E321K;ENSP00000377649:E418K;ENSP00000377648:E434K;ENSP00000377643:E413K	ENSP00000254066:E418K	E	+	1	0	RARA	35765867	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.530000	0.81962	2.711000	0.92665	0.561000	0.74099	GAG		0.692	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2				3	20	0	0	0	0.004672	0	3	20		
CCR7	1236	broad.mit.edu	37	17	38711549	38711549	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:38711549G>C	ENST00000246657.2	-	3	644	c.582C>G	c.(580-582)ctC>ctG	p.L194L	CCR7_ENST00000579344.1_Silent_p.L188L	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	194					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)	p.L194L(1)		breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CACTGTACAGGAGCTCTGGGA	0.582																																						uc002huw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(1)	1						c.(580-582)CTC>CTG		chemokine (C-C motif) receptor 7 precursor							64.0	56.0	59.0					17																	38711549		2203	4300	6503	SO:0001819	synonymous_variant	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711549G>C		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.582C>G	17.37:g.38711549G>C							p.L194L	NM_001838	NP_001829	P32248	CCR7_HUMAN			3	645	-		Breast(137;0.000496)	194			Extracellular (Potential).			Silent	SNP	ENST00000246657.2	37	c.582C>G	CCDS11369.1																																																																																				0.582	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1				20	34	0	0	0	0.012319	0	20	34		
KRT31	3881	broad.mit.edu	37	17	39550344	39550344	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:39550344G>C	ENST00000251645.2	-	7	1227	c.1175C>G	c.(1174-1176)tCt>tGt	p.S392C		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	392	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.S392C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				AGGGACACAAGAGGTACAGGG	0.612																																						uc002hwn.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1174-1176)TCT>TGT		keratin 31							120.0	95.0	104.0					17																	39550344		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39550344G>C	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.1175C>G	17.37:g.39550344G>C	ENSP00000251645:p.Ser392Cys					KRT31_uc010cxn.2_3'UTR	p.S392C	NM_002277	NP_002268	Q15323	K1H1_HUMAN			7	1228	-		Breast(137;0.000496)	392			Tail.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.1175C>G	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	g	10.44	1.351045	0.24512	.	.	ENSG00000094796	ENST00000251645	D	0.82255	-1.59	5.38	5.38	0.77491	.	0.000000	0.31734	U	0.007142	T	0.72366	0.3451	N	0.19112	0.55	0.21290	N	0.999734	B	0.21821	0.061	B	0.10450	0.005	T	0.62656	-0.6808	10	0.40728	T	0.16	.	14.6324	0.68666	0.0:0.0:1.0:0.0	.	392	Q15323	K1H1_HUMAN	C	392	ENSP00000251645:S392C	ENSP00000251645:S392C	S	-	2	0	KRT31	36803870	0.998000	0.40836	0.967000	0.41034	0.005000	0.04900	4.654000	0.61469	2.525000	0.85131	0.655000	0.94253	TCT		0.612	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1		NM_002277		33	108	0	0	0	0.010818	0	33	108		
DHX58	79132	broad.mit.edu	37	17	40260106	40260106	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:40260106C>T	ENST00000251642.3	-	7	921	c.699G>A	c.(697-699)ctG>ctA	p.L233L		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	233					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.L233L(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGAGCTTCTTCAGCAAGTCCC	0.562																																						uc002hyw.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(697-699)CTG>CTA		RNA helicase LGP2							111.0	98.0	102.0					17																	40260106		2203	4300	6503	SO:0001819	synonymous_variant	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40260106C>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.699G>A	17.37:g.40260106C>T						DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Silent_p.L226L	p.L233L	NM_024119	NP_077024	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	922	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	233					Q9HAM6	Silent	SNP	ENST00000251642.3	37	c.699G>A	CCDS11416.1																																																																																				0.562	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1		NM_024119		17	70	0	0	0	0.007413	0	17	70		
GHDC	84514	broad.mit.edu	37	17	40345373	40345373	+	Missense_Mutation	SNP	C	C	T	rs201383305		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:40345373C>T	ENST00000301671.8	-	2	668	c.227G>A	c.(226-228)gGa>gAa	p.G76E	GHDC_ENST00000428494.2_Missense_Mutation_p.G76E|GHDC_ENST00000593209.1_Missense_Mutation_p.G76E|GHDC_ENST00000587427.1_Missense_Mutation_p.G76E|GHDC_ENST00000590520.1_5'UTR|GHDC_ENST00000436923.2_Missense_Mutation_p.G76E|GHDC_ENST00000414034.3_Missense_Mutation_p.G76E			Q8N2G8	GHDC_HUMAN	GH3 domain containing	76						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G76E(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GCGCTGGGCTCCCTGTAGACA	0.647																																						uc002hzd.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(226-228)GGA>GAA		LGP1 homolog isoform 1							20.0	18.0	19.0					17																	40345373		2201	4298	6499	SO:0001583	missense	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40345373C>T	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.227G>A	17.37:g.40345373C>T	ENSP00000301671:p.Gly76Glu					GHDC_uc002hzg.1_Missense_Mutation_p.G76E|GHDC_uc010wgg.1_Missense_Mutation_p.G76E|GHDC_uc002hze.3_Missense_Mutation_p.G76E|GHDC_uc002hzf.3_Missense_Mutation_p.G76E|GHDC_uc010cxz.2_RNA	p.G76E	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	2	711	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	76					B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	c.227G>A	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583461	0.46006	.	.	ENSG00000167925	ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	5.43	2.36	0.29203	.	0.580895	0.16637	N	0.205815	T	0.22742	0.0549	N	0.17082	0.46	0.09310	N	1	B;B;B	0.23806	0.003;0.091;0.003	B;B;B	0.19946	0.004;0.027;0.005	T	0.19095	-1.0316	8	.	.	.	1.3213	7.0471	0.25052	0.0:0.7123:0.0:0.2876	.	76;76;76	E9PDB5;Q8N2G8-2;Q8N2G8	.;.;GHDC_HUMAN	E	76	.	.	G	-	2	0	GHDC	37598899	0.001000	0.12720	0.023000	0.16930	0.378000	0.30076	-0.034000	0.12225	0.263000	0.21812	0.655000	0.94253	GGA		0.647	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1		NM_032484		4	12	0	0	0	0.001168	0	4	12		
ATP6V0A1	535	broad.mit.edu	37	17	40622219	40622219	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:40622219C>A	ENST00000343619.4	+	5	529	c.406C>A	c.(406-408)Cag>Aag	p.Q136K	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.Q136K|ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000585525.1_Intron|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.Q136K|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.Q136K	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	136					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.Q136K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCGCAAAACTCAGCAATTTTT	0.338																																						uc002hzr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(406-408)CAG>AAG		ATPase, H+ transporting, lysosomal V0 subunit a1							26.0	29.0	28.0					17																	40622219		2202	4299	6501	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40622219C>A	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.406C>A	17.37:g.40622219C>A	ENSP00000342951:p.Gln136Lys					ATP6V0A1_uc002hzq.2_Missense_Mutation_p.Q136K|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.Q136K|ATP6V0A1_uc010wgj.1_Intron|ATP6V0A1_uc010wgk.1_Intron|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc010wgl.1_5'UTR|ATP6V0A1_uc002hzp.1_Missense_Mutation_p.Q136K	p.Q136K	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	5	573	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	136			Cytoplasmic (Potential).		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.406C>A	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692160	0.88735	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.91613	0.7350	M	0.64630	1.985	0.80722	D	1	P;D;P;P	0.76494	0.815;0.999;0.881;0.938	P;D;P;P	0.80764	0.643;0.994;0.614;0.878	D	0.89223	0.3572	10	0.37606	T	0.19	-24.3335	20.6439	0.99570	0.0:1.0:0.0:0.0	.	136;136;136;136	B7Z3B7;Q93050;Q93050-1;F5H569	.;VPP1_HUMAN;.;.	K	136	ENSP00000342951:Q136K;ENSP00000444676:Q136K;ENSP00000377415:Q136K;ENSP00000264649:Q136K	ENSP00000264649:Q136K	Q	+	1	0	ATP6V0A1	37875745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.890000	0.99128	0.650000	0.86243	CAG		0.338	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1		NM_001130020		8	37	1	0	5.18039e-06	0.00308	5.2655e-06	8	37		
MLX	6945	broad.mit.edu	37	17	40722180	40722180	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:40722180C>G	ENST00000246912.4	+	7	872	c.819C>G	c.(817-819)atC>atG	p.I273M	MLX_ENST00000435881.2_Missense_Mutation_p.I219M|MLX_ENST00000346833.4_Missense_Mutation_p.I189M	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	273					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.I273M(1)		kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TCAGCTGGATCGAGGAGCACT	0.532																																					GBM(121;657 1601 4665 24731 34640)	uc002iag.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(817-819)ATC>ATG		transcription factor-like protein 4 isoform							96.0	80.0	85.0					17																	40722180		2203	4300	6503	SO:0001583	missense	6945				energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr17:40722180C>G	AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	11645	protein-coding gene	gene with protein product		602976	"""transcription factor-like 4"", ""MAX-like protein X"""	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.819C>G	17.37:g.40722180C>G	ENSP00000246912:p.Ile273Met					MLX_uc002iaf.2_Missense_Mutation_p.I219M|MLX_uc002iah.2_Missense_Mutation_p.I189M	p.I273M	NM_170607	NP_733752	Q9UH92	MLX_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	7	884	+		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)	273					A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	ENST00000246912.4	37	c.819C>G	CCDS11430.1	.	.	.	.	.	.	.	.	.	.	c	15.75	2.925810	0.52759	.	.	ENSG00000108788	ENST00000346833;ENST00000246912;ENST00000435881	T;T;T	0.81078	-1.14;-1.45;-1.16	5.72	-1.83	0.07833	.	0.000000	0.85682	D	0.000000	T	0.81346	0.4803	L	0.53249	1.67	0.51482	D	0.99992	D;D;D	0.69078	0.996;0.997;0.986	D;D;D	0.65773	0.938;0.914;0.929	T	0.76820	-0.2818	10	0.72032	D	0.01	-8.1094	4.8007	0.13296	0.3309:0.349:0.0:0.3202	.	189;273;219	Q9UH92-2;Q9UH92;Q9UH92-3	.;MLX_HUMAN;.	M	189;273;219	ENSP00000320913:I189M;ENSP00000246912:I273M;ENSP00000416627:I219M	ENSP00000246912:I273M	I	+	3	3	MLX	37975706	0.006000	0.16342	0.991000	0.47740	0.991000	0.79684	-1.184000	0.03076	-0.400000	0.07656	-0.405000	0.06341	ATC		0.532	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1		NM_170607		11	66	0	0	0	0.010729	0	11	66		
ARL4D	379	broad.mit.edu	37	17	41477529	41477529	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:41477529G>A	ENST00000320033.4	+	2	636	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	143					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L143L(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCGGGGCACTGAGCGCTGCTG	0.657																																						uc002idt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(427-429)CTG>CTA		ADP-ribosylation factor-like 4D							20.0	21.0	20.0					17																	41477529		2201	4299	6500	SO:0001819	synonymous_variant	379				protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:41477529G>A	AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	656	protein-coding gene	gene with protein product		600732	"""ADP-ribosylation factor 4-like"""	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.429G>A	17.37:g.41477529G>A							p.L143L	NM_001661	NP_001652	P49703	ARL4D_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	2	610	+		Breast(137;0.00908)	143					B2RC59|D3DX43	Silent	SNP	ENST00000320033.4	37	c.429G>A	CCDS11463.1																																																																																				0.657	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2		NM_001661		6	11	0	0	0	0.001168	0	6	11		
ITGB3	3690	broad.mit.edu	37	17	45384893	45384893	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:45384893C>G	ENST00000559488.1	+	14	2207	c.2191C>G	c.(2191-2193)Ctg>Gtg	p.L731V	RP11-290H9.4_ENST00000575039.1_RNA|RP11-290H9.4_ENST00000576345.1_RNA|ITGB3_ENST00000560629.1_Missense_Mutation_p.S719C|ITGB3_ENST00000435993.2_Missense_Mutation_p.L684V	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	731					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.L684V(1)|p.L731V(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	GGGGGCCATTCTGCTCATTGG	0.547																																						uc002ilj.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(5)|large_intestine(1)	6						c.(2191-2193)CTG>GTG		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)						85.0	69.0	75.0					17																	45384893		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45384893C>G		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.2191C>G	17.37:g.45384893C>G	ENSP00000452786:p.Leu731Val					ITGB3_uc010wkr.1_RNA	p.L731V	NM_000212	NP_000203	P05106	ITB3_HUMAN			14	2211	+			731			Helical; (Potential).		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.2191C>G	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354037	0.41700	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.89123	-2.47	5.48	-1.09	0.09904	.	0.000000	0.85682	D	0.000000	D	0.85504	0.5712	L	0.28115	0.83	0.49915	D	0.999839	D	0.89917	1.0	D	0.83275	0.996	T	0.79487	-0.1783	10	0.13108	T	0.6	.	5.024	0.14376	0.1385:0.4131:0.0:0.4484	.	731	P05106	ITB3_HUMAN	V	731;684	ENSP00000407801:L684V	ENSP00000262017:L731V	L	+	1	2	C17orf57	42739892	0.352000	0.24895	0.997000	0.53966	0.961000	0.63080	0.192000	0.17096	0.019000	0.15079	0.563000	0.77884	CTG		0.547	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3		NM_000212		18	53	0	0	0	0.006122	0	18	53		
SKAP1	8631	broad.mit.edu	37	17	46239837	46239837	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:46239837C>G	ENST00000336915.6	-	11	1041	c.972G>C	c.(970-972)ctG>ctC	p.L324L	SKAP1_ENST00000584924.1_Silent_p.L324L	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	324	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.L324L(1)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TTACCTTGCTCAGAATACGGA	0.433																																						uc002ini.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(970-972)CTG>CTC		src kinase associated phosphoprotein 1 isoform							93.0	79.0	84.0					17																	46239837		2203	4300	6503	SO:0001819	synonymous_variant	8631				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	g.chr17:46239837C>G	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.972G>C	17.37:g.46239837C>G						SKAP1_uc002inj.1_Silent_p.L323L|SKAP1_uc010dbd.1_Silent_p.L229L|SKAP1_uc010dbe.1_Silent_p.L324L	p.L324L	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN			11	1084	-			324			SH3.		D3DTV1|O15268	Silent	SNP	ENST00000336915.6	37	c.972G>C	CCDS32674.1																																																																																				0.433	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1		NM_003726		10	43	0	0	0	0.006214	0	10	43		
SRSF1	6426	broad.mit.edu	37	17	56083263	56083263	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:56083263C>G	ENST00000258962.4	-	3	659	c.451G>C	c.(451-453)Gat>Cat	p.D151H	SRSF1_ENST00000582730.2_Missense_Mutation_p.D151H|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000584773.1_Missense_Mutation_p.D151H|RP11-159D12.5_ENST00000578794.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	151	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D151H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGGTAAACATCAGCATAACAT	0.403																																						uc002ivi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(451-453)GAT>CAT		splicing factor, arginine/serine-rich 1 isoform							129.0	104.0	112.0					17																	56083263		2203	4300	6503	SO:0001583	missense	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56083263C>G		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.451G>C	17.37:g.56083263C>G	ENSP00000258962:p.Asp151His					SFRS1_uc002ivj.2_Missense_Mutation_p.D151H	p.D151H	NM_006924	NP_008855	Q07955	SRSF1_HUMAN		LUAD - Lung adenocarcinoma(1115;0.247)	3	660	-		Colorectal(1115;0.0691)	151			RRM 2.		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	c.451G>C	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201119	0.38905	.	.	ENSG00000136450	ENST00000258962	T	0.17691	2.26	5.65	4.68	0.58851	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51196	-0.8736	10	0.87932	D	0	.	14.8384	0.70201	0.0:0.9308:0.0:0.0692	.	183;151	Q59FA2;Q07955	.;SRSF1_HUMAN	H	151	ENSP00000258962:D151H	ENSP00000258962:D151H	D	-	1	0	SRSF1	53438262	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.410000	0.80065	1.523000	0.49018	0.650000	0.86243	GAT		0.403	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1		NM_006924		17	87	0	0	0	0.006122	0	17	87		
HEATR6	63897	broad.mit.edu	37	17	58156203	58156203	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:58156203C>G	ENST00000184956.6	-	1	89	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	HEATR6_ENST00000585712.1_5'UTR|HEATR6_ENST00000585976.1_Missense_Mutation_p.E25Q|CTD-2319I12.2_ENST00000589740.1_lincRNA	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	25							poly(A) RNA binding (GO:0044822)	p.E25Q(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTGCCTCGCTCAGGGATTGCT	0.662																																						uc002iyk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(73-75)GAG>CAG		HEAT repeat containing 6							26.0	22.0	23.0					17																	58156203		2202	4299	6501	SO:0001583	missense	63897						binding	g.chr17:58156203C>G	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.73G>C	17.37:g.58156203C>G	ENSP00000184956:p.Glu25Gln						p.E25Q	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		1	90	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		25					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.73G>C	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149116	0.57151	.	.	ENSG00000068097	ENST00000184956	T	0.42131	0.98	5.08	1.91	0.25777	.	0.808466	0.11234	N	0.585373	T	0.31765	0.0807	L	0.44542	1.39	0.09310	N	1	B	0.27498	0.18	B	0.24848	0.056	T	0.23868	-1.0176	10	0.45353	T	0.12	-3.009	5.5617	0.17148	0.0:0.6537:0.1641:0.1822	.	25	Q6AI08	HEAT6_HUMAN	Q	25	ENSP00000184956:E25Q	ENSP00000184956:E25Q	E	-	1	0	HEATR6	55510985	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.578000	0.23773	0.360000	0.24265	0.650000	0.86243	GAG		0.662	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1		NM_022070		4	19	0	0	0	0.000602	0	4	19		
MED13	9969	broad.mit.edu	37	17	60072581	60072581	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:60072581C>T	ENST00000397786.2	-	10	2189	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	705					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.E705K(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGGAATTCCTCATCTCCTTCA	0.358																																						uc002izo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(2113-2115)GAG>AAG		mediator complex subunit 13							212.0	183.0	192.0					17																	60072581		1836	4079	5915	SO:0001583	missense	9969				androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60072581C>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2113G>A	17.37:g.60072581C>T	ENSP00000380888:p.Glu705Lys						p.E705K	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			10	2190	-			705					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.2113G>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788215	0.70337	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74315	-0.83	5.32	5.32	0.75619	.	0.108147	0.64402	D	0.000008	T	0.57710	0.2072	N	0.19112	0.55	0.43593	D	0.995941	B	0.31153	0.31	B	0.23419	0.046	T	0.58679	-0.7594	10	0.06236	T	0.91	-18.4301	19.3563	0.94416	0.0:1.0:0.0:0.0	.	705	Q9UHV7	MED13_HUMAN	K	705;704	ENSP00000380888:E705K	ENSP00000262436:E704K	E	-	1	0	MED13	57427363	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.905000	0.75714	2.648000	0.89879	0.557000	0.71058	GAG		0.358	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121		51	118	0	0	0	0.01441	0	51	118		
CCDC47	57003	broad.mit.edu	37	17	61842116	61842116	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:61842116G>A	ENST00000225726.5	-	3	738	c.356C>T	c.(355-357)cCa>cTa	p.P119L	CCDC47_ENST00000403162.3_Missense_Mutation_p.P119L|CCDC47_ENST00000582252.1_Missense_Mutation_p.P119L	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	119					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.P119L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AATCGTTATTGGGTCTTTATT	0.338																																						uc002jbs.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(355-357)CCA>CTA		coiled-coil domain containing 47 precursor							210.0	184.0	193.0					17																	61842116		2201	4299	6500	SO:0001583	missense	57003					integral to membrane	protein binding	g.chr17:61842116G>A	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.356C>T	17.37:g.61842116G>A	ENSP00000225726:p.Pro119Leu					CCDC47_uc010ddx.2_Missense_Mutation_p.P119L|CCDC47_uc002jbt.2_Missense_Mutation_p.P119L	p.P119L	NM_020198	NP_064583	Q96A33	CCD47_HUMAN			3	692	-			119					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	c.356C>T	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465205	0.43839	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.49	5.49	0.81192	.	0.048620	0.85682	D	0.000000	T	0.59649	0.2209	L	0.50333	1.59	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.55101	-0.8193	9	0.51188	T	0.08	-10.7035	18.117	0.89559	0.0:0.0:1.0:0.0	.	119;119	Q96A33-2;Q96A33	.;CCD47_HUMAN	L	119	.	ENSP00000225726:P119L	P	-	2	0	CCDC47	59195848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.295000	0.72744	2.859000	0.98148	0.591000	0.81541	CCA		0.338	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2		NM_020198		32	96	0	0	0	0.012213	0	32	96		
TEX2	55852	broad.mit.edu	37	17	62290676	62290676	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:62290676G>C	ENST00000583097.1	-	2	1074	c.902C>G	c.(901-903)cCt>cGt	p.P301R	TEX2_ENST00000258991.3_Missense_Mutation_p.P301R|TEX2_ENST00000584379.1_Missense_Mutation_p.P301R			Q8IWB9	TEX2_HUMAN	testis expressed 2	301					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.P301R(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GAGCTGAAAAGGCTCATAGAT	0.433																																						uc002jec.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(901-903)CCT>CGT		testis expressed sequence 2							50.0	54.0	53.0					17																	62290676		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62290676G>C	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.902C>G	17.37:g.62290676G>C	ENSP00000462665:p.Pro301Arg					TEX2_uc002jed.2_Missense_Mutation_p.P301R|TEX2_uc002jee.2_Missense_Mutation_p.P301R	p.P301R	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	1075	-			301					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.902C>G		.	.	.	.	.	.	.	.	.	.	G	12.49	1.954772	0.34471	.	.	ENSG00000136478	ENST00000258991	T	0.66815	-0.23	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.81673	0.4872	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81529	-0.0891	10	0.87932	D	0	-15.2612	20.5568	0.99304	0.0:0.0:1.0:0.0	.	301;301	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	R	301	ENSP00000258991:P301R	ENSP00000258991:P301R	P	-	2	0	TEX2	59644408	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.402000	0.97298	2.861000	0.98227	0.655000	0.94253	CCT		0.433	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1		NM_018469		22	55	0	0	0	0.012319	0	22	55		
POLG2	11232	broad.mit.edu	37	17	62493011	62493011	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:62493011C>G	ENST00000539111.2	-	1	143	c.76G>C	c.(76-78)Gat>Cat	p.D26H		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	26					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.D26H(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TGCCCCGCATCTACTCGACCC	0.612																																					Colon(3;18 21 435 17652 48887)	uc002jei.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(76-78)GAT>CAT		DNA polymerase subunit gamma-2, mitochondrial							67.0	67.0	67.0					17																	62493011		2203	4300	6503	SO:0001583	missense	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62493011C>G	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.76G>C	17.37:g.62493011C>G	ENSP00000442563:p.Asp26His					POLG2_uc010deg.1_Missense_Mutation_p.D26H	p.D26H	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		1	159	-	Breast(5;2.15e-14)		26					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	37	c.76G>C	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131598	0.56828	.	.	ENSG00000256525	ENST00000539111	D	0.90324	-2.65	4.45	0.144	0.14824	.	0.991618	0.08204	N	0.981806	D	0.85957	0.5818	L	0.43152	1.355	0.09310	N	1	B;B	0.29716	0.214;0.255	B;B	0.33042	0.146;0.157	T	0.74699	-0.3577	10	0.54805	T	0.06	-0.53	5.9448	0.19213	0.0:0.5243:0.2537:0.222	.	26;26	E5KS15;Q9UHN1	.;DPOG2_HUMAN	H	26	ENSP00000442563:D26H	ENSP00000442563:D26H	D	-	1	0	POLG2	59923473	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.179000	0.16840	-0.067000	0.12976	-0.258000	0.10820	GAT		0.612	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1		NM_007215		39	109	0	0	0	0.009718	0	39	109		
SLC16A6	9120	broad.mit.edu	37	17	66270075	66270075	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:66270075G>A	ENST00000327268.4	-	4	533	c.369C>T	c.(367-369)atC>atT	p.I123I	SLC16A6_ENST00000580666.1_Silent_p.I123I|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	123					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.I123I(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TACCAGAGATGATGCCGATGG	0.483																																						uc002jgz.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(367-369)ATC>ATT		solute carrier family 16, member 6	Pyruvic acid(DB00119)						86.0	78.0	80.0					17																	66270075		2203	4300	6503	SO:0001819	synonymous_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66270075G>A	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.369C>T	17.37:g.66270075G>A						ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Silent_p.I123I	p.I123I	NM_004694	NP_004685	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	557	-	all_cancers(12;1.24e-09)		123			Helical; (Potential).		Q6P1X3	Silent	SNP	ENST00000327268.4	37	c.369C>T	CCDS11675.1																																																																																				0.483	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1		NM_004694		17	49	0	0	0	0.008871	0	17	49		
ABCA8	10351	broad.mit.edu	37	17	66914280	66914280	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:66914280C>G	ENST00000269080.2	-	14	1972	c.1835G>C	c.(1834-1836)aGa>aCa	p.R612T	ABCA8_ENST00000586539.1_Missense_Mutation_p.R652T|ABCA8_ENST00000430352.2_Missense_Mutation_p.R652T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	612	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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.R612T(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)					TACTTGGTGTCTTGAAAAGGG	0.458																																						uc002jhp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1834-1836)AGA>ACA		ATP-binding cassette, sub-family A member 8							174.0	139.0	151.0					17																	66914280		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66914280C>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.1835G>C	17.37:g.66914280C>G	ENSP00000269080:p.Arg612Thr					ABCA8_uc002jhq.2_Missense_Mutation_p.R652T|ABCA8_uc010wqq.1_Missense_Mutation_p.R652T|ABCA8_uc010wqr.1_Missense_Mutation_p.R591T|ABCA8_uc002jhr.2_Missense_Mutation_p.R652T	p.R612T	NM_007168	NP_009099	O94911	ABCA8_HUMAN			14	2014	-	Breast(10;4.56e-13)		612			ABC transporter 1.		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.1835G>C	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273455	0.59649	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.40756	1.02;1.02	4.26	3.29	0.37713	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.52532	D	0.000076	T	0.61451	0.2348	M	0.74881	2.28	0.51767	D	0.99993	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.998;0.998	D;D;D;D;D	0.78314	0.991;0.963;0.984;0.984;0.99	T	0.65504	-0.6152	10	0.87932	D	0	.	11.3647	0.49664	0.0:0.9107:0.0:0.0893	.	591;652;652;652;612	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	T	612;652;591	ENSP00000269080:R612T;ENSP00000402814:R652T	ENSP00000269080:R612T	R	-	2	0	ABCA8	64425875	0.997000	0.39634	0.990000	0.47175	0.457000	0.32468	5.522000	0.67092	1.139000	0.42245	0.643000	0.83706	AGA		0.458	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1		NM_007168		16	71	0	0	0	0.004007	0	16	71		
ABCA10	10349	broad.mit.edu	37	17	67187420	67187420	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:67187420G>C	ENST00000269081.4	-	18	2817	c.1908C>G	c.(1906-1908)atC>atG	p.I636M	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	636					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I636M(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TAAGGGATGTGATTTTTTCTG	0.338																																						uc010dfa.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1906-1908)ATC>ATG		ATP-binding cassette, sub-family A, member 10							147.0	136.0	140.0					17																	67187420		2202	4300	6502	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67187420G>C	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1908C>G	17.37:g.67187420G>C	ENSP00000269081:p.Ile636Met					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.I237M	p.I636M	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			18	2787	-	Breast(10;6.95e-12)		636					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.1908C>G	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	g	10.07	1.250646	0.22880	.	.	ENSG00000154263	ENST00000269081	D	0.85484	-1.99	2.98	-2.41	0.06562	.	.	.	.	.	D	0.86669	0.5988	M	0.88450	2.955	0.09310	N	1	P;P	0.47677	0.886;0.899	P;B	0.50537	0.643;0.441	T	0.77112	-0.2708	9	0.87932	D	0	.	0.489	0.00561	0.2078:0.218:0.178:0.3962	.	636;636	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	M	636	ENSP00000269081:I636M	ENSP00000269081:I636M	I	-	3	3	ABCA10	64699015	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-3.194000	0.00563	-0.197000	0.10350	-0.258000	0.10820	ATC		0.338	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4		NM_080282		23	68	0	0	0	0.014323	0	23	68		
OTOP2	92736	broad.mit.edu	37	17	72929594	72929594	+	Missense_Mutation	SNP	G	G	A	rs201869769		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:72929594G>A	ENST00000580223.1	+	6	1673	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H	OTOP2_ENST00000331427.4_Missense_Mutation_p.R548H|OTOP3_ENST00000328801.4_5'Flank			Q7RTS6	OTOP2_HUMAN	otopetrin 2	548						integral component of membrane (GO:0016021)		p.R548H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ATCTTCTACCGCATGCACGCT	0.607																																						uc010wrp.1		NaN																	1	Substitution - Missense(1)	p.R548C(1)	urinary_tract(1)	ovary(3)|large_intestine(1)	4						c.(1642-1644)CGC>CAC		otopetrin 2			HIS/ARG	2,4404	6.2+/-15.9	0,2,2201	121.0	91.0	101.0		1643	4.4	1.0	17		101	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OTOP2	NM_178160.2	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	548/563	72929594	3,13003	2203	4300	6503	SO:0001583	missense	92736					integral to membrane		g.chr17:72929594G>A	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1643G>A	17.37:g.72929594G>A	ENSP00000463837:p.Arg548His					OTOP3_uc010wrq.1_5'Flank|OTOP3_uc010wrr.1_5'Flank	p.R548H	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			8	1732	+	all_lung(278;0.172)|Lung NSC(278;0.207)		548						Missense_Mutation	SNP	ENST00000580223.1	37	c.1643G>A	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100517	0.94245	4.54E-4	1.16E-4	ENSG00000183034	ENST00000331427	T	0.54479	0.57	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.76428	0.3986	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81897	-0.0722	10	0.87932	D	0	-14.5647	17.2229	0.86962	0.0:0.0:1.0:0.0	.	548	Q7RTS6	OTOP2_HUMAN	H	548	ENSP00000332528:R548H	ENSP00000332528:R548H	R	+	2	0	OTOP2	70441189	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.563000	0.98148	2.452000	0.82932	0.561000	0.74099	CGC		0.607	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1		NM_178160		29	88	0	0	0	0.00632	0	29	88		
HID1	283987	broad.mit.edu	37	17	72948414	72948414	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:72948414C>T	ENST00000425042.2	-	17	2171	c.2094G>A	c.(2092-2094)atG>atA	p.M698I		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	698					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)		p.M698I(1)									GCAGCAGCCTCATGATGGTCT	0.677																																						uc002jmj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2092-2094)ATG>ATA		hypothetical protein LOC283987							32.0	36.0	34.0					17																	72948414		2203	4299	6502	SO:0001583	missense	283987					integral to membrane|plasma membrane	protein binding	g.chr17:72948414C>T		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.2094G>A	17.37:g.72948414C>T	ENSP00000413520:p.Met698Ile					C17orf28_uc002jmi.2_Missense_Mutation_p.M100I|C17orf28_uc010wrs.1_Missense_Mutation_p.M497I	p.M698I	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN			17	2243	-	all_lung(278;0.151)|Lung NSC(278;0.185)		698					Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.2094G>A	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914256	0.92178	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.71517	0.3349	M	0.69823	2.125	0.80722	D	1	P	0.46395	0.877	P	0.49953	0.627	T	0.72456	-0.4288	9	0.40728	T	0.16	-43.494	18.5216	0.90954	0.0:1.0:0.0:0.0	.	698	Q8IV36	CQ028_HUMAN	I	470;698;470	.	ENSP00000317795:M470I	M	-	3	0	C17orf28	70460009	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.773000	0.85462	2.379000	0.81126	0.655000	0.94253	ATG		0.677	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2		NM_030630		10	21	0	0	0	0.00499	0	10	21		
TK1	7083	broad.mit.edu	37	17	76171137	76171137	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:76171137C>T	ENST00000301634.7	-	6	745	c.507G>A	c.(505-507)gaG>gaA	p.E169E	TK1_ENST00000588734.1_Silent_p.E169E|TK1_ENST00000590862.1_Silent_p.E169E|TK1_ENST00000405273.1_Silent_p.E169E|TK1_ENST00000590430.1_3'UTR	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble	169					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)	p.E169E(2)		endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	CTACCTCCTTCTCTGTGCCGA	0.662																																						uc002juw.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(505-507)GAG>GAA		thymidine kinase 1							41.0	40.0	40.0					17																	76171137		2203	4300	6503	SO:0001819	synonymous_variant	7083				DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding	g.chr17:76171137C>T		CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674	ENST00000301634.7:c.507G>A	17.37:g.76171137C>T						TK1_uc002jux.2_Silent_p.E211E	p.E169E	NM_003258	NP_003249	P04183	KITH_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		6	717	-			169					B2RC58|Q969V0|Q9UMG9	Silent	SNP	ENST00000301634.7	37	c.507G>A	CCDS11754.1																																																																																				0.662	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319577.1		NM_003258		12	18	0	0	0	0.001855	0	12	18		
TK1	7083	broad.mit.edu	37	17	76171139	76171139	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:76171139C>T	ENST00000301634.7	-	6	743	c.505G>A	c.(505-507)Gag>Aag	p.E169K	TK1_ENST00000588734.1_Missense_Mutation_p.E169K|TK1_ENST00000590862.1_Missense_Mutation_p.E169K|TK1_ENST00000405273.1_Missense_Mutation_p.E169K|TK1_ENST00000590430.1_3'UTR	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble	169					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)	p.E169K(2)		endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	ACCTCCTTCTCTGTGCCGAGC	0.657																																						uc002juw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(505-507)GAG>AAG		thymidine kinase 1							42.0	40.0	41.0					17																	76171139		2203	4300	6503	SO:0001583	missense	7083				DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding	g.chr17:76171139C>T		CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674	ENST00000301634.7:c.505G>A	17.37:g.76171139C>T	ENSP00000301634:p.Glu169Lys					TK1_uc002jux.2_Missense_Mutation_p.E211K	p.E169K	NM_003258	NP_003249	P04183	KITH_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		6	715	-			169					B2RC58|Q969V0|Q9UMG9	Missense_Mutation	SNP	ENST00000301634.7	37	c.505G>A	CCDS11754.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634303	0.87660	.	.	ENSG00000167900	ENST00000301634;ENST00000405273	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	M	0.71871	2.18	0.80722	D	1	P;P	0.42871	0.792;0.624	B;B	0.44085	0.44;0.325	T	0.73288	-0.4030	9	0.62326	D	0.03	-4.0598	19.0057	0.92849	0.0:1.0:0.0:0.0	.	169;169	B5BU32;P04183	.;KITH_HUMAN	K	169	.	ENSP00000301634:E169K	E	-	1	0	TK1	73682734	1.000000	0.71417	0.948000	0.38648	0.823000	0.46562	7.680000	0.84062	2.487000	0.83934	0.655000	0.94253	GAG		0.657	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319577.1		NM_003258		12	18	0	0	0	0.001855	0	12	18		
RNF213	57674	broad.mit.edu	37	17	78353431	78353431	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:78353431G>A	ENST00000582970.1	+	55	13700	c.13557G>A	c.(13555-13557)ccG>ccA	p.P4519P	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.P2592P|RNF213_ENST00000508628.2_Silent_p.P4568P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4519					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P2592P(1)|p.P4568P(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGGCAGGCCGATGGAACAGA	0.502																																						uc002jyh.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(7774-7776)CCG>CCA		ring finger protein 213							118.0	109.0	112.0					17																	78353431		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78353431G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13557G>A	17.37:g.78353431G>A						uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.P974P	p.P2592P	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		30	7999	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.7776G>A	CCDS58606.1																																																																																				0.502	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		NM_020914		26	93	0	0	0	0.00623	0	26	93		
SLC38A10	124565	broad.mit.edu	37	17	79226054	79226054	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:79226054C>A	ENST00000374759.3	-	13	2269	c.1886G>T	c.(1885-1887)gGa>gTa	p.G629V	SLC38A10_ENST00000288439.5_Missense_Mutation_p.G629V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	629					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.G629V(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGCGGCGGTCCCCCCTTGGC	0.711																																						uc002jzz.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	pancreas(1)|skin(1)	2						c.(1885-1887)GGA>GTA		solute carrier family 38, member 10 isoform a							27.0	34.0	32.0					17																	79226054		2195	4284	6479	SO:0001583	missense	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79226054C>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1886G>T	17.37:g.79226054C>A	ENSP00000363891:p.Gly629Val					SLC38A10_uc002jzy.1_Missense_Mutation_p.G547V|SLC38A10_uc002kab.2_Missense_Mutation_p.G629V	p.G629V	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		13	2261	-	all_neural(118;0.0804)|Melanoma(429;0.242)		629					Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	c.1886G>T	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.971925	0.00457	.	.	ENSG00000157637	ENST00000374759;ENST00000540966;ENST00000288439	T;T;T	0.46063	3.25;0.88;3.04	2.39	1.25	0.21368	.	376.980000	0.00166	N	0.000000	T	0.13756	0.0333	N	0.00729	-1.24	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16364	-1.0405	10	0.13853	T	0.58	.	2.5344	0.04711	0.5256:0.2856:0.1889:0.0	.	629;629	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	V	629;7;629	ENSP00000363891:G629V;ENSP00000437601:G7V;ENSP00000288439:G629V	ENSP00000288439:G629V	G	-	2	0	SLC38A10	76840649	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.108000	0.10857	-0.319000	0.08652	-1.109000	0.02080	GGA		0.711	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1		NM_138570		20	64	1	0	7.45023e-12	0.010504	7.66498e-12	20	64		
RAB40B	10966	broad.mit.edu	37	17	80616472	80616472	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:80616472C>G	ENST00000571995.1	-	5	591	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	RAB40B_ENST00000571880.1_5'Flank|RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Intron	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	154					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.E154Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GGGCTGACCTCAAAGAAGGTC	0.652																																						uc002kft.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(460-462)GAG>CAG		RAB40B, member RAS oncogene family							59.0	58.0	58.0					17																	80616472		2203	4300	6503	SO:0001583	missense	10966				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr17:80616472C>G	U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"""RAB, member RAS oncogene"""	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.460G>C	17.37:g.80616472C>G	ENSP00000461785:p.Glu154Gln					RAB40B_uc002kfs.2_RNA	p.E154Q	NM_006822	NP_006813	Q12829	RB40B_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		5	586	-	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	154					Q8WVG3	Missense_Mutation	SNP	ENST00000571995.1	37	c.460G>C	CCDS11816.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957361	0.92726	.	.	ENSG00000141542	ENST00000269347;ENST00000538809	.	.	.	4.08	4.08	0.47627	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000003	D	0.85531	0.5718	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89902	0.4045	9	0.87932	D	0	.	16.747	0.85475	0.0:1.0:0.0:0.0	.	154	Q12829	RB40B_HUMAN	Q	154;188	.	ENSP00000269347:E154Q	E	-	1	0	RAB40B	78209761	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.573000	0.82421	2.200000	0.70718	0.591000	0.81541	GAG		0.652	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1				34	82	0	0	0	0.003271	0	34	82		
METTL4	64863	broad.mit.edu	37	18	2547371	2547371	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:2547371C>G	ENST00000574538.1	-	6	1832	c.1057G>C	c.(1057-1059)Gag>Cag	p.E353Q	METTL4_ENST00000319888.6_Missense_Mutation_p.E353Q	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	353					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.E353Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CAGTGCCACTCAGCAACTACC	0.388																																						uc002klh.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(1)|skin(1)	2						c.(1057-1059)GAG>CAG		methyltransferase like 4							104.0	101.0	102.0					18																	2547371		2203	4300	6503	SO:0001583	missense	64863				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	g.chr18:2547371C>G		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.1057G>C	18.37:g.2547371C>G	ENSP00000458290:p.Glu353Gln					METTL4_uc010dkj.2_Missense_Mutation_p.E150Q	p.E353Q	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN			6	1837	-			353					B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	37	c.1057G>C	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371791	0.24857	.	.	ENSG00000101574	ENST00000319888	T	0.45668	0.89	5.63	4.76	0.60689	.	0.054650	0.64402	D	0.000001	T	0.63212	0.2492	M	0.81239	2.535	0.46609	D	0.999128	P;D	0.59357	0.883;0.985	P;D	0.63113	0.713;0.911	T	0.65759	-0.6090	10	0.40728	T	0.16	-14.1097	14.5368	0.67966	0.0:0.9297:0.0:0.0703	.	353;353	A8K1T6;Q8N3J2	.;METL4_HUMAN	Q	353	ENSP00000320349:E353Q	ENSP00000320349:E353Q	E	-	1	0	METTL4	2537371	0.996000	0.38824	0.957000	0.39632	0.788000	0.44548	3.439000	0.52878	1.387000	0.46486	0.650000	0.86243	GAG		0.388	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3		NM_022840		34	93	0	0	0	0.013726	0	34	93		
EMILIN2	84034	broad.mit.edu	37	18	2892354	2892354	+	Silent	SNP	G	G	A	rs200645018		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:2892354G>A	ENST00000254528.3	+	4	2388	c.2229G>A	c.(2227-2229)caG>caA	p.Q743Q		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	743					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.Q743Q(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GTGTCAGGCAGATGAACGGAA	0.493																																						uc002kln.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(2227-2229)CAG>CAA		elastin microfibril interfacer 2 precursor							63.0	59.0	61.0					18																	2892354		2203	4300	6503	SO:0001819	synonymous_variant	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892354G>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2229G>A	18.37:g.2892354G>A							p.Q743Q	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2388	+			743					B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	c.2229G>A	CCDS11828.1																																																																																				0.493	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2		NM_032048		20	61	0	0	0	0.008871	0	20	61		
DLGAP1	9229	broad.mit.edu	37	18	3508616	3508616	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:3508616G>C	ENST00000315677.3	-	11	3118	c.2523C>G	c.(2521-2523)ctC>ctG	p.L841L	DLGAP1_ENST00000400155.1_Silent_p.L547L|DLGAP1_ENST00000581527.1_Silent_p.L841L|DLGAP1_ENST00000400149.3_Silent_p.L531L|DLGAP1_ENST00000584874.1_Silent_p.L841L|DLGAP1_ENST00000534970.1_Silent_p.L525L|DLGAP1_ENST00000539435.1_Silent_p.L549L|DLGAP1_ENST00000400150.3_Silent_p.L557L|DLGAP1_ENST00000400147.2_Silent_p.L539L|DLGAP1_ENST00000581699.1_Silent_p.L547L|DLGAP1_ENST00000400145.2_Silent_p.L539L|DLGAP1_ENST00000515196.2_Silent_p.L841L	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	841					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.L549L(1)|p.L841L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TCTGGGCCATGAGAAGTTGGG	0.433																																						uc002kmf.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(2521-2523)CTC>CTG		discs large homolog-associated protein 1 isoform							73.0	66.0	68.0					18																	3508616		2203	4300	6503	SO:0001819	synonymous_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3508616G>C	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2523C>G	18.37:g.3508616G>C						DLGAP1_uc010wyz.1_Silent_p.L841L|DLGAP1_uc002kme.1_Silent_p.L539L|DLGAP1_uc010dkn.2_Silent_p.L549L|DLGAP1_uc010wyw.1_Silent_p.L547L|DLGAP1_uc010wyx.1_Silent_p.L563L|DLGAP1_uc010wyy.1_Silent_p.L525L|DLGAP1_uc002kmg.2_Silent_p.L539L	p.L841L	NM_004746	NP_004737	O14490	DLGP1_HUMAN			8	2590	-		Colorectal(8;0.0257)	841					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	c.2523C>G	CCDS11836.1																																																																																				0.433	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4				15	60	0	0	0	0.006122	0	15	60		
LAMA1	284217	broad.mit.edu	37	18	7023260	7023260	+	Silent	SNP	C	C	T	rs200170562	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:7023260C>T	ENST00000389658.3	-	19	2697	c.2604G>A	c.(2602-2604)ggG>ggA	p.G868G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	868	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.G868G(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCAGGCACTCCCCGGTGACTG	0.602													C|||	2	0.000399361	0.0	0.0	5008	,	,		17532	0.002		0.0	False		,,,				2504	0.0					uc002knm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(2602-2604)GGG>GGA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						95.0	75.0	82.0					18																	7023260		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7023260C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2604G>A	18.37:g.7023260C>T						LAMA1_uc010wzj.1_Silent_p.G344G	p.G868G	NM_005559	NP_005550	P25391	LAMA1_HUMAN			19	2698	-		Colorectal(10;0.172)	868			Laminin EGF-like 8.			Silent	SNP	ENST00000389658.3	37	c.2604G>A	CCDS32787.1																																																																																				0.602	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559		13	47	0	0	0	0.013537	0	13	47		
ANKRD12	23253	broad.mit.edu	37	18	9255144	9255144	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:9255144G>A	ENST00000262126.4	+	9	2119	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	ANKRD12_ENST00000383440.2_Missense_Mutation_p.E604K|ANKRD12_ENST00000400020.3_Missense_Mutation_p.E604K	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	627						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E627K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AATAAAGGATGAAGATCATAG	0.284																																						uc002knv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1879-1881)GAA>AAA		ankyrin repeat domain 12 isoform 1							37.0	41.0	40.0					18																	9255144		2201	4288	6489	SO:0001583	missense	23253					nucleus		g.chr18:9255144G>A	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1879G>A	18.37:g.9255144G>A	ENSP00000262126:p.Glu627Lys					ANKRD12_uc002knw.2_Missense_Mutation_p.E604K|ANKRD12_uc002knx.2_Missense_Mutation_p.E604K|ANKRD12_uc010dkx.1_Missense_Mutation_p.E334K	p.E627K	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	2136	+			627					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.1879G>A	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231587	0.39399	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	D;D	0.92348	-3.02;-3.02	5.53	5.53	0.82687	.	0.183346	0.49305	D	0.000157	D	0.91740	0.7388	M	0.65975	2.015	0.42913	D	0.994263	P;P;P	0.48503	0.911;0.911;0.856	B;B;B	0.41374	0.355;0.355;0.193	D	0.92867	0.6311	10	0.66056	D	0.02	-17.09	19.4706	0.94962	0.0:0.0:1.0:0.0	.	254;604;627	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	K	604;627;334	ENSP00000372932:E604K;ENSP00000262126:E627K	ENSP00000262126:E627K	E	+	1	0	ANKRD12	9245144	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.778000	0.75043	2.611000	0.88343	0.460000	0.39030	GAA		0.284	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2		NM_015208		30	88	0	0	0	0.00632	0	30	88		
ROCK1	6093	broad.mit.edu	37	18	18549123	18549123	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:18549123C>G	ENST00000399799.2	-	24	3807	c.2867G>C	c.(2866-2868)aGa>aCa	p.R956T		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	956	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R956T(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ATTCTCTCTTCTTAATATTTC	0.323																																						uc002kte.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|breast(2)|central_nervous_system(1)	5						c.(2866-2868)AGA>ACA		Rho-associated, coiled-coil containing protein							177.0	166.0	170.0					18																	18549123		2203	4299	6502	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18549123C>G		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2867G>C	18.37:g.18549123C>G	ENSP00000382697:p.Arg956Thr						p.R956T	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			24	3808	-	Melanoma(1;0.165)		956			Glu-rich.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.2867G>C	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560383	0.27827	.	.	ENSG00000067900	ENST00000399799	T	0.13420	2.59	5.25	3.46	0.39613	Rho Binding (2);	0.115026	0.64402	D	0.000003	T	0.06234	0.0161	N	0.08118	0	0.28822	N	0.897643	B	0.02656	0.0	B	0.06405	0.002	T	0.34229	-0.9837	10	0.15499	T	0.54	.	9.4234	0.38565	0.0:0.4726:0.4456:0.0818	.	956	Q13464	ROCK1_HUMAN	T	956	ENSP00000382697:R956T	ENSP00000382697:R956T	R	-	2	0	ROCK1	16803121	1.000000	0.71417	0.845000	0.33349	0.905000	0.53344	3.959000	0.56744	0.781000	0.33589	0.655000	0.94253	AGA		0.323	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2		NM_005406		19	49	0	0	0	0.008871	0	19	49		
MEP1B	4225	broad.mit.edu	37	18	29795197	29795197	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:29795197G>A	ENST00000269202.6	+	12	1779	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N	MEP1B_ENST00000581447.1_Missense_Mutation_p.D578N	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	578	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D578N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAAAGGAGATGATGTTTATAT	0.348																																						uc002kxj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1732-1734)GAT>AAT		meprin A beta precursor							75.0	72.0	73.0					18																	29795197		1825	4080	5905	SO:0001583	missense	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29795197G>A	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1732G>A	18.37:g.29795197G>A	ENSP00000269202:p.Asp578Asn						p.D578N	NM_005925	NP_005916	Q16820	MEP1B_HUMAN			12	1779	+			578			Extracellular (Potential).|MATH.		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	c.1732G>A	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119431	0.37436	.	.	ENSG00000141434	ENST00000269202	T	0.44482	0.92	5.97	4.92	0.64577	TRAF-type (1);TRAF-like (1);MATH (2);	0.177223	0.64402	D	0.000016	T	0.36331	0.0963	L	0.41415	1.275	0.42414	D	0.992614	B	0.22480	0.07	B	0.27796	0.083	T	0.11131	-1.0600	10	0.34782	T	0.22	-14.428	13.7751	0.63048	0.125:0.0:0.875:0.0	.	578	Q16820	MEP1B_HUMAN	N	578	ENSP00000269202:D578N	ENSP00000269202:D578N	D	+	1	0	MEP1B	28049195	1.000000	0.71417	0.939000	0.37840	0.465000	0.32709	5.302000	0.65733	2.831000	0.97527	0.655000	0.94253	GAT		0.348	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1		NM_005925		3	40	0	0	0	0.004672	0	3	40		
NOL4	8715	broad.mit.edu	37	18	31709969	31709969	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:31709969C>G	ENST00000261592.5	-	2	577	c.280G>C	c.(280-282)Gat>Cat	p.D94H	NOL4_ENST00000589544.1_Missense_Mutation_p.D94H|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000538587.1_Missense_Mutation_p.D20H	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	94						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.D94H(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGCTTCTCATCTACCCCTACG	0.353																																						uc010dmi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(280-282)GAT>CAT		nucleolar protein 4							76.0	69.0	71.0					18																	31709969		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31709969C>G	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.280G>C	18.37:g.31709969C>G	ENSP00000261592:p.Asp94His					NOL4_uc002kxr.3_5'UTR|NOL4_uc010xbt.1_Missense_Mutation_p.D20H|NOL4_uc010dmh.2_Missense_Mutation_p.D20H|NOL4_uc010xbu.1_Missense_Mutation_p.D94H|NOL4_uc002kxt.3_Missense_Mutation_p.D94H|NOL4_uc010xbw.1_5'UTR	p.D94H	NM_003787	NP_003778	O94818	NOL4_HUMAN			2	509	-			94					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.280G>C	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	19.76	3.888111	0.72524	.	.	ENSG00000101746	ENST00000261592;ENST00000538587	D	0.84070	-1.8	5.72	5.72	0.89469	.	.	.	.	.	T	0.82144	0.4973	L	0.34521	1.04	0.80722	D	1	P;P;P	0.47677	0.729;0.828;0.899	P;P;P	0.48141	0.471;0.471;0.568	D	0.83518	0.0084	9	0.59425	D	0.04	-9.4877	18.866	0.92292	0.0:1.0:0.0:0.0	.	20;94;94	B4DSQ0;O94818;O94818-2	.;NOL4_HUMAN;.	H	94;20	ENSP00000261592:D94H	ENSP00000261592:D94H	D	-	1	0	NOL4	29963967	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.629000	0.67798	2.710000	0.92621	0.585000	0.79938	GAT		0.353	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1		NM_003787		18	56	0	0	0	0.007413	0	18	56		
ZSCAN30	100101467	broad.mit.edu	37	18	32833853	32833853	+	Missense_Mutation	SNP	C	C	T	rs553339887		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:32833853C>T	ENST00000420878.3	-	5	1501	c.1046G>A	c.(1045-1047)aGa>aAa	p.R349K	ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000355632.4_Intron|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.R349K|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000589420.1_Intron	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	349					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.R349K(1)		large_intestine(5)|lung(3)|urinary_tract(1)	9						ACTATGAATTCTCTGATGTCT	0.438																																						uc002kym.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1045-1047)AGA>AAA		zinc finger protein 397 opposite strand							98.0	90.0	92.0					18																	32833853		1568	3582	5150	SO:0001583	missense	100101467				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32833853C>T	AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"""-"", ""Zinc fingers, C2H2-type"""	33517	protein-coding gene	gene with protein product			"""zinc finger protein 397 opposite strand"", ""ZNF397 opposite strand"""	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.1046G>A	18.37:g.32833853C>T	ENSP00000392371:p.Arg349Lys					ZNF397_uc010dmq.2_Intron|ZNF397_uc010dmr.2_Intron|ZNF397_uc002kyj.2_Intron|ZNF397OS_uc002kyl.2_5'Flank|ZNF397OS_uc010xce.1_Missense_Mutation_p.R349K	p.R349K	NM_001112734	NP_001106205	Q86W11	ZSC30_HUMAN			4	1274	-			349			C2H2-type 2.		B4E0N0|Q6ZNB3|Q96PN3	Missense_Mutation	SNP	ENST00000420878.3	37	c.1046G>A	CCDS42427.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180289	0.78677	.	.	ENSG00000186814	ENST00000420878;ENST00000333206;ENST00000360932	T;T	0.18338	2.22;2.22	4.5	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39544	N	0.001322	T	0.15305	0.0369	N	0.17631	0.505	0.80722	D	1	P	0.34462	0.454	B	0.43052	0.406	T	0.09487	-1.0672	10	0.54805	T	0.06	.	10.306	0.43680	0.0:0.9025:0.0:0.0975	.	349	Q86W11	ZSC30_HUMAN	K	349;349;284	ENSP00000392371:R349K;ENSP00000329738:R349K	ENSP00000329738:R349K	R	-	2	0	ZSCAN30	31087851	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.511000	0.22739	1.228000	0.43614	0.643000	0.83706	AGA		0.438	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442510.1		NM_001112734		33	138	0	0	0	0.013726	0	33	138		
ATP5A1	498	broad.mit.edu	37	18	43669842	43669842	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:43669842C>T	ENST00000398752.6	-	4	551	c.430G>A	c.(430-432)Gag>Aag	p.E144K	ATP5A1_ENST00000282050.2_Missense_Mutation_p.E144K|ATP5A1_ENST00000590665.1_Intron|ATP5A1_ENST00000593152.2_Missense_Mutation_p.E94K	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	144					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.E144K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						AACAGCTCCTCACCAACTGGA	0.418																																						uc002lbr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(430-432)GAG>AAG		ATP synthase, H+ transporting, mitochondrial F1							130.0	101.0	111.0					18																	43669842		2203	4300	6503	SO:0001583	missense	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43669842C>T	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.430G>A	18.37:g.43669842C>T	ENSP00000381736:p.Glu144Lys					ATP5A1_uc010dnl.1_Missense_Mutation_p.E94K|ATP5A1_uc002lbs.1_Missense_Mutation_p.E94K|ATP5A1_uc002lbt.1_Missense_Mutation_p.E144K|ATP5A1_uc010xct.1_Missense_Mutation_p.E94K|ATP5A1_uc010dnm.1_RNA	p.E144K	NM_004046	NP_004037	P25705	ATPA_HUMAN			4	520	-			144					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	c.430G>A	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429009	0.43122	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	D;D	0.81499	-1.5;-1.5	5.16	5.16	0.70880	.	0.193571	0.53938	D	0.000055	T	0.64438	0.2598	N	0.11927	0.2	0.58432	D	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.62234	-0.6897	10	0.02654	T	1	-13.615	18.6794	0.91541	0.0:1.0:0.0:0.0	.	144	P25705	ATPA_HUMAN	K	144;144;94	ENSP00000282050:E144K;ENSP00000381736:E144K	ENSP00000282050:E144K	E	-	1	0	ATP5A1	41923840	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.920000	0.70017	2.411000	0.81874	0.563000	0.77884	GAG		0.418	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1		NM_004046		19	78	0	0	0	0.008871	0	19	78		
SMAD2	4087	broad.mit.edu	37	18	45368266	45368266	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:45368266G>C	ENST00000402690.2	-	11	1730	c.1336C>G	c.(1336-1338)Cta>Gta	p.L446V	SMAD2_ENST00000262160.6_Missense_Mutation_p.L446V|SMAD2_ENST00000356825.4_Missense_Mutation_p.L416V|SMAD2_ENST00000586040.1_Missense_Mutation_p.L416V	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	446	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.L446V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						AACCACTGTAGAGGTCCATTC	0.408																																						uc002lcy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(3)|lung(1)|central_nervous_system(1)	5						c.(1336-1338)CTA>GTA		Sma- and Mad-related protein 2 isoform 1							165.0	142.0	150.0					18																	45368266		2203	4300	6503	SO:0001583	missense	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45368266G>C	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1336C>G	18.37:g.45368266G>C	ENSP00000384449:p.Leu446Val					SMAD2_uc002lcz.2_Missense_Mutation_p.L446V|SMAD2_uc010xdc.1_Missense_Mutation_p.L416V	p.L446V	NM_005901	NP_005892	Q15796	SMAD2_HUMAN			11	1584	-			446			MH2.			Missense_Mutation	SNP	ENST00000402690.2	37	c.1336C>G	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006828	0.74932	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.98105	-4.72;-4.72;-4.72	5.65	5.65	0.86999	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (1);	0.000000	0.85682	D	0.000000	D	0.98654	0.9549	M	0.84585	2.705	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.984;0.997	D	0.98931	1.0787	10	0.87932	D	0	.	13.3239	0.60449	0.0722:0.0:0.9278:0.0	.	416;446	Q15796-2;Q15796	.;SMAD2_HUMAN	V	446;416;446	ENSP00000262160:L446V;ENSP00000349282:L416V;ENSP00000384449:L446V	ENSP00000262160:L446V	L	-	1	2	SMAD2	43622264	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	5.765000	0.68834	2.824000	0.97209	0.655000	0.94253	CTA		0.408	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1		NM_005901		20	72	0	0	0	0.008871	0	20	72		
SMAD4	4089	broad.mit.edu	37	18	48591846	48591846	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:48591846G>A	ENST00000342988.3	+	9	1547	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	SMAD4_ENST00000588745.1_Missense_Mutation_p.E241K|SMAD4_ENST00000398417.2_Missense_Mutation_p.E337K	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	337	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.E337K(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGGTAGGAGAGACATTTAA	0.418																																						uc010xdp.1		NaN																	39	Whole gene deletion(36)|Unknown(2)|Substitution - Missense(1)	p.0?(35)|p.?(2)|p.E337E(1)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|oesophagus(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369						c.(1009-1011)GAG>AAG		mothers against decapentaplegic homolog 4							270.0	232.0	245.0					18																	48591846		2203	4300	6503	SO:0001583	missense	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591846G>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1009G>A	18.37:g.48591846G>A	ENSP00000341551:p.Glu337Lys					SMAD4_uc002lfb.3_Missense_Mutation_p.E182K	p.E337K	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1547	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	337			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1009G>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	36	5.871592	0.97049	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.97906	-4.6;-4.6	5.99	5.99	0.97316	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98912	0.9631	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99647	1.0990	10	0.87932	D	0	.	19.2492	0.93917	0.0:0.0:1.0:0.0	.	337	Q13485	SMAD4_HUMAN	K	337	ENSP00000341551:E337K;ENSP00000381452:E337K	ENSP00000341551:E337K	E	+	1	0	SMAD4	46845844	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.828000	0.86729	2.840000	0.97914	0.655000	0.94253	GAG		0.418	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3		NM_005359		45	121	0	0	0	0.01441	0	45	121		
PRTN3	5657	broad.mit.edu	37	19	847830	847830	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:847830G>A	ENST00000234347.5	+	5	678	c.632G>A	c.(631-633)gGc>gAc	p.G211D	PRTN3_ENST00000544537.2_Missense_Mutation_p.G170D	NM_002777.3	NP_002768.3	P24158	PRTN3_HUMAN	proteinase 3	211	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				collagen catabolic process (GO:0030574)|mature dendritic cell differentiation (GO:0097029)|negative regulation of phagocytosis (GO:0050765)|positive regulation of cell proliferation (GO:0008284)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G211D(1)		lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTGTGATGGCATCATCCAA	0.612																																						uc002lqa.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(631-633)GGC>GAC		myeloblastin							79.0	61.0	67.0					19																	847830		2203	4300	6503	SO:0001583	missense	5657				collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:847830G>A		CCDS32860.1	19p13.3	2008-07-31	2008-07-31			ENSG00000196415			9495	protein-coding gene	gene with protein product	"""myeloblastin"", ""serine proteinase, neutrophil"", ""Wegener granulomatosis autoantigen"""	177020				2258701	Standard	NM_002777		Approved	PR-3, ACPA, C-ANCA, AGP7, MBT, P29	uc002lqa.1	P24158		ENST00000234347.5:c.632G>A	19.37:g.847830G>A	ENSP00000234347:p.Gly211Asp						p.G211D	NM_002777	NP_002768	P24158	PRTN3_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)	5	656	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	211			Peptidase S1.		P15637|P18078|Q4VB08|Q4VB09|Q6LBM7|Q6LBN2|Q9UD25|Q9UQD8	Missense_Mutation	SNP	ENST00000234347.5	37	c.632G>A	CCDS32860.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397870	0.42512	.	.	ENSG00000196415	ENST00000234347;ENST00000544537	D	0.87809	-2.3	2.36	2.36	0.29203	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.89276	0.6669	L	0.43646	1.37	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78142	-0.2319	9	0.62326	D	0.03	.	8.2265	0.31572	0.0:0.0:1.0:0.0	.	211	P24158	PRTN3_HUMAN	D	211;170	ENSP00000234347:G211D	ENSP00000234347:G211D	G	+	2	0	PRTN3	798830	0.800000	0.28916	0.004000	0.12327	0.011000	0.07611	2.120000	0.41968	1.316000	0.45131	0.313000	0.20887	GGC		0.612	PRTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457888.2		NM_002777		3	30	0	0	0	0.009096	0	3	30		
SBNO2	22904	broad.mit.edu	37	19	1111584	1111584	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:1111584G>A	ENST00000361757.3	-	24	2967	c.2730C>T	c.(2728-2730)ctC>ctT	p.L910L	SBNO2_ENST00000587024.1_Silent_p.L900L|SBNO2_ENST00000438103.2_Silent_p.L853L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	910					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)			p.L910L(1)|p.L917L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|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)		GGATGGTGGTGAGGACACAGT	0.662																																						uc002lrk.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(2728-2730)CTC>CTT		strawberry notch homolog 2 isoform 1							38.0	43.0	41.0					19																	1111584		1947	4139	6086	SO:0001819	synonymous_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1111584G>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2730C>T	19.37:g.1111584G>A						SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_Silent_p.L853L|SBNO2_uc010dse.2_Silent_p.L893L|SBNO2_uc010xgj.1_Intron	p.L910L	NM_014963	NP_055778	Q9Y2G9	SBNO2_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)	24	2968	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	910					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	c.2730C>T	CCDS45894.1																																																																																				0.662	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2		NM_014963		3	9	0	0	0	0.004672	0	3	9		
AP3D1	8943	broad.mit.edu	37	19	2116613	2116613	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:2116613C>T	ENST00000345016.5	-	17	2223	c.1992G>A	c.(1990-1992)gaG>gaA	p.E664E	AP3D1_ENST00000350812.6_Silent_p.E495E|AP3D1_ENST00000356926.4_Silent_p.E573E|AP3D1_ENST00000355272.6_Silent_p.E664E	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	664					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.E664E(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)		CCCGAGCCAGCTCTTCCTCGT	0.692																																						uc002luz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1990-1992)GAG>GAA		adaptor-related protein complex 3, delta 1							15.0	17.0	16.0					19																	2116613		2060	4189	6249	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.chr19:2116613C>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.1992G>A	19.37:g.2116613C>T						AP3D1_uc002luy.2_Silent_p.E573E|AP3D1_uc002lva.2_Silent_p.E664E	p.E664E	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)	17	2215	-		Hepatocellular(1079;0.137)	664			Potential.		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.1992G>A	CCDS42459.1																																																																																				0.692	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1				4	9	0	0	0	0.001168	0	4	9		
MCOLN1	57192	broad.mit.edu	37	19	7591755	7591755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:7591755C>T	ENST00000264079.6	+	4	639	c.514C>T	c.(514-516)Cga>Tga	p.R172*		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	172				ALCQRYYHRGHVDPANDTFDIDPMVVTD -> LSASGTTTE ATWTRPTTHLTLIRWWLLVN (in Ref. 3; AAG42242). {ECO:0000305}.	calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)	p.R172*(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTACTACCACCGAGGCCACGT	0.607																																						uc002mgo.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	breast(1)	1	GRCh37	CM003597	MCOLN1	M		c.(514-516)CGA>TGA		mucolipin 1							138.0	103.0	115.0					19																	7591755		2203	4300	6503	SO:0001587	stop_gained	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7591755C>T	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.514C>T	19.37:g.7591755C>T	ENSP00000264079:p.Arg172*					MCOLN1_uc002mgp.2_Silent_p.T58T	p.R172*	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN			4	639	+			172	ALCQRYYHRGHVDPANDTFDIDPMVVTD -> LSASGTTTE ATWTRPTTHLTLIRWWLLVN (in Ref. 3; AAG42242).				D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Nonsense_Mutation	SNP	ENST00000264079.6	37	c.514C>T	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837606	0.91117	.	.	ENSG00000090674	ENST00000264079	.	.	.	5.24	4.21	0.49690	.	0.552403	0.19847	N	0.104733	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	6.8867	0.24206	0.1724:0.7391:0.0:0.0885	.	.	.	.	X	172	.	ENSP00000264079:R172X	R	+	1	2	MCOLN1	7497755	0.038000	0.19896	0.665000	0.29768	0.200000	0.23975	2.882000	0.48546	1.225000	0.43566	0.655000	0.94253	CGA		0.607	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2		NM_020533		24	99	0	0	0	0.005443	0	24	99		
TIMM44	10469	broad.mit.edu	37	19	8000015	8000015	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:8000015C>G	ENST00000270538.3	-	4	596	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	110					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)	p.E110Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CGCACGGTTTCTGACTCGATG	0.552																																						uc002miz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(328-330)GAA>CAA		translocase of inner mitochondrial membrane 44							86.0	65.0	72.0					19																	8000015		2203	4300	6503	SO:0001583	missense	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:8000015C>G	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.328G>C	19.37:g.8000015C>G	ENSP00000270538:p.Glu110Gln					TIMM44_uc002mja.2_5'UTR|TIMM44_uc010dvx.1_RNA	p.E110Q	NM_006351	NP_006342	O43615	TIM44_HUMAN			4	330	-			110					A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	c.328G>C	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420371	0.62622	.	.	ENSG00000104980	ENST00000270538	T	0.78364	-1.17	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.84266	0.5434	M	0.85462	2.755	0.80722	D	1	P	0.46784	0.884	P	0.48952	0.596	D	0.83386	0.0015	10	0.29301	T	0.29	-28.9477	17.0916	0.86623	0.0:1.0:0.0:0.0	.	110	O43615	TIM44_HUMAN	Q	110	ENSP00000270538:E110Q	ENSP00000270538:E110Q	E	-	1	0	TIMM44	7906015	1.000000	0.71417	0.693000	0.30195	0.111000	0.19643	7.010000	0.76353	2.708000	0.92522	0.655000	0.94253	GAA		0.552	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3				8	17	0	0	0	0.00308	0	8	17		
MARCH2	51257	broad.mit.edu	37	19	8503337	8503337	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:8503337G>A	ENST00000602117.1	+	5	1103	c.648G>A	c.(646-648)ctG>ctA	p.L216L	MARCH2_ENST00000381035.4_Silent_p.L146L|MARCH2_ENST00000393944.1_Silent_p.L216L|MARCH2_ENST00000215555.2_Silent_p.L216L|MARCH2_ENST00000601283.1_Intron			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	216					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L146L(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						AAGTTCGCCTGAAGATCCGGG	0.617																																						uc002mjv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(646-648)CTG>CTA		membrane-associated ring finger (C3HC4) 2							53.0	55.0	54.0					19																	8503337		2203	4300	6503	SO:0001819	synonymous_variant	51257				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr19:8503337G>A	AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28038	protein-coding gene	gene with protein product		613332	"""membrane-associated ring finger (C3HC4) 2"""			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.648G>A	19.37:g.8503337G>A						MARCH2_uc002mjw.2_Silent_p.L216L|MARCH2_uc002mjx.2_Silent_p.L146L	p.L216L	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN			6	1089	+			216					A6NP10|Q5H785|Q8N5A3|Q96B78	Silent	SNP	ENST00000602117.1	37	c.648G>A	CCDS12202.1																																																																																				0.617	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2		NM_016496		30	75	0	0	0	0.007291	0	30	75		
MUC16	94025	broad.mit.edu	37	19	8999056	8999056	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:8999056G>A	ENST00000397910.4	-	57	40991	c.40788C>T	c.(40786-40788)ttC>ttT	p.F13596F	MUC16_ENST00000380951.5_Silent_p.F237F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13598				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.F281F(1)|p.F13596F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCGCTGTGTGAAACCTGCAT	0.537																																						uc002mkp.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(40786-40788)TTC>TTT		mucin 16							75.0	72.0	73.0					19																	8999056		1951	4129	6080	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8999056G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40788C>T	19.37:g.8999056G>A						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.F413F|MUC16_uc010xki.1_RNA	p.F13596F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			57	40992	-			13598	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.40788C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	1.478	-0.558077	0.03967	.	.	ENSG00000181143	ENST00000542240	.	.	.	1.04	-0.0992	0.13625	.	.	.	.	.	T	0.28632	0.0709	.	.	.	.	.	.	.	.	.	.	.	.	T	0.32693	-0.9897	3	.	.	.	.	3.3812	0.07255	0.2995:0.0:0.7005:0.0	.	.	.	.	L	436	.	.	S	-	2	0	MUC16	8860056	0.875000	0.30112	0.007000	0.13788	0.015000	0.08874	1.080000	0.30779	0.010000	0.14839	0.455000	0.32223	TCA		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		6	20	0	0	0	0.001168	0	6	20		
ZNF562	54811	broad.mit.edu	37	19	9767306	9767306	+	Missense_Mutation	SNP	C	C	T	rs140829241		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:9767306C>T	ENST00000448622.1	-	5	427	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	ZNF562_ENST00000541032.1_Missense_Mutation_p.E52K|ZNF562_ENST00000453372.2_Missense_Mutation_p.E89K|ZNF562_ENST00000590155.1_Missense_Mutation_p.E89K|ZNF562_ENST00000537617.1_5'UTR|ZNF562_ENST00000587392.1_Intron|ZNF562_ENST00000293648.4_Missense_Mutation_p.E17K|ZNF562_ENST00000453792.2_Missense_Mutation_p.E20K	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	89	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.E17K(1)|p.E89K(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						ATTTCCCATTCTGAAGTTAAG	0.328																																						uc010xks.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(265-267)GAA>AAA		zinc finger protein 562 isoform a							123.0	120.0	121.0					19																	9767306		2203	4300	6503	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9767306C>T	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.265G>A	19.37:g.9767306C>T	ENSP00000411784:p.Glu89Lys					ZNF562_uc002mly.2_Missense_Mutation_p.E89K|ZNF562_uc002mlx.2_Missense_Mutation_p.E17K|ZNF562_uc010xkt.1_Missense_Mutation_p.E52K|ZNF562_uc010xku.1_Missense_Mutation_p.E20K|ZNF562_uc010xkv.1_Missense_Mutation_p.E89K|ZNF562_uc010xkw.1_5'UTR	p.E89K	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN			5	428	-			89			KRAB.		Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	c.265G>A	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	C	4.987	0.183231	0.09495	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792	T;T;T;T;T	0.10860	3.1;3.1;2.92;3.1;2.83	1.73	0.672	0.17935	Krueppel-associated box (3);	.	.	.	.	T	0.03348	0.0097	N	0.03608	-0.345	0.09310	N	0.999994	B;P;P;B	0.39809	0.243;0.689;0.58;0.02	B;B;B;B	0.28916	0.054;0.091;0.096;0.013	T	0.35724	-0.9777	9	0.87932	D	0	.	4.0824	0.09932	0.0:0.7787:0.0:0.2213	.	89;52;89;17	B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;ZN562_HUMAN;.	K	89;89;17;52;20	ENSP00000410734:E89K;ENSP00000411784:E89K;ENSP00000293648:E17K;ENSP00000442614:E52K;ENSP00000440451:E20K	ENSP00000293648:E17K	E	-	1	0	ZNF562	9628306	0.007000	0.16637	0.002000	0.10522	0.007000	0.05969	0.614000	0.24314	0.298000	0.22638	-0.350000	0.07774	GAA		0.328	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1		NM_017656		44	120	0	0	0	0.010771	0	44	120		
PPAN	56342	broad.mit.edu	37	19	10221062	10221062	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:10221062G>A	ENST00000253107.7	+	9	991	c.885G>A	c.(883-885)gtG>gtA	p.V295V	SNORD105_ENST00000386910.1_RNA|PPAN_ENST00000393793.1_Silent_p.V242V|PPAN_ENST00000556468.1_Silent_p.V295V|SNORD105B_ENST00000458770.1_RNA|P2RY11_ENST00000321826.4_5'Flank|PPAN-P2RY11_ENST00000393796.4_Silent_p.V295V|PPAN-P2RY11_ENST00000428358.1_Silent_p.V295V	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	295					RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V295V(2)		endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			AGGGCAAAGTGATGTTCCACA	0.657																																						uc002mna.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)	2						c.(883-885)GTG>GTA		PPAN-P2RY11 protein							37.0	43.0	41.0					19																	10221062		2201	4296	6497	SO:0001819	synonymous_variant	692312				RNA splicing	nucleolus	protein binding	g.chr19:10221062G>A	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.885G>A	19.37:g.10221062G>A						PPAN-P2RY11_uc010xla.1_Silent_p.V295V|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Silent_p.V295V|PPAN_uc002mnb.1_Silent_p.V242V	p.V295V	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		9	885	+			295					C9J3F9|Q9BW97|Q9H170	Silent	SNP	ENST00000253107.7	37	c.885G>A	CCDS12225.1																																																																																				0.657	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1		NM_020230		14	31	0	0	0	0.003163	0	14	31		
ATG4D	84971	broad.mit.edu	37	19	10657634	10657634	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:10657634G>A	ENST00000309469.4	+	4	786	c.613G>A	c.(613-615)Gag>Aag	p.E205K	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	205					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)	p.E205K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGGTGCCCCTGAGCTGGAGCA	0.716																																						uc002mov.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(613-615)GAG>AAG		APG4 autophagy 4 homolog D							12.0	15.0	14.0					19																	10657634		2192	4283	6475	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10657634G>A	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.613G>A	19.37:g.10657634G>A	ENSP00000311318:p.Glu205Lys					ATG4D_uc010xlg.1_Missense_Mutation_p.E228K|ATG4D_uc010xlh.1_Missense_Mutation_p.E142K|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_Intron|ATG4D_uc010dxj.2_Intron	p.E205K	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		4	733	+			205					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.613G>A	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119702	0.56613	.	.	ENSG00000130734	ENST00000309469	T	0.42131	0.98	4.79	4.79	0.61399	.	1.679040	0.03077	N	0.158035	T	0.33990	0.0882	N	0.16743	0.435	0.80722	D	1	B;B;B	0.27013	0.005;0.166;0.02	B;B;B	0.26310	0.009;0.038;0.068	T	0.02766	-1.1113	10	0.37606	T	0.19	-20.6722	11.8952	0.52652	0.0:0.0:0.8252:0.1748	.	142;228;205	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	K	205	ENSP00000311318:E205K	ENSP00000311318:E205K	E	+	1	0	ATG4D	10518634	0.955000	0.32602	0.834000	0.33040	0.771000	0.43674	1.753000	0.38359	2.483000	0.83821	0.561000	0.74099	GAG		0.716	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1		NM_032885		9	15	0	0	0	0.004482	0	9	15		
ATG4D	84971	broad.mit.edu	37	19	10663639	10663639	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:10663639G>T	ENST00000309469.4	+	10	1494	c.1321G>T	c.(1321-1323)Gac>Tac	p.D441Y	MIR1238_ENST00000408483.1_RNA|RNU7-140P_ENST00000459546.1_RNA|ATG4D_ENST00000540862.1_Missense_Mutation_p.D108Y	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	441					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)	p.D441Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCACAGCCTGGACGACCTCTG	0.657																																						uc002mov.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1321-1323)GAC>TAC		APG4 autophagy 4 homolog D							78.0	69.0	72.0					19																	10663639		2203	4300	6503	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10663639G>T	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.1321G>T	19.37:g.10663639G>T	ENSP00000311318:p.Asp441Tyr					ATG4D_uc010xlh.1_Missense_Mutation_p.D378Y|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.D108Y	p.D441Y	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		10	1441	+			441					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1321G>T	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546281	0.86022	.	.	ENSG00000130734	ENST00000309469;ENST00000540862	.	.	.	5.19	5.19	0.71726	.	1.099960	0.06804	N	0.789196	T	0.57315	0.2045	L	0.36672	1.1	0.53688	D	0.999974	P;P	0.50819	0.939;0.939	P;P	0.52554	0.702;0.702	T	0.42666	-0.9438	9	0.46703	T	0.11	-21.5806	11.3769	0.49733	0.0855:0.0:0.9145:0.0	.	378;441	B4DGM8;Q86TL0	.;ATG4D_HUMAN	Y	441;108	.	ENSP00000311318:D441Y	D	+	1	0	ATG4D	10524639	1.000000	0.71417	0.996000	0.52242	0.864000	0.49448	6.368000	0.73104	2.586000	0.87340	0.655000	0.94253	GAC		0.657	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1		NM_032885		34	96	1	0	1.43246e-33	0.007835	1.49868e-33	34	96		
AP1M2	10053	broad.mit.edu	37	19	10692042	10692042	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:10692042C>T	ENST00000250244.6	-	6	655	c.573G>A	c.(571-573)ctG>ctA	p.L191L	AP1M2_ENST00000590923.1_Silent_p.L191L	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	191	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)		p.L191L(1)		endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CGATTTCGCTCAGAAGGACGC	0.592											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mpc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(571-573)CTG>CTA		adaptor-related protein complex 1, mu 2 subunit							53.0	55.0	54.0					19																	10692042		2087	4227	6314	SO:0001819	synonymous_variant	10053				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:10692042C>T	AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.573G>A	19.37:g.10692042C>T			OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	666	AP1M2_uc002mpd.2_Silent_p.L191L	p.L191L	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		6	657	-			191			MHD.		B2RDV5|Q9BSI8	Silent	SNP	ENST00000250244.6	37	c.573G>A	CCDS45964.1																																																																																				0.592	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1				14	30	0	0	0	0.001855	0	14	30		
FBXW9	84261	broad.mit.edu	37	19	12805444	12805444	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:12805444G>C	ENST00000380339.3	-	3	678	c.642C>G	c.(640-642)atC>atG	p.I214M	FBXW9_ENST00000587955.1_Missense_Mutation_p.I204M|FBXW9_ENST00000544494.1_De_novo_Start_OutOfFrame|FBXW9_ENST00000393261.3_Missense_Mutation_p.I214M			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	214					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)			p.I214M(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CTAAGGTCTTGATCAGAACCT	0.572																																						uc010dyx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(610-612)ATC>ATG		F-box and WD-40 domain protein 9							67.0	75.0	72.0					19																	12805444		2087	4208	6295	SO:0001583	missense	84261						protein binding	g.chr19:12805444G>C	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.642C>G	19.37:g.12805444G>C	ENSP00000369696:p.Ile214Met					FBXW9_uc010xmp.1_RNA|FBXW9_uc002mum.1_Missense_Mutation_p.I214M|FBXW9_uc002mun.1_Missense_Mutation_p.I51M	p.I204M	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN			3	612	-			214					B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	37	c.612C>G		.	.	.	.	.	.	.	.	.	.	G	5.598	0.295089	0.10622	.	.	ENSG00000132004	ENST00000393261;ENST00000380339	T;T	0.20738	2.05;2.05	4.29	2.03	0.26663	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.407296	0.23824	N	0.044211	T	0.20047	0.0482	L	0.42686	1.345	0.80722	D	1	B;B;B	0.16802	0.001;0.0;0.019	B;B;B	0.23018	0.005;0.001;0.043	T	0.07520	-1.0768	10	0.54805	T	0.06	-29.1284	13.8502	0.63492	0.0:0.6341:0.3659:0.0	.	204;214;214	Q5XUX1-2;Q5XUX1;Q5XUX1-3	.;FBXW9_HUMAN;.	M	214	ENSP00000376945:I214M;ENSP00000369696:I214M	ENSP00000369696:I214M	I	-	3	3	FBXW9	12666444	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	0.734000	0.26101	0.412000	0.25729	0.462000	0.41574	ATC		0.572	FBXW9-201	KNOWN	basic	protein_coding	protein_coding			NM_032301		5	52	0	0	0	0.001984	0	5	52		
CACNA1A	773	broad.mit.edu	37	19	13409682	13409682	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:13409682C>T	ENST00000360228.5	-	19	2764	c.2765G>A	c.(2764-2766)cGa>cAa	p.R922Q	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R923Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	923					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.R923Q(4)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCCTTGCCTCGCTCGGCCTC	0.776																																						uc010dze.2		NaN																	4	Substitution - Missense(4)	p.R923Q(1)	urinary_tract(3)|large_intestine(1)	large_intestine(2)	2						c.(2767-2769)CGA>CAA		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						7.0	8.0	8.0					19																	13409682		1743	3766	5509	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13409682C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2765G>A	19.37:g.13409682C>T	ENSP00000353362:p.Arg922Gln					CACNA1A_uc010dzc.2_Missense_Mutation_p.R448Q|CACNA1A_uc002mwy.3_Missense_Mutation_p.R922Q|CACNA1A_uc010xne.1_Missense_Mutation_p.R451Q	p.R923Q	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		19	3004	-			923			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.2768G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368659	0.24771	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95980	-3.87	4.01	2.97	0.34412	.	3.119690	0.01779	N	0.031630	D	0.95648	0.8585	L	0.29908	0.895	0.28284	N	0.923838	P;P;D	0.71674	0.913;0.942;0.998	B;B;D	0.66602	0.089;0.283;0.945	D	0.88912	0.3360	10	0.38643	T	0.18	.	8.1962	0.31398	0.0:0.8835:0.0:0.1165	.	923;926;922	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	Q	922;926;923;923	ENSP00000353362:R922Q	ENSP00000317661:R923Q	R	-	2	0	CACNA1A	13270682	0.026000	0.19158	0.898000	0.35279	0.087000	0.18053	1.586000	0.36611	1.791000	0.52520	0.462000	0.41574	CGA		0.776	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2		NM_000068		6	21	0	0	0	0.001984	0	6	21		
LPHN1	22859	broad.mit.edu	37	19	14269281	14269281	+	Missense_Mutation	SNP	C	C	T	rs146726289		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:14269281C>T	ENST00000340736.6	-	13	2545	c.2248G>A	c.(2248-2250)Gaa>Aaa	p.E750K	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.E745K	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	750					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.E750K(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGCCTGCTTCGCCGGCCAGC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18322	0.0		0.001	False		,,,				2504	0.0					uc010xnn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)|central_nervous_system(1)	5						c.(2248-2250)GAA>AAA		latrophilin 1 isoform 1 precursor							43.0	39.0	40.0					19																	14269281		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14269281C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2248G>A	19.37:g.14269281C>T	ENSP00000340688:p.Glu750Lys					LPHN1_uc010xno.1_Missense_Mutation_p.E745K|uc002myf.2_Intron	p.E750K	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			13	2544	-			750			Extracellular (Potential).		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.2248G>A	CCDS32928.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.02	2.410160	0.42715	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.10192	2.9;2.9	5.14	4.09	0.47781	Domain of unknown function DUF3497 (1);	0.120170	0.53938	D	0.000051	T	0.19087	0.0458	M	0.65498	2.005	0.21861	N	0.999504	P;D	0.55800	0.933;0.973	P;P	0.52598	0.578;0.703	T	0.07177	-1.0786	10	0.59425	D	0.04	.	7.2095	0.25925	0.0:0.7343:0.1744:0.0914	.	745;750	O94910-2;O94910	.;LPHN1_HUMAN	K	750;745	ENSP00000340688:E750K;ENSP00000355328:E745K	ENSP00000340688:E750K	E	-	1	0	LPHN1	14130281	1.000000	0.71417	0.005000	0.12908	0.000000	0.00434	6.091000	0.71406	1.141000	0.42275	-0.502000	0.04539	GAA		0.597	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1		NM_014921		16	45	0	0	0	0.003163	0	16	45		
OR7A5	26659	broad.mit.edu	37	19	14938601	14938601	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:14938601C>G	ENST00000322301.3	-	2	540	c.453G>C	c.(451-453)atG>atC	p.M151I	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.M151I			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	151					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M151I(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						ACAGAGCACTCATGGTCCAGG	0.488																																						uc002mzw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(451-453)ATG>ATC		olfactory receptor, family 7, subfamily A,							73.0	67.0	69.0					19																	14938601		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938601C>G	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.453G>C	19.37:g.14938601C>G	ENSP00000316955:p.Met151Ile					OR7A5_uc010xoa.1_Missense_Mutation_p.M151I	p.M151I	NM_017506	NP_059976	Q15622	OR7A5_HUMAN			1	676	-			151			Helical; Name=4; (Potential).		B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.453G>C	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	c	0.042	-1.279025	0.01410	.	.	ENSG00000188269	ENST00000322301	T	0.00414	7.52	3.13	-5.96	0.02234	GPCR, rhodopsin-like superfamily (1);	0.882556	0.09108	N	0.847424	T	0.00109	0.0003	N	0.02111	-0.68	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.32981	-0.9886	10	0.02654	T	1	.	5.1511	0.15009	0.0:0.3504:0.2663:0.3833	.	151	Q15622	OR7A5_HUMAN	I	151	ENSP00000316955:M151I	ENSP00000316955:M151I	M	-	3	0	OR7A5	14799601	0.000000	0.05858	0.000000	0.03702	0.247000	0.25773	-5.308000	0.00133	-0.859000	0.04105	0.134000	0.15878	ATG		0.488	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1		NM_017506		23	55	0	0	0	0.012319	0	23	55		
C19orf44	84167	broad.mit.edu	37	19	16611956	16611956	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:16611956C>G	ENST00000221671.3	+	2	509	c.353C>G	c.(352-354)tCt>tGt	p.S118C	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.S118C	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	118								p.S118C(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GACACGGAATCTGACTCAATG	0.552																																						uc002neh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(352-354)TCT>TGT		hypothetical protein LOC84167							52.0	61.0	58.0					19																	16611956		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16611956C>G	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.353C>G	19.37:g.16611956C>G	ENSP00000221671:p.Ser118Cys					MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S118C|C19orf44_uc002neg.2_Missense_Mutation_p.S118C|C19orf44_uc010eai.1_RNA	p.S118C	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN			2	426	+			118					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.353C>G	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787529	0.49997	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.18	5.18	0.71444	.	0.203527	0.33875	N	0.004477	T	0.56366	0.1980	M	0.61703	1.905	0.09310	N	1	D;D	0.71674	0.992;0.998	P;D	0.63877	0.875;0.919	T	0.53005	-0.8499	9	0.87932	D	0	-10.7593	9.882	0.41238	0.0:0.9068:0.0:0.0932	.	118;118	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	C	118	.	ENSP00000221671:S118C	S	+	2	0	C19orf44	16472956	0.024000	0.19004	0.010000	0.14722	0.010000	0.07245	2.030000	0.41108	2.421000	0.82119	0.655000	0.94253	TCT		0.552	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1		NM_032207		44	97	0	0	0	0.010771	0	44	97		
F2RL3	9002	broad.mit.edu	37	19	17000940	17000940	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:17000940C>T	ENST00000248076.3	+	2	996	c.666C>T	c.(664-666)cgC>cgT	p.R222R		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	222					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.R222R(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGCTGGCGCGCTCCGATCGCG	0.706																																						uc002nfa.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(664-666)CGC>CGT		coagulation factor II (thrombin) receptor-like 3							15.0	14.0	15.0					19																	17000940		2186	4281	6467	SO:0001819	synonymous_variant	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17000940C>T	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.666C>T	19.37:g.17000940C>T							p.R222R	NM_003950	NP_003941	Q96RI0	PAR4_HUMAN			2	841	+			222			Extracellular (Potential).		O76067|Q6DK42	Silent	SNP	ENST00000248076.3	37	c.666C>T	CCDS12350.1																																																																																				0.706	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1				8	18	0	0	0	0.004482	0	8	18		
MPV17L2	84769	broad.mit.edu	37	19	18305832	18305832	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:18305832G>C	ENST00000599612.2	+	4	600	c.500G>C	c.(499-501)cGa>cCa	p.R167P		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	167						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R167P(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4						CCCCAATTTCGAGTCACCTAC	0.642																																						uc002nid.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(499-501)CGA>CCA		MPV17 mitochondrial membrane protein-like 2							109.0	111.0	110.0					19																	18305832		2081	4216	6297	SO:0001583	missense	84769					integral to membrane		g.chr19:18305832G>C	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.500G>C	19.37:g.18305832G>C	ENSP00000469836:p.Arg167Pro					MPV17L2_uc010ebj.2_Silent_p.S77S	p.R167P	NM_032683	NP_116072	Q567V2	M17L2_HUMAN			4	552	+			167					Q96P34|Q96QA0|Q9BSG4	Missense_Mutation	SNP	ENST00000599612.2	37	c.500G>C	CCDS42522.1	.	.	.	.	.	.	.	.	.	.	g	26.9	4.783944	0.90282	.	.	ENSG00000254858	ENST00000534474;ENST00000247712	D	0.90504	-2.68	4.26	4.26	0.50523	.	0.068869	0.64402	D	0.000015	D	0.97018	0.9026	H	0.97659	4.05	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.98586	1.0652	10	0.87932	D	0	.	15.6227	0.76820	0.0:0.0:1.0:0.0	.	167	Q567V2	M17L2_HUMAN	P	142;167	ENSP00000247712:R167P	ENSP00000247712:R167P	R	+	2	0	MPV17L2	18166832	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.222000	0.95196	2.092000	0.63282	0.455000	0.32223	CGA		0.642	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2		NM_032683		26	96	0	0	0	0.012213	0	26	96		
CILP2	148113	broad.mit.edu	37	19	19651906	19651906	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:19651906C>G	ENST00000291495.5	+	4	528	c.443C>G	c.(442-444)tCg>tGg	p.S148W	CILP2_ENST00000586018.1_Missense_Mutation_p.S154W|CILP2_ENST00000588333.2_3'UTR	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	148	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.S148W(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCAGAAGCCTCGTGGGGCGCG	0.716																																						uc002nmv.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(442-444)TCG>TGG		cartilage intermediate layer protein 2							4.0	5.0	5.0					19																	19651906		2072	4089	6161	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19651906C>G	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.443C>G	19.37:g.19651906C>G	ENSP00000291495:p.Ser148Trp					CILP2_uc002nmw.3_Missense_Mutation_p.S154W	p.S148W	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			4	528	+			148			TSP type-1.		Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.443C>G	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258086	0.59321	.	.	ENSG00000160161	ENST00000291495	T	0.61158	0.13	4.15	1.88	0.25563	.	1.166880	0.06354	N	0.710381	T	0.59473	0.2196	M	0.73430	2.235	0.09310	N	1	P;P	0.45283	0.855;0.855	P;P	0.44696	0.458;0.458	T	0.44513	-0.9323	10	0.38643	T	0.18	-22.6049	4.7002	0.12823	0.2139:0.6683:0.0:0.1178	.	148;148	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	W	148	ENSP00000291495:S148W	ENSP00000291495:S148W	S	+	2	0	CILP2	19512906	0.000000	0.05858	0.057000	0.19452	0.585000	0.36419	-0.295000	0.08298	0.208000	0.20626	0.306000	0.20318	TCG		0.716	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3		NM_153221		5	3	0	0	0	0.000602	0	5	3		
ZNF507	22847	broad.mit.edu	37	19	32844356	32844356	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:32844356G>T	ENST00000311921.4	+	2	812	c.620G>T	c.(619-621)aGa>aTa	p.R207I	ZNF507_ENST00000544431.1_Missense_Mutation_p.R207I|ZNF507_ENST00000355898.5_Missense_Mutation_p.R207I	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	207					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.R207I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ACCACAGAAAGAAATGAAACC	0.458																																						uc002nte.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(619-621)AGA>ATA		zinc finger protein 507							85.0	82.0	83.0					19																	32844356		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844356G>T	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.620G>T	19.37:g.32844356G>T	ENSP00000312277:p.Arg207Ile					ZNF507_uc002ntc.2_Missense_Mutation_p.R207I|ZNF507_uc010xrn.1_Missense_Mutation_p.R207I|ZNF507_uc002ntd.2_Missense_Mutation_p.R207I	p.R207I	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN			3	892	+	Esophageal squamous(110;0.162)		207					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.620G>T	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	G	4.651	0.121068	0.08881	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.06371	3.6;3.6;3.31	5.9	3.81	0.43845	.	0.540943	0.22876	N	0.054569	T	0.07638	0.0192	L	0.54323	1.7	0.21984	N	0.999436	B;B	0.16396	0.01;0.017	B;B	0.13407	0.002;0.009	T	0.26744	-1.0094	10	0.27785	T	0.31	.	10.6821	0.45821	0.146:0.0:0.854:0.0	.	207;207	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	I	207	ENSP00000348162:R207I;ENSP00000312277:R207I;ENSP00000441549:R207I	ENSP00000312277:R207I	R	+	2	0	ZNF507	37536196	1.000000	0.71417	0.004000	0.12327	0.008000	0.06430	2.184000	0.42575	0.839000	0.34971	0.650000	0.86243	AGA		0.458	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3		NM_014910		24	64	1	0	3.5997e-14	0.014323	3.71169e-14	24	64		
KIRREL2	84063	broad.mit.edu	37	19	36349402	36349402	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:36349402G>A	ENST00000360202.5	+	3	502	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	KIRREL2_ENST00000592409.1_Missense_Mutation_p.E102K|KIRREL2_ENST00000262625.7_Missense_Mutation_p.E102K|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.E52K	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	102	Ig-like C2-type 1.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.E102K(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCATCATATGAATGTCAGGC	0.592																																						uc002ocb.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(304-306)GAA>AAA		kin of IRRE-like 2 isoform c							118.0	103.0	108.0					19																	36349402		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36349402G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.304G>A	19.37:g.36349402G>A	ENSP00000353331:p.Glu102Lys					KIRREL2_uc002obz.3_Missense_Mutation_p.E102K|KIRREL2_uc002oca.3_Missense_Mutation_p.E52K|KIRREL2_uc002occ.3_Missense_Mutation_p.E49K|KIRREL2_uc002ocd.3_Missense_Mutation_p.E99K	p.E102K	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	516	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		102			Ig-like C2-type 1.|Extracellular (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.304G>A	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012800	0.93346	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.27256	1.68;1.68;1.68	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46145	D	0.000318	T	0.51975	0.1706	M	0.74258	2.255	0.47994	D	0.999562	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.998	D;D;D;D;D	0.81914	0.989;0.981;0.995;0.991;0.991	T	0.52139	-0.8615	10	0.87932	D	0	-18.1578	15.7115	0.77631	0.0:0.0:1.0:0.0	.	102;102;102;52;102	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	K	102;52;102;102	ENSP00000262625:E102K;ENSP00000345067:E52K;ENSP00000353331:E102K	ENSP00000262625:E102K	E	+	1	0	KIRREL2	41041242	1.000000	0.71417	0.986000	0.45419	0.799000	0.45148	7.954000	0.87848	2.853000	0.98044	0.644000	0.83932	GAA		0.592	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1		NM_032123		20	98	0	0	0	0.008871	0	20	98		
KIRREL2	84063	broad.mit.edu	37	19	36349660	36349660	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:36349660G>C	ENST00000360202.5	+	4	614	c.416G>C	c.(415-417)gGa>gCa	p.G139A	KIRREL2_ENST00000592409.1_Missense_Mutation_p.G139A|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G139A|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.G89A	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	139	Ig-like C2-type 2.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.G139A(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGTTGCTGGAGTTCCTGCG	0.617																																						uc002ocb.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(415-417)GGA>GCA		kin of IRRE-like 2 isoform c							81.0	85.0	83.0					19																	36349660		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36349660G>C	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.416G>C	19.37:g.36349660G>C	ENSP00000353331:p.Gly139Ala					KIRREL2_uc002obz.3_Missense_Mutation_p.G139A|KIRREL2_uc002oca.3_Missense_Mutation_p.G89A|KIRREL2_uc002occ.3_Missense_Mutation_p.G86A|KIRREL2_uc002ocd.3_Missense_Mutation_p.G136A	p.G139A	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	628	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		139			Ig-like C2-type 2.|Extracellular (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.416G>C	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213160	0.58452	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	D;D;D	0.92446	-3.04;-3.04;-3.04	5.6	5.6	0.85130	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43747	D	0.000527	D	0.96793	0.8953	M	0.91300	3.195	0.39159	D	0.962371	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.994;0.999;0.988;0.988	D	0.97880	1.0291	10	0.72032	D	0.01	-16.1268	15.466	0.75400	0.0:0.0:1.0:0.0	.	139;139;139;89;139	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	A	139;89;139;139	ENSP00000262625:G139A;ENSP00000345067:G89A;ENSP00000353331:G139A	ENSP00000262625:G139A	G	+	2	0	KIRREL2	41041500	0.992000	0.36948	1.000000	0.80357	0.391000	0.30476	2.713000	0.47194	2.793000	0.96121	0.563000	0.77884	GGA		0.617	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1		NM_032123		34	118	0	0	0	0.004289	0	34	118		
ZNF461	92283	broad.mit.edu	37	19	37130933	37130933	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:37130933C>G	ENST00000588268.1	-	6	541	c.314G>C	c.(313-315)aGa>aCa	p.R105T	ZNF461_ENST00000360357.4_Missense_Mutation_p.R82T|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	105					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.R105T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGCTCATCTCTGGATGCCAA	0.343																																						uc002oem.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(313-315)AGA>ACA		gonadotropin inducible transcription repressor							44.0	44.0	44.0					19																	37130933		1805	4061	5866	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37130933C>G	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.314G>C	19.37:g.37130933C>G	ENSP00000467931:p.Arg105Thr					ZNF461_uc002oen.2_Missense_Mutation_p.R74T|ZNF461_uc010xtj.1_Missense_Mutation_p.R82T	p.R105T	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	542	-	Esophageal squamous(110;0.198)		105					A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.314G>C	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	C	0.105	-1.147237	0.01714	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000396892	T	0.06528	3.29	3.31	-0.342	0.12635	.	.	.	.	.	T	0.05410	0.0143	L	0.49126	1.545	0.09310	N	1	B;B;B	0.26002	0.047;0.139;0.139	B;B;B	0.19946	0.027;0.027;0.027	T	0.45145	-0.9281	9	0.15499	T	0.54	.	5.677	0.17753	0.0:0.5849:0.0:0.4151	.	82;27;105	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	T	105;82;40	ENSP00000353515:R82T	ENSP00000353515:R82T	R	-	2	0	ZNF461	41822773	0.000000	0.05858	0.001000	0.08648	0.119000	0.20118	-1.657000	0.01979	0.021000	0.15133	0.655000	0.94253	AGA		0.343	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1		NM_153257		23	83	0	0	0	0.014323	0	23	83		
GGN	199720	broad.mit.edu	37	19	38877342	38877342	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:38877342C>T	ENST00000334928.6	-	3	692	c.560G>A	c.(559-561)aGa>aAa	p.R187K	AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron|SPRED3_ENST00000586301.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	187	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)		p.R187K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGAGTGATTCTGCGGTCCGC	0.692																																						uc002oij.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(559-561)AGA>AAA		gametogenetin							10.0	13.0	12.0					19																	38877342		2180	4267	6447	SO:0001583	missense	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38877342C>T	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.560G>A	19.37:g.38877342C>T	ENSP00000334940:p.Arg187Lys					GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.R104K	p.R187K	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	695	-	all_cancers(60;3.4e-06)		187			Interaction with GGNBP1 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	c.560G>A	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	C	2.854	-0.237574	0.05944	.	.	ENSG00000179168	ENST00000334928;ENST00000392116	.	.	.	3.91	2.87	0.33458	.	0.725551	0.11969	N	0.511989	T	0.24275	0.0588	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.28618	-1.0038	9	0.06365	T	0.9	0.1484	7.2236	0.26002	0.0:0.8759:0.0:0.1241	.	104;187	Q86UU5-2;Q86UU5	.;GGN_HUMAN	K	187	.	ENSP00000334940:R187K	R	-	2	0	GGN	43569182	0.000000	0.05858	0.110000	0.21437	0.472000	0.32918	0.204000	0.17335	0.841000	0.35020	0.462000	0.41574	AGA		0.692	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1		NM_152657		4	7	0	0	0	0.000602	0	4	7		
RYR1	6261	broad.mit.edu	37	19	39008108	39008108	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:39008108G>A	ENST00000359596.3	+	66	9795	c.9795G>A	c.(9793-9795)gaG>gaA	p.E3265E	RYR1_ENST00000360985.3_Silent_p.E3265E|RYR1_ENST00000355481.4_Silent_p.E3265E			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3265					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E3265E(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCTACACAGAGATGCCGCATG	0.672																																						uc002oit.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(9793-9795)GAG>GAA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						54.0	46.0	48.0					19																	39008108		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39008108G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9795G>A	19.37:g.39008108G>A						RYR1_uc002oiu.2_Silent_p.E3265E|RYR1_uc002oiv.1_Silent_p.E185E|RYR1_uc010xuf.1_Silent_p.E185E	p.E3265E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		66	9925	+	all_cancers(60;7.91e-06)		3265					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.9795G>A	CCDS33011.1																																																																																				0.672	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1				16	45	0	0	0	0.004007	0	16	45		
RYR1	6261	broad.mit.edu	37	19	39061261	39061261	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:39061261G>A	ENST00000359596.3	+	94	13674	c.13674G>A	c.(13672-13674)cgG>cgA	p.R4558R	RYR1_ENST00000360985.3_Silent_p.R4553R|RYR1_ENST00000355481.4_Silent_p.R4553R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4558			R -> Q (in CCD; autosomal recessive form). {ECO:0000269|PubMed:17226826, ECO:0000269|PubMed:18253926}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R4558R(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACCTGTCCCGGAACTTTTACA	0.483																																						uc002oit.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(13672-13674)CGG>CGA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						182.0	177.0	179.0					19																	39061261		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39061261G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.13674G>A	19.37:g.39061261G>A						RYR1_uc002oiu.2_Silent_p.R4553R	p.R4558R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		94	13804	+	all_cancers(60;7.91e-06)		4558		R -> Q (in CCD; autosomal recessive form).			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.13674G>A	CCDS33011.1																																																																																				0.483	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1				39	144	0	0	0	0.009718	0	39	144		
HNRNPUL1	11100	broad.mit.edu	37	19	41770632	41770632	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:41770632C>T	ENST00000392006.3	+	1	397	c.224C>T	c.(223-225)aCc>aTc	p.T75I	HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.T75I|HNRNPUL1_ENST00000595018.1_Intron|HNRNPUL1_ENST00000593587.1_5'Flank|HNRNPUL1_ENST00000352456.3_Intron|HNRNPUL1_ENST00000378215.4_Intron|HNRNPUL1_ENST00000263367.3_5'Flank	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	75	Necessary for interaction with HRMT1L1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T75I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGGAGGGGACCGCGCAGCCA	0.766																																						uc002oqb.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(223-225)ACC>ATC		heterogeneous nuclear ribonucleoprotein U-like 1							3.0	5.0	4.0					19																	41770632		1682	3575	5257	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41770632C>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.224C>T	19.37:g.41770632C>T	ENSP00000375863:p.Thr75Ile					CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Intron|HNRNPUL1_uc002oqa.3_Intron|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.T75I|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Intron|HNRNPUL1_uc010ehn.2_5'Flank|HNRNPUL1_uc010eho.2_5'Flank|HNRNPUL1_uc010xvy.1_5'Flank|HNRNPUL1_uc010ehl.1_Intron	p.T75I	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN			1	513	+			75			Necessary for interaction with HRMT1L1.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.224C>T	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644337	0.29246	.	.	ENSG00000105323	ENST00000392006	T	0.23147	1.92	3.9	3.9	0.45041	.	1.359770	0.04589	N	0.396351	T	0.17365	0.0417	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.004	T	0.03325	-1.1048	10	0.39692	T	0.17	-11.7056	11.2486	0.49013	0.0:1.0:0.0:0.0	.	75;75	Q9BUJ2-2;Q9BUJ2	.;HNRL1_HUMAN	I	75	ENSP00000375863:T75I	ENSP00000375863:T75I	T	+	2	0	HNRNPUL1	46462472	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.679000	0.37597	1.992000	0.58205	0.491000	0.48974	ACC		0.766	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1		NM_144732, NM_007040		4	3	0	0	0	0.000602	0	4	3		
EXOSC5	56915	broad.mit.edu	37	19	41892596	41892596	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:41892596G>C	ENST00000221233.4	-	6	800	c.650C>G	c.(649-651)tCg>tGg	p.S217W	EXOSC5_ENST00000596905.1_Missense_Mutation_p.S179W|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	217					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)	p.S217W(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						GACGTGTTGCGAAGCGGCCTG	0.662																																						uc002oqo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(649-651)TCG>TGG		exosome component Rrp46							30.0	27.0	28.0					19																	41892596		2200	4299	6499	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41892596G>C	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.650C>G	19.37:g.41892596G>C	ENSP00000221233:p.Ser217Trp					CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron	p.S217W	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN			6	673	-			217					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.650C>G	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149336	0.78001	.	.	ENSG00000077348	ENST00000221233	T	0.33654	1.4	5.08	5.08	0.68730	Exoribonuclease, phosphorolytic domain 2 (1);	0.064932	0.64402	D	0.000005	T	0.60907	0.2305	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63954	-0.6520	10	0.66056	D	0.02	-10.815	16.008	0.80377	0.0:0.0:1.0:0.0	.	217	Q9NQT4	EXOS5_HUMAN	W	217	ENSP00000221233:S217W	ENSP00000221233:S217W	S	-	2	0	EXOSC5	46584436	1.000000	0.71417	0.831000	0.32960	0.845000	0.48019	4.961000	0.63681	2.623000	0.88846	0.655000	0.94253	TCG		0.662	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1		NM_020158		5	9	0	0	0	0.000602	0	5	9		
PSG3	5671	broad.mit.edu	37	19	43233301	43233301	+	Missense_Mutation	SNP	G	G	C	rs141177217	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:43233301G>C	ENST00000327495.5	-	5	1401	c.1217C>G	c.(1216-1218)tCc>tGc	p.S406C	PSG3_ENST00000595140.1_Missense_Mutation_p.S406C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	406	Ig-like C2-type 3.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S406C(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CATGGATTTGGAGCTTTCCAT	0.473																																						uc002oue.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1216-1218)TCC>TGC		pregnancy specific beta-1-glycoprotein 3		G	CYS/SER	0,4406		0,0,2203	179.0	180.0	180.0		1217	1.3	0.0	19	dbSNP_134	180	2,8598		0,2,4298	no	missense	PSG3	NM_021016.3	112	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	probably-damaging	406/429	43233301	2,13004	2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43233301G>C		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1217C>G	19.37:g.43233301G>C	ENSP00000332215:p.Ser406Cys					PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Missense_Mutation_p.S406C|PSG3_uc010eil.2_Missense_Mutation_p.S428C	p.S406C	NM_021016	NP_066296	Q16557	PSG3_HUMAN			5	1349	-		Prostate(69;0.00682)	406			Ig-like C2-type 3.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.1217C>G	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	N	10.29	1.310399	0.23821	0.0	2.33E-4	ENSG00000221826	ENST00000327495	T	0.20738	2.05	1.33	1.33	0.21861	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50257	0.1605	H	0.94964	3.605	0.09310	N	1	D;D;D	0.67145	0.996;0.996;0.994	D;D;D	0.67382	0.928;0.94;0.951	T	0.32348	-0.9910	9	0.87932	D	0	.	5.9829	0.19417	0.0:0.0:1.0:0.0	.	330;406;406	Q08266;P11464-2;Q16557	.;.;PSG3_HUMAN	C	406	ENSP00000332215:S406C	ENSP00000332215:S406C	S	-	2	0	PSG3	47925141	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	-0.313000	0.08103	0.690000	0.31570	0.393000	0.25936	TCC		0.473	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2		NM_021016		67	259	0	0	0	0.01441	0	67	259		
LYPD5	284348	broad.mit.edu	37	19	44301925	44301925	+	Missense_Mutation	SNP	C	C	T	rs114185213	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:44301925C>T	ENST00000377950.3	-	5	654	c.574G>A	c.(574-576)Gag>Aag	p.E192K	LYPD5_ENST00000414615.2_Missense_Mutation_p.E149K|LYPD5_ENST00000594013.1_Missense_Mutation_p.E149K|AC115522.3_ENST00000595680.1_lincRNA	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	192	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.E192K(1)|p.E149K(1)		breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				GTGGTGCCCTCGGTGGTGCAG	0.612													C|||	11	0.00219649	0.0008	0.0	5008	,	,		19411	0.0089		0.0	False		,,,				2504	0.001					uc002oxm.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(574-576)GAG>AAG		LY6/PLAUR domain containing 5 isoform A		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	70.0	65.0	66.0		574,445	-7.6	0.0	19	dbSNP_132	66	0,8600		0,0,4300	no	missense,missense	LYPD5	NM_001031749.2,NM_182573.2	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	192/252,149/209	44301925	1,13005	2203	4300	6503	SO:0001583	missense	284348					anchored to membrane|plasma membrane		g.chr19:44301925C>T	AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.574G>A	19.37:g.44301925C>T	ENSP00000367185:p.Glu192Lys					LYPD5_uc002oxn.3_Missense_Mutation_p.E149K	p.E192K	NM_001031749	NP_001026919	Q6UWN5	LYPD5_HUMAN			5	655	-		Prostate(69;0.0352)	192			UPAR/Ly6.		Q6PEX9|Q96DR2	Missense_Mutation	SNP	ENST00000377950.3	37	c.574G>A	CCDS46096.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.639690	0.00799	2.27E-4	0.0	ENSG00000159871	ENST00000377950;ENST00000414615	T;T	0.70045	-0.45;-0.45	3.82	-7.64	0.01286	CD59 antigen (1);	2.064730	0.02946	N	0.141071	T	0.34513	0.0900	N	0.02539	-0.55	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.38329	-0.9666	10	0.10902	T	0.67	1.9189	8.7906	0.34848	0.0:0.5261:0.2576:0.2163	.	192	Q6UWN5	LYPD5_HUMAN	K	192;149	ENSP00000367185:E192K;ENSP00000408433:E149K	ENSP00000367185:E192K	E	-	1	0	LYPD5	48993765	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-2.093000	0.01353	-2.275000	0.00679	-1.090000	0.02178	GAG		0.612	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463611.1		NM_182573		11	57	0	0	0	0.008291	0	11	57		
ZNF222	7673	broad.mit.edu	37	19	44537161	44537161	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:44537161C>G	ENST00000187879.8	+	4	1496	c.1334C>G	c.(1333-1335)tCa>tGa	p.S445*	ZNF222_ENST00000391960.3_Nonsense_Mutation_p.S485*|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	445					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.S485*(1)|p.S445*(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				ATAATTTTATCAttattttta	0.333																																						uc002oyc.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(3)	3						c.(1333-1335)TCA>TGA		zinc finger protein 222 isoform 2							20.0	22.0	21.0					19																	44537161		2194	4293	6487	SO:0001587	stop_gained	7673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44537161C>G	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.1334C>G	19.37:g.44537161C>G	ENSP00000187879:p.Ser445*					ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Nonsense_Mutation_p.S485*|ZNF222_uc002oyd.2_Nonsense_Mutation_p.S391*	p.S445*	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN			4	1517	+		Prostate(69;0.0435)	445					G5E9B9|Q8N6G7|Q9P1U5	Nonsense_Mutation	SNP	ENST00000187879.8	37	c.1334C>G	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.371104	0.61624	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	.	.	.	1.71	1.71	0.24356	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999958	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	2.4287	0.04466	0.2952:0.5168:0.0:0.188	.	.	.	.	X	485;445;391	.	ENSP00000187879:S445X	S	+	2	0	ZNF222	49229001	0.041000	0.20044	0.006000	0.13384	0.452000	0.32318	0.025000	0.13577	0.911000	0.36747	0.205000	0.17691	TCA		0.333	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2				6	31	0	0	0	0.001168	0	6	31		
ZNF227	7770	broad.mit.edu	37	19	44739461	44739461	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:44739461G>A	ENST00000313040.7	+	6	1083	c.878G>A	c.(877-879)gGa>gAa	p.G293E	ZNF227_ENST00000589005.1_Missense_Mutation_p.G242E|ZNF227_ENST00000391961.2_Missense_Mutation_p.G242E	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	293					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.G293E(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ATTCACCCAGGAGAGAAACTC	0.398																																						uc002oyu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(877-879)GGA>GAA		zinc finger protein 227							52.0	52.0	52.0					19																	44739461		2203	4300	6503	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44739461G>A	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.878G>A	19.37:g.44739461G>A	ENSP00000321049:p.Gly293Glu					ZNF227_uc010xwu.1_Missense_Mutation_p.G242E|ZNF227_uc002oyv.2_Missense_Mutation_p.G293E|ZNF227_uc010xwv.1_Missense_Mutation_p.G242E|ZNF227_uc010xww.1_Missense_Mutation_p.G214E|ZNF227_uc002oyw.2_Missense_Mutation_p.G265E|ZNF227_uc010ejh.2_Missense_Mutation_p.G286E|ZNF235_uc002oyx.1_Intron	p.G293E	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN			6	1083	+		Prostate(69;0.0435)	293					B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.878G>A	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793674	0.31685	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980	T;T	0.20069	2.1;2.1	4.27	0.791	0.18619	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13841	0.0335	L	0.35414	1.06	0.80722	D	1	B;B;B;B	0.16166	0.016;0.016;0.016;0.016	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.07328	-1.0778	9	0.49607	T	0.09	.	6.0769	0.19921	0.1708:0.2964:0.5328:0.0	.	214;272;245;293	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	E	293;250;242;272	ENSP00000321049:G293E;ENSP00000375823:G242E	ENSP00000321049:G293E	G	+	2	0	ZNF227	49431301	0.120000	0.22244	0.001000	0.08648	0.218000	0.24690	0.732000	0.26072	0.162000	0.19483	0.563000	0.77884	GGA		0.398	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1		NM_182490		18	43	0	0	0	0.00499	0	18	43		
NKPD1	284353	broad.mit.edu	37	19	45655522	45655522	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:45655522G>A	ENST00000438936.2	-	3	1718	c.1507C>T	c.(1507-1509)Ctg>Ttg	p.L503L	NKPD1_ENST00000429338.1_Intron|NKPD1_ENST00000317951.4_Silent_p.L725L|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000589776.1_Silent_p.L503L			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	503						integral component of membrane (GO:0016021)		p.L503L(1)		endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TCGGCGCCCAGGAAGCGCTCG	0.672																																						uc010xxi.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(2173-2175)CTG>TTG		NTPase, KAP family P-loop domain containing 1							11.0	14.0	13.0					19																	45655522		1972	4120	6092	SO:0001819	synonymous_variant	284353							g.chr19:45655522G>A	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1507C>T	19.37:g.45655522G>A							p.L725L	NM_198478	NP_940880				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	2173	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Silent	SNP	ENST00000438936.2	37	c.2173C>T																																																																																					0.672	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2		NM_198478		5	11	0	0	0	0.001168	0	5	11		
KCNJ14	3770	broad.mit.edu	37	19	48967834	48967834	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:48967834G>C	ENST00000391884.1	+	2	1587	c.1111G>C	c.(1111-1113)Gag>Cag	p.E371Q	CTC-273B12.5_ENST00000600650.1_RNA|CTC-273B12.5_ENST00000596497.1_RNA|KCNJ14_ENST00000342291.2_Missense_Mutation_p.E371Q|CTC-273B12.5_ENST00000593476.1_RNA|CTC-273B12.5_ENST00000600529.1_RNA|CTC-273B12.6_ENST00000597574.1_lincRNA|CTC-273B12.7_ENST00000595676.1_5'Flank			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	371					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.E371Q(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	TGAACGGGCAGAGCAGGCTTC	0.552																																					NSCLC(148;170 3504 35216)	uc002pje.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1111-1113)GAG>CAG		potassium inwardly-rectifying channel J14							67.0	66.0	66.0					19																	48967834		2203	4300	6503	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48967834G>C	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.1111G>C	19.37:g.48967834G>C	ENSP00000375756:p.Glu371Gln					KCNJ14_uc002pjf.1_Missense_Mutation_p.E371Q	p.E371Q	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	3	1516	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	371			Cytoplasmic (By similarity).			Missense_Mutation	SNP	ENST00000391884.1	37	c.1111G>C	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.570663	0.45798	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.93712	-3.27;-3.27	5.24	5.24	0.73138	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.343988	0.30085	N	0.010444	D	0.86096	0.5851	N	0.12182	0.205	0.36918	D	0.89122	B	0.19935	0.04	B	0.29663	0.105	T	0.82145	-0.0602	10	0.19590	T	0.45	.	12.0958	0.53755	0.0:0.0:0.8279:0.1721	.	371	Q9UNX9	IRK14_HUMAN	Q	371	ENSP00000341479:E371Q;ENSP00000375756:E371Q	ENSP00000341479:E371Q	E	+	1	0	KCNJ14	53659646	0.941000	0.31946	0.998000	0.56505	0.941000	0.58515	3.045000	0.49838	2.837000	0.97791	0.655000	0.94253	GAG		0.552	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1		NM_013348		17	68	0	0	0	0.006122	0	17	68		
SPHK2	56848	broad.mit.edu	37	19	49132338	49132338	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:49132338C>G	ENST00000245222.4	+	7	1639	c.1273C>G	c.(1273-1275)Ctt>Gtt	p.L425V	SPHK2_ENST00000599029.1_Missense_Mutation_p.L389V|SPHK2_ENST00000599748.1_Missense_Mutation_p.L389V|SPHK2_ENST00000600537.1_Missense_Mutation_p.L366V|SPHK2_ENST00000340932.3_Missense_Mutation_p.L387V|SPHK2_ENST00000443164.1_Missense_Mutation_p.L487V|SPHK2_ENST00000598088.1_Missense_Mutation_p.L425V	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	425					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)	p.L425V(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		tgacctgcctcttcccctgcc	0.687																																						uc002pjr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(1273-1275)CTT>GTT		sphingosine kinase 2							22.0	24.0	23.0					19																	49132338		2201	4293	6494	SO:0001583	missense	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132338C>G	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1273C>G	19.37:g.49132338C>G	ENSP00000245222:p.Leu425Val					SPHK2_uc010xzt.1_Missense_Mutation_p.L366V|SPHK2_uc002pjs.2_Missense_Mutation_p.L425V|SPHK2_uc002pjt.2_Missense_Mutation_p.L219V|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Missense_Mutation_p.L389V|SPHK2_uc002pjw.2_Missense_Mutation_p.L487V	p.L425V	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	7	1639	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	425					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	c.1273C>G	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581236	0.28180	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.26373	2.13;1.85;1.74	4.37	3.33	0.38152	.	0.454339	0.19384	N	0.115595	T	0.13243	0.0321	N	0.08118	0	0.34138	D	0.665995	P;P;P	0.51791	0.948;0.649;0.649	B;B;B	0.43701	0.428;0.259;0.259	T	0.16158	-1.0412	10	0.32370	T	0.25	-34.5853	8.3428	0.32254	0.0:0.8905:0.0:0.1095	.	366;487;425	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	V	425;398;387;487	ENSP00000245222:L425V;ENSP00000341091:L387V;ENSP00000413369:L487V	ENSP00000245222:L425V	L	+	1	0	SPHK2	53824150	0.983000	0.35010	0.993000	0.49108	0.382000	0.30200	3.078000	0.50096	1.199000	0.43173	0.655000	0.94253	CTT		0.687	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1				9	45	0	0	0	0.006214	0	9	45		
SPHK2	56848	broad.mit.edu	37	19	49132817	49132817	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:49132817C>G	ENST00000245222.4	+	7	2118	c.1752C>G	c.(1750-1752)ttC>ttG	p.F584L	SPHK2_ENST00000599029.1_Missense_Mutation_p.F548L|SPHK2_ENST00000599748.1_Missense_Mutation_p.F548L|SPHK2_ENST00000600537.1_Missense_Mutation_p.F525L|SPHK2_ENST00000340932.3_Missense_Mutation_p.F546L|SPHK2_ENST00000443164.1_Missense_Mutation_p.F646L|SPHK2_ENST00000598088.1_Missense_Mutation_p.F584L	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	584					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)	p.F584L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TGCGCCTTTTCTTGGCCATGG	0.701																																						uc002pjr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(1750-1752)TTC>TTG		sphingosine kinase 2							20.0	17.0	18.0					19																	49132817		2195	4294	6489	SO:0001583	missense	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132817C>G	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1752C>G	19.37:g.49132817C>G	ENSP00000245222:p.Phe584Leu					SPHK2_uc010xzt.1_Missense_Mutation_p.F525L|SPHK2_uc002pjs.2_Missense_Mutation_p.F584L|SPHK2_uc002pjt.2_Missense_Mutation_p.F378L|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Missense_Mutation_p.F548L|SPHK2_uc002pjw.2_Missense_Mutation_p.F646L	p.F584L	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	7	2118	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	584					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	c.1752C>G	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	C	6.026	0.373198	0.11409	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.11385	2.78;2.78;2.78	4.68	-1.19	0.09585	.	0.052942	0.85682	N	0.000000	T	0.04861	0.0131	N	0.25060	0.705	0.27119	N	0.962186	B;B;B	0.23735	0.013;0.09;0.058	B;B;B	0.22386	0.013;0.039;0.022	T	0.42224	-0.9464	10	0.10902	T	0.67	-27.6904	5.407	0.16326	0.0:0.4939:0.1493:0.3568	.	525;646;584	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	L	584;557;546;646	ENSP00000245222:F584L;ENSP00000341091:F546L;ENSP00000413369:F646L	ENSP00000245222:F584L	F	+	3	2	SPHK2	53824629	1.000000	0.71417	0.980000	0.43619	0.860000	0.49131	1.375000	0.34295	0.030000	0.15379	0.555000	0.69702	TTC		0.701	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1				2	6	0	0	0	0.004672	0	2	6		
PLEKHA4	57664	broad.mit.edu	37	19	49362759	49362759	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:49362759G>C	ENST00000263265.6	-	7	1214	c.659C>G	c.(658-660)tCt>tGt	p.S220C	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.S220C	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	220	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)	p.S220C(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTGGAGTCCAGAGTGGAGGTC	0.632																																						uc002pkx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(658-660)TCT>TGT		pleckstrin homology domain containing family A							50.0	43.0	46.0					19																	49362759		2203	4300	6503	SO:0001583	missense	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49362759G>C	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.659C>G	19.37:g.49362759G>C	ENSP00000263265:p.Ser220Cys					PLEKHA4_uc002pkw.1_5'Flank|PLEKHA4_uc010eml.2_Missense_Mutation_p.S220C	p.S220C	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	7	1210	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	220			Pro-rich.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.659C>G	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809258	0.31961	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.15603	3.0;2.41	4.7	1.21	0.21127	.	1.017030	0.07850	N	0.964455	T	0.15305	0.0369	N	0.24115	0.695	0.09310	N	1	P;D	0.60575	0.924;0.988	P;P	0.50231	0.518;0.635	T	0.20739	-1.0266	10	0.59425	D	0.04	.	3.6806	0.08309	0.2042:0.0:0.6009:0.1949	.	220;220	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	C	220	ENSP00000263265:S220C;ENSP00000347683:S220C	ENSP00000263265:S220C	S	-	2	0	PLEKHA4	54054571	0.010000	0.17322	0.134000	0.22075	0.023000	0.10783	1.170000	0.31883	0.726000	0.32339	0.462000	0.41574	TCT		0.632	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1				17	62	0	0	0	0.00499	0	17	62		
SLC6A16	28968	broad.mit.edu	37	19	49814319	49814319	+	Missense_Mutation	SNP	C	C	G	rs148710394		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:49814319C>G	ENST00000335875.4	-	2	527	c.286G>C	c.(286-288)Gag>Cag	p.E96Q	SLC6A16_ENST00000454748.3_Missense_Mutation_p.E96Q|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	96					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)	p.E96Q(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		ACCTCACTCTCTTTCTTCTCT	0.517																																						uc002pmz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)|kidney(1)	4						c.(286-288)GAG>CAG		solute carrier family 6, member 16							100.0	101.0	101.0					19																	49814319		2010	4164	6174	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49814319C>G	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.286G>C	19.37:g.49814319C>G	ENSP00000338627:p.Glu96Gln					SLC6A16_uc002pna.2_Missense_Mutation_p.E96Q|hsa-mir-4324|MI0015854_5'Flank	p.E96Q	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	2	520	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	96			Cytoplasmic (Potential).		Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.286G>C	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	C	8.524	0.869538	0.17322	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.74315	-0.83;-0.8	4.62	-9.24	0.00669	.	1.219440	0.05802	N	0.612452	T	0.44456	0.1294	N	0.08118	0	0.09310	N	1	B;B	0.23442	0.085;0.085	B;B	0.14023	0.01;0.01	T	0.37934	-0.9684	10	0.40728	T	0.16	.	2.8559	0.05572	0.0938:0.256:0.1989:0.4512	.	96;96	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	Q	96	ENSP00000338627:E96Q;ENSP00000404022:E96Q	ENSP00000338627:E96Q	E	-	1	0	SLC6A16	54506131	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.245000	0.02899	-2.745000	0.00377	-0.880000	0.02959	GAG		0.517	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2		NM_014037		27	92	0	0	0	0.008361	0	27	92		
PRR12	57479	broad.mit.edu	37	19	50099726	50099726	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:50099726G>A	ENST00000418929.2	+	4	2146	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)	p.E712K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CAGCCTGGATGAGGGTGCCAC	0.682																																						uc002poo.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|pancreas(1)	2						c.(2134-2136)GAG>AAG		proline rich 12							14.0	17.0	16.0					19																	50099726		1974	4143	6117	SO:0001583	missense	57479						DNA binding	g.chr19:50099726G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2134G>A	19.37:g.50099726G>A	ENSP00000394510:p.Glu712Lys						p.E712K	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2134	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.2134G>A	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756508	0.31137	.	.	ENSG00000126464	ENST00000418929	.	.	.	4.07	4.07	0.47477	.	.	.	.	.	T	0.32971	0.0847	.	.	.	0.20563	N	0.999889	B	0.27732	0.187	B	0.24701	0.055	T	0.17806	-1.0357	7	0.42905	T	0.14	.	12.1253	0.53913	0.0:0.0:1.0:0.0	.	712	Q9ULL5-3	.	K	712	.	ENSP00000394510:E712K	E	+	1	0	PRR12	54791538	0.991000	0.36638	0.945000	0.38365	0.976000	0.68499	2.418000	0.44662	2.006000	0.58801	0.313000	0.20887	GAG		0.682	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1		NM_020719		7	12	0	0	0	0.001984	0	7	12		
CPT1C	126129	broad.mit.edu	37	19	50209292	50209292	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:50209292G>A	ENST00000392518.4	+	11	1463	c.1091G>A	c.(1090-1092)aGa>aAa	p.R364K	CPT1C_ENST00000354199.5_Missense_Mutation_p.R364K|CPT1C_ENST00000405931.2_Missense_Mutation_p.R353K|CPT1C_ENST00000598293.1_Missense_Mutation_p.R364K|CPT1C_ENST00000323446.5_Missense_Mutation_p.R364K	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	364					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.R364K(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CAGTTTCAGAGAATCCTGGAT	0.632																																						uc002ppj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1090-1092)AGA>AAA		carnitine palmitoyltransferase 1C isoform 2							52.0	47.0	49.0					19																	50209292		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50209292G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1091G>A	19.37:g.50209292G>A	ENSP00000376303:p.Arg364Lys					CPT1C_uc002ppl.3_Missense_Mutation_p.R330K|CPT1C_uc002ppi.2_Missense_Mutation_p.R281K|CPT1C_uc002ppk.2_Missense_Mutation_p.R353K|CPT1C_uc010eng.2_Missense_Mutation_p.R364K|CPT1C_uc010enh.2_Missense_Mutation_p.R364K|CPT1C_uc010ybc.1_Missense_Mutation_p.R235K|CPT1C_uc010eni.1_Missense_Mutation_p.R21K	p.R364K	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	10	1296	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	364			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.1091G>A	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790580	0.31685	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	4.29	0.837	0.18896	.	0.586746	0.14200	N	0.334764	T	0.73598	0.3607	N	0.11651	0.15	0.09310	N	1	B;B;B;B	0.22003	0.022;0.063;0.016;0.001	B;B;B;B	0.22152	0.038;0.022;0.015;0.026	T	0.60271	-0.7296	10	0.27785	T	0.31	-1.3546	4.3763	0.11272	0.3901:0.1634:0.4465:0.0	.	235;364;353;364	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	K	364;364;353;364;235	ENSP00000376303:R364K;ENSP00000346138:R364K;ENSP00000384465:R353K;ENSP00000319343:R364K	ENSP00000295404:R235K	R	+	2	0	CPT1C	54901104	0.006000	0.16342	0.877000	0.34402	0.901000	0.52897	1.554000	0.36266	0.442000	0.26555	-0.228000	0.12330	AGA		0.632	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1		NM_152359		22	69	0	0	0	0.012319	0	22	69		
ZNF845	91664	broad.mit.edu	37	19	53855026	53855026	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:53855026C>G	ENST00000595091.1	+	5	1317	c.1098C>G	c.(1096-1098)ttC>ttG	p.F366L	ZNF845_ENST00000458035.1_Missense_Mutation_p.F366L			Q96IR2	ZN845_HUMAN	zinc finger protein 845	366					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.F366L(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CTTTCAGTTTCAAATCAAACC	0.398																																						uc010ydv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1096-1098)TTC>TTG		zinc finger protein 845							31.0	30.0	30.0					19																	53855026		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855026C>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1098C>G	19.37:g.53855026C>G	ENSP00000470005:p.Phe366Leu					ZNF845_uc010ydw.1_Missense_Mutation_p.F366L	p.F366L	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	1215	+			366			C2H2-type 6.			Missense_Mutation	SNP	ENST00000595091.1	37	c.1098C>G	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	4.033	0.003705	0.07866	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.12879	2.64	2.05	-4.11	0.03928	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04724	0.0128	N	0.11789	0.175	0.09310	N	1	B	0.18310	0.027	B	0.17098	0.017	T	0.33523	-0.9865	9	0.11485	T	0.65	.	0.7164	0.00932	0.1838:0.2603:0.2992:0.2567	.	366	Q96IR2	ZN845_HUMAN	L	366	ENSP00000388311:F366L	ENSP00000412086:F366L	F	+	3	2	ZNF845	58546838	0.000000	0.05858	0.000000	0.03702	0.906000	0.53458	-11.696000	0.00003	-3.076000	0.00252	0.205000	0.17691	TTC		0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1		XM_039908		24	71	0	0	0	0.00333	0	24	71		
CNOT3	4849	broad.mit.edu	37	19	54646863	54646863	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:54646863G>C	ENST00000406403.1	+	2	1637	c.34G>C	c.(34-36)Gat>Cat	p.D12H	CNOT3_ENST00000221232.5_Missense_Mutation_p.D12H|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	12					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.D12H(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)					AGGTGAGATTGATCGCTGCCT	0.537																																						uc002qdj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(34-36)GAT>CAT		CCR4-NOT transcription complex, subunit 3							189.0	186.0	187.0					19																	54646863		2203	4300	6503	SO:0001583	missense	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.chr19:54646863G>C	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.34G>C	19.37:g.54646863G>C	ENSP00000383954:p.Asp12His					CNOT3_uc010yel.1_Missense_Mutation_p.D12H|CNOT3_uc002qdi.2_5'UTR|CNOT3_uc002qdk.1_Missense_Mutation_p.D12H|CNOT3_uc010ere.1_5'Flank	p.D12H	NM_014516	NP_055331	O75175	CNOT3_HUMAN			3	345	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		12					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.34G>C	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696835	0.88830	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.69926	-0.44;-0.44	5.04	5.04	0.67666	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83709	0.5313	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	D	0.86569	0.1846	10	0.87932	D	0	-19.6694	17.5375	0.87837	0.0:0.0:1.0:0.0	.	12;12	B7Z6J7;O75175	.;CNOT3_HUMAN	H	12	ENSP00000221232:D12H;ENSP00000383954:D12H	ENSP00000221232:D12H	D	+	1	0	CNOT3	59338675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.832000	0.92079	2.512000	0.84698	0.655000	0.94253	GAT		0.537	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3		NM_014516		36	247	0	0	0	0.009718	0	36	247		
CNOT3	4849	broad.mit.edu	37	19	54646887	54646887	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:54646887G>A	ENST00000406403.1	+	2	1661	c.58G>A	c.(58-60)Gag>Aag	p.E20K	CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	20					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.E20K(6)		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)					GAAGGTGTCCGAGGGCGTGGA	0.557																																						uc002qdj.1		NaN																	6	Substitution - Missense(6)	p.E20K(1)	prostate(4)|urinary_tract(1)|haematopoietic_and_lymphoid_tissue(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(58-60)GAG>AAG		CCR4-NOT transcription complex, subunit 3							171.0	172.0	171.0					19																	54646887		2203	4300	6503	SO:0001583	missense	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.chr19:54646887G>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.58G>A	19.37:g.54646887G>A	ENSP00000383954:p.Glu20Lys					CNOT3_uc010yel.1_Missense_Mutation_p.E20K|CNOT3_uc002qdi.2_5'UTR|CNOT3_uc002qdk.1_Missense_Mutation_p.E20K|CNOT3_uc010ere.1_5'Flank	p.E20K	NM_014516	NP_055331	O75175	CNOT3_HUMAN			3	369	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		20					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.58G>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507003	0.96386	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.72725	-0.68;-0.68	5.04	5.04	0.67666	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85788	0.5778	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.993	D	0.88178	0.2869	10	0.87932	D	0	-31.302	17.5375	0.87837	0.0:0.0:1.0:0.0	.	20;20	B7Z6J7;O75175	.;CNOT3_HUMAN	K	20	ENSP00000221232:E20K;ENSP00000383954:E20K	ENSP00000221232:E20K	E	+	1	0	CNOT3	59338699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.832000	0.92079	2.512000	0.84698	0.655000	0.94253	GAG		0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3		NM_014516		32	239	0	0	0	0.005524	0	32	239		
LILRB3	11025	broad.mit.edu	37	19	54724400	54724400	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:54724400G>A	ENST00000391750.1	-	7	1392	c.1256C>T	c.(1255-1257)tCa>tTa	p.S419L	LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000407860.2_Missense_Mutation_p.S419L|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000440558.2_Missense_Mutation_p.S419L|LILRB3_ENST00000346401.6_Missense_Mutation_p.S419L|LILRA6_ENST00000270464.5_Missense_Mutation_p.S419L|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000245620.9_Missense_Mutation_p.S419L|LILRB3_ENST00000424807.1_Missense_Mutation_p.S419L			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	419	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S419L(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCCTCACCTGAGACCACGAG	0.667																																						uc002qef.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(1255-1257)TCA>TTA		leukocyte immunoglobulin-like receptor,							21.0	11.0	15.0					19																	54724400		2052	2848	4900	SO:0001583	missense	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54724400G>A	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1256C>T	19.37:g.54724400G>A	ENSP00000375630:p.Ser419Leu					LILRB3_uc002qee.1_Missense_Mutation_p.S419L|LILRB3_uc002qeh.1_Missense_Mutation_p.S419L|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.S419L|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Missense_Mutation_p.S419L|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Missense_Mutation_p.S419L|LILRB3_uc002qep.1_Missense_Mutation_p.S419L|LILRB3_uc002qeq.1_Missense_Mutation_p.S419L|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.S419L|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron	p.S419L	NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1367	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		419			Extracellular (Potential).|Ig-like C2-type 4.		C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	c.1256C>T	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.498943	0.44455	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464	T;T;T;T;T;T;T	0.00784	5.7;5.7;5.7;5.7;5.7;5.7;5.7	2.88	2.88	0.33553	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.848698	0.09631	N	0.776219	T	0.04137	0.0115	M	0.82923	2.615	0.80722	D	1	P;P;P;D;D;D	0.76494	0.729;0.914;0.928;0.994;0.999;0.999	P;P;P;D;D;D	0.66602	0.488;0.868;0.614;0.909;0.945;0.945	T	0.36065	-0.9763	10	0.87932	D	0	.	9.4955	0.38986	0.0:0.0:1.0:0.0	.	419;419;419;419;419;419	B5MCX0;F8WCY4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;LIRB3_HUMAN;.	L	419	ENSP00000375630:S419L;ENSP00000412771:S419L;ENSP00000345184:S419L;ENSP00000245620:S419L;ENSP00000384274:S419L;ENSP00000390120:S419L;ENSP00000270464:S419L	ENSP00000270464:S419L	S	-	2	0	LILRB3;LILRA6	59416212	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	3.432000	0.52824	1.928000	0.55862	0.485000	0.47835	TCA		0.667	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5		NM_006864		10	33	0	0	0	0.010729	0	10	33		
LILRA6	79168	broad.mit.edu	37	19	54746131	54746131	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:54746131C>T	ENST00000396365.2	-	3	165	c.126G>A	c.(124-126)ggG>ggA	p.G42G	LILRA6_ENST00000419410.2_Silent_p.G42G|LILRB3_ENST00000407860.2_Silent_p.G42G|LILRA6_ENST00000391735.3_Silent_p.G42G|LILRA6_ENST00000440558.2_Silent_p.G42G|LILRA6_ENST00000270464.5_Silent_p.G42G|LILRA6_ENST00000245621.5_Silent_p.G42G	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	42					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.G42G(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACGGGGCTCCCCCAGCTGA	0.602																																						uc010erh.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(2)|ovary(1)	3						c.(124-126)GGG>GGA		leukocyte immunoglobulin-like receptor,							98.0	104.0	102.0					19																	54746131		2203	4300	6503	SO:0001819	synonymous_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54746131C>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.126G>A	19.37:g.54746131C>T						LILRA6_uc002qew.1_Silent_p.G42G|LILRB3_uc002qeh.1_Silent_p.G42G|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.G42G|LILRA6_uc002qek.1_Silent_p.G42G|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.G42G|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.G42G|LILRB3_uc002qep.1_Silent_p.G42G|LILRB3_uc002qeq.1_Silent_p.G42G|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.G42G|LILRA6_uc010yep.1_Silent_p.G42G|LILRA6_uc010yeq.1_Silent_p.G42G|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Silent_p.G42G|LILRA6_uc002qev.1_5'Flank	p.G42G	NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	250	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		42			Extracellular (Potential).|Ig-like C2-type 1.			Silent	SNP	ENST00000396365.2	37	c.126G>A	CCDS42610.1																																																																																				0.602	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1		NM_024318		27	169	0	0	0	0.005443	0	27	169		
PPP1R12C	54776	broad.mit.edu	37	19	55610164	55610164	+	Silent	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:55610164C>A	ENST00000263433.3	-	6	954	c.939G>T	c.(937-939)cgG>cgT	p.R313R	PPP1R12C_ENST00000435544.2_Silent_p.R239R|PPP1R12C_ENST00000376393.2_Silent_p.R313R	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C									p.R313R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTCCTGTTTCCGGGCCAGTT	0.637																																						uc002qix.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(937-939)CGG>CGT		protein phosphatase 1, regulatory subunit 12C							96.0	78.0	84.0					19																	55610164		2203	4300	6503	SO:0001819	synonymous_variant	54776					cytoplasm		g.chr19:55610164C>A	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.939G>T	19.37:g.55610164C>A						PPP1R12C_uc010yfs.1_Silent_p.R239R|PPP1R12C_uc002qiy.2_Silent_p.R313R	p.R313R	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	6	955	-			313			Potential.			Silent	SNP	ENST00000263433.3	37	c.939G>T	CCDS12916.1																																																																																				0.637	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2		NM_017607		22	86	1	0	4.4004e-07	0.00333	4.48252e-07	22	86		
SYT5	6861	broad.mit.edu	37	19	55689630	55689630	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:55689630C>T	ENST00000354308.3	-	3	555	c.186G>A	c.(184-186)aaG>aaA	p.K62K	SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Silent_p.K62K|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	62					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.K62K(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGGCCTGGCTCTTCTTGCCTG	0.632																																						uc002qjm.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(184-186)AAG>AAA		synaptotagmin V							29.0	25.0	26.0					19																	55689630		2202	4300	6502	SO:0001819	synonymous_variant	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55689630C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.186G>A	19.37:g.55689630C>T						SYT5_uc002qjp.2_Intron|SYT5_uc002qjn.1_Silent_p.K62K|SYT5_uc002qjo.1_Silent_p.K62K	p.K62K	NM_003180	NP_003171	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	2	1246	-			62			Cytoplasmic (Potential).		B3KWJ8|B7Z300|Q86X72	Silent	SNP	ENST00000354308.3	37	c.186G>A	CCDS12919.1																																																																																				0.632	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1		NM_003180		3	12	0	0	0	0.000602	0	3	12		
ZNF17	7565	broad.mit.edu	37	19	57932476	57932476	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:57932476C>G	ENST00000601808.1	+	3	1829	c.1616C>G	c.(1615-1617)tCa>tGa	p.S539*	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Nonsense_Mutation_p.S541*	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	539					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.S539*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGGCACAACTCAAATCATATT	0.423																																					Melanoma(149;1637 1853 29914 42869 44988)	uc002qoo.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1615-1617)TCA>TGA		zinc finger protein 17							65.0	69.0	67.0					19																	57932476		2171	4287	6458	SO:0001587	stop_gained	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57932476C>G	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1616C>G	19.37:g.57932476C>G	ENSP00000471905:p.Ser539*					ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Nonsense_Mutation_p.S541*	p.S539*	NM_006959	NP_008890	P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	3	1847	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	539			C2H2-type 13.		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Nonsense_Mutation	SNP	ENST00000601808.1	37	c.1616C>G	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	C	38	6.764837	0.97821	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.3	-0.246	0.13022	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.8492	0.24005	0.1991:0.6074:0.1935:0.0	.	.	.	.	X	539	.	ENSP00000302455:S539X	S	+	2	0	ZNF17	62624288	0.000000	0.05858	0.000000	0.03702	0.860000	0.49131	-0.761000	0.04751	-0.115000	0.11915	0.467000	0.42956	TCA		0.423	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1		NM_006959		26	96	0	0	0	0.00333	0	26	96		
ZNF324	25799	broad.mit.edu	37	19	58982927	58982927	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:58982927C>G	ENST00000536459.2	+	4	1777	c.1068C>G	c.(1066-1068)ctC>ctG	p.L356L	ZNF324_ENST00000535298.1_Silent_p.L133L|ZNF324_ENST00000196482.3_Silent_p.L356L|ZNF446_ENST00000596341.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	356					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.L356L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCTCCAACCTCAGCCAGCACC	0.662																																						uc002qsw.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1066-1068)CTC>CTG		zinc finger protein 324							7.0	8.0	8.0					19																	58982927		2146	4189	6335	SO:0001819	synonymous_variant	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982927C>G	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1068C>G	19.37:g.58982927C>G						ZNF324_uc002qsx.1_Silent_p.L133L	p.L356L	NM_014347	NP_055162	O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1162	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	356			C2H2-type 4.		B3KRX1	Silent	SNP	ENST00000536459.2	37	c.1068C>G	CCDS12981.1																																																																																				0.662	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1		NM_014347		4	14	0	0	0	0.001984	0	4	14		
MYT1L	23040	broad.mit.edu	37	2	1914091	1914091	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:1914091C>G	ENST00000399161.2	-	13	2485	c.1738G>C	c.(1738-1740)Gag>Cag	p.E580Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.E578Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	580					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E580Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCCAGTTTCTCTGCTGCAGCG	0.592																																						uc002qxe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|central_nervous_system(1)	6						c.(1738-1740)GAG>CAG		myelin transcription factor 1-like							60.0	69.0	66.0					2																	1914091		2067	4205	6272	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1914091C>G	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1738G>C	2.37:g.1914091C>G	ENSP00000382114:p.Glu580Gln					MYT1L_uc002qxd.2_Missense_Mutation_p.E578Q|MYT1L_uc010ewl.1_RNA	p.E580Q	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	13	2565	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	580					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1738G>C		.	.	.	.	.	.	.	.	.	.	C	32	5.150479	0.94645	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.52295	0.67;0.67	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.66147	0.2760	M	0.65975	2.015	0.80722	D	1	D;P	0.71674	0.998;0.941	P;P	0.62089	0.898;0.796	T	0.65639	-0.6119	10	0.48119	T	0.1	-36.6176	19.1056	0.93293	0.0:1.0:0.0:0.0	.	580;578	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Q	580;526;578	ENSP00000382114:E580Q;ENSP00000396103:E578Q	ENSP00000295067:E526Q	E	-	1	0	MYT1L	1893098	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.511000	0.81718	2.600000	0.87896	0.655000	0.94253	GAG		0.592	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1		NM_015025		5	65	0	0	0	0.001168	0	5	65		
TP53I3	9540	broad.mit.edu	37	2	24300523	24300523	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:24300523C>T	ENST00000238721.4	-	5	1779	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	SF3B14_ENST00000233468.4_5'Flank|TP53I3_ENST00000313482.4_Missense_Mutation_p.R243Q|TP53I3_ENST00000407482.1_Missense_Mutation_p.R243Q|TP53I3_ENST00000417886.1_5'Flank|TP53I3_ENST00000335934.4_Missense_Mutation_p.E309K|FAM228B_ENST00000461972.1_Intron	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	309					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.E309K(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGGATTTCGGTCACTGGG	0.562																																						uc002rey.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(925-927)GAA>AAA		tumor protein p53 inducible protein 3							99.0	80.0	87.0					2																	24300523		2203	4300	6503	SO:0001583	missense	9540				induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding	g.chr2:24300523C>T	AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.925G>A	2.37:g.24300523C>T	ENSP00000238721:p.Glu309Lys					LOC375190_uc002rew.2_Intron|SF3B14_uc002rev.2_5'Flank|SF3B14_uc010eyb.2_5'Flank|TP53I3_uc002rex.1_Missense_Mutation_p.R243Q|TP53I3_uc002rez.1_Missense_Mutation_p.E309K|TP53I3_uc010ykk.1_Missense_Mutation_p.E220K	p.E309K	NM_147184	NP_671713	Q53FA7	QORX_HUMAN			6	985	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		309					D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Missense_Mutation	SNP	ENST00000238721.4	37	c.925G>A	CCDS1708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.058408|4.058408	0.76074|0.76074	.|.	.|.	ENSG00000115129|ENSG00000115129	ENST00000335934;ENST00000238721|ENST00000313482;ENST00000407482	T;T|T;T	0.19806|0.13901	2.12;2.12|2.55;2.55	5.07|5.07	0.862|0.862	0.19056|0.19056	.|.	0.517985|.	0.21325|.	N|.	0.076396|.	T|T	0.08846|0.08846	0.0219|0.0219	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|B	0.32071|0.10296	0.355;0.012|0.003	B;B|B	0.18263|0.08055	0.021;0.002|0.003	T|T	0.32851|0.32851	-0.9891|-0.9891	9|8	0.44086|0.66056	T|D	0.13|0.02	-7.6392|-7.6392	2.9298|2.9298	0.05795|0.05795	0.1302:0.4692:0.2427:0.1579|0.1302:0.4692:0.2427:0.1579	.|.	220;309|243	B4DMQ7;Q53FA7|Q53FA7-2	.;QORX_HUMAN|.	K|Q	309|243	ENSP00000337834:E309K;ENSP00000238721:E309K|ENSP00000322298:R243Q;ENSP00000384414:R243Q	ENSP00000238721:E309K|ENSP00000322298:R243Q	E|R	-|-	1|2	0|0	TP53I3|TP53I3	24154027|24154027	0.012000|0.012000	0.17670|0.17670	0.003000|0.003000	0.11579|0.11579	0.989000|0.989000	0.77384|0.77384	0.413000|0.413000	0.21148|0.21148	0.601000|0.601000	0.29879|0.29879	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.562	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2		NM_004881		61	90	0	0	0	0.01441	0	61	90		
ASXL2	55252	broad.mit.edu	37	2	25976464	25976464	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:25976464C>G	ENST00000435504.4	-	11	1374	c.1081G>C	c.(1081-1083)Gag>Cag	p.E361Q	ASXL2_ENST00000404843.1_Missense_Mutation_p.E101Q|ASXL2_ENST00000272341.4_Missense_Mutation_p.E101Q|ASXL2_ENST00000336112.4_Missense_Mutation_p.E333Q			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	361					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.E101Q(1)|p.E361Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCCTTCTCAATCTCTTGT	0.363																																						uc002rgs.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	pancreas(1)	1						c.(1081-1083)GAG>CAG		additional sex combs like 2							211.0	206.0	208.0					2																	25976464		1833	4095	5928	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25976464C>G			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1081G>C	2.37:g.25976464C>G	ENSP00000391447:p.Glu361Gln					ASXL2_uc002rgt.1_Missense_Mutation_p.E101Q	p.E361Q	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			10	1302	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		361					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.1081G>C		.	.	.	.	.	.	.	.	.	.	C	23.0	4.368654	0.82463	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.35973	1.29;1.28;1.5;1.5	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.58935	0.2157	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.58457	-0.7633	10	0.66056	D	0.02	-14.2433	18.441	0.90666	0.0:1.0:0.0:0.0	.	101;361	Q76L83-2;Q76L83	.;ASXL2_HUMAN	Q	361;333;101;101	ENSP00000391447:E361Q;ENSP00000337250:E333Q;ENSP00000383920:E101Q;ENSP00000272341:E101Q	ENSP00000272341:E101Q	E	-	1	0	ASXL2	25829968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.758000	0.85224	2.714000	0.92807	0.643000	0.83706	GAG		0.363	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3		NM_018263		54	240	0	0	0	0.01441	0	54	240		
C2orf16	84226	broad.mit.edu	37	2	27801442	27801442	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:27801442C>T	ENST00000408964.2	+	1	2054	c.2003C>T	c.(2002-2004)tCt>tTt	p.S668F		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	668						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.S668F(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCGCAAACATCTCCATTTGAG	0.408																																						uc002rkz.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(1)	1						c.(2002-2004)TCT>TTT		hypothetical protein LOC84226							95.0	92.0	93.0					2																	27801442		1886	4114	6000	SO:0001583	missense	84226							g.chr2:27801442C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2003C>T	2.37:g.27801442C>T	ENSP00000386190:p.Ser668Phe						p.S668F	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	2054	+	Acute lymphoblastic leukemia(172;0.155)		668					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.2003C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	8.896	0.955248	0.18507	.	.	ENSG00000221843	ENST00000408964	T	0.06218	3.33	4.27	0.442	0.16582	.	.	.	.	.	T	0.03651	0.0104	N	0.14661	0.345	0.19300	N	0.999975	B	0.23891	0.093	B	0.19666	0.026	T	0.41945	-0.9480	9	0.62326	D	0.03	.	3.9781	0.09483	0.0:0.5242:0.177:0.2989	.	668	Q68DN1	CB016_HUMAN	F	668	ENSP00000386190:S668F	ENSP00000386190:S668F	S	+	2	0	C2orf16	27654946	0.000000	0.05858	0.185000	0.23176	0.052000	0.14988	-0.327000	0.07955	0.064000	0.16427	-0.291000	0.09656	TCT		0.408	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1		NM_032266		72	103	0	0	0	0.01441	0	72	103		
FOSL2	2355	broad.mit.edu	37	2	28616622	28616622	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:28616622C>G	ENST00000264716.4	+	1	898	c.35C>G	c.(34-36)tCg>tGg	p.S12W	FOSL2_ENST00000460736.1_Intron|FOSL2_ENST00000379619.1_Intron|AC104695.3_ENST00000445878.1_RNA|FOSL2_ENST00000545753.1_5'Flank|AC104695.3_ENST00000427929.1_RNA	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	12					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S12W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TTTGACACCTCGTCCCGGGGC	0.716																																						uc002rma.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(34-36)TCG>TGG		FOS-like antigen 2							16.0	16.0	16.0					2																	28616622		2202	4299	6501	SO:0001583	missense	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28616622C>G		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.35C>G	2.37:g.28616622C>G	ENSP00000264716:p.Ser12Trp					uc002rlz.1_Intron|FOSL2_uc010ymi.1_5'Flank	p.S12W	NM_005253	NP_005244	P15408	FOSL2_HUMAN			1	844	+	Acute lymphoblastic leukemia(172;0.155)		12					B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.35C>G	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502726	0.85176	.	.	ENSG00000075426	ENST00000264716	T	0.68331	-0.32	4.8	4.8	0.61643	.	0.155451	0.45361	D	0.000370	D	0.82577	0.5067	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85678	0.1299	10	0.87932	D	0	-13.9756	16.6134	0.84900	0.0:1.0:0.0:0.0	.	12	P15408	FOSL2_HUMAN	W	12	ENSP00000264716:S12W	ENSP00000264716:S12W	S	+	2	0	FOSL2	28470126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.809000	0.62591	2.198000	0.70561	0.448000	0.29417	TCG		0.716	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2		NM_005253		7	9	0	0	0	0.00308	0	7	9		
GPATCH11	253635	broad.mit.edu	37	2	37319356	37319356	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:37319356C>G	ENST00000608836.1	+	6	631	c.486C>G	c.(484-486)ctC>ctG	p.L162L	GPATCH11_ENST00000281932.5_Silent_p.L59L|GPATCH11_ENST00000409774.1_Silent_p.L188L	NM_174931.2	NP_777591.3	Q8N954	GPT11_HUMAN	G patch domain containing 11	162							nucleic acid binding (GO:0003676)	p.L59L(1)|p.L162L(1)									AAGGAGATCTCAGAAGAAGCC	0.378																																						uc010ezz.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(484-486)CTC>CTG		coiled-coil domain containing 75							37.0	39.0	38.0					2																	37319356		2203	4300	6503	SO:0001819	synonymous_variant	253635					intracellular	nucleic acid binding	g.chr2:37319356C>G	AK095667	CCDS1785.2, CCDS62891.1, CCDS1785.3	2p22.2	2013-11-05	2013-01-28	2013-01-28	ENSG00000152133	ENSG00000152133		"""G patch domain containing"""	26768	protein-coding gene	gene with protein product	"""centromere protein Y"""		"""coiled-coil domain containing 75"""	CCDC75			Standard	NM_001278505		Approved	FLJ38348, CENPY, CENP-Y	uc010ezz.3	Q8N954	OTTHUMG00000128469	ENST00000608836.1:c.486C>G	2.37:g.37319356C>G						CCDC75_uc002rpr.3_Silent_p.L59L	p.L162L	NM_174931	NP_777591	Q8N954	CCD75_HUMAN			6	631	+		all_hematologic(82;0.21)	162					A8K0D9|B7Z2G4|B8ZZ44	Silent	SNP	ENST00000608836.1	37	c.486C>G	CCDS1785.2																																																																																				0.378	GPATCH11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_174931		3	11	0	0	0	0.004672	0	3	11		
SOS1	6654	broad.mit.edu	37	2	39213087	39213087	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:39213087G>C	ENST00000426016.1	-	24	3966	c.3880C>G	c.(3880-3882)Cca>Gca	p.P1294A	SOS1_ENST00000395038.2_Missense_Mutation_p.P1279A|SOS1_ENST00000402219.2_Missense_Mutation_p.P1294A			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1294					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1294A(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CTTTGTCGTGGAGGAACAGGC	0.502									Noonan syndrome																													uc002rrk.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(3880-3882)CCA>GCA		son of sevenless homolog 1							275.0	247.0	256.0					2																	39213087		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39213087G>C	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3880C>G	2.37:g.39213087G>C	ENSP00000387784:p.Pro1294Ala					SOS1_uc002rrj.3_Missense_Mutation_p.P893A	p.P1294A	NM_005633	NP_005624	Q07889	SOS1_HUMAN			23	3921	-		all_hematologic(82;0.21)	1294					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.3880C>G	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425686	0.62733	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	D;D;D	0.82433	-1.61;-1.61;-1.57	5.16	5.16	0.70880	.	0.123729	0.56097	D	0.000036	D	0.89473	0.6725	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.90031	0.4135	10	0.72032	D	0.01	.	18.8284	0.92127	0.0:0.0:1.0:0.0	.	1294	Q07889	SOS1_HUMAN	A	1294;1294;1011;1279	ENSP00000387784:P1294A;ENSP00000384675:P1294A;ENSP00000378479:P1279A	ENSP00000378479:P1279A	P	-	1	0	SOS1	39066591	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.478000	0.90428	2.677000	0.91161	0.563000	0.77884	CCA		0.502	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3		NM_005633		94	204	0	0	0	0.01441	0	94	204		
ALMS1	7840	broad.mit.edu	37	2	73677000	73677000	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:73677000C>G	ENST00000264448.6	+	8	3454	c.3343C>G	c.(3343-3345)Ctg>Gtg	p.L1115V	ALMS1_ENST00000377715.1_Missense_Mutation_p.L1115V|ALMS1_ENST00000409009.1_Missense_Mutation_p.L1073V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1115	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.L1115V(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGAGAGTCATCTGCCTAAAGA	0.468																																						uc002sje.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(3349-3351)CTG>GTG		Alstrom syndrome 1							116.0	116.0	116.0					2																	73677000		1853	4110	5963	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677000C>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3343C>G	2.37:g.73677000C>G	ENSP00000264448:p.Leu1115Val					ALMS1_uc002sjf.1_Missense_Mutation_p.L1073V|ALMS1_uc002sjg.2_Missense_Mutation_p.L503V|ALMS1_uc002sjh.1_Missense_Mutation_p.L503V	p.L1117V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	3460	+			1115			34 X 47 AA approximate tandem repeat.|13.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.3349C>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	9.682	1.149613	0.21288	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.19532	3.01;3.01;2.14	4.6	-0.454	0.12197	.	1.335860	0.05496	N	0.557561	T	0.33352	0.0860	L	0.54323	1.7	0.09310	N	1	D;D;D	0.76494	0.999;0.976;0.99	D;P;P	0.69142	0.962;0.693;0.815	T	0.33266	-0.9875	10	0.18276	T	0.48	.	4.241	0.10648	0.4634:0.3615:0.0:0.1752	.	1115;1073;1115	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	1073;1115;1115	ENSP00000386627:L1073V;ENSP00000264448:L1115V;ENSP00000366944:L1115V	ENSP00000264448:L1115V	L	+	1	2	ALMS1	73530508	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.424000	0.07025	-0.090000	0.12462	0.591000	0.81541	CTG		0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120		81	231	0	0	0	0.01441	0	81	231		
MOGS	7841	broad.mit.edu	37	2	74689052	74689052	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:74689052C>T	ENST00000233616.4	-	4	2026	c.1864G>A	c.(1864-1866)Gag>Aag	p.E622K	MOGS_ENST00000452063.2_Missense_Mutation_p.E516K|MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	622					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)	p.E622K(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GCAGCTACCTCAGCCTCACCC	0.632																																						uc010ffj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1864-1866)GAG>AAG		mannosyl-oligosaccharide glucosidase isoform 1							37.0	44.0	41.0					2																	74689052		2118	4240	6358	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689052C>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1864G>A	2.37:g.74689052C>T	ENSP00000233616:p.Glu622Lys					MOGS_uc010ffh.2_Missense_Mutation_p.E347K|MOGS_uc010yrt.1_Missense_Mutation_p.E503K|MOGS_uc010ffi.2_Missense_Mutation_p.E516K	p.E622K	NM_006302	NP_006293	Q13724	MOGS_HUMAN			4	2027	-			622			Lumenal (Potential).		A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.1864G>A	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	C	6.626	0.483975	0.12581	.	.	ENSG00000115275	ENST00000233616;ENST00000452063	T;T	0.46819	0.86;0.86	5.03	3.16	0.36331	Six-hairpin glycosidase-like (1);	0.053034	0.64402	D	0.000001	T	0.35941	0.0949	L	0.41710	1.295	0.54753	D	0.999983	B	0.06786	0.001	B	0.12156	0.007	T	0.20638	-1.0269	10	0.41790	T	0.15	-12.3825	8.7114	0.34387	0.0:0.7434:0.1647:0.0919	.	622	Q13724	MOGS_HUMAN	K	622;516	ENSP00000233616:E622K;ENSP00000388201:E516K	ENSP00000233616:E622K	E	-	1	0	MOGS	74542560	0.831000	0.29352	0.951000	0.38953	0.888000	0.51559	1.209000	0.32357	1.357000	0.45904	0.563000	0.77884	GAG		0.632	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1		NM_006302		13	53	0	0	0	0.006122	0	13	53		
MRPL53	116540	broad.mit.edu	37	2	74699247	74699247	+	Nonstop_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:74699247C>A	ENST00000258105.7	-	3	999	c.338G>T	c.(337-339)tGa>tTa	p.*113L	MRPL53_ENST00000409710.1_3'UTR	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	0						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.*113L(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						TTGGCGCTGTCAGCGACCAGT	0.547																																						uc002sln.2		NaN																	1	Nonstop extension(1)		urinary_tract(1)		0						c.(337-339)TGA>TTA		mitochondrial ribosomal protein L53 precursor							46.0	52.0	50.0					2																	74699247		2195	4299	6494	SO:0001578	stop_lost	116540					mitochondrion|ribosome		g.chr2:74699247C>A	BC012163	CCDS1944.1	2p13.1	2012-09-13			ENSG00000204822	ENSG00000204822		"""Mitochondrial ribosomal proteins / large subunits"""	16684	protein-coding gene	gene with protein product		611857				11551941	Standard	NM_053050		Approved		uc002sln.3	Q96EL3	OTTHUMG00000129961	ENST00000258105.7:c.338G>T	2.37:g.74699247C>A						CCDC142_uc002slo.2_RNA	p.*113L	NM_053050	NP_444278	Q96EL3	RM53_HUMAN			3	478	-			113						Nonstop_Mutation	SNP	ENST00000258105.7	37	c.338G>T	CCDS1944.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.691875	0.30052	.	.	ENSG00000204822	ENST00000258105	.	.	.	4.13	3.25	0.37280	.	.	.	.	.	.	.	.	.	.	.	0.24457	N	0.994452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.058	0.30617	0.0:0.8902:0.0:0.1098	.	.	.	.	L	113	.	.	X	-	2	2	MRPL53	74552755	0.890000	0.30428	0.031000	0.17742	0.038000	0.13279	0.460000	0.21924	1.327000	0.45338	0.643000	0.83706	TGA		0.547	MRPL53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252225.2		NM_053050		26	84	1	0	2.44723e-14	0.004656	2.52899e-14	26	84		
HK2	3099	broad.mit.edu	37	2	75061718	75061718	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:75061718C>G	ENST00000290573.2	+	1	611	c.11C>G	c.(10-12)tCg>tGg	p.S4W	HK2_ENST00000409174.1_5'Flank|RP11-259N19.1_ENST00000610008.1_lincRNA	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	4	Hydrophobic.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.S4L(1)|p.S4W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ATGATTGCCTCGCATCTGCTT	0.662																																						uc002snd.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(1)|lung(1)	2						c.(10-12)TCG>TGG		hexokinase 2							61.0	57.0	58.0					2																	75061718		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75061718C>G		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.11C>G	2.37:g.75061718C>G	ENSP00000290573:p.Ser4Trp						p.S4W	NM_000189	NP_000180	P52789	HXK2_HUMAN			1	1937	+			4			Hydrophobic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.11C>G	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436492	0.83885	.	.	ENSG00000159399	ENST00000290573;ENST00000535740	D	0.97665	-4.48	3.97	3.97	0.46021	.	0.263111	0.32106	N	0.006565	D	0.93468	0.7916	N	0.14661	0.345	0.58432	D	0.999998	D	0.59357	0.985	P	0.47864	0.559	D	0.93920	0.7205	10	0.87932	D	0	-4.6526	11.3902	0.49809	0.0:1.0:0.0:0.0	.	4	P52789	HXK2_HUMAN	W	4	ENSP00000290573:S4W	ENSP00000290573:S4W	S	+	2	0	HK2	74915226	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.687000	0.54692	2.026000	0.59711	0.643000	0.83706	TCG		0.662	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2		NM_000189		16	50	0	0	0	0.006122	0	16	50		
PROM2	150696	broad.mit.edu	37	2	95941808	95941808	+	Missense_Mutation	SNP	C	C	A	rs147971761		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:95941808C>A	ENST00000317620.9	+	3	558	c.425C>A	c.(424-426)aCa>aAa	p.T142K	PROM2_ENST00000317668.4_Missense_Mutation_p.T142K|PROM2_ENST00000403131.2_Missense_Mutation_p.T142K|PROM2_ENST00000542147.1_Missense_Mutation_p.T142K|PROM2_ENST00000463580.1_Intron	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	142					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.T142K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CGAGTGAAGACAGAGCACAAG	0.687																																						uc002suh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(424-426)ACA>AAA		prominin 2 precursor							35.0	46.0	42.0					2																	95941808		2201	4299	6500	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95941808C>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.425C>A	2.37:g.95941808C>A	ENSP00000318270:p.Thr142Lys					PROM2_uc002sui.2_Missense_Mutation_p.T142K|PROM2_uc002suj.2_5'UTR|PROM2_uc002suk.2_Missense_Mutation_p.T142K|PROM2_uc002sul.2_5'UTR	p.T142K	NM_144707	NP_653308	Q8N271	PROM2_HUMAN			3	558	+			142			Cytoplasmic (Potential).		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.425C>A	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	0.476	-0.882340	0.02530	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	4.94	2.01	0.26516	.	0.399810	0.23702	N	0.045401	T	0.28532	0.0706	L	0.50919	1.6	0.33764	D	0.622211	B	0.22146	0.065	B	0.21917	0.037	T	0.35871	-0.9771	10	0.02654	T	1	-5.2742	7.4956	0.27487	0.0:0.6974:0.0:0.3026	.	142	Q8N271	PROM2_HUMAN	K	142	ENSP00000385716:T142K;ENSP00000318520:T142K;ENSP00000318270:T142K;ENSP00000442542:T142K	ENSP00000318270:T142K	T	+	2	0	PROM2	95305535	0.007000	0.16637	0.989000	0.46669	0.208000	0.24298	-0.101000	0.10973	0.448000	0.26722	0.462000	0.41574	ACA		0.687	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1		NM_144707		9	39	1	0	0.000442599	0.006214	0.000447421	9	39		
SNRNP200	23020	broad.mit.edu	37	2	96952861	96952861	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:96952861G>A	ENST00000323853.5	-	27	3599	c.3522C>T	c.(3520-3522)atC>atT	p.I1174I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1174	SEC63 1.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.I1174I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CATATTTGTGGATGGTCTTCC	0.537																																						uc002svu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|skin(4)|large_intestine(1)	10						c.(3520-3522)ATC>ATT		activating signal cointegrator 1 complex subunit							158.0	148.0	151.0					2																	96952861		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96952861G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.3522C>T	2.37:g.96952861G>A						SNRNP200_uc002svt.2_5'Flank|SNRNP200_uc010yuj.1_5'Flank|SNRNP200_uc002svv.1_5'Flank|SNRNP200_uc002svw.1_Silent_p.I246I	p.I1174I	NM_014014	NP_054733	O75643	U520_HUMAN			27	3608	-			1174			SEC63 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.3522C>T	CCDS2020.1																																																																																				0.537	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2		NM_014014		58	149	0	0	0	0.01441	0	58	149		
CNNM3	26505	broad.mit.edu	37	2	97494773	97494773	+	Missense_Mutation	SNP	G	G	A	rs149301704		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:97494773G>A	ENST00000305510.3	+	7	1989	c.1961G>A	c.(1960-1962)cGa>cAa	p.R654Q	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.R606Q|CNNM3_ENST00000480035.1_3'UTR	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	654					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.R654Q(1)		NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CTGGCTACCCGAGCCCAGAAC	0.587																																						uc002swy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1960-1962)CGA>CAA		cyclin M3 isoform 1							83.0	80.0	81.0					2																	97494773		2203	4300	6503	SO:0001583	missense	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97494773G>A	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1961G>A	2.37:g.97494773G>A	ENSP00000305449:p.Arg654Gln					CNNM3_uc002swz.2_Missense_Mutation_p.R606Q	p.R654Q	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN			7	1985	+			654					B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	c.1961G>A	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844486	0.91197	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	D;D	0.92348	-2.79;-3.02	5.56	4.68	0.58851	.	0.079666	0.51477	D	0.000100	D	0.91260	0.7245	M	0.67625	2.065	0.80722	D	1	P;P	0.52463	0.879;0.953	P;P	0.47744	0.454;0.556	D	0.88981	0.3408	10	0.31617	T	0.26	-0.2886	9.7776	0.40630	0.1599:0.0:0.8401:0.0	.	606;654	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	Q	606;606;654	ENSP00000366260:R606Q;ENSP00000305449:R654Q	ENSP00000305449:R654Q	R	+	2	0	CNNM3	96858500	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	4.857000	0.62939	1.341000	0.45600	0.655000	0.94253	CGA		0.587	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2		NM_017623		25	38	0	0	0	0.00333	0	25	38		
EIF5B	9669	broad.mit.edu	37	2	100011209	100011209	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:100011209G>C	ENST00000289371.6	+	21	3319	c.3117G>C	c.(3115-3117)gtG>gtC	p.V1039V		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1039					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.V1039V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTTCGATGTGAGAATTGAAC	0.318																																					Colon(162;2388 2567 2705 3444)	uc002tab.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(3115-3117)GTG>GTC		eukaryotic translation initiation factor 5B							153.0	136.0	141.0					2																	100011209		1844	4094	5938	SO:0001819	synonymous_variant	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:100011209G>C	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.3117G>C	2.37:g.100011209G>C						EIF5B_uc010yvq.1_Silent_p.V21V	p.V1039V	NM_015904	NP_056988	O60841	IF2P_HUMAN			21	3301	+			1039					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	ENST00000289371.6	37	c.3117G>C	CCDS42721.1																																																																																				0.318	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2		NM_015904		26	121	0	0	0	0.007291	0	26	121		
IL1RL1	9173	broad.mit.edu	37	2	102956721	102956721	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:102956721G>C	ENST00000233954.1	+	4	707	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	IL1RL1_ENST00000404917.2_Missense_Mutation_p.E29Q|IL1RL1_ENST00000311734.2_Missense_Mutation_p.E146Q|IL1RL1_ENST00000393393.3_Missense_Mutation_p.E146Q|IL1RL1_ENST00000409584.1_Missense_Mutation_p.E146Q	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	146	Ig-like C2-type 2.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.E146Q(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGCACCTCTTGAGTGGTTTAA	0.373																																						uc002tbu.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(436-438)GAG>CAG		interleukin 1 receptor-like 1 isoform 1							59.0	59.0	59.0					2																	102956721		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102956721G>C	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.436G>C	2.37:g.102956721G>C	ENSP00000233954:p.Glu146Gln					IL1RL1_uc010ywa.1_Missense_Mutation_p.E29Q|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.E146Q	p.E146Q	NM_016232	NP_057316	Q01638	ILRL1_HUMAN			4	707	+			146			Ig-like C2-type 2.|Extracellular (Potential).		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.436G>C	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	G	3.172	-0.169857	0.06461	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000404917;ENST00000311734;ENST00000409584	T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91	5.54	-1.55	0.08558	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.009620	0.07931	N	0.977515	T	0.07007	0.0178	N	0.14661	0.345	0.30581	N	0.762481	B;B;B	0.20780	0.009;0.048;0.027	B;B;B	0.26310	0.021;0.019;0.068	T	0.45234	-0.9275	10	0.07482	T	0.82	.	15.1021	0.72288	0.0742:0.7301:0.1957:0.0	.	29;146;146	B4E0I3;Q01638-2;Q01638	.;.;ILRL1_HUMAN	Q	146;146;29;146;146	ENSP00000233954:E146Q;ENSP00000377052:E146Q;ENSP00000384822:E29Q;ENSP00000310371:E146Q;ENSP00000386618:E146Q	ENSP00000233954:E146Q	E	+	1	0	IL1RL1	102323153	0.736000	0.28164	0.552000	0.28243	0.979000	0.70002	0.033000	0.13754	-0.260000	0.09418	-0.300000	0.09419	GAG		0.373	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1		NM_016232		12	62	0	0	0	0.001855	0	12	62		
SLC9A4	389015	broad.mit.edu	37	2	103119999	103119999	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:103119999C>T	ENST00000295269.4	+	3	1270	c.813C>T	c.(811-813)atC>atT	p.I271I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	271					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.I271I(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCCGATTCATCGTTGTGGGGC	0.393																																						uc002tbz.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|central_nervous_system(1)	3						c.(811-813)ATC>ATT		solute carrier family 9 (sodium/hydrogen							325.0	305.0	312.0					2																	103119999		2203	4300	6503	SO:0001819	synonymous_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103119999C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.813C>T	2.37:g.103119999C>T							p.I271I	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			3	1270	+			271			Helical; Name=H/M6; (Potential).		Q69YK0	Silent	SNP	ENST00000295269.4	37	c.813C>T	CCDS33264.1																																																																																				0.393	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1		NM_001011552.3		24	69	0	0	0	0.003954	0	24	69		
GYPC	2995	broad.mit.edu	37	2	127453717	127453717	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:127453717G>A	ENST00000259254.4	+	4	717	c.386G>A	c.(385-387)tGa>tAa	p.*129*	GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000356887.7_Silent_p.*108*|GYPC_ENST00000409836.3_Silent_p.*110*	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	0						cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.*129*(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		TACTTTATTTGAGGGACAACA	0.552																																					Melanoma(110;806 1600 6704 9981 33404)	uc002tnq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(385-387)TGA>TAA		glycophorin C isoform 1							85.0	71.0	76.0					2																	127453717		2203	4300	6503	SO:0001819	synonymous_variant	2995					cortical cytoskeleton|integral to plasma membrane	protein binding	g.chr2:127453717G>A		CCDS2136.1, CCDS46402.1, CCDS58724.1	2q14-q21	2014-07-19			ENSG00000136732	ENSG00000136732		"""CD molecules"", ""Blood group antigens"""	4704	protein-coding gene	gene with protein product		110750					Standard	NM_016815		Approved	GPC, GYPD, Ge, CD236, CD236R	uc002tnq.4	P04921	OTTHUMG00000131464	ENST00000259254.4:c.386G>A	2.37:g.127453717G>A						GYPC_uc002tnr.2_Silent_p.*110*|GYPC_uc010flv.2_RNA	p.*129*	NM_002101	NP_002092	P04921	GLPC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.075)	4	542	+	Colorectal(110;0.0533)		129					B2R522|Q53SV9|Q92642	Silent	SNP	ENST00000259254.4	37	c.386G>A	CCDS2136.1																																																																																				0.552	GYPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254297.1		NM_002101		10	34	0	0	0	0.006214	0	10	34		
GPR17	2840	broad.mit.edu	37	2	128408370	128408370	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:128408370G>C	ENST00000272644.3	+	3	219	c.145G>C	c.(145-147)Gag>Cag	p.E49Q	LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.E49Q|GPR17_ENST00000393018.3_Missense_Mutation_p.E49Q|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409254.1_5'Flank	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	49					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.E49Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		ggccacggcagagcaatgtgg	0.547											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010yzn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(145-147)GAG>CAG		G protein-coupled receptor 17 isoform a							85.0	86.0	85.0					2																	128408370		2203	4300	6503	SO:0001583	missense	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408370G>C		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.145G>C	2.37:g.128408370G>C	ENSP00000272644:p.Glu49Gln		OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1564	LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.E49Q|GPR17_uc010yzo.1_Missense_Mutation_p.E21Q|GPR17_uc002tpd.2_Missense_Mutation_p.E21Q	p.E49Q	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	756	+	Colorectal(110;0.1)	Ovarian(717;0.15)	49			Extracellular (Potential).		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	c.145G>C	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	g	5.221	0.226285	0.09916	.	.	ENSG00000144230	ENST00000544369;ENST00000339805;ENST00000272644;ENST00000423019;ENST00000393018	T;T;T;T	0.67345	-0.26;-0.26;0.14;-0.26	5.17	3.36	0.38483	.	0.121631	0.53938	D	0.000049	T	0.41926	0.1180	N	0.08118	0	0.29631	N	0.845456	B	0.06786	0.001	B	0.06405	0.002	T	0.25606	-1.0127	10	0.14656	T	0.56	.	10.881	0.46937	0.0713:0.1308:0.7979:0.0	.	49	Q13304	GPR17_HUMAN	Q	49;21;49;49;49	ENSP00000442982:E49Q;ENSP00000272644:E49Q;ENSP00000387970:E49Q;ENSP00000376741:E49Q	ENSP00000272644:E49Q	E	+	1	0	GPR17	128124840	1.000000	0.71417	0.053000	0.19242	0.212000	0.24457	4.591000	0.61019	0.671000	0.31185	0.655000	0.94253	GAG		0.547	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1				31	127	0	0	0	0.007291	0	31	127		
NR4A2	4929	broad.mit.edu	37	2	157186256	157186256	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:157186256G>C	ENST00000339562.4	-	3	805	c.443C>G	c.(442-444)tCt>tGt	p.S148C	NR4A2_ENST00000539077.1_Missense_Mutation_p.S159C|NR4A2_ENST00000409108.2_Missense_Mutation_p.S148C|NR4A2_ENST00000429376.1_Missense_Mutation_p.S85C|NR4A2_ENST00000426264.1_Missense_Mutation_p.S85C|NR4A2_ENST00000409572.1_Missense_Mutation_p.S148C	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	148	Pro-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S148C(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GTTGTGGAGAGATCCCGGGTC	0.622																																						uc002tyz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(442-444)TCT>TGT		nuclear receptor subfamily 4, group A, member 2							86.0	99.0	95.0					2																	157186256		2203	4300	6503	SO:0001583	missense	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157186256G>C	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.443C>G	2.37:g.157186256G>C	ENSP00000344479:p.Ser148Cys					NR4A2_uc002tyx.3_Missense_Mutation_p.S85C|NR4A2_uc010zcf.1_Missense_Mutation_p.S148C|NR4A2_uc010zcg.1_5'Flank	p.S148C	NM_006186	NP_006177	P43354	NR4A2_HUMAN			3	865	-			148			Pro-rich.		Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.443C>G	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618748	0.66787	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376;ENST00000424077;ENST00000421709	D;D;D;D;D;D;T;D	0.92545	-2.84;-2.87;-2.84;-2.85;-3.06;-2.96;-1.25;-2.29	6.07	6.07	0.98685	.	2.708240	0.00904	N	0.002381	D	0.94879	0.8345	L	0.40543	1.245	0.58432	D	0.999998	D	0.58620	0.983	P	0.55785	0.784	D	0.83575	0.0114	10	0.52906	T	0.07	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	148	P43354	NR4A2_HUMAN	C	148;85;148;159;148;85;148;85	ENSP00000344479:S148C;ENSP00000389986:S85C;ENSP00000386747:S148C;ENSP00000444925:S159C;ENSP00000386993:S148C;ENSP00000410952:S85C;ENSP00000406808:S148C;ENSP00000388120:S85C	ENSP00000344479:S148C	S	-	2	0	NR4A2	156894502	1.000000	0.71417	0.919000	0.36401	0.955000	0.61496	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	TCT		0.622	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2				51	157	0	0	0	0.01441	0	51	157		
GALNT5	11227	broad.mit.edu	37	2	158115547	158115547	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:158115547C>T	ENST00000259056.4	+	1	1438	c.953C>T	c.(952-954)tCt>tTt	p.S318F		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	318					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S318F(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CTCAATTTCTCTGAAAGCCAT	0.388																																						uc002tzg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|skin(1)	4						c.(952-954)TCT>TTT		N-acetylgalactosaminyltransferase 5							62.0	67.0	65.0					2																	158115547		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158115547C>T	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.953C>T	2.37:g.158115547C>T	ENSP00000259056:p.Ser318Phe					GALNT5_uc010zci.1_RNA	p.S318F	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			1	1208	+			318			Lumenal (Potential).		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.953C>T	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102432	0.76983	.	.	ENSG00000136542	ENST00000259056	T	0.62941	-0.01	5.66	5.66	0.87406	.	4.663350	0.00357	N	0.000028	T	0.75162	0.3812	L	0.36672	1.1	0.35983	D	0.836154	D	0.76494	0.999	D	0.63488	0.915	T	0.60316	-0.7287	10	0.87932	D	0	.	14.3893	0.66968	0.1484:0.8515:0.0:0.0	.	318	Q7Z7M9	GALT5_HUMAN	F	318	ENSP00000259056:S318F	ENSP00000259056:S318F	S	+	2	0	GALNT5	157823793	0.984000	0.35163	1.000000	0.80357	0.870000	0.49936	4.737000	0.62066	2.823000	0.97156	0.655000	0.94253	TCT		0.388	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2		NM_014568		31	93	0	0	0	0.009535	0	31	93		
SLC4A10	57282	broad.mit.edu	37	2	162833271	162833271	+	Splice_Site	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:162833271G>C	ENST00000446997.1	+	25	3322	c.3229G>C	c.(3229-3231)Gat>Cat	p.D1077H	SLC4A10_ENST00000415876.2_Splice_Site_p.D1047H|SLC4A10_ENST00000375514.5_Splice_Site_p.D1058H|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000272716.5_Splice_Site_p.D1047H	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1077					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.D1077H(1)|p.D1047H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CCTGTCTAGAGATGATCCATC	0.348																																						uc002ubx.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(3229-3231)GAT>CAT		solute carrier family 4, sodium bicarbonate							46.0	43.0	44.0					2																	162833271		1830	4079	5909	SO:0001630	splice_region_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162833271G>C		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3228-1G>C	2.37:g.162833271G>C						SLC4A10_uc002uby.3_Missense_Mutation_p.D1047H|SLC4A10_uc010zcs.1_Missense_Mutation_p.D1058H	p.D1077H	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			25	3413	+			1077			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.3229G>C	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817990	0.71028	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000415711	T;T;T;T	0.79141	-1.24;-1.24;-1.23;-1.24	6.03	6.03	0.97812	.	0.472717	0.24172	N	0.040881	T	0.75583	0.3869	L	0.34521	1.04	0.58432	D	0.999997	P;P;P	0.41214	0.742;0.742;0.626	B;B;B	0.43575	0.424;0.424;0.401	T	0.74763	-0.3555	10	0.46703	T	0.11	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1058;1047;1077	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	H	1058;1047;1047;1046;1077;1076	ENSP00000364664:D1058H;ENSP00000395797:D1047H;ENSP00000272716:D1047H;ENSP00000393066:D1077H	ENSP00000272716:D1047H	D	+	1	0	SLC4A10	162541517	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.159000	0.77483	2.861000	0.98227	0.655000	0.94253	GAT		0.348	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1		NM_022058	Missense_Mutation	2	8	0	0	0	0.004672	0	2	8		
SCN3A	6328	broad.mit.edu	37	2	165956815	165956815	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:165956815C>T	ENST00000360093.3	-	22	4454	c.3963G>A	c.(3961-3963)atG>atA	p.M1321I	SCN3A_ENST00000409101.3_Missense_Mutation_p.M1272I|SCN3A_ENST00000283254.7_Missense_Mutation_p.M1321I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1321					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.M1321I(1)|p.M1272I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCTTACCCTCATGCCTTCAA	0.378																																						uc002ucx.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3961-3963)ATG>ATA		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						86.0	88.0	87.0					2																	165956815		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165956815C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3963G>A	2.37:g.165956815C>T	ENSP00000353206:p.Met1321Ile					SCN3A_uc002ucy.2_Missense_Mutation_p.M1272I|SCN3A_uc002ucz.2_Missense_Mutation_p.M1272I|SCN3A_uc002uda.1_Missense_Mutation_p.M1141I|SCN3A_uc002udb.1_Missense_Mutation_p.M1141I	p.M1321I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			22	4455	-			1321					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.3963G>A		.	.	.	.	.	.	.	.	.	.	C	22.9	4.350574	0.82132	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98296	-4.85;-4.85;-4.85;-4.85	5.35	5.35	0.76521	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.89904	3.07	0.80722	D	1	D;B;B;B;P	0.55605	0.972;0.149;0.073;0.073;0.94	D;B;B;B;P	0.66497	0.944;0.06;0.022;0.022;0.45	D	0.99501	1.0953	10	0.87932	D	0	.	19.4318	0.94772	0.0:1.0:0.0:0.0	.	1321;1272;1272;1272;1321	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	I	1321;1321;1272;1272	ENSP00000353206:M1321I;ENSP00000283254:M1321I;ENSP00000386726:M1272I;ENSP00000403348:M1272I	ENSP00000283254:M1321I	M	-	3	0	SCN3A	165665061	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	7.776000	0.85560	2.668000	0.90789	0.591000	0.81541	ATG		0.378	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_006922		35	117	0	0	0	0.004878	0	35	117		
XIRP2	129446	broad.mit.edu	37	2	167992460	167992460	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:167992460G>C	ENST00000409728.1	+	3	539	c.450G>C	c.(448-450)aaG>aaC	p.K150N	XIRP2_ENST00000409195.1_Missense_Mutation_p.K150N|XIRP2_ENST00000409043.1_Missense_Mutation_p.K150N|XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000420519.1_Missense_Mutation_p.K150N|XIRP2_ENST00000409756.2_Missense_Mutation_p.K150N|XIRP2_ENST00000295237.9_Missense_Mutation_p.K150N	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.K150N(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGCTTTTAAGAGTCACCCTG	0.433																																						uc002udx.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(7)|ovary(6)|pancreas(1)	14						c.(448-450)AAG>AAC		xin actin-binding repeat containing 2 isoform 1							77.0	79.0	78.0					2																	167992460		1874	4108	5982	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167992460G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.450G>C	2.37:g.167992460G>C	ENSP00000386619:p.Lys150Asn					XIRP2_uc010fpn.2_Missense_Mutation_p.K150N|XIRP2_uc010fpo.2_Missense_Mutation_p.K150N|XIRP2_uc010fpp.2_Missense_Mutation_p.K150N|XIRP2_uc002udy.2_5'UTR	p.K150N	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			2	468	+			Error:Variant_position_missing_in_A4UGR9_after_alignment					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.450G>C	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544483	0.45280	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.84516	-1.52;-1.86;3.84;-1.52;-1.86;3.84	5.51	4.64	0.57946	.	.	.	.	.	D	0.89694	0.6789	.	.	.	0.26369	N	0.976911	D;D	0.67145	0.996;0.996	D;D	0.64410	0.925;0.925	T	0.81602	-0.0858	8	0.51188	T	0.08	-7.5124	9.8951	0.41314	0.1556:0.0:0.8444:0.0	.	150;150	A4UGR9-4;A4UGR9-6	.;.	N	150	ENSP00000386454:K150N;ENSP00000386619:K150N;ENSP00000386840:K150N;ENSP00000386724:K150N;ENSP00000415541:K150N;ENSP00000295237:K150N	ENSP00000295237:K150N	K	+	3	2	XIRP2	167700706	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.721000	0.38032	1.344000	0.45657	0.591000	0.81541	AAG		0.433	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1		NM_152381		21	67	0	0	0	0.012319	0	21	67		
LRP2	4036	broad.mit.edu	37	2	170083085	170083085	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:170083085G>A	ENST00000263816.3	-	32	5526	c.5241C>T	c.(5239-5241)ttC>ttT	p.F1747F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1747					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.F1747F(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAGTTATTAAGAAAGGTTGAT	0.378																																						uc002ues.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(5239-5241)TTC>TTT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						76.0	73.0	74.0					2																	170083085		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170083085G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5241C>T	2.37:g.170083085G>A							p.F1747F	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	32	5454	-			1747			Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.5241C>T	CCDS2232.1																																																																																				0.378	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525		17	64	0	0	0	0.004007	0	17	64		
KLHL41	10324	broad.mit.edu	37	2	170367164	170367164	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:170367164G>A	ENST00000284669.1	+	1	953	c.876G>A	c.(874-876)ctG>ctA	p.L292L	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	292					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)		p.L292L(1)									CTGGTTACCTGAATGACATTC	0.478																																						uc002ueu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(874-876)CTG>CTA		kelch repeat and BTB (POZ) domain containing 10							140.0	142.0	141.0					2																	170367164		2203	4300	6503	SO:0001819	synonymous_variant	10324				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170367164G>A	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.876G>A	2.37:g.170367164G>A						KBTBD10_uc010zdh.1_Intron	p.L292L	NM_006063	NP_006054	O60662	KBTBA_HUMAN			1	953	+			292					Q53R42	Silent	SNP	ENST00000284669.1	37	c.876G>A	CCDS2234.1																																																																																				0.478	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1		NM_006063		22	63	0	0	0	0.010504	0	22	63		
DLX2	1746	broad.mit.edu	37	2	172965328	172965328	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:172965328G>C	ENST00000234198.4	-	3	1291	c.930C>G	c.(928-930)caC>caG	p.H310Q	DLX2_ENST00000466293.2_3'UTR|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	310	Poly-His.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)	p.H310Q(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGTGGTGGTGGTGATGCGGCT	0.672																																					GBM(188;775 2993 11256 23072)	uc002uhn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(928-930)CAC>CAG		distal-less homeobox 2							22.0	26.0	25.0					2																	172965328		2195	4283	6478	SO:0001583	missense	1746					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172965328G>C	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	2915	protein-coding gene	gene with protein product		126255	"""distal-less homeo box 2"""			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.930C>G	2.37:g.172965328G>C	ENSP00000234198:p.His310Gln						p.H310Q	NM_004405	NP_004396	Q07687	DLX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		3	1142	-			310			Poly-His.		B4DMK4|B7ZA14	Missense_Mutation	SNP	ENST00000234198.4	37	c.930C>G	CCDS2248.1	.	.	.	.	.	.	.	.	.	.	g	14.34	2.507070	0.44558	.	.	ENSG00000115844	ENST00000234198	D	0.90676	-2.71	4.44	2.58	0.30949	.	0.138100	0.48286	D	0.000189	T	0.76111	0.3942	N	0.08118	0	0.80722	D	1	B	0.14438	0.01	B	0.12837	0.008	T	0.61451	-0.7060	10	0.27785	T	0.31	.	4.4895	0.11806	0.3543:0.1575:0.4882:0.0	.	310	Q07687	DLX2_HUMAN	Q	310	ENSP00000234198:H310Q	ENSP00000234198:H310Q	H	-	3	2	DLX2	172673574	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.787000	0.38704	0.289000	0.22422	0.457000	0.33378	CAC		0.672	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3				6	38	0	0	0	0.001984	0	6	38		
NFE2L2	4780	broad.mit.edu	37	2	178098975	178098975	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:178098975A>G	ENST00000397062.3	-	2	624	c.70T>C	c.(70-72)Tgg>Cgg	p.W24R	NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8R|NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8R|NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8R|NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8R	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	24					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.W24R(2)		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)			TCTTGCCTCCAAAGTATGTCA	0.348			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		2	Substitution - Missense(2)		urinary_tract(1)|oesophagus(1)	central_nervous_system(1)	1						c.(70-72)TGG>CGG		nuclear factor erythroid 2-like 2 isoform 1							54.0	48.0	50.0					2																	178098975		1840	4093	5933	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.chr2:178098975A>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.70T>C	2.37:g.178098975A>G	ENSP00000380252:p.Trp24Arg	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.W8R|NFE2L2_uc010zfa.1_Missense_Mutation_p.W8R|NFE2L2_uc002uli.3_Missense_Mutation_p.W8R|NFE2L2_uc010fra.2_Missense_Mutation_p.W8R|NFE2L2_uc010frb.2_Missense_Mutation_p.W8R	p.W24R	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)		2	625	-			24					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.70T>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728249	0.69074	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.998	T	0.69461	-0.5139	10	0.87932	D	0	.	16.098	0.81144	1.0:0.0:0.0:0.0	.	8;8;8;24	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	R	8;24;8;8;8;8;8	ENSP00000380253:W8R;ENSP00000380252:W24R;ENSP00000411575:W8R;ENSP00000391590:W8R;ENSP00000400073:W8R;ENSP00000412191:W8R;ENSP00000410015:W8R	ENSP00000380252:W24R	W	-	1	0	NFE2L2	177807221	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.210000	0.71456	0.460000	0.39030	TGG		0.348	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		NM_006164		8	64	0	0	0	0.004482	0	8	64		
TTN	7273	broad.mit.edu	37	2	179472934	179472934	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:179472934G>A	ENST00000591111.1	-	225	47977	c.47753C>T	c.(47752-47754)tCa>tTa	p.S15918L	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S8619L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S14991L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S8494L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S8686L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S17559L			Q8WZ42	TITIN_HUMAN	titin	15918	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S14991L(2)|p.S8619L(1)|p.S8494L(1)|p.S8686L(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)			TTTGGGATCTGAAGGTGGACT	0.418																																						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.(44971-44973)TCA>TTA		titin isoform N2-A							62.0	58.0	59.0					2																	179472934		1910	4126	6036	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179472934G>A	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.47753C>T	2.37:g.179472934G>A	ENSP00000465570:p.Ser15918Leu					uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.S8686L|TTN_uc010zfi.1_Missense_Mutation_p.S8619L|TTN_uc010zfj.1_Missense_Mutation_p.S8494L	p.S14991L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		224	45196	-			15918					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.44972C>T		.	.	.	.	.	.	.	.	.	.	G	15.29	2.789755	0.50102	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.72	5.72	0.89469	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73289	0.3568	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.991;0.991;0.991;0.991	T	0.76375	-0.2982	9	0.87932	D	0	.	19.8731	0.96858	0.0:0.0:1.0:0.0	.	8494;8619;8686;15918	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	14991;8494;8686;8619;8494	ENSP00000343764:S14991L;ENSP00000434586:S8494L;ENSP00000340554:S8686L;ENSP00000352154:S8619L	ENSP00000340554:S8686L	S	-	2	0	TTN	179181179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.922000	0.87538	2.699000	0.92147	0.563000	0.77884	TCA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		9	21	0	0	0	0.006214	0	9	21		
TTN	7273	broad.mit.edu	37	2	179583286	179583286	+	Missense_Mutation	SNP	C	C	G	rs201365398		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:179583286C>G	ENST00000591111.1	-	83	23820	c.23596G>C	c.(23596-23598)Gag>Cag	p.E7866Q	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E6939Q|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E8183Q			Q8WZ42	TITIN_HUMAN	titin	12058	Ig-like 61.				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.E6939Q(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)			CTTCCTGTCTCAACACTGAAA	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		20149	0.0		0.001	False		,,,				2504	0.0					uc010zfg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	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.(20815-20817)GAG>CAG		titin isoform N2-A		C	GLN/GLU,,,	0,3794		0,0,1897	65.0	63.0	64.0		20815,,,	6.2	1.0	2		64	1,8281		0,1,4140	yes	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	29,,,	0,1,6037	GG,GC,CC		0.0121,0.0,0.0083	probably-damaging,,,	6939/33424,,,	179583286	1,12075	1897	4141	6038	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179583286C>G	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.23596G>C	2.37:g.179583286C>G	ENSP00000465570:p.Glu7866Gln					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3600Q	p.E6939Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		82	21039	-			7866					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.20815G>C		.	.	.	.	.	.	.	.	.	.	C	11.69	1.712445	0.30322	0.0	1.21E-4	ENSG00000155657	ENST00000342992	T	0.66280	-0.2	6.16	6.16	0.99307	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69940	0.3167	L	0.41824	1.3	0.80722	D	1	D	0.53312	0.959	P	0.54815	0.761	T	0.70149	-0.4951	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	7866	Q8WZ42	TITIN_HUMAN	Q	6939	ENSP00000343764:E6939Q	ENSP00000343764:E6939Q	E	-	1	0	TTN	179291531	0.997000	0.39634	0.997000	0.53966	0.995000	0.86356	3.986000	0.56937	2.937000	0.99478	0.650000	0.86243	GAG		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		9	49	0	0	0	0.004482	0	9	49		
TTN	7273	broad.mit.edu	37	2	179598113	179598113	+	Missense_Mutation	SNP	C	C	T	rs72648934		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:179598113C>T	ENST00000591111.1	-	52	15180	c.14956G>A	c.(14956-14958)Gcc>Acc	p.A4986T	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A4059T|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A5303T			Q8WZ42	TITIN_HUMAN	titin	12365	Ig-like 30.				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.A4059T(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)			TTTTTACTGGCGACCAAGGGT	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		17282	0.0		0.0	False		,,,				2504	0.001					uc010zfg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	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.(12175-12177)GCC>ACC		titin isoform N2-A							108.0	108.0	108.0					2																	179598113		1854	4105	5959	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598113C>T	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.14956G>A	2.37:g.179598113C>T	ENSP00000465570:p.Ala4986Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A720T	p.A4059T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		51	12399	-			4986					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.12175G>A		.	.	.	.	.	.	.	.	.	.	C	12.57	1.978828	0.34942	.	.	ENSG00000155657	ENST00000342992	T	0.66815	-0.23	5.86	4.91	0.64330	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55955	0.1953	L	0.31207	0.915	0.80722	D	1	B	0.19331	0.035	B	0.16289	0.015	T	0.56226	-0.8014	9	0.87932	D	0	.	14.1922	0.65646	0.2551:0.7449:0.0:0.0	.	4986	Q8WZ42	TITIN_HUMAN	T	4059	ENSP00000343764:A4059T	ENSP00000343764:A4059T	A	-	1	0	TTN	179306358	0.990000	0.36364	1.000000	0.80357	0.978000	0.69477	2.343000	0.44001	2.765000	0.95021	0.655000	0.94253	GCC		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		41	127	0	0	0	0.005524	0	41	127		
NEUROD1	4760	broad.mit.edu	37	2	182543515	182543515	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:182543515C>G	ENST00000295108.3	-	2	530	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	25					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E25Q(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTGAGACACTCGTCTGTCCAG	0.557																																						uc002uof.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(73-75)GAG>CAG		neurogenic differentiation 1							93.0	77.0	82.0					2																	182543515		2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182543515C>G	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.73G>C	2.37:g.182543515C>G	ENSP00000295108:p.Glu25Gln					CERKL_uc002uod.1_Intron	p.E25Q	NM_002500	NP_002491	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	309	-			25					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.73G>C	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316106	0.60524	.	.	ENSG00000162992	ENST00000295108	D	0.95377	-3.69	5.37	5.37	0.77165	.	0.211864	0.39341	N	0.001396	D	0.93135	0.7814	L	0.54323	1.7	0.42896	D	0.994214	B	0.28636	0.218	B	0.16289	0.015	D	0.91254	0.5031	10	0.46703	T	0.11	-8.4663	16.6621	0.85243	0.0:1.0:0.0:0.0	.	25	Q13562	NDF1_HUMAN	Q	25	ENSP00000295108:E25Q	ENSP00000295108:E25Q	E	-	1	0	NEUROD1	182251760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.792000	0.69052	2.788000	0.95919	0.650000	0.86243	GAG		0.557	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2		NM_002500		20	57	0	0	0	0.003954	0	20	57		
PDE1A	5136	broad.mit.edu	37	2	183095762	183095762	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:183095762C>T	ENST00000410103.1	-	6	645	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PDE1A_ENST00000346717.4_Missense_Mutation_p.D154N|PDE1A_ENST00000358139.2_Missense_Mutation_p.D188N|PDE1A_ENST00000331935.6_Missense_Mutation_p.D188N|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000536095.1_Missense_Mutation_p.D84N|PDE1A_ENST00000435564.1_Missense_Mutation_p.D188N|PDE1A_ENST00000351439.5_Missense_Mutation_p.D172N|PDE1A_ENST00000409365.1_Missense_Mutation_p.D172N|PDE1A_ENST00000456212.1_Missense_Mutation_p.D188N	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	188					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.D188N(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TTGATAAGATCATATCTGGTA	0.338																																						uc002uos.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(2)|ovary(1)	3						c.(562-564)GAT>AAT		phosphodiesterase 1A isoform 2							125.0	127.0	127.0					2																	183095762		2203	4299	6502	SO:0001583	missense	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183095762C>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.562G>A	2.37:g.183095762C>T	ENSP00000387037:p.Asp188Asn					PDE1A_uc010zfp.1_Missense_Mutation_p.D84N|PDE1A_uc002uoq.1_Missense_Mutation_p.D188N|PDE1A_uc010zfq.1_Missense_Mutation_p.D188N|PDE1A_uc002uor.2_Missense_Mutation_p.D172N|PDE1A_uc002uou.2_Missense_Mutation_p.D154N	p.D188N	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		6	646	-			188					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.562G>A	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114486	0.77210	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T;T	0.71103	-0.53;-0.52;-0.51;-0.52;-0.53;-0.52;-0.53;-0.53;-0.54	6.03	6.03	0.97812	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.79021	0.4376	L	0.52364	1.645	0.80722	D	1	B;P;B;D;B	0.62365	0.325;0.907;0.052;0.991;0.168	B;P;B;P;B	0.59595	0.134;0.686;0.034;0.86;0.16	T	0.74578	-0.3619	10	0.33141	T	0.24	.	19.545	0.95291	0.0:1.0:0.0:0.0	.	84;154;188;172;188	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	N	188;154;84;172;188;172;188;188;188	ENSP00000410309:D188N;ENSP00000329112:D154N;ENSP00000439938:D84N;ENSP00000386767:D172N;ENSP00000331574:D188N;ENSP00000309269:D172N;ENSP00000387037:D188N;ENSP00000350858:D188N;ENSP00000408874:D188N	ENSP00000331574:D188N	D	-	1	0	PDE1A	182804007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAT		0.338	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1				41	131	0	0	0	0.00874	0	41	131		
FAM171B	165215	broad.mit.edu	37	2	187626715	187626715	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:187626715C>T	ENST00000304698.5	+	8	1849	c.1646C>T	c.(1645-1647)tCc>tTc	p.S549F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	549						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.S549F(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GACCTTTTCTCCACACCGGAA	0.438																																						uc002ups.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|breast(3)|central_nervous_system(1)	10						c.(1645-1647)TCC>TTC		KIAA1946							98.0	85.0	90.0					2																	187626715		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187626715C>T	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1646C>T	2.37:g.187626715C>T	ENSP00000304108:p.Ser549Phe					FAM171B_uc002upr.1_Missense_Mutation_p.S516F|FAM171B_uc002upt.2_Missense_Mutation_p.S18F	p.S549F	NM_177454	NP_803237	Q6P995	F171B_HUMAN			8	1758	+			549			Cytoplasmic (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.1646C>T	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	1.995	-0.430826	0.04669	.	.	ENSG00000144369	ENST00000304698	T	0.32753	1.44	5.79	3.86	0.44501	.	0.588693	0.19321	N	0.117133	T	0.13415	0.0325	N	0.08118	0	0.09310	N	1	P;P	0.37612	0.602;0.602	B;B	0.38156	0.266;0.266	T	0.15723	-1.0427	10	0.10111	T	0.7	-0.5271	7.6599	0.28396	0.251:0.5154:0.2336:0.0	.	549;550	Q6P995;A8K122	F171B_HUMAN;.	F	549	ENSP00000304108:S549F	ENSP00000304108:S549F	S	+	2	0	FAM171B	187334960	0.937000	0.31787	0.727000	0.30756	0.327000	0.28475	2.650000	0.46665	2.707000	0.92482	0.655000	0.94253	TCC		0.438	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1		NM_177454		14	55	0	0	0	0.004007	0	14	55		
FAM171B	165215	broad.mit.edu	37	2	187626819	187626819	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:187626819C>G	ENST00000304698.5	+	8	1953	c.1750C>G	c.(1750-1752)Cag>Gag	p.Q584E		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	584						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.Q584E(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAACTTTACGCAGACCTTGCC	0.473																																						uc002ups.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|breast(3)|central_nervous_system(1)	10						c.(1750-1752)CAG>GAG		KIAA1946							88.0	83.0	85.0					2																	187626819		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187626819C>G	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1750C>G	2.37:g.187626819C>G	ENSP00000304108:p.Gln584Glu					FAM171B_uc002upr.1_Missense_Mutation_p.Q551E|FAM171B_uc002upt.2_Missense_Mutation_p.Q53E	p.Q584E	NM_177454	NP_803237	Q6P995	F171B_HUMAN			8	1862	+			584			Cytoplasmic (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.1750C>G	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713870	0.68730	.	.	ENSG00000144369	ENST00000304698	T	0.27256	1.68	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.26744	-1.0094	10	0.62326	D	0.03	-13.2684	20.5666	0.99351	0.0:1.0:0.0:0.0	.	584;585	Q6P995;A8K122	F171B_HUMAN;.	E	584	ENSP00000304108:Q584E	ENSP00000304108:Q584E	Q	+	1	0	FAM171B	187335064	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.405000	0.80007	2.854000	0.98071	0.655000	0.94253	CAG		0.473	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1		NM_177454		17	69	0	0	0	0.00499	0	17	69		
ABI2	10152	broad.mit.edu	37	2	204291976	204291976	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:204291976C>G	ENST00000422511.2	+	11	1375	c.1344C>G	c.(1342-1344)atC>atG	p.I448M	ABI2_ENST00000261018.7_Missense_Mutation_p.I267M|ABI2_ENST00000295851.5_Missense_Mutation_p.I481M|ABI2_ENST00000424558.1_Missense_Mutation_p.I475M|ABI2_ENST00000261017.5_Missense_Mutation_p.I443M|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000430418.1_Missense_Mutation_p.I426M|ABI2_ENST00000261016.6_Missense_Mutation_p.I369M			Q9NYB9	ABI2_HUMAN	abl-interactor 2	481					actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)	p.I443M(1)		breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TTTATGTCATCAAGAAGAATG	0.393																																						uc002vaa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1441-1443)ATC>ATG		abl interactor 2							185.0	156.0	166.0					2																	204291976		2203	4300	6503	SO:0001583	missense	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204291976C>G	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.1344C>G	2.37:g.204291976C>G	ENSP00000396249:p.Ile448Met					ABI2_uc002uzz.2_Missense_Mutation_p.I443M|ABI2_uc010zih.1_Missense_Mutation_p.I129M|ABI2_uc010zii.1_Missense_Mutation_p.I475M|ABI2_uc010zij.1_Missense_Mutation_p.I358M|ABI2_uc002vab.2_Missense_Mutation_p.I369M|ABI2_uc010zik.1_Missense_Mutation_p.I206M|ABI2_uc010zil.1_Missense_Mutation_p.I345M|ABI2_uc010zim.1_Missense_Mutation_p.I294M|ABI2_uc002vac.2_Missense_Mutation_p.I267M|ABI2_uc010zin.1_Missense_Mutation_p.I158M	p.I481M	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN			11	1678	+			481			SH3.		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37	c.1443C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.73|16.73	3.203454|3.203454	0.58234|0.58234	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511;ENST00000261018|ENST00000454023	T;T;T;T;T;T;T;T|.	0.55588|.	1.37;1.37;1.37;1.37;1.37;0.51;1.37;1.37|.	6.03|6.03	4.17|4.17	0.49024|0.49024	Src homology-3 domain (5);|.	0.087641|.	0.85682|.	D|.	0.000000|.	T|.	0.53818|.	0.1820|.	L|L	0.46741|0.46741	1.465|1.465	0.80722|0.80722	D|D	1|1	P;P;P;P;D;D;B;D;P|.	0.69078|.	0.937;0.93;0.455;0.556;0.988;0.997;0.224;0.991;0.695|.	P;P;P;B;D;D;B;D;B|.	0.81914|.	0.9;0.783;0.515;0.37;0.977;0.995;0.07;0.986;0.221|.	T|.	0.51284|.	-0.8725|.	10|.	0.87932|.	D|.	0|.	-12.9682|-12.9682	5.7959|5.7959	0.18387|0.18387	0.1385:0.6568:0.0:0.2047|0.1385:0.6568:0.0:0.2047	.|.	294;345;206;358;475;426;369;481;443|.	B7Z5L1;B7Z612;B4DMM5;B7Z836;Q9NYB9-4;E9PEZ7;Q9NYB9-3;Q9NYB9;Q9NYB9-2|.	.;.;.;.;.;.;.;ABI2_HUMAN;.|.	M|X	481;443;426;475;369;481;448;267|261	ENSP00000295851:I481M;ENSP00000261017:I443M;ENSP00000408898:I426M;ENSP00000391433:I475M;ENSP00000261016:I369M;ENSP00000414703:I481M;ENSP00000396249:I448M;ENSP00000261018:I267M|.	ENSP00000261016:I369M|.	I|S	+|+	3|2	3|0	ABI2|ABI2	204000221|204000221	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.069000|1.069000	0.30641|0.30641	1.551000|1.551000	0.49450|0.49450	0.655000|0.655000	0.94253|0.94253	ATC|TCA		0.393	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2		NM_005759		18	65	0	0	0	0.010504	0	18	65		
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.2		NaN		Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma 		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868						c.(394-396)CGT>CAT		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-			132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1				34	71	0	0	0	0.003271	0	34	71		
MAP2	4133	broad.mit.edu	37	2	210557605	210557605	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:210557605G>A	ENST00000360351.4	+	7	1217	c.711G>A	c.(709-711)atG>atA	p.M237I	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.M233I|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	237					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.M237I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGGAAGACATGAAACAGAAGA	0.458																																					Pancreas(27;423 979 28787 29963)	uc002vde.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(709-711)ATG>ATA		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						86.0	91.0	89.0					2																	210557605		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210557605G>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.711G>A	2.37:g.210557605G>A	ENSP00000353508:p.Met237Ile					MAP2_uc002vdc.1_Missense_Mutation_p.M237I|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.M233I	p.M237I	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	959	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	237					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.711G>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	3.520	-0.098041	0.07010	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.22336	3.37;1.96;3.37	5.45	-0.916	0.10489	.	1.292610	0.04752	N	0.424664	T	0.11665	0.0284	N	0.15975	0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28776	-1.0033	10	0.33141	T	0.24	6.8316	4.4437	0.11586	0.4541:0.0:0.3949:0.151	.	233;237	P11137-3;P11137	.;MAP2_HUMAN	I	237;319;233	ENSP00000353508:M237I;ENSP00000409969:M319I;ENSP00000392164:M233I	ENSP00000353508:M237I	M	+	3	0	MAP2	210265850	0.001000	0.12720	0.006000	0.13384	0.831000	0.47069	-0.319000	0.08039	-0.369000	0.08028	0.655000	0.94253	ATG		0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2		NM_001039538		23	105	0	0	0	0.004656	0	23	105		
TNS1	7145	broad.mit.edu	37	2	218712319	218712319	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:218712319G>A	ENST00000171887.4	-	17	2998	c.2546C>T	c.(2545-2547)tCa>tTa	p.S849L	TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_Missense_Mutation_p.S849L|TNS1_ENST00000419504.1_Missense_Mutation_p.S849L	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	849					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.S849L(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTCCTTTGGTGAGAGCAGAGG	0.602																																						uc002vgt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(1)	4						c.(2545-2547)TCA>TTA		tensin							67.0	72.0	71.0					2																	218712319		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712319G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2546C>T	2.37:g.218712319G>A	ENSP00000171887:p.Ser849Leu					TNS1_uc002vgr.2_Missense_Mutation_p.S849L|TNS1_uc002vgs.2_Missense_Mutation_p.S849L|TNS1_uc010zjv.1_Missense_Mutation_p.S849L|TNS1_uc010fvj.1_Missense_Mutation_p.S917L|TNS1_uc010fvk.1_Missense_Mutation_p.S974L|TNS1_uc010fvi.1_Missense_Mutation_p.S536L	p.S849L	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2944	-		Renal(207;0.0483)|Lung NSC(271;0.213)	849					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.2546C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	6.733	0.503916	0.12822	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930	D;D;D	0.91577	-2.86;-2.87;-2.87	4.31	4.31	0.51392	.	0.455537	0.22770	N	0.055852	D	0.82866	0.5130	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.79110	-0.1938	10	0.45353	T	0.12	.	15.1615	0.72788	0.0:0.0:1.0:0.0	.	849;903;849;849;849	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	L	849	ENSP00000171887:S849L;ENSP00000408724:S849L;ENSP00000406016:S849L	ENSP00000171887:S849L	S	-	2	0	TNS1	218420564	1.000000	0.71417	0.986000	0.45419	0.161000	0.22273	4.894000	0.63206	2.211000	0.71520	0.462000	0.41574	TCA		0.602	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2		NM_022648		39	97	0	0	0	0.004878	0	39	97		
SGPP2	130367	broad.mit.edu	37	2	223389719	223389719	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:223389719C>T	ENST00000321276.7	+	4	701	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	205					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.L205L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TGGTGTGTCTCAGCAGGCTCT	0.473																																						uc010zlo.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(613-615)CTC>CTT		sphingosine-1-phosphate phosphotase 2							252.0	196.0	215.0					2																	223389719		2203	4300	6503	SO:0001819	synonymous_variant	130367				sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr2:223389719C>T	AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.615C>T	2.37:g.223389719C>T						SGPP2_uc010zlp.1_Silent_p.L77L	p.L205L	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)	4	615	+		Renal(207;0.0376)	205			Helical; (Potential).		A3KPB4|Q8N8Q6	Silent	SNP	ENST00000321276.7	37	c.615C>T	CCDS2453.1																																																																																				0.473	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2				15	64	0	0	0	0.004007	0	15	64		
IRS1	3667	broad.mit.edu	37	2	227662879	227662879	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:227662879G>A	ENST00000305123.5	-	1	1596	c.576C>T	c.(574-576)atC>atT	p.I192I	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	192	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.I192I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TCACGAAGCTGATGGTCTTGC	0.552											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002voh.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(574-576)ATC>ATT		insulin receptor substrate 1							58.0	55.0	56.0					2																	227662879		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662879G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.576C>T	2.37:g.227662879G>A			OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.I192I	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	628	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	192			IRS-type PTB.			Silent	SNP	ENST00000305123.5	37	c.576C>T	CCDS2463.1																																																																																				0.552	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3		NM_005544		17	72	0	0	0	0.008871	0	17	72		
IRS1	3667	broad.mit.edu	37	2	227663125	227663125	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:227663125G>C	ENST00000305123.5	-	1	1350	c.330C>G	c.(328-330)ctC>ctG	p.L110L	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	110	Mediates interaction with PHIP. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.L110L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCAGCTGTAGGAGAGCCTGGT	0.672											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002voh.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(328-330)CTC>CTG		insulin receptor substrate 1							62.0	75.0	70.0					2																	227663125		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227663125G>C		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.330C>G	2.37:g.227663125G>C			OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.L110L	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	382	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	110			PH.|Mediates interaction with PHIP (By similarity).			Silent	SNP	ENST00000305123.5	37	c.330C>G	CCDS2463.1																																																																																				0.672	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3		NM_005544		26	131	0	0	0	0.004656	0	26	131		
COL4A4	1286	broad.mit.edu	37	2	227886844	227886844	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:227886844G>T	ENST00000396625.3	-	44	4343	c.4136C>A	c.(4135-4137)cCa>cAa	p.P1379Q	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1376Q	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1379	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P1379Q(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGAAGGCCTGGGATTCGGGG	0.582																																						uc010zlt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(4135-4137)CCA>CAA		alpha 4 type IV collagen precursor							137.0	145.0	143.0					2																	227886844		1907	4104	6011	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227886844G>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4136C>A	2.37:g.227886844G>T	ENSP00000379866:p.Pro1379Gln						p.P1379Q	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	43	4790	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1379			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.4136C>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818798	0.50633	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.91011	-2.77;-2.73	5.63	5.63	0.86233	.	.	.	.	.	D	0.91327	0.7265	L	0.28504	0.86	0.53688	D	0.999973	D	0.89917	1.0	D	0.85130	0.997	D	0.87524	0.2448	9	0.14656	T	0.56	.	15.5218	0.75871	0.0:0.0:1.0:0.0	.	1379	P53420	CO4A4_HUMAN	Q	1379;1376	ENSP00000379866:P1379Q;ENSP00000328553:P1376Q	ENSP00000328553:P1376Q	P	-	2	0	COL4A4	227595088	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.941000	0.63540	2.802000	0.96397	0.561000	0.74099	CCA		0.582	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1		NM_000092		76	297	1	0	9.61239e-26	0.01441	1.00116e-25	76	297		
COL4A3	1285	broad.mit.edu	37	2	228163449	228163449	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:228163449G>C	ENST00000396578.3	+	43	3965	c.3803G>C	c.(3802-3804)gGa>gCa	p.G1268A	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|COL4A3_ENST00000468753.1_3'UTR	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1268	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.G1268A(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGCATAAAAGGAGACAAAGGG	0.522																																						uc002vom.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(2)|ovary(1)	3						c.(3802-3804)GGA>GCA		alpha 3 type IV collagen isoform 1 precursor							66.0	68.0	68.0					2																	228163449		1874	4115	5989	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228163449G>C		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3803G>C	2.37:g.228163449G>C	ENSP00000379823:p.Gly1268Ala					COL4A3_uc002von.1_Missense_Mutation_p.G1268A|COL4A3_uc002voo.1_Missense_Mutation_p.G1268A|COL4A3_uc002vop.1_Missense_Mutation_p.G1268A|uc002voq.1_Intron|uc002vor.1_Intron	p.G1268A	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	43	3965	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1268			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.3803G>C	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238558	0.58886	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.96885	-4.16	5.44	5.44	0.79542	.	0.000000	0.56097	D	0.000028	D	0.98375	0.9460	M	0.88241	2.94	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.99194	1.0871	10	0.87932	D	0	.	17.4064	0.87474	0.0:0.0:1.0:0.0	.	1268;1268;1268;1268	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	A	1268	ENSP00000379823:G1268A	ENSP00000323334:G1268A	G	+	2	0	COL4A3	227871693	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	7.654000	0.83653	2.732000	0.93576	0.591000	0.81541	GGA		0.522	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2		NM_000091		21	73	0	0	0	0.014323	0	21	73		
TRIP12	9320	broad.mit.edu	37	2	230656622	230656622	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:230656622G>A	ENST00000283943.5	-	28	4328	c.4150C>T	c.(4150-4152)Cta>Tta	p.L1384L	TRIP12_ENST00000389045.3_Silent_p.L1114L|TRIP12_ENST00000389044.4_Silent_p.L1432L	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1384					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.L1384L(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCTCTGCCTAGAGGATTGCTC	0.378																																						uc002vpw.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(4150-4152)CTA>TTA		thyroid hormone receptor interactor 12							195.0	189.0	191.0					2																	230656622		2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230656622G>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4150C>T	2.37:g.230656622G>A						TRIP12_uc002vpx.1_Silent_p.L1432L|TRIP12_uc002vpy.1_Silent_p.L1114L	p.L1384L	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	28	4259	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1384					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.4150C>T	CCDS33391.1																																																																																				0.378	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3		NM_004238		58	199	0	0	0	0.01441	0	58	199		
ARMC9	80210	broad.mit.edu	37	2	232141419	232141419	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:232141419G>A	ENST00000349938.4	+	15	1599	c.1405G>A	c.(1405-1407)Gac>Aac	p.D469N	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	469						extracellular vesicular exosome (GO:0070062)		p.D469N(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GAAGGACCCTGACTGCCTGTC	0.557																																						uc002vrq.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1405-1407)GAC>AAC		armadillo repeat containing 9							153.0	141.0	146.0					2																	232141419		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232141419G>A	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1405G>A	2.37:g.232141419G>A	ENSP00000258417:p.Asp469Asn					ARMC9_uc002vrp.3_Missense_Mutation_p.D469N|ARMC9_uc002vrr.1_RNA	p.D469N	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	15	1517	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	469					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.1405G>A	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441733	0.83993	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000436339;ENST00000446447	T	0.19105	2.17	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	L	0.38175	1.15	0.80722	D	1	P	0.42296	0.775	P	0.48524	0.58	T	0.00708	-1.1600	10	0.40728	T	0.16	-28.5555	18.0014	0.89198	0.0:0.0:1.0:0.0	.	469	Q7Z3E5	ARMC9_HUMAN	N	469;469;186;111	ENSP00000258417:D469N	ENSP00000258417:D469N	D	+	1	0	ARMC9	231849663	1.000000	0.71417	0.939000	0.37840	0.538000	0.34931	8.900000	0.92551	2.549000	0.85964	0.563000	0.77884	GAC		0.557	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3		NM_025139		47	159	0	0	0	0.01441	0	47	159		
ARMC9	80210	broad.mit.edu	37	2	232141443	232141443	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:232141443G>A	ENST00000349938.4	+	15	1623	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	477						extracellular vesicular exosome (GO:0070062)		p.E477K(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CTACACGCTGGAGTACTCGGT	0.567																																						uc002vrq.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1429-1431)GAG>AAG		armadillo repeat containing 9							151.0	137.0	142.0					2																	232141443		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232141443G>A	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1429G>A	2.37:g.232141443G>A	ENSP00000258417:p.Glu477Lys					ARMC9_uc002vrp.3_Missense_Mutation_p.E477K|ARMC9_uc002vrr.1_RNA	p.E477K	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	15	1541	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	477					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.1429G>A	CCDS2484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.730022|4.730022	0.89390|0.89390	.|.	.|.	ENSG00000135931|ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000436339;ENST00000446447|ENST00000424740	T;T;T|.	0.50277|.	0.75;0.75;0.75|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.464347|.	0.21912|.	N|.	0.067292|.	T|.	0.73505|.	0.3595|.	M|M	0.75615|0.75615	2.305|2.305	0.48511|0.48511	D|D	0.999663|0.999663	D|.	0.61697|.	0.99|.	P|.	0.60682|.	0.878|.	T|.	0.74034|.	-0.3794|.	10|.	0.59425|.	D|.	0.04|.	-29.9444|-29.9444	13.418|13.418	0.60980|0.60980	0.0:0.158:0.842:0.0|0.0:0.158:0.842:0.0	.|.	477|.	Q7Z3E5|.	ARMC9_HUMAN|.	K|X	477;477;194;119|179	ENSP00000258417:E477K;ENSP00000392086:E194K;ENSP00000411778:E119K|.	ENSP00000258417:E477K|.	E|W	+|+	1|3	0|0	ARMC9|ARMC9	231849687|231849687	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	4.646000|4.646000	0.61411|0.61411	2.472000|2.472000	0.83506|0.83506	0.563000|0.563000	0.77884|0.77884	GAG|TGG		0.567	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3		NM_025139		37	139	0	0	0	0.00623	0	37	139		
HDAC4	9759	broad.mit.edu	37	2	240061422	240061422	+	Silent	SNP	C	C	T	rs138989369	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:240061422C>T	ENST00000345617.3	-	9	1727	c.936G>A	c.(934-936)gcG>gcA	p.A312A	HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Silent_p.A281A|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	312	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A312A(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TACCGTTCTCCGCGCTGACGC	0.662													C|||	4	0.000798722	0.0015	0.0	5008	,	,		17483	0.002		0.0	False		,,,				2504	0.0					uc002vyk.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(3)|skin(2)|ovary(1)	6						c.(934-936)GCG>GCA		histone deacetylase 4		C		5,4401	9.9+/-24.2	0,5,2198	80.0	84.0	83.0		936	-9.1	0.0	2	dbSNP_134	83	0,8600		0,0,4300	no	coding-synonymous	HDAC4	NM_006037.3		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		312/1085	240061422	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240061422C>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.936G>A	2.37:g.240061422C>T						HDAC4_uc010fyz.1_Silent_p.A307A|HDAC4_uc010zoa.1_Silent_p.A307A|HDAC4_uc010fza.2_Silent_p.A312A|HDAC4_uc010fyy.2_Silent_p.A264A|HDAC4_uc010znz.1_Silent_p.A195A|HDAC4_uc010fzb.1_RNA	p.A312A	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	9	1728	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	312			Interaction with MEF2A.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.936G>A	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	1.028	-0.682688	0.03353	0.001135	0.0	ENSG00000068024	ENST00000445704	.	.	.	4.54	-9.07	0.00724	.	.	.	.	.	T	0.33818	0.0876	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49399	-0.8944	4	.	.	.	.	1.3036	0.02084	0.2436:0.2629:0.3001:0.1934	.	.	.	.	Q	56	.	.	R	-	2	0	HDAC4	239726359	0.000000	0.05858	0.004000	0.12327	0.046000	0.14306	-6.478000	0.00064	-3.936000	0.00089	-2.443000	0.00211	CGG		0.662	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2		NM_006037		40	121	0	0	0	0.010771	0	40	121		
MTERF4	130916	broad.mit.edu	37	2	242039257	242039257	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:242039257T>C	ENST00000391980.2	-	2	132	c.74A>G	c.(73-75)cAg>cGg	p.Q25R	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000495694.1_Missense_Mutation_p.Q25R|MTERFD2_ENST00000407095.3_Missense_Mutation_p.Q25R|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		25					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)	p.Q25R(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		ATGAGGAGTCTGCCTAGCCAT	0.498																																						uc002wan.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(160-162)CAG>CGG		MTERF domain containing 2							32.0	34.0	33.0					2																	242039257		2203	4299	6502	SO:0001583	missense	130916							g.chr2:242039257T>C																												ENST00000391980.2:c.74A>G	2.37:g.242039257T>C	ENSP00000375840:p.Gln25Arg					MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.Q25R	p.Q54R	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	1	654	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	25					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.161A>G	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.398544	0.25205	.	.	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	T;T;T;T;T;T	0.47869	0.83;0.88;2.66;1.46;1.47;0.89	4.39	-4.2	0.03823	.	0.678460	0.12184	N	0.491818	T	0.27027	0.0662	L	0.32530	0.975	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.003;0.006	T	0.16453	-1.0402	10	0.27785	T	0.31	-1.6501	3.5844	0.07965	0.4477:0.1848:0.0:0.3675	.	25;25	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	R	25;25;25;18;25;4	ENSP00000419315:Q25R;ENSP00000385183:Q25R;ENSP00000375840:Q25R;ENSP00000409023:Q18R;ENSP00000385630:Q25R;ENSP00000393063:Q4R	ENSP00000241527:Q25R	Q	-	2	0	MTERFD2	241687930	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.670000	0.01956	-0.481000	0.06792	0.482000	0.46254	CAG		0.498	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4				12	26	0	0	0	0.001855	0	12	26		
D2HGDH	728294	broad.mit.edu	37	2	242707248	242707248	+	Missense_Mutation	SNP	G	G	C	rs565397135		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:242707248G>C	ENST00000321264.4	+	10	1639	c.1430G>C	c.(1429-1431)gGa>gCa	p.G477A	D2HGDH_ENST00000403782.1_Missense_Mutation_p.G343A|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	477					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.G477A(1)		breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCGGAGCACGGAGTGGGCTTC	0.701													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12287	0.0		0.0	False		,,,				2504	0.0					uc002wce.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1429-1431)GGA>GCA		D-2-hydroxyglutarate dehydrogenase precursor							34.0	32.0	33.0					2																	242707248		2201	4294	6495	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242707248G>C	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1430G>C	2.37:g.242707248G>C	ENSP00000315351:p.Gly477Ala					D2HGDH_uc010fzq.1_Missense_Mutation_p.G343A|D2HGDH_uc002wcg.1_RNA|D2HGDH_uc002wch.2_RNA|D2HGDH_uc002wci.2_Missense_Mutation_p.G176A	p.G477A	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	10	1603	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	477					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.1430G>C	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.25|15.25	2.777288|2.777288	0.49786|0.49786	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000445308|ENST00000321264;ENST00000403782;ENST00000542211	.|D;D	.|0.91180	.|-2.8;-2.8	4.76|4.76	3.88|3.88	0.44766|0.44766	.|Vanillyl-alcohol oxidase, C-terminal subdomain 2 (1);FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	.|0.056691	.|0.64402	.|D	.|0.000001	D|D	0.96589|0.96589	0.8887|0.8887	H|H	0.95950|0.95950	3.745|3.745	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.97057|0.97057	0.9768|0.9768	5|10	.|0.87932	.|D	.|0	4.3993|4.3993	12.9316|12.9316	0.58290|0.58290	0.0793:0.0:0.9207:0.0|0.0793:0.0:0.9207:0.0	.|.	.|477	.|Q8N465	.|D2HDH_HUMAN	Q|A	276|477;343;97	.|ENSP00000315351:G477A;ENSP00000384723:G343A	.|ENSP00000315351:G477A	E|G	+|+	1|2	0|0	D2HGDH|D2HGDH	242355921|242355921	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.002000|0.002000	0.02628|0.02628	8.836000|8.836000	0.92105|0.92105	1.000000|1.000000	0.39049|0.39049	-0.265000|-0.265000	0.10407|0.10407	GAG|GGA		0.701	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2		NM_152783		5	16	0	0	0	0.001168	0	5	16		
JAG1	182	broad.mit.edu	37	20	10632342	10632342	+	Splice_Site	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:10632342G>T	ENST00000254958.5	-	8	1522	c.1007C>A	c.(1006-1008)gCt>gAt	p.A336D	JAG1_ENST00000423891.2_Splice_Site_p.A177D	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	336	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.A336D(2)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGCGTGCTCAGCTGCAAAAAC	0.607									Alagille Syndrome																													uc002wnw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9	GRCh37	CD030144	JAG1	D		c.(1006-1008)GCT>GAT		jagged 1 precursor							60.0	51.0	54.0					20																	10632342		2203	4300	6503	SO:0001630	splice_region_variant	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10632342G>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1007-1C>A	20.37:g.10632342G>T						JAG1_uc010gcd.1_5'Flank	p.A336D	NM_000214	NP_000205	P78504	JAG1_HUMAN			8	1523	-			336			Extracellular (Potential).|EGF-like 4.		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.1007C>A	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050280	0.75846	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.87179	-2.22;-2.22	5.76	5.76	0.90799	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.86936	0.6053	L	0.50333	1.59	0.80722	D	1	B	0.28801	0.223	B	0.35931	0.214	T	0.82285	-0.0533	10	0.31617	T	0.26	.	20.3277	0.98707	0.0:0.0:1.0:0.0	.	336	P78504	JAG1_HUMAN	D	336;177	ENSP00000254958:A336D;ENSP00000389519:A177D	ENSP00000254958:A336D	A	-	2	0	JAG1	10580342	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	7.972000	0.88022	2.879000	0.98667	0.650000	0.86243	GCT		0.607	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_000214	Missense_Mutation	6	20	1	0	8.12818e-05	0.001984	8.22569e-05	6	20		
ISM1	140862	broad.mit.edu	37	20	13251215	13251215	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:13251215C>A	ENST00000262487.4	+	2	209	c.203C>A	c.(202-204)cCa>cAa	p.P68Q	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	68						extracellular region (GO:0005576)		p.P68Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AAAGAAGCACCAAGGGAGCAT	0.502																																						uc010gce.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(202-204)CCA>CAA		isthmin 1 homolog precursor							78.0	78.0	78.0					20																	13251215		1997	4157	6154	SO:0001583	missense	140862					extracellular region		g.chr20:13251215C>A	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.203C>A	20.37:g.13251215C>A	ENSP00000262487:p.Pro68Gln					TASP1_uc010zri.1_Intron	p.P68Q	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN			2	209	+			68					Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.203C>A	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	C	3.302	-0.142709	0.06669	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.42900	0.96;1.02	5.33	2.06	0.26882	.	0.600141	0.16967	N	0.192272	T	0.20007	0.0481	N	0.11427	0.14	0.18873	N	0.999984	B	0.06786	0.001	B	0.06405	0.002	T	0.12016	-1.0564	10	0.46703	T	0.11	-4.3611	4.0421	0.09756	0.1683:0.3309:0.412:0.0888	.	68	B1AKI9	ISM1_HUMAN	Q	68;22	ENSP00000262487:P68Q;ENSP00000409938:P22Q	ENSP00000262487:P68Q	P	+	2	0	ISM1	13199215	0.201000	0.23410	0.012000	0.15200	0.437000	0.31866	1.724000	0.38064	0.630000	0.30394	0.655000	0.94253	CCA		0.502	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2				12	42	1	0	0.00185496	0.001855	0.00187312	12	42		
SEL1L2	80343	broad.mit.edu	37	20	13850838	13850838	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:13850838G>C	ENST00000284951.5	-	13	1190	c.1116C>G	c.(1114-1116)atC>atG	p.I372M	SEL1L2_ENST00000378072.5_Missense_Mutation_p.I372M|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	372						integral component of membrane (GO:0016021)		p.I372M(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CATGAAGGCCGATTGCATTGC	0.333																																						uc010gcf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1114-1116)ATC>ATG		sel-1 suppressor of lin-12-like 2 precursor							70.0	72.0	71.0					20																	13850838		1803	4075	5878	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13850838G>C	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1116C>G	20.37:g.13850838G>C	ENSP00000284951:p.Ile372Met					SEL1L2_uc002woq.3_Missense_Mutation_p.I233M|SEL1L2_uc010zrl.1_Missense_Mutation_p.I372M|SEL1L2_uc002wor.2_RNA	p.I372M	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			13	1198	-			372			Extracellular (Potential).|Sel1-like 7.		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1116C>G		.	.	.	.	.	.	.	.	.	.	G	12.78	2.039324	0.35989	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.51574	0.7;0.7	5.65	3.39	0.38822	Tetratricopeptide-like helical (1);	0.000000	0.56097	D	0.000031	T	0.44767	0.1309	N	0.12887	0.27	0.36347	D	0.859851	P;D	0.89917	0.883;1.0	P;D	0.91635	0.701;0.999	T	0.48091	-0.9065	9	.	.	.	-12.2815	7.6417	0.28298	0.8311:0.0:0.1689:0.0	.	372;372	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	M	372	ENSP00000367312:I372M;ENSP00000284951:I372M	.	I	-	3	3	SEL1L2	13798838	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.350000	0.52224	0.415000	0.25817	-0.416000	0.06073	ATC		0.333	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3		NM_025229		26	85	0	0	0	0.005443	0	26	85		
FOXA2	3170	broad.mit.edu	37	20	22563340	22563340	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:22563340C>G	ENST00000377115.4	-	3	703	c.522G>C	c.(520-522)caG>caC	p.Q174H	FOXA2_ENST00000419308.2_Missense_Mutation_p.Q180H	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	174					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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)|transcription regulatory region DNA binding (GO:0044212)	p.Q174H(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGTTGGGGCTCTGCTGGATGG	0.617																																						uc002wsn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(520-522)CAG>CAC		forkhead box A2 isoform 2							127.0	111.0	117.0					20																	22563340		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563340C>G	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.522G>C	20.37:g.22563340C>G	ENSP00000366319:p.Gln174His					FOXA2_uc002wsm.2_Missense_Mutation_p.Q180H	p.Q174H	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN			3	712	-	Lung NSC(19;0.188)		174			Fork-head.		Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.522G>C	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290319	0.59976	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.95447	-3.71;-3.71;-3.71	4.98	4.04	0.47022	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	U	0.000020	D	0.95242	0.8457	L	0.42245	1.32	0.58432	D	0.999997	D;D	0.69078	0.997;0.99	P;P	0.56823	0.763;0.807	D	0.95097	0.8227	10	0.87932	D	0	.	12.7558	0.57335	0.0:0.9189:0.0:0.0811	.	174;180	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	H	174;174;180;60	ENSP00000366319:Q174H;ENSP00000400341:Q174H;ENSP00000315955:Q180H	ENSP00000315955:Q180H	Q	-	3	2	FOXA2	22511340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.309000	0.33539	1.087000	0.41251	0.574000	0.79327	CAG		0.617	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1				41	117	0	0	0	0.010771	0	41	117		
ABHD12	26090	broad.mit.edu	37	20	25295601	25295601	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:25295601C>G	ENST00000339157.5	-	6	851	c.579G>C	c.(577-579)ctG>ctC	p.L193L	ABHD12_ENST00000376542.3_Silent_p.L193L	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	193					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)	p.L193L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						CAAGGGAACTCAGCACCTGTA	0.448																																						uc002wus.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(1)	1						c.(577-579)CTG>CTC		abhydrolase domain containing 12 isoform a							150.0	134.0	139.0					20																	25295601		2203	4300	6503	SO:0001819	synonymous_variant	26090					integral to membrane	acylglycerol lipase activity	g.chr20:25295601C>G	AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.579G>C	20.37:g.25295601C>G						ABHD12_uc002wuq.2_Silent_p.L193L|ABHD12_uc002wur.2_Silent_p.L193L|ABHD12_uc002wut.1_Silent_p.L193L|ABHD12_uc002wuu.1_5'UTR	p.L193L	NM_001042472	NP_001035937	Q8N2K0	ABD12_HUMAN			6	717	-			193			Extracellular (Potential).		A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Silent	SNP	ENST00000339157.5	37	c.579G>C	CCDS42857.1																																																																																				0.448	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2		NM_015600		22	91	0	0	0	0.014323	0	22	91		
BPIFA2	140683	broad.mit.edu	37	20	31760844	31760844	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:31760844C>T	ENST00000253362.2	+	3	410	c.264C>T	c.(262-264)gtC>gtT	p.V88V	BPIFA2_ENST00000354932.5_Silent_p.V88V			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	88						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)	p.V88V(1)									TGAACAATGTCATTTCTAAGC	0.463																																						uc002wyo.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(262-264)GTC>GTT		chromosome 20 open reading frame 70 precursor							118.0	107.0	111.0					20																	31760844		2203	4300	6503	SO:0001819	synonymous_variant	140683					extracellular region	lipid binding	g.chr20:31760844C>T	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.264C>T	20.37:g.31760844C>T							p.V88V	NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN			3	335	+			88					Q9BQQ0	Silent	SNP	ENST00000253362.2	37	c.264C>T	CCDS13214.1																																																																																				0.463	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1		NM_080574		26	62	0	0	0	0.005443	0	26	62		
BPIFA3	128861	broad.mit.edu	37	20	31813019	31813019	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:31813019G>C	ENST00000375454.3	+	4	712	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	BPIFA3_ENST00000375452.3_Missense_Mutation_p.E132Q|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	168						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.E168Q(1)									ATGCGATGCAGAGCCCAGCAG	0.572																																						uc002wyr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(502-504)GAG>CAG		short long palate, lung and nasal epithelium							179.0	174.0	176.0					20																	31813019		2203	4300	6503	SO:0001583	missense	128861					extracellular region	lipid binding	g.chr20:31813019G>C		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.502G>C	20.37:g.31813019G>C	ENSP00000364603:p.Glu168Gln					C20orf71_uc002wys.2_Missense_Mutation_p.E132Q	p.E168Q	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN			4	710	+			168					Q5JWG8|Q6NZ38	Missense_Mutation	SNP	ENST00000375454.3	37	c.502G>C	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140089	0.56936	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	T;T	0.05382	3.45;3.45	3.49	1.46	0.22682	.	0.488350	0.17289	N	0.179735	T	0.11281	0.0275	L	0.32530	0.975	0.24160	N	0.995661	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	T	0.14980	-1.0453	10	0.40728	T	0.16	-8.9761	4.6719	0.12692	0.126:0.2261:0.6479:0.0	.	132;168	Q9BQP9-2;Q9BQP9	.;BPIA3_HUMAN	Q	168;132	ENSP00000364603:E168Q;ENSP00000364601:E132Q	ENSP00000364601:E132Q	E	+	1	0	BPIFA3	31276680	0.800000	0.28916	0.593000	0.28771	0.407000	0.30961	0.908000	0.28545	0.422000	0.26005	0.462000	0.41574	GAG		0.572	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1		NM_178466		42	132	0	0	0	0.00874	0	42	132		
CPNE1	8904	broad.mit.edu	37	20	34220101	34220101	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:34220101C>G	ENST00000317619.3	-	7	834	c.440G>C	c.(439-441)aGa>aCa	p.R147T	CPNE1_ENST00000352393.4_Missense_Mutation_p.R147T|CPNE1_ENST00000317677.5_Missense_Mutation_p.R152T|CPNE1_ENST00000397445.1_Missense_Mutation_p.R147T|CPNE1_ENST00000397443.1_Missense_Mutation_p.R147T|CPNE1_ENST00000397446.1_Missense_Mutation_p.R147T|CPNE1_ENST00000397442.1_Missense_Mutation_p.R147T			Q99829	CPNE1_HUMAN	copine I	147	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.R147T(1)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATCTAGGTTTCTGGCCTCTAC	0.483																																						uc002xdf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)	1						c.(439-441)AGA>ACA		copine I isoform a							173.0	149.0	157.0					20																	34220101		2203	4300	6503	SO:0001583	missense	8904				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	g.chr20:34220101C>G	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.440G>C	20.37:g.34220101C>G	ENSP00000326126:p.Arg147Thr					CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Missense_Mutation_p.R152T|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdg.2_Missense_Mutation_p.R147T|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.R147T|CPNE1_uc002xdi.2_Missense_Mutation_p.R147T|CPNE1_uc002xdj.2_Missense_Mutation_p.R147T|CPNE1_uc002xdk.2_Missense_Mutation_p.R147T|CPNE1_uc002xdl.2_Missense_Mutation_p.R147T|CPNE1_uc002xdm.2_Missense_Mutation_p.R147T|CPNE1_uc010gfk.1_Missense_Mutation_p.R147T	p.R147T	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		7	803	-	Lung NSC(9;0.0053)|all_lung(11;0.00785)		147			C2 2.		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	c.440G>C	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	c	15.14	2.746476	0.49257	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000414664;ENST00000439806;ENST00000420363;ENST00000434795;ENST00000440240;ENST00000437100	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;0.82;1.54	5.12	5.12	0.69794	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.121518	0.53938	U	0.000047	T	0.77705	0.4170	L	0.41824	1.3	0.32483	N	0.541251	D;D;D;B	0.76494	0.996;0.996;0.999;0.003	D;D;D;B	0.70016	0.967;0.967;0.967;0.017	T	0.79997	-0.1567	10	0.42905	T	0.14	-4.5399	16.11	0.81255	0.0:1.0:0.0:0.0	.	152;147;147;147	B0QZ18;E7ENH5;A6PVH9;Q99829	.;.;.;CPNE1_HUMAN	T	147;152;147;147;147;147;147;147;147;147;147;147;147;147	ENSP00000336945:R147T;ENSP00000317257:R152T;ENSP00000326126:R147T;ENSP00000380588:R147T;ENSP00000380587:R147T;ENSP00000380585:R147T;ENSP00000380584:R147T;ENSP00000415597:R147T;ENSP00000404355:R147T;ENSP00000387434:R147T;ENSP00000401915:R147T;ENSP00000409794:R147T;ENSP00000397638:R147T;ENSP00000391483:R147T	ENSP00000326126:R147T	R	-	2	0	CPNE1	33683515	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.204000	0.42761	2.663000	0.90544	0.558000	0.71614	AGA		0.483	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3		NM_152930		21	69	0	0	0	0.004656	0	21	69		
CTNNBL1	56259	broad.mit.edu	37	20	36488327	36488327	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:36488327C>T	ENST00000361383.6	+	14	1536	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	CTNNBL1_ENST00000373473.1_Silent_p.I286I|CTNNBL1_ENST00000405275.2_Silent_p.I446I|CTNNBL1_ENST00000373469.1_Silent_p.I221I|CTNNBL1_ENST00000473857.1_3'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	473					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)	p.I473I(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GAGAGATCATCGACAATGACA	0.522																																					Ovarian(184;582 2038 3273 4106 42608)	uc010zvw.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(1417-1419)ATC>ATT		beta catenin-like 1							57.0	53.0	54.0					20																	36488327		2203	4300	6503	SO:0001819	synonymous_variant	56259				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	g.chr20:36488327C>T	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1419C>T	20.37:g.36488327C>T						CTNNBL1_uc002xhh.2_Silent_p.I286I|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Silent_p.I221I	p.I473I	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN			15	1510	+		Myeloproliferative disorder(115;0.00878)	473					B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Silent	SNP	ENST00000361383.6	37	c.1419C>T	CCDS13298.1																																																																																				0.522	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1		NM_030877		8	52	0	0	0	0.00308	0	8	52		
BPI	671	broad.mit.edu	37	20	36948673	36948673	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:36948673G>A	ENST00000262865.4	+	7	854	c.765G>A	c.(763-765)atG>atA	p.M255I	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	255					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.M255I(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				ATGTACAGATGAAGGTGAGGC	0.498																																						uc002xib.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(763-765)ATG>ATA		bactericidal/permeability-increasing protein							80.0	64.0	69.0					20																	36948673		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36948673G>A	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.765G>A	20.37:g.36948673G>A	ENSP00000262865:p.Met255Ile						p.M255I	NM_001725	NP_001716	P17213	BPI_HUMAN			7	827	+		Myeloproliferative disorder(115;0.00878)	255					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.765G>A	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	G	7.980	0.750915	0.15778	.	.	ENSG00000101425	ENST00000262865	T	0.09073	3.02	3.94	2.97	0.34412	Lipid-binding serum glycoprotein, N-terminal (1);Lipid-binding serum glycoprotein, C-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.303658	0.22646	N	0.057387	T	0.05502	0.0145	N	0.22421	0.69	0.24160	N	0.995664	B	0.23990	0.095	B	0.23419	0.046	T	0.32295	-0.9912	10	0.45353	T	0.12	-1.7322	5.7083	0.17921	0.252:0.0:0.748:0.0	.	255	P17213	BPI_HUMAN	I	255	ENSP00000262865:M255I	ENSP00000262865:M255I	M	+	3	0	BPI	36382087	1.000000	0.71417	0.907000	0.35723	0.174000	0.22865	1.494000	0.35616	0.961000	0.38030	0.313000	0.20887	ATG		0.498	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2		NM_001725		6	42	0	0	0	0.001168	0	6	42		
TOP1	7150	broad.mit.edu	37	20	39708734	39708734	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:39708734A>T	ENST00000361337.2	+	6	595	c.345A>T	c.(343-345)caA>caT	p.Q115H		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	115	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.Q115H(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	GTCCACCACAAATTAAAGATG	0.348			T	NUP98	AML*																																	uc002xjl.2		NaN		Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7						c.(343-345)CAA>CAT		DNA topoisomerase I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						93.0	92.0	92.0					20																	39708734		2203	4299	6502	SO:0001583	missense	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39708734A>T		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.345A>T	20.37:g.39708734A>T	ENSP00000354522:p.Gln115His					TOP1_uc010gge.1_RNA	p.Q115H	NM_003286	NP_003277	P11387	TOP1_HUMAN			6	591	+		Myeloproliferative disorder(115;0.00878)	115			Lys-rich.		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	c.345A>T	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.721124	0.30503	.	.	ENSG00000198900	ENST00000361337	T	0.23147	1.92	5.63	1.78	0.24846	.	0.272836	0.41712	D	0.000822	T	0.06917	0.0176	N	0.01576	-0.805	0.21105	N	0.999784	B	0.22480	0.07	B	0.22386	0.039	T	0.18903	-1.0322	10	0.37606	T	0.19	-0.9808	0.4878	0.00559	0.4512:0.1422:0.2047:0.2019	.	115	P11387	TOP1_HUMAN	H	115	ENSP00000354522:Q115H	ENSP00000354522:Q115H	Q	+	3	2	TOP1	39142148	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.605000	0.24179	0.370000	0.24538	0.533000	0.62120	CAA		0.348	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2				13	52	0	0	0	0.00245	0	13	52		
SEMG2	6407	broad.mit.edu	37	20	43850714	43850714	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:43850714G>A	ENST00000372769.3	+	2	531	c.441G>A	c.(439-441)ggG>ggA	p.G147G		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	147	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.G147G(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAGATCAGGGGAATAGCCCAT	0.408																																						uc010ggz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(439-441)GGG>GGA		semenogelin II precursor							105.0	93.0	97.0					20																	43850714		2203	4300	6503	SO:0001819	synonymous_variant	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43850714G>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.441G>A	20.37:g.43850714G>A						SEMG2_uc002xnk.2_Silent_p.G147G|SEMG2_uc002xnl.2_Silent_p.G147G	p.G147G	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			2	498	+		Myeloproliferative disorder(115;0.0122)	147			Repeat-rich region.|2-1.		Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	ENST00000372769.3	37	c.441G>A	CCDS13346.1																																																																																				0.408	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1		NM_003008		22	65	0	0	0	0.010504	0	22	65		
SEMG2	6407	broad.mit.edu	37	20	43850728	43850728	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:43850728G>A	ENST00000372769.3	+	2	545	c.455G>A	c.(454-456)gGa>gAa	p.G152E		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	152	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.G152E(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AGCCCATCTGGAAAGGGATTA	0.408																																						uc010ggz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(454-456)GGA>GAA		semenogelin II precursor							101.0	90.0	93.0					20																	43850728		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43850728G>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.455G>A	20.37:g.43850728G>A	ENSP00000361855:p.Gly152Glu					SEMG2_uc002xnk.2_Missense_Mutation_p.G152E|SEMG2_uc002xnl.2_Missense_Mutation_p.G152E	p.G152E	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			2	512	+		Myeloproliferative disorder(115;0.0122)	152			Repeat-rich region.|2-1.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.455G>A	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	9.288	1.049841	0.19827	.	.	ENSG00000124157	ENST00000372769	T	0.08896	3.04	1.38	-2.75	0.05914	.	.	.	.	.	T	0.17959	0.0431	M	0.62723	1.935	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.08006	-1.0743	9	0.49607	T	0.09	.	3.247	0.06801	0.0:0.3537:0.242:0.4043	.	152;152;152	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	E	152	ENSP00000361855:G152E	ENSP00000361855:G152E	G	+	2	0	SEMG2	43284142	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.127000	0.03251	-1.109000	0.02996	-0.976000	0.02587	GGA		0.408	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1		NM_003008		23	70	0	0	0	0.012319	0	23	70		
ZNF335	63925	broad.mit.edu	37	20	44577600	44577600	+	Missense_Mutation	SNP	C	C	T	rs200346507		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:44577600C>T	ENST00000322927.2	-	28	4121	c.4021G>A	c.(4021-4023)Gat>Aat	p.D1341N	ZNF335_ENST00000426788.1_Missense_Mutation_p.D1186N	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1341					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.D1341N(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCTCAGTCATCGGCCAGGGTG	0.607													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21934	0.0		0.0	False		,,,				2504	0.0					uc002xqw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(1)	4						c.(4021-4023)GAT>AAT		zinc finger protein 335		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	74.0	68.0	70.0		4021	5.4	1.0	20		70	0,8600		0,0,4300	no	missense	ZNF335	NM_022095.3	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1341/1343	44577600	1,13005	2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44577600C>T	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.4021G>A	20.37:g.44577600C>T	ENSP00000325326:p.Asp1341Asn					ZNF335_uc002xqv.2_Missense_Mutation_p.D453N|ZNF335_uc010zxk.1_Missense_Mutation_p.D1186N	p.D1341N	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			28	4144	-		Myeloproliferative disorder(115;0.0122)	1341					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.4021G>A	CCDS13389.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.61	3.169893	0.57584	2.27E-4	0.0	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.15017	2.61;2.46	5.41	5.41	0.78517	.	0.175429	0.48286	D	0.000185	T	0.12092	0.0294	N	0.24115	0.695	0.40639	D	0.981927	B;B	0.18461	0.028;0.016	B;B	0.10450	0.005;0.004	T	0.05225	-1.0898	10	0.72032	D	0.01	-12.4482	9.639	0.39828	0.0:0.7778:0.144:0.0781	.	1186;1341	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	N	1341;1118;1186	ENSP00000325326:D1341N;ENSP00000397098:D1186N	ENSP00000243961:D1118N	D	-	1	0	ZNF335	44011007	0.974000	0.33945	0.959000	0.39883	0.973000	0.67179	3.465000	0.53064	2.527000	0.85204	0.563000	0.77884	GAT		0.607	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1		NM_022095		23	68	0	0	0	0.003954	0	23	68		
PTGIS	5740	broad.mit.edu	37	20	48130897	48130897	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:48130897G>C	ENST00000244043.4	-	7	920	c.891C>G	c.(889-891)ctC>ctG	p.L297L	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	297					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)	p.L297L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	TGAGAAGGAAGAGCAGGAGCC	0.597																																						uc002xut.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(889-891)CTC>CTG		prostaglandin I2 synthase	Phenylbutazone(DB00812)						43.0	39.0	40.0					20																	48130897		2203	4300	6503	SO:0001819	synonymous_variant	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48130897G>C		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.891C>G	20.37:g.48130897G>C						PTGIS_uc010zyi.1_Silent_p.L158L	p.L297L	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		7	945	-			297					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Silent	SNP	ENST00000244043.4	37	c.891C>G	CCDS13419.1																																																																																				0.597	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2				14	54	0	0	0	0.00499	0	14	54		
SLC9A8	23315	broad.mit.edu	37	20	48497480	48497480	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:48497480G>C	ENST00000361573.2	+	13	1220	c.1178G>C	c.(1177-1179)aGa>aCa	p.R393T	SLC9A8_ENST00000541138.1_Missense_Mutation_p.R93T|SLC9A8_ENST00000417961.1_Missense_Mutation_p.R409T|SLC9A8_ENST00000539601.1_Missense_Mutation_p.R174T			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	393					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)	p.R393T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CTATTTGGCAGAGCGGTAAAC	0.413																																						uc002xuv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1177-1179)AGA>ACA		sodium/hydrogen exchanger 8							207.0	177.0	187.0					20																	48497480		2203	4300	6503	SO:0001583	missense	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48497480G>C	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1178G>C	20.37:g.48497480G>C	ENSP00000354966:p.Arg393Thr					SLC9A8_uc010zym.1_Missense_Mutation_p.R93T|SLC9A8_uc010gic.2_Missense_Mutation_p.R93T|SLC9A8_uc010gid.2_Missense_Mutation_p.R17T	p.R393T	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		13	1388	+			393			Helical; (Potential).		B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.1178G>C	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010921	0.93346	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000541138;ENST00000539601	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.62	5.62	0.85841	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.70369	0.3216	H	0.98370	4.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.82874	-0.0241	10	0.87932	D	0	.	19.6758	0.95932	0.0:0.0:1.0:0.0	.	93;174;393	B4DIV9;B4DIX7;Q9Y2E8	.;.;SL9A8_HUMAN	T	409;393;93;174	ENSP00000416418:R409T;ENSP00000354966:R393T;ENSP00000441615:R93T;ENSP00000441716:R174T	ENSP00000354966:R393T	R	+	2	0	SLC9A8	47930887	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.688000	0.98670	2.644000	0.89710	0.561000	0.74099	AGA		0.413	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3		XM_030524		33	127	0	0	0	0.012213	0	33	127		
SALL4	57167	broad.mit.edu	37	20	50408216	50408216	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:50408216G>C	ENST00000217086.4	-	2	917	c.806C>G	c.(805-807)tCt>tGt	p.S269C	SALL4_ENST00000395997.3_Missense_Mutation_p.S269C|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	269					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S269C(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACAGCTGCAGAAACCTGCTG	0.592																																						uc002xwh.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(805-807)TCT>TGT		sal-like 4							46.0	40.0	42.0					20																	50408216		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408216G>C	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.806C>G	20.37:g.50408216G>C	ENSP00000217086:p.Ser269Cys					SALL4_uc010gii.2_Missense_Mutation_p.S269C|SALL4_uc002xwi.3_Intron	p.S269C	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			2	907	-			269					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.806C>G	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.304186	0.60305	.	.	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.71461	-0.57;-0.57	5.29	5.29	0.74685	.	0.159441	0.30201	N	0.010168	D	0.85639	0.5743	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	D	0.87090	0.2172	10	0.59425	D	0.04	-19.1833	18.5316	0.90995	0.0:0.0:1.0:0.0	.	269;269	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	C	269	ENSP00000217086:S269C;ENSP00000379319:S269C	ENSP00000217086:S269C	S	-	2	0	SALL4	49841623	1.000000	0.71417	0.235000	0.24058	0.857000	0.48899	9.666000	0.98612	2.466000	0.83321	0.655000	0.94253	TCT		0.592	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3				5	30	0	0	0	0.004007	0	5	30		
FAM217B	63939	broad.mit.edu	37	20	58520007	58520007	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:58520007G>C	ENST00000358293.3	+	5	1424	c.1009G>C	c.(1009-1011)Gat>Cat	p.D337H	FAM217B_ENST00000360816.3_Missense_Mutation_p.D337H|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	337								p.D337H(1)									GGACTCAGCAGATTCCTGTAA	0.517																																						uc002yba.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(1009-1011)GAT>CAT		hypothetical protein LOC63939							75.0	77.0	77.0					20																	58520007		2203	4300	6503	SO:0001583	missense	63939							g.chr20:58520007G>C	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.1009G>C	20.37:g.58520007G>C	ENSP00000351040:p.Asp337His					C20orf177_uc010zzx.1_Missense_Mutation_p.D180H|C20orf177_uc002ybc.2_Missense_Mutation_p.D337H	p.D337H	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.22e-08)		5	1424	+	all_lung(29;0.00693)		337					B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	c.1009G>C	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.618029	0.46736	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.32272	1.46;1.46	5.35	2.33	0.28932	.	1.076990	0.07210	N	0.858972	T	0.24353	0.0590	L	0.32530	0.975	0.09310	N	1	B	0.17038	0.02	B	0.19391	0.025	T	0.30563	-0.9974	10	0.59425	D	0.04	-9.9749	5.836	0.18607	0.2203:0.1415:0.6382:0.0	.	337	Q9NTX9	CT177_HUMAN	H	337	ENSP00000351040:D337H;ENSP00000354056:D337H	ENSP00000351040:D337H	D	+	1	0	C20orf177	57953402	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	1.427000	0.34881	0.629000	0.30376	-0.218000	0.12543	GAT		0.517	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1		NM_022106		17	54	0	0	0	0.00499	0	17	54		
LAMA5	3911	broad.mit.edu	37	20	60921260	60921260	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:60921260C>T	ENST00000252999.3	-	10	1360	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	LAMA5_ENST00000370692.3_Missense_Mutation_p.E432K|LAMA5_ENST00000370677.3_Missense_Mutation_p.E432K	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	432	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.E432K(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AAGTCGGACTCGCAGTTGCAG	0.647																																						uc002ycq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1294-1296)GAG>AAG		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						39.0	32.0	35.0					20																	60921260		2196	4293	6489	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60921260C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1294G>A	20.37:g.60921260C>T	ENSP00000252999:p.Glu432Lys						p.E432K	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		10	1361	-	Breast(26;1.57e-08)		432			Laminin EGF-like 3.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.1294G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	8.162	0.789651	0.16258	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.61274	0.12;0.12;0.12	4.78	3.81	0.43845	EGF-like, laminin (3);	0.366890	0.29579	N	0.011743	T	0.40791	0.1131	L	0.31752	0.955	0.39997	D	0.975116	P	0.34724	0.465	B	0.28991	0.097	T	0.30736	-0.9968	10	0.38643	T	0.18	.	10.0573	0.42252	0.0:0.7836:0.1385:0.0779	.	432	O15230	LAMA5_HUMAN	K	432	ENSP00000252999:E432K;ENSP00000359726:E432K;ENSP00000359711:E432K	ENSP00000252999:E432K	E	-	1	0	LAMA5	60354655	1.000000	0.71417	0.825000	0.32803	0.074000	0.17049	2.731000	0.47343	0.947000	0.37659	0.561000	0.74099	GAG		0.647	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560		11	19	0	0	0	0.008291	0	11	19		
UCKL1	54963	broad.mit.edu	37	20	62577259	62577259	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:62577259C>T	ENST00000354216.6	-	4	523	c.481G>A	c.(481-483)Gac>Aac	p.D161N	UCKL1_ENST00000369908.5_Missense_Mutation_p.D146N|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000369892.3_Missense_Mutation_p.D161N|UCKL1_ENST00000358711.3_Missense_Mutation_p.D161N	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	161					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)	p.D161N(1)		endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGGTCGAAGTCAAAGGCATCT	0.562																																						uc010gkn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(481-483)GAC>AAC		uridine-cytidine kinase 1-like 1							300.0	281.0	287.0					20																	62577259		2203	4300	6503	SO:0001583	missense	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62577259C>T	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.481G>A	20.37:g.62577259C>T	ENSP00000346155:p.Asp161Asn					UCKL1_uc011abm.1_Missense_Mutation_p.D146N|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA	p.D161N	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN			4	524	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		161					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	ENST00000354216.6	37	c.481G>A	CCDS13547.1	.	.	.	.	.	.	.	.	.	.	c	25.3	4.623199	0.87460	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000358711;ENST00000369908	.	.	.	5.63	5.63	0.86233	Phosphoribulokinase/uridine kinase (1);	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.97110	1.0;0.819	D	0.86659	0.1903	9	0.56958	D	0.05	-45.5994	17.8538	0.88756	0.0:1.0:0.0:0.0	.	146;161	B7Z8N2;Q9NWZ5	.;UCKL1_HUMAN	N	161;161;161;146	.	ENSP00000346155:D161N	D	-	1	0	UCKL1	62047703	1.000000	0.71417	0.987000	0.45799	0.400000	0.30750	7.394000	0.79862	2.660000	0.90430	0.486000	0.48141	GAC		0.562	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1		NM_017859		86	284	0	0	0	0.01441	0	86	284		
LIPI	149998	broad.mit.edu	37	21	15561577	15561577	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:15561577G>A	ENST00000536861.1	-	2	209	c.210C>T	c.(208-210)ttC>ttT	p.F70F	LIPI_ENST00000344577.2_Silent_p.F91F			Q6XZB0	LIPI_HUMAN	lipase, member I	70					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.F91F(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTTGTGTGTTGAAATTAACAT	0.383																																						uc002yjm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(271-273)TTC>TTT		lipase, member I							138.0	124.0	129.0					21																	15561577		2203	4300	6503	SO:0001819	synonymous_variant	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15561577G>A	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.210C>T	21.37:g.15561577G>A						LIPI_uc010gkw.1_Silent_p.F24F	p.F91F	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	2	283	-			70					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Silent	SNP	ENST00000536861.1	37	c.273C>T																																																																																					0.383	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_198996		31	89	0	0	0	0.010818	0	31	89		
NCAM2	4685	broad.mit.edu	37	21	22910264	22910264	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:22910264G>C	ENST00000400546.1	+	18	2749	c.2500G>C	c.(2500-2502)Gac>Cac	p.D834H	NCAM2_ENST00000284894.7_Missense_Mutation_p.D692H	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	834					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D834H(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAAAGAAGACGACAGCAAAGC	0.358																																						uc002yld.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(2500-2502)GAC>CAC		neural cell adhesion molecule 2 precursor							52.0	52.0	52.0					21																	22910264		1850	4086	5936	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22910264G>C		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2500G>C	21.37:g.22910264G>C	ENSP00000383392:p.Asp834His					NCAM2_uc011acb.1_Missense_Mutation_p.D692H	p.D834H	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	18	2749	+		Lung NSC(9;0.195)	834			Cytoplasmic (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.2500G>C	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249399	0.59103	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.63255	-0.03;0.05	5.13	5.13	0.70059	.	0.084654	0.85682	D	0.000000	T	0.76990	0.4065	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78267	-0.2270	10	0.72032	D	0.01	-25.7703	18.0204	0.89253	0.0:0.0:1.0:0.0	.	692;834	B7Z5K2;O15394	.;NCAM2_HUMAN	H	834;692	ENSP00000383392:D834H;ENSP00000284894:D692H	ENSP00000284894:D692H	D	+	1	0	NCAM2	21832135	1.000000	0.71417	0.999000	0.59377	0.351000	0.29236	5.451000	0.66632	2.774000	0.95407	0.585000	0.79938	GAC		0.358	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1		NM_004540		10	64	0	0	0	0.006214	0	10	64		
KRTAP13-2	337959	broad.mit.edu	37	21	31744044	31744044	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:31744044C>G	ENST00000399889.2	-	1	513	c.488G>C	c.(487-489)aGa>aCa	p.R163T		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	163						intermediate filament (GO:0005882)		p.R163T(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						ATAGGCTGGTCTGTAACAAGG	0.493																																						uc002ynz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(487-489)AGA>ACA		keratin associated protein 13-2							72.0	67.0	69.0					21																	31744044		2203	4300	6503	SO:0001583	missense	337959					intermediate filament		g.chr21:31744044C>G	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.488G>C	21.37:g.31744044C>G	ENSP00000382777:p.Arg163Thr						p.R163T	NM_181621	NP_853652	Q52LG2	KR132_HUMAN			1	514	-			163						Missense_Mutation	SNP	ENST00000399889.2	37	c.488G>C	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441180	0.63067	.	.	ENSG00000182816	ENST00000399889	T	0.04083	3.71	5.02	5.02	0.67125	.	0.720289	0.11444	N	0.563469	T	0.19886	0.0478	M	0.70595	2.14	0.23515	N	0.997518	D	0.60575	0.988	D	0.65140	0.932	T	0.03795	-1.1003	10	0.52906	T	0.07	.	14.5607	0.68133	0.0:1.0:0.0:0.0	.	163	Q52LG2	KR132_HUMAN	T	163	ENSP00000382777:R163T	ENSP00000382777:R163T	R	-	2	0	KRTAP13-2	30665915	0.058000	0.20735	0.619000	0.29118	0.711000	0.40976	1.159000	0.31749	2.695000	0.91970	0.655000	0.94253	AGA		0.493	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1				12	47	0	0	0	0.006122	0	12	47		
TRAPPC10	7109	broad.mit.edu	37	21	45514011	45514011	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:45514011C>G	ENST00000291574.4	+	20	3240	c.3065C>G	c.(3064-3066)tCt>tGt	p.S1022C	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1022					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.S1022C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CCTCCCCCTTCTCTGCATTGC	0.478																																						uc002zea.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(3064-3066)TCT>TGT		trafficking protein particle complex 10							143.0	133.0	136.0					21																	45514011		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45514011C>G	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3065C>G	21.37:g.45514011C>G	ENSP00000291574:p.Ser1022Cys					TRAPPC10_uc010gpo.2_Missense_Mutation_p.S733C|TRAPPC10_uc011afa.1_Missense_Mutation_p.S400C|TRAPPC10_uc011afb.1_Missense_Mutation_p.S127C	p.S1022C	NM_003274	NP_003265	P48553	TPC10_HUMAN			20	3234	+			1022					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.3065C>G	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	8.923	0.961642	0.18583	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.23754	1.89	5.11	5.11	0.69529	.	0.523117	0.22365	N	0.061023	T	0.22437	0.0541	L	0.27053	0.805	0.20196	N	0.999926	B;B;B	0.23128	0.08;0.005;0.001	B;B;B	0.20184	0.028;0.025;0.004	T	0.14476	-1.0471	10	0.46703	T	0.11	.	18.911	0.92485	0.0:1.0:0.0:0.0	.	127;281;1022	B4DV34;B4DI17;P48553	.;.;TPC10_HUMAN	C	1022;153	ENSP00000291574:S1022C	ENSP00000291574:S1022C	S	+	2	0	TRAPPC10	44338439	0.309000	0.24518	0.046000	0.18839	0.392000	0.30506	3.534000	0.53568	2.529000	0.85273	0.655000	0.94253	TCT		0.478	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1		NM_003274		39	176	0	0	0	0.009718	0	39	176		
TRAPPC10	7109	broad.mit.edu	37	21	45514050	45514050	+	Missense_Mutation	SNP	C	C	G	rs374120077		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:45514050C>G	ENST00000291574.4	+	20	3279	c.3104C>G	c.(3103-3105)tCt>tGt	p.S1035C	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1035					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.S1035C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TCCCCAGCTTCTGAGGAACAG	0.448																																						uc002zea.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(3103-3105)TCT>TGT		trafficking protein particle complex 10							124.0	123.0	124.0					21																	45514050		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45514050C>G	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3104C>G	21.37:g.45514050C>G	ENSP00000291574:p.Ser1035Cys					TRAPPC10_uc010gpo.2_Missense_Mutation_p.S746C|TRAPPC10_uc011afa.1_Missense_Mutation_p.S413C|TRAPPC10_uc011afb.1_Missense_Mutation_p.S140C	p.S1035C	NM_003274	NP_003265	P48553	TPC10_HUMAN			20	3273	+			1035					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.3104C>G	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761191	0.31137	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.25414	1.8	5.11	4.23	0.50019	.	0.432806	0.27618	N	0.018579	T	0.32436	0.0829	L	0.27053	0.805	0.09310	N	1	D;P;P	0.57571	0.98;0.905;0.831	P;P;P	0.56127	0.792;0.72;0.635	T	0.16129	-1.0413	10	0.54805	T	0.06	.	16.1016	0.81175	0.0:0.8659:0.1341:0.0	.	140;294;1035	B4DV34;B4DI17;P48553	.;.;TPC10_HUMAN	C	1035;166	ENSP00000291574:S1035C	ENSP00000291574:S1035C	S	+	2	0	TRAPPC10	44338478	0.882000	0.30256	0.013000	0.15412	0.087000	0.18053	2.636000	0.46545	1.289000	0.44618	-0.127000	0.14921	TCT		0.448	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1		NM_003274		40	181	0	0	0	0.010771	0	40	181		
TRAPPC10	7109	broad.mit.edu	37	21	45518306	45518306	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:45518306C>G	ENST00000291574.4	+	21	3412	c.3237C>G	c.(3235-3237)ctC>ctG	p.L1079L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1079					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.L1079L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGGCTCCCTCTGCTCCCTGG	0.473																																						uc002zea.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(3235-3237)CTC>CTG		trafficking protein particle complex 10							153.0	150.0	151.0					21																	45518306		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45518306C>G	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3237C>G	21.37:g.45518306C>G						TRAPPC10_uc010gpo.2_Silent_p.L790L|TRAPPC10_uc011afa.1_Silent_p.L457L|TRAPPC10_uc011afb.1_Silent_p.L184L	p.L1079L	NM_003274	NP_003265	P48553	TPC10_HUMAN			21	3406	+			1079					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.3237C>G	CCDS13704.1																																																																																				0.473	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1		NM_003274		54	188	0	0	0	0.01441	0	54	188		
AIRE	326	broad.mit.edu	37	21	45706995	45706995	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:45706995C>G	ENST00000291582.5	+	3	569	c.442C>G	c.(442-444)Cca>Gca	p.P148A		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	148					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)	p.P148A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		AGCCCTGACTCCAAGGGGCAC	0.716									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													uc002zei.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(442-444)CCA>GCA		autoimmune regulator isoform 1							16.0	23.0	21.0					21																	45706995		2153	4225	6378	SO:0001583	missense	326	Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45706995C>G	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.442C>G	21.37:g.45706995C>G	ENSP00000291582:p.Pro148Ala						p.P148A	NM_000383	NP_000374	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	3	569	+			148					B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	c.442C>G	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.714447	0.00706	.	.	ENSG00000160224	ENST00000291582	D	0.96587	-4.06	3.8	1.14	0.20703	.	0.552015	0.15256	N	0.272067	D	0.91415	0.7291	L	0.56769	1.78	0.09310	N	0.999999	P	0.37441	0.595	B	0.34931	0.192	T	0.81777	-0.0777	10	0.10111	T	0.7	-27.2467	3.15	0.06484	0.0:0.5193:0.2565:0.2242	.	148	O43918	AIRE_HUMAN	A	148	ENSP00000291582:P148A	ENSP00000291582:P148A	P	+	1	0	AIRE	44531423	0.000000	0.05858	0.127000	0.21898	0.019000	0.09904	-0.221000	0.09202	0.601000	0.29879	0.543000	0.68304	CCA		0.716	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2				4	23	0	0	0	0.008291	0	4	23		
PEX26	55670	broad.mit.edu	37	22	18566266	18566266	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:18566266C>T	ENST00000329627.7	+	4	641	c.435C>T	c.(433-435)ctC>ctT	p.L145L	PEX26_ENST00000399744.3_Silent_p.L145L|PEX26_ENST00000428061.2_Silent_p.L145L	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	145					protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.L145L(1)		breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GTGCCTGGCTCCAAGACCCAG	0.527																																						uc002znp.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(433-435)CTC>CTT		peroxisome biogenesis factor 26							84.0	100.0	95.0					22																	18566266		2203	4300	6503	SO:0001819	synonymous_variant	55670				protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding	g.chr22:18566266C>T	AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"""peroxisome biogenesis factor 26"""			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.435C>T	22.37:g.18566266C>T						TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Silent_p.L145L|PEX26_uc002znt.2_Silent_p.L145L	p.L145L	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN			4	644	+			145			Cytoplasmic (Potential).		F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Silent	SNP	ENST00000329627.7	37	c.435C>T	CCDS13750.1																																																																																				0.527	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3		NM_017929		45	175	0	0	0	0.00874	0	45	175		
ZNF70	7621	broad.mit.edu	37	22	24086954	24086954	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:24086954G>C	ENST00000341976.3	-	2	834	c.374C>G	c.(373-375)tCa>tGa	p.S125*		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	125					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.S125*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GTTAGGTCCTGAGTCCCCTCT	0.562																																						uc002zxs.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)	2						c.(373-375)TCA>TGA		zinc finger protein 70							199.0	163.0	175.0					22																	24086954		2203	4300	6503	SO:0001587	stop_gained	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086954G>C	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.374C>G	22.37:g.24086954G>C	ENSP00000339314:p.Ser125*					ZNF70_uc002zxr.1_5'Flank	p.S125*	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN			2	835	-			125						Nonsense_Mutation	SNP	ENST00000341976.3	37	c.374C>G	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057048	0.76074	.	.	ENSG00000187792	ENST00000341976	.	.	.	4.03	-3.02	0.05446	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	0.6132	8.6333	0.33933	0.576:0.0:0.424:0.0	.	.	.	.	X	125	.	ENSP00000339314:S125X	S	-	2	0	ZNF70	22416954	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.121000	0.15667	-0.455000	0.07054	0.650000	0.86243	TCA		0.562	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1		NM_021916		44	159	0	0	0	0.01441	0	44	159		
CRYBB1	1414	broad.mit.edu	37	22	27003913	27003914	+	Missense_Mutation	DNP	CC	CC	AT	rs141811471		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:27003913_27003914CC>AT	ENST00000215939.2	-	4	501_502	c.371_372GG>AT	c.(370-372)tGG>tAT	p.W124Y		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	124	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.W124C(1)|p.W124*(1)|p.W124Y(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						ACCATGTGTTCCAGCGAGGGTA	0.594																																						uc003acy.1		NaN																	3	Substitution - Missense(2)|Substitution - Nonsense(1)		urinary_tract(3)	ovary(1)	1						c.(370-372)TGG>TAT		crystallin, beta B1																																				SO:0001583	missense	1414				visual perception		structural constituent of eye lens	g.chr22:27003913_27003914CC>AT		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.371_372delinsAT	22.37:g.27003913_27003914delinsAT	ENSP00000215939:p.Trp124Tyr						p.W124Y	NM_001887	NP_001878	P53674	CRBB1_HUMAN			4	441_442	-			124			Beta/gamma crystallin 'Greek key' 2.			Missense_Mutation	DNP	ENST00000215939.2	37	c.371_372GG>AT	CCDS13840.1																																																																																				0.594	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1		NM_001887		21	53	0	0	0	0.004672	0	21	53		
AP1B1	162	broad.mit.edu	37	22	29752417	29752417	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:29752417C>T	ENST00000405198.1	-	5	745	c.714G>A	c.(712-714)caG>caA	p.Q238Q	AP1B1_ENST00000402502.1_Silent_p.Q238Q|AP1B1_ENST00000432560.2_Silent_p.Q238Q|AP1B1_ENST00000356015.2_Silent_p.Q238Q|AP1B1_ENST00000317368.7_Silent_p.Q238Q|AP1B1_ENST00000415447.1_Silent_p.Q238Q|AP1B1_ENST00000357586.2_Silent_p.Q238Q			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	238					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.Q238Q(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCGCTCACCTCTGGGCCTCGC	0.637																																						uc003afj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(712-714)CAG>CAA		adaptor-related protein complex 1 beta 1 subunit							39.0	34.0	35.0					22																	29752417		2203	4300	6503	SO:0001819	synonymous_variant	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29752417C>T	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.714G>A	22.37:g.29752417C>T						AP1B1_uc003afi.2_Silent_p.Q238Q|AP1B1_uc003afk.2_Silent_p.Q238Q|AP1B1_uc003afl.2_Silent_p.Q238Q	p.Q238Q	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			6	898	-			238					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	ENST00000405198.1	37	c.714G>A	CCDS13855.1																																																																																				0.637	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1		NM_001127		11	23	0	0	0	0.010729	0	11	23		
ASCC2	84164	broad.mit.edu	37	22	30188508	30188508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:30188508G>A	ENST00000397771.2	-	19	2113	c.1936C>T	c.(1936-1938)Cag>Tag	p.Q646*	ASCC2_ENST00000542393.1_Nonsense_Mutation_p.Q570*|ASCC2_ENST00000307790.3_Nonsense_Mutation_p.Q646*			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	646					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.Q646*(1)		endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CTCAGCACCTGAGGGATGGTG	0.562																																						uc003agr.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(1936-1938)CAG>TAG		activating signal cointegrator 1 complex subunit							324.0	283.0	297.0					22																	30188508		2203	4300	6503	SO:0001587	stop_gained	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30188508G>A	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1936C>T	22.37:g.30188508G>A	ENSP00000380877:p.Gln646*					ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Nonsense_Mutation_p.Q646*|ASCC2_uc011akr.1_Nonsense_Mutation_p.Q570*	p.Q646*	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		18	2041	-			646					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Nonsense_Mutation	SNP	ENST00000397771.2	37	c.1936C>T	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	G	39	7.785186	0.98489	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	.	.	.	5.32	5.32	0.75619	.	0.055576	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-21.4899	17.9377	0.89018	0.0:0.0:1.0:0.0	.	.	.	.	X	646;646;570	.	ENSP00000305502:Q646X	Q	-	1	0	ASCC2	28518508	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.371000	0.73119	2.651000	0.90000	0.563000	0.77884	CAG		0.562	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1		NM_032204		39	484	0	0	0	0.009718	0	39	484		
ELFN2	114794	broad.mit.edu	37	22	37770273	37770273	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:37770273G>A	ENST00000402918.2	-	3	2087	c.1302C>T	c.(1300-1302)gtC>gtT	p.V434V	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	434					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.V434V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGGTCTTCTTGACGTTGACAG	0.617																																						uc003asq.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1300-1302)GTC>GTT		leucine rich repeat containing 62							154.0	147.0	149.0					22																	37770273		2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37770273G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1302C>T	22.37:g.37770273G>A							p.V434V	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	2088	-	Melanoma(58;0.0574)		434			Cytoplasmic (Potential).		Q96PY3	Silent	SNP	ENST00000402918.2	37	c.1302C>T	CCDS33642.1																																																																																				0.617	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2		NM_052906		58	197	0	0	0	0.01441	0	58	197		
EIF3L	51386	broad.mit.edu	37	22	38273809	38273809	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:38273809G>C	ENST00000412331.2	+	11	1788	c.1206G>C	c.(1204-1206)caG>caC	p.Q402H	EIF3L_ENST00000406934.1_Missense_Mutation_p.Q304H|EIF3L_ENST00000381683.6_Missense_Mutation_p.Q354H	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L									p.Q402H(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGCGCATGCAGAAAGGTGACC	0.517																																						uc003auf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1204-1206)CAG>CAC		eukaryotic translation initiation factor 3							101.0	81.0	88.0					22																	38273809		2203	4300	6503	SO:0001583	missense	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38273809G>C	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1206G>C	22.37:g.38273809G>C	ENSP00000416892:p.Gln402His					EIF3L_uc003aue.1_Missense_Mutation_p.Q402H|EIF3L_uc011ann.1_Missense_Mutation_p.Q354H|EIF3L_uc003aug.2_Missense_Mutation_p.Q294H|EIF3L_uc003auh.2_Missense_Mutation_p.Q135H	p.Q402H	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN			11	1293	+			402						Missense_Mutation	SNP	ENST00000412331.2	37	c.1206G>C	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	g	18.39	3.613114	0.66672	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.50001	0.76;0.76;0.76	4.94	4.94	0.65067	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.997;1.0;1.0	T	0.73886	-0.3841	10	0.66056	D	0.02	-24.217	11.2929	0.49261	0.0851:0.0:0.9149:0.0	.	354;304;402;445	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	H	402;445;354;369;304	ENSP00000416892:Q402H;ENSP00000371099:Q354H;ENSP00000384634:Q304H	ENSP00000262832:Q369H	Q	+	3	2	EIF3L	36603755	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.868000	0.63021	2.436000	0.82500	0.436000	0.28706	CAG		0.517	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2		NM_016091		25	80	0	0	0	0.004656	0	25	80		
MKL1	57591	broad.mit.edu	37	22	40815081	40815081	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:40815081G>C	ENST00000355630.3	-	12	1951	c.1361C>G	c.(1360-1362)tCt>tGt	p.S454C	MKL1_ENST00000407029.1_Missense_Mutation_p.S454C|MKL1_ENST00000402042.1_Missense_Mutation_p.S404C|MKL1_ENST00000396617.3_Missense_Mutation_p.S454C	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	454					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S454C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGGGGTGGGAGACACGGGGGG	0.667			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1		NaN		Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1360-1362)TCT>TGT		megakaryoblastic leukemia 1 protein							16.0	14.0	15.0					22																	40815081		2199	4293	6492	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40815081G>C	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1361C>G	22.37:g.40815081G>C	ENSP00000347847:p.Ser454Cys					MKL1_uc003ayw.1_Missense_Mutation_p.S454C|MKL1_uc010gye.1_Missense_Mutation_p.S454C|MKL1_uc010gyf.1_Missense_Mutation_p.S404C	p.S454C	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			9	1568	-			454					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1361C>G	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507528	0.64410	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.71341	-0.43;-0.54;-0.56;-0.43	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.88190	0.6370	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.993;0.993	D	0.90910	0.4775	10	0.87932	D	0	-22.555	18.5688	0.91128	0.0:0.0:1.0:0.0	.	404;454;454	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	C	454;454;404;454	ENSP00000347847:S454C;ENSP00000379861:S454C;ENSP00000385584:S404C;ENSP00000385835:S454C	ENSP00000347847:S454C	S	-	2	0	MKL1	39145027	1.000000	0.71417	0.979000	0.43373	0.157000	0.22087	9.651000	0.98493	2.613000	0.88420	0.655000	0.94253	TCT		0.667	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1		NM_020831		4	18	0	0	0	0.009096	0	4	18		
L3MBTL2	83746	broad.mit.edu	37	22	41626166	41626166	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:41626166G>C	ENST00000216237.5	+	17	2187	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q	CHADL_ENST00000216241.9_Intron	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	677					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E677Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGTGAAGGAAGAGCATCTAGA	0.602																																						uc003azo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(2029-2031)GAG>CAG		l(3)mbt-like 2							75.0	66.0	69.0					22																	41626166		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41626166G>C	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.2029G>C	22.37:g.41626166G>C	ENSP00000216237:p.Glu677Gln					L3MBTL2_uc003azn.2_RNA|CHADL_uc003azq.3_Intron|CHADL_uc010gyj.2_Intron	p.E677Q	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN			17	2083	+			677					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.2029G>C	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522531	0.64747	.	.	ENSG00000100395	ENST00000216237	T	0.25085	1.82	5.0	3.97	0.46021	.	0.182943	0.46758	D	0.000277	T	0.28001	0.0690	N	0.24115	0.695	0.47698	D	0.999491	D	0.61697	0.99	P	0.54238	0.746	T	0.03761	-1.1006	10	0.49607	T	0.09	.	12.9022	0.58130	0.0:0.0:0.8368:0.1632	.	677	Q969R5	LMBL2_HUMAN	Q	677	ENSP00000216237:E677Q	ENSP00000216237:E677Q	E	+	1	0	L3MBTL2	39956112	1.000000	0.71417	0.667000	0.29798	0.011000	0.07611	4.337000	0.59310	1.397000	0.46682	-0.188000	0.12872	GAG		0.602	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1		NM_031488		20	74	0	0	0	0.008871	0	20	74		
RIBC2	26150	broad.mit.edu	37	22	45818177	45818177	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:45818177C>T	ENST00000342894.3	+	4	759	c.345C>T	c.(343-345)ctC>ctT	p.L115L	RIBC2_ENST00000466226.1_3'UTR|RIBC2_ENST00000538017.1_Silent_p.L183L			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	115						nucleus (GO:0005634)		p.L115L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAGAGGCCCTCTACACAGAGA	0.547																																						uc011aqs.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(547-549)CTC>CTT		RIB43A domain with coiled-coils 2							194.0	181.0	185.0					22																	45818177		2203	4300	6503	SO:0001819	synonymous_variant	26150							g.chr22:45818177C>T	AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 11"""	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.345C>T	22.37:g.45818177C>T							p.L183L	NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	758	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	115					Q6ICD0|Q9Y413	Silent	SNP	ENST00000342894.3	37	c.549C>T																																																																																					0.547	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1		NM_015653		68	225	0	0	0	0.01441	0	68	225		
GTSE1	51512	broad.mit.edu	37	22	46693369	46693369	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:46693369G>A	ENST00000454366.1	+	2	284	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	5	Poly-Ser.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.K24K(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		ATGACCCTAAGAAGGAAGGCA	0.547																																					GBM(153;542 1915 12487 29016 50495)	uc011aqy.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(70-72)AAG>AAA		G-2 and S-phase expressed 1							195.0	163.0	173.0					22																	46693369		2203	4300	6503	SO:0001819	synonymous_variant	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46693369G>A	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.72G>A	22.37:g.46693369G>A						CN5H6.4_uc003bhj.3_5'Flank|GTSE1_uc011aqz.1_5'UTR	p.K24K	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	2	284	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	5					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Silent	SNP	ENST00000454366.1	37	c.72G>A	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	5.708	0.315162	0.10789	.	.	ENSG00000075218	ENST00000361934	.	.	.	2.48	1.38	0.22167	.	.	.	.	.	T	0.37732	0.1014	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.32348	-0.9910	5	0.56958	D	0.05	0.9871	5.6511	0.17616	0.1634:0.0:0.8366:0.0	.	.	.	.	K	4	.	ENSP00000354634:R4K	R	+	2	0	GTSE1	45072033	0.127000	0.22367	0.006000	0.13384	0.031000	0.12232	0.472000	0.22116	0.560000	0.29169	0.462000	0.41574	AGA		0.547	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2		NM_016426		23	97	0	0	0	0.008361	0	23	97		
PLXNB2	23654	broad.mit.edu	37	22	50721499	50721499	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:50721499G>A	ENST00000449103.1	-	17	2936	c.2796C>T	c.(2794-2796)ctC>ctT	p.L932L	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Silent_p.L932L			O15031	PLXB2_HUMAN	plexin B2	932	IPT/TIG 2.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.L975L(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGACGCCGTTGAGGGTCACCC	0.677																																						uc003bkv.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2794-2796)CTC>CTT		plexin B2 precursor							20.0	26.0	24.0					22																	50721499		2033	4182	6215	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50721499G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2796C>T	22.37:g.50721499G>A						PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	p.L932L	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	17	2902	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	932			Extracellular (Potential).|IPT/TIG 2.		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.2796C>T	CCDS43035.1																																																																																				0.677	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3		NM_012401		11	17	0	0	0	0.010729	0	11	17		
CHKB	1120	broad.mit.edu	37	22	51020725	51020725	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:51020725C>T	ENST00000406938.2	-	2	503	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CPT1B_ENST00000434492.2_5'Flank|CHKB_ENST00000463053.1_5'UTR|CHKB-AS1_ENST00000380711.3_RNA|CHKB-CPT1B_ENST00000453634.1_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	96					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)	p.E96K(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	CGGGGCTCCTCGCCAACGCTG	0.701																																						uc003bms.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(286-288)GAG>AAG		choline kinase beta	Choline(DB00122)						14.0	15.0	15.0					22																	51020725		2184	4283	6467	SO:0001583	missense	1120				phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr22:51020725C>T	AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.286G>A	22.37:g.51020725C>T	ENSP00000384400:p.Glu96Lys					CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_5'UTR|CHKB-CPT1B_uc003bmu.2_5'UTR|CHKB_uc003bmv.2_Missense_Mutation_p.E96K|LOC100144603_uc003bmw.3_5'Flank	p.E96K	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	2	504	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	96					A0PJM6|Q13388	Missense_Mutation	SNP	ENST00000406938.2	37	c.286G>A	CCDS14099.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283917	0.59867	.	.	ENSG00000100288	ENST00000406938	T	0.56941	0.43	5.12	2.99	0.34606	Protein kinase-like domain (1);	0.613803	0.16126	N	0.228390	T	0.24044	0.0582	N	0.08118	0	0.29432	N	0.859784	B	0.09022	0.002	B	0.04013	0.001	T	0.26710	-1.0095	10	0.06236	T	0.91	-2.5684	5.3506	0.16034	0.0:0.6502:0.1686:0.1812	.	96	Q9Y259	CHKB_HUMAN	K	96	ENSP00000384400:E96K	ENSP00000384400:E96K	E	-	1	0	CHKB	49367591	0.381000	0.25140	1.000000	0.80357	0.899000	0.52679	3.306000	0.51881	0.532000	0.28657	0.557000	0.71058	GAG		0.701	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3		NM_005198		3	8	0	0	0	0.004672	0	3	8		
FANCD2	2177	broad.mit.edu	37	3	10089620	10089620	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:10089620C>T	ENST00000419585.1	+	16	1459	c.1298C>T	c.(1297-1299)tCa>tTa	p.S433L	FANCD2_ENST00000287647.3_Missense_Mutation_p.S433L|FANCD2_ENST00000383807.1_Missense_Mutation_p.S433L|FANCD2_ENST00000383806.1_Missense_Mutation_p.S433L			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	433					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.S433L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GATATGTGTTCATCCATTCTG	0.393			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2		NaN	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1297-1299)TCA>TTA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							171.0	175.0	174.0					3																	10089620		2203	4300	6503	SO:0001583	missense	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10089620C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1298C>T	3.37:g.10089620C>T	ENSP00000398754:p.Ser433Leu					FANCD2_uc003bux.1_Missense_Mutation_p.S433L|FANCD2_uc003buy.1_Missense_Mutation_p.S433L|FANCD2_uc010hcw.1_5'Flank	p.S433L	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	16	1376	+			433					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.1298C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004161	0.54254	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.65	5.65	0.86999	.	0.158548	0.56097	D	0.000021	T	0.36441	0.0967	N	0.14661	0.345	0.30817	N	0.738208	B;B	0.28850	0.225;0.225	B;B	0.31869	0.137;0.137	T	0.44651	-0.9314	10	0.54805	T	0.06	.	17.2216	0.86959	0.0:1.0:0.0:0.0	.	433;433	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	L	433	ENSP00000287647:S433L;ENSP00000373318:S433L;ENSP00000373317:S433L;ENSP00000398754:S433L	ENSP00000287647:S433L	S	+	2	0	FANCD2	10064620	1.000000	0.71417	0.925000	0.36789	0.259000	0.26198	3.483000	0.53194	2.656000	0.90262	0.591000	0.81541	TCA		0.393	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1				51	283	0	0	0	0.01441	0	51	283		
FANCD2	2177	broad.mit.edu	37	3	10091133	10091133	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:10091133C>G	ENST00000419585.1	+	17	1650	c.1489C>G	c.(1489-1491)Cta>Gta	p.L497V	FANCD2_ENST00000287647.3_Missense_Mutation_p.L497V|FANCD2_ENST00000383807.1_Missense_Mutation_p.L497V|FANCD2_ENST00000383806.1_Missense_Mutation_p.L497V			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	497					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.L497V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGATGTCCTTCTAGAGTTGGT	0.398			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2		NaN	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1489-1491)CTA>GTA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							246.0	259.0	255.0					3																	10091133		2203	4300	6503	SO:0001583	missense	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10091133C>G	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1489C>G	3.37:g.10091133C>G	ENSP00000398754:p.Leu497Val					FANCD2_uc003bux.1_Missense_Mutation_p.L497V|FANCD2_uc003buy.1_Missense_Mutation_p.L497V|FANCD2_uc010hcw.1_RNA	p.L497V	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	17	1567	+			497					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.1489C>G	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	0.239	-1.014869	0.02078	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.69306	0.79;0.79;-0.39;0.79	5.59	2.43	0.29744	.	0.452244	0.23598	N	0.046476	T	0.45895	0.1365	L	0.43923	1.385	0.09310	N	1	P;P	0.42692	0.787;0.787	B;B	0.36567	0.228;0.228	T	0.27468	-1.0073	10	0.12766	T	0.61	.	2.8438	0.05537	0.1992:0.4547:0.0:0.3461	.	497;497	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	V	497	ENSP00000287647:L497V;ENSP00000373318:L497V;ENSP00000373317:L497V;ENSP00000398754:L497V	ENSP00000287647:L497V	L	+	1	2	FANCD2	10066133	0.071000	0.21146	0.263000	0.24496	0.136000	0.21042	1.346000	0.33964	0.754000	0.32968	0.579000	0.79373	CTA		0.398	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1				70	254	0	0	0	0.01441	0	70	254		
NUP210	23225	broad.mit.edu	37	3	13393439	13393439	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:13393439G>C	ENST00000254508.5	-	20	2857	c.2775C>G	c.(2773-2775)ctC>ctG	p.L925L		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	925					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)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.L925L(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGCTGGTGTTGAGGAAGAAGT	0.617																																						uc003bxv.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(2773-2775)CTC>CTG		nucleoporin 210 precursor							128.0	105.0	113.0					3																	13393439		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13393439G>C	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.2775C>G	3.37:g.13393439G>C						NUP210_uc003bxw.2_Silent_p.L101L|NUP210_uc003bxx.2_Silent_p.L597L	p.L925L	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			20	2858	-	all_neural(104;0.187)		925			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.2775C>G	CCDS33704.1																																																																																				0.617	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1		NM_024923		20	72	0	0	0	0.008871	0	20	72		
TBC1D5	9779	broad.mit.edu	37	3	17300041	17300041	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:17300041C>G	ENST00000253692.7	-	16	2952	c.1288G>C	c.(1288-1290)Gat>Cat	p.D430H	TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.D430H|TBC1D5_ENST00000429383.4_Missense_Mutation_p.D430H|TBC1D5_ENST00000429924.2_Missense_Mutation_p.D382H	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	430						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)	p.D430H(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TTGTAATAATCTAAATTTGGA	0.308																																						uc003cbf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1288-1290)GAT>CAT		TBC1 domain family, member 5 isoform b							123.0	133.0	130.0					3																	17300041		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17300041C>G	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1288G>C	3.37:g.17300041C>G	ENSP00000253692:p.Asp430His					TBC1D5_uc010heu.2_Missense_Mutation_p.D17H|TBC1D5_uc010hev.2_Missense_Mutation_p.D430H|TBC1D5_uc003cbe.2_Missense_Mutation_p.D430H|TBC1D5_uc010hew.1_Missense_Mutation_p.D382H	p.D430H	NM_014744	NP_055559	Q92609	TBCD5_HUMAN			16	2953	-			430					A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.1288G>C	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.621155	0.66787	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.52057	1.3;1.3;1.23;0.68	5.77	5.77	0.91146	.	0.044691	0.85682	D	0.000000	T	0.58323	0.2114	L	0.55481	1.735	0.80722	D	1	P;P;D;D	0.55605	0.523;0.736;0.972;0.972	B;B;P;P	0.51833	0.332;0.429;0.681;0.681	T	0.58340	-0.7653	10	0.56958	D	0.05	-23.6079	19.9859	0.97351	0.0:1.0:0.0:0.0	.	382;430;430;430	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	H	430;430;430;382	ENSP00000253692:D430H;ENSP00000398127:D430H;ENSP00000402935:D430H;ENSP00000411925:D382H	ENSP00000253692:D430H	D	-	1	0	TBC1D5	17275045	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.168000	0.71908	2.729000	0.93468	0.655000	0.94253	GAT		0.308	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3		NM_014744		62	208	0	0	0	0.01441	0	62	208		
KAT2B	8850	broad.mit.edu	37	3	20082225	20082225	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:20082225C>G	ENST00000263754.4	+	1	711	c.256C>G	c.(256-258)Ccg>Gcg	p.P86A	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	86					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.P86A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						ACGCTCCGCTCCGCGGGCCAA	0.706																																						uc003cbq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(256-258)CCG>GCG		K(lysine) acetyltransferase 2B							13.0	15.0	14.0					3																	20082225		2116	4148	6264	SO:0001583	missense	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20082225C>G	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.256C>G	3.37:g.20082225C>G	ENSP00000263754:p.Pro86Ala						p.P86A	NM_003884	NP_003875	Q92831	KAT2B_HUMAN			1	702	+			86					Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	c.256C>G	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818570	0.71028	.	.	ENSG00000114166	ENST00000263754	T	0.29397	1.57	3.03	3.03	0.35002	PCAF, N-terminal (1);	0.000000	0.64402	U	0.000001	T	0.53578	0.1805	M	0.79475	2.455	0.58432	D	0.999999	D	0.71674	0.998	D	0.71414	0.973	T	0.61053	-0.7140	10	0.66056	D	0.02	-0.1099	13.1178	0.59309	0.0:1.0:0.0:0.0	.	86	Q92831	KAT2B_HUMAN	A	86	ENSP00000263754:P86A	ENSP00000263754:P86A	P	+	1	0	KAT2B	20057229	1.000000	0.71417	0.948000	0.38648	0.375000	0.29983	5.521000	0.67086	1.405000	0.46838	0.456000	0.33151	CCG		0.706	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1		NM_003884		4	27	0	0	0	0.000602	0	4	27		
AZI2	64343	broad.mit.edu	37	3	28381983	28381983	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:28381983G>A	ENST00000479665.1	-	2	657	c.126C>T	c.(124-126)gtC>gtT	p.V42V	AZI2_ENST00000334100.6_Silent_p.V42V|AZI2_ENST00000457172.1_Silent_p.V42V|AZI2_ENST00000420543.2_Silent_p.V42V|AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	42	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)		p.V42V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						CATATGCAGTGACAAGAGCAA	0.333																																						uc003ceb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(124-126)GTC>GTT		5-azacytidine induced 2 isoform a							97.0	95.0	96.0					3																	28381983		2203	4300	6503	SO:0001819	synonymous_variant	64343					mitochondrion|plasma membrane		g.chr3:28381983G>A	AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.126C>T	3.37:g.28381983G>A						AZI2_uc003cec.2_5'UTR|AZI2_uc003ced.2_Silent_p.V42V|AZI2_uc003cee.3_Silent_p.V42V|AZI2_uc003ceg.2_Silent_p.V42V|AZI2_uc011axd.1_Silent_p.V42V|AZI2_uc003cef.2_Silent_p.V42V	p.V42V	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN			2	658	-			42			Potential.		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Silent	SNP	ENST00000479665.1	37	c.126C>T	CCDS2647.1																																																																																				0.333	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2		NM_203326		29	95	0	0	0	0.005443	0	29	95		
UBP1	7342	broad.mit.edu	37	3	33450953	33450953	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:33450953G>C	ENST00000283629.3	-	6	1225	c.696C>G	c.(694-696)atC>atG	p.I232M	UBP1_ENST00000447368.2_Missense_Mutation_p.I232M|UBP1_ENST00000283628.5_Missense_Mutation_p.I232M|UBP1_ENST00000486388.1_5'Flank	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	232					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.I232M(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TAAAAACTTTGATTTGGCAGC	0.418																																						uc003cfq.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(2)	2						c.(694-696)ATC>ATG		upstream binding protein 1 (LBP-1a) isoform a							130.0	127.0	128.0					3																	33450953		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33450953G>C	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.696C>G	3.37:g.33450953G>C	ENSP00000283629:p.Ile232Met					UBP1_uc003cfr.3_Missense_Mutation_p.I232M|UBP1_uc010hga.2_Missense_Mutation_p.I232M	p.I232M	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN			6	1226	-			232					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.696C>G	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167251	0.57476	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.24538	1.85;1.85;1.85	6.17	4.4	0.53042	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	M	0.82630	2.6	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.983	T	0.54173	-0.8333	10	0.87932	D	0	-15.6311	9.5509	0.39310	0.1244:0.0:0.7576:0.118	.	232;232	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	M	232	ENSP00000283629:I232M;ENSP00000395558:I232M;ENSP00000283628:I232M	ENSP00000283628:I232M	I	-	3	3	UBP1	33425957	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.426000	0.44731	0.947000	0.37659	-0.152000	0.13540	ATC		0.418	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2		NM_014517		45	142	0	0	0	0.011902	0	45	142		
UBP1	7342	broad.mit.edu	37	3	33458292	33458292	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:33458292C>G	ENST00000283629.3	-	3	829	c.300G>C	c.(298-300)cgG>cgC	p.R100R	RNU7-110P_ENST00000516891.1_RNA|UBP1_ENST00000447368.2_Silent_p.R100R|UBP1_ENST00000283628.5_Silent_p.R100R	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	100					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R100R(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CACCCATTTTCCGATTATCCA	0.318																																						uc003cfq.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	kidney(2)	2						c.(298-300)CGG>CGC		upstream binding protein 1 (LBP-1a) isoform a							105.0	107.0	106.0					3																	33458292		2203	4298	6501	SO:0001819	synonymous_variant	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33458292C>G	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.300G>C	3.37:g.33458292C>G						UBP1_uc003cfr.3_Silent_p.R100R|UBP1_uc010hga.2_Silent_p.R100R	p.R100R	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN			3	830	-			100					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Silent	SNP	ENST00000283629.3	37	c.300G>C	CCDS2659.1																																																																																				0.318	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2		NM_014517		27	79	0	0	0	0.007291	0	27	79		
SCN11A	11280	broad.mit.edu	37	3	38921615	38921615	+	Splice_Site	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:38921615C>G	ENST00000302328.3	-	19	3418		c.e19-1		SCN11A_ENST00000456224.3_Splice_Site|SCN11A_ENST00000450244.1_Splice_Site|SCN11A_ENST00000444237.2_Splice_Site	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit						cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.?(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTCAAATATCTGAAATGAAA	0.318																																						uc011ays.1		NaN																	1	Unknown(1)		urinary_tract(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.e19-1		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						42.0	44.0	43.0					3																	38921615		2203	4300	6503	SO:0001630	splice_region_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38921615C>G	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3220-1G>C	3.37:g.38921615C>G						SCN11A_uc010hhn.1_Intron	p.I1074_splice	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	19	3419	-								A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Splice_Site	SNP	ENST00000302328.3	37	c.3220_splice	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843038	0.51057	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3885	0.94566	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN11A	38896619	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	7.776000	0.85560	2.678000	0.91216	0.585000	0.79938	.		0.318	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4		NM_014139	Intron	8	31	0	0	0	0.004482	0	8	31		
CX3CR1	1524	broad.mit.edu	37	3	39307706	39307706	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:39307706T>A	ENST00000541347.1	-	2	534	c.295A>T	c.(295-297)Aat>Tat	p.N99Y	CX3CR1_ENST00000542107.1_Missense_Mutation_p.N99Y|CX3CR1_ENST00000399220.2_Missense_Mutation_p.N99Y|CX3CR1_ENST00000358309.3_Missense_Mutation_p.N131Y	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	99					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)	p.N131Y(1)|p.N99Y(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CACATGGCATTGTGGAGGCCC	0.463																																						uc003cjl.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(3)	3						c.(295-297)AAT>TAT		chemokine (C-X3-C motif) receptor 1							164.0	157.0	160.0					3																	39307706		1942	4140	6082	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307706T>A	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.295A>T	3.37:g.39307706T>A	ENSP00000439140:p.Asn99Tyr						p.N99Y	NM_001337	NP_001328	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	387	-			99			Extracellular (Potential).		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.295A>T	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.630418	0.28978	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107;ENST00000435290;ENST00000412814	T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.39	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.520384	0.21323	N	0.076426	T	0.76709	0.4025	M	0.77313	2.365	0.29230	N	0.873376	P	0.47106	0.89	P	0.50490	0.642	T	0.73585	-0.3936	10	0.87932	D	0	.	11.303	0.49318	0.0:0.0:0.2905:0.7095	.	99	P49238	CX3C1_HUMAN	Y	99;107;131;99;99;99;99	ENSP00000382166:N99Y;ENSP00000351059:N131Y;ENSP00000439140:N99Y;ENSP00000444928:N99Y;ENSP00000394960:N99Y;ENSP00000408835:N99Y	ENSP00000351059:N131Y	N	-	1	0	CX3CR1	39282710	0.000000	0.05858	0.018000	0.16275	0.005000	0.04900	0.318000	0.19504	0.321000	0.23259	0.533000	0.62120	AAT		0.463	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1		NM_001337		39	112	0	0	0	0.007835	0	39	112		
ZNF620	253639	broad.mit.edu	37	3	40557421	40557421	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:40557421C>G	ENST00000314529.6	+	5	485	c.336C>G	c.(334-336)ttC>ttG	p.F112L	ZNF620_ENST00000418905.1_5'UTR	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	112					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.F112L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGAGTCCTTCAGACTGATGG	0.463																																						uc003ckk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(334-336)TTC>TTG		zinc finger protein 620							67.0	63.0	65.0					3																	40557421		2203	4300	6503	SO:0001583	missense	253639				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40557421C>G	AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"""Zinc fingers, C2H2-type"", ""-"""	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.336C>G	3.37:g.40557421C>G	ENSP00000322265:p.Phe112Leu					ZNF620_uc003ckl.2_5'UTR	p.F112L	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	5	485	+			112					Q8N223	Missense_Mutation	SNP	ENST00000314529.6	37	c.336C>G	CCDS33740.1	.	.	.	.	.	.	.	.	.	.	C	0.080	-1.184702	0.01620	.	.	ENSG00000177842	ENST00000420891;ENST00000314529	T;T	0.05081	5.68;3.5	2.13	1.25	0.21368	.	.	.	.	.	T	0.02304	0.0071	N	0.03608	-0.345	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.48714	-0.9011	9	0.11794	T	0.64	.	4.668	0.12675	0.0:0.8139:0.0:0.1861	.	112	Q6ZNG0	ZN620_HUMAN	L	112	ENSP00000406156:F112L;ENSP00000322265:F112L	ENSP00000322265:F112L	F	+	3	2	ZNF620	40532425	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.011000	0.12721	0.463000	0.27118	0.467000	0.42956	TTC		0.463	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342824.1		XM_171060		16	52	0	0	0	0.003163	0	16	52		
NKTR	4820	broad.mit.edu	37	3	42672757	42672757	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:42672757G>C	ENST00000232978.8	+	8	687	c.499G>C	c.(499-501)Gat>Cat	p.D167H	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	167	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.D167H(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ACCATATGCAGATGTGCGAGT	0.388																																						uc003clo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(499-501)GAT>CAT		natural killer-tumor recognition sequence							112.0	99.0	103.0					3																	42672757		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42672757G>C		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.499G>C	3.37:g.42672757G>C	ENSP00000232978:p.Asp167His					NKTR_uc003clm.1_5'UTR|NKTR_uc003clp.2_5'UTR|NKTR_uc011azp.1_Missense_Mutation_p.D57H|NKTR_uc003clq.1_Missense_Mutation_p.D57H|NKTR_uc003clr.1_5'UTR|NKTR_uc003cls.2_5'UTR	p.D167H	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	8	646	+			167			PPIase cyclophilin-type.			Missense_Mutation	SNP	ENST00000232978.8	37	c.499G>C	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927703	0.92389	.	.	ENSG00000114857	ENST00000232978	T	0.47177	0.85	5.52	5.52	0.82312	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79167	-0.1915	10	0.87932	D	0	-18.3392	19.4126	0.94681	0.0:0.0:1.0:0.0	.	47;167	Q59EC3;P30414	.;NKTR_HUMAN	H	167	ENSP00000232978:D167H	ENSP00000232978:D167H	D	+	1	0	NKTR	42647761	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.444000	0.97578	2.586000	0.87340	0.467000	0.42956	GAT		0.388	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2		NM_005385		17	50	0	0	0	0.00499	0	17	50		
KLHL40	131377	broad.mit.edu	37	3	42730464	42730464	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:42730464G>A	ENST00000287777.4	+	4	1625	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	509					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)		p.D509N(1)									CACTGTCCATGATGGCCGCAT	0.557																																						uc003clv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1525-1527)GAT>AAT		kelch repeat and BTB (POZ) domain containing 5							74.0	65.0	68.0					3																	42730464		2203	4300	6503	SO:0001583	missense	131377							g.chr3:42730464G>A	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1525G>A	3.37:g.42730464G>A	ENSP00000287777:p.Asp509Asn						p.D509N	NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	4	1625	+			509			Kelch 3.		Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.1525G>A	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	g	4.005	-0.001791	0.07819	.	.	ENSG00000157119	ENST00000287777;ENST00000452129	T	0.80566	-1.39	4.37	4.37	0.52481	Kelch-type beta propeller (1);	0.282399	0.38217	N	0.001775	T	0.55940	0.1952	N	0.05158	-0.105	0.32237	N	0.57317	B	0.10296	0.003	B	0.09377	0.004	T	0.54873	-0.8228	10	0.14656	T	0.56	.	6.0952	0.20017	0.2535:0.0:0.7465:0.0	.	509	Q2TBA0	KBTB5_HUMAN	N	509;254	ENSP00000287777:D509N	ENSP00000287777:D509N	D	+	1	0	KBTBD5	42705468	0.999000	0.42202	0.678000	0.29963	0.333000	0.28666	3.524000	0.53495	2.185000	0.69588	0.436000	0.28706	GAT		0.557	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1		NM_152393		19	55	0	0	0	0.014323	0	19	55		
KIF15	56992	broad.mit.edu	37	3	44893313	44893313	+	Missense_Mutation	SNP	G	G	C	rs77808243		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:44893313G>C	ENST00000326047.4	+	33	3990	c.3841G>C	c.(3841-3843)Gag>Cag	p.E1281Q	KIF15_ENST00000425755.1_Missense_Mutation_p.E916Q	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1281					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E1281Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTACAACAAAGAGATGGAATG	0.373																																						uc003cnx.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(3841-3843)GAG>CAG		kinesin family member 15							147.0	155.0	152.0					3																	44893313		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44893313G>C	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3841G>C	3.37:g.44893313G>C	ENSP00000324020:p.Glu1281Gln					KIF15_uc010hiq.2_Missense_Mutation_p.E1184Q|KIF15_uc010hir.2_Missense_Mutation_p.E329Q	p.E1281Q	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	33	3990	+			1281			Potential.		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.3841G>C	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408079	0.42715	.	.	ENSG00000163808	ENST00000326047;ENST00000425755	T;T	0.35048	1.33;1.33	5.63	4.75	0.60458	.	0.243255	0.28718	N	0.014369	T	0.44030	0.1274	L	0.46947	1.48	0.39485	D	0.967952	D	0.67145	0.996	P	0.53649	0.731	T	0.37150	-0.9718	10	0.36615	T	0.2	.	14.2709	0.66152	0.0714:0.0:0.9286:0.0	.	1281	Q9NS87	KIF15_HUMAN	Q	1281;916	ENSP00000324020:E1281Q;ENSP00000389982:E916Q	ENSP00000324020:E1281Q	E	+	1	0	KIF15	44868317	1.000000	0.71417	0.071000	0.20095	0.516000	0.34256	3.618000	0.54188	1.378000	0.46305	0.561000	0.74099	GAG		0.373	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2				43	158	0	0	0	0.013114	0	43	158		
FBXW12	285231	broad.mit.edu	37	3	48423544	48423544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:48423544G>T	ENST00000296438.5	+	10	1450	c.1264G>T	c.(1264-1266)Gaa>Taa	p.E422*	FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000415155.1_Nonsense_Mutation_p.E352*|FBXW12_ENST00000445170.1_Nonsense_Mutation_p.E403*|RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000436231.1_Nonsense_Mutation_p.E265*	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	422								p.E422*(1)|p.E422K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGTCACCTGGAAAACACGTG	0.483																																						uc003csr.2		NaN																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		urinary_tract(1)|skin(1)		0						c.(1264-1266)GAA>TAA		F-box and WD repeat domain containing 12 isoform							112.0	101.0	104.0					3																	48423544		2203	4300	6503	SO:0001587	stop_gained	285231							g.chr3:48423544G>T	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.1264G>T	3.37:g.48423544G>T	ENSP00000296438:p.Glu422*					FBXW12_uc010hjv.2_Nonsense_Mutation_p.E403*|FBXW12_uc003css.2_Nonsense_Mutation_p.E352*|FBXW12_uc010hjw.2_Nonsense_Mutation_p.E321*	p.E422*	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	10	1450	+			422					E9PG36|Q494Y9|Q494Z0	Nonsense_Mutation	SNP	ENST00000296438.5	37	c.1264G>T	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261242	0.39995	.	.	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	.	.	.	4.37	-3.16	0.05217	.	2.328580	0.01596	N	0.021799	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	0.1166	2.1908	0.03898	0.2158:0.4364:0.2007:0.1471	.	.	.	.	X	321;422;265;403;352	.	ENSP00000296438:E422X	E	+	1	0	FBXW12	48398548	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	-0.289000	0.08365	-0.409000	0.07553	0.650000	0.86243	GAA		0.483	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1		NM_207102		9	39	1	0	9.31168e-06	0.001855	9.45431e-06	9	39		
COL7A1	1294	broad.mit.edu	37	3	48621376	48621376	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:48621376C>T	ENST00000328333.8	-	38	4342	c.4235G>A	c.(4234-4236)gGa>gAa	p.G1412E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1412E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1412	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G1412E(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCACCTGGTCCAGGGGGACC	0.652																																						uc003ctz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(4234-4236)GGA>GAA		alpha 1 type VII collagen precursor							70.0	79.0	76.0					3																	48621376		2203	4299	6502	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48621376C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4235G>A	3.37:g.48621376C>T	ENSP00000332371:p.Gly1412Glu						p.G1412E	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	38	4236	-			1412			Triple-helical region.|Interrupted collagenous region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4235G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574113	0.28092	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99619	-6.28;-6.28	5.72	4.86	0.63082	.	0.000000	0.45867	D	0.000337	D	0.99510	0.9825	H	0.98682	4.3	0.42829	D	0.994015	D	0.56521	0.976	P	0.45538	0.484	D	0.98185	1.0459	10	0.72032	D	0.01	.	11.7627	0.51912	0.0:0.9183:0.0:0.0817	.	1412	Q02388	CO7A1_HUMAN	E	1412	ENSP00000332371:G1412E;ENSP00000412569:G1412E	ENSP00000332371:G1412E	G	-	2	0	COL7A1	48596380	0.947000	0.32204	1.000000	0.80357	0.524000	0.34500	3.573000	0.53856	1.438000	0.47492	-0.136000	0.14681	GGA		0.652	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094		9	56	0	0	0	0.004482	0	9	56		
UQCRC1	7384	broad.mit.edu	37	3	48641043	48641043	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:48641043G>A	ENST00000203407.5	-	6	1076	c.660C>T	c.(658-660)ctC>ctT	p.L220L		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	220					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.L220L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AATGTGTGCTGAGGTACTCGG	0.532																																					NSCLC(81;1112 1427 27031 32409 45529)	uc003cub.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(658-660)CTC>CTT		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						123.0	101.0	108.0					3																	48641043		2203	4300	6503	SO:0001819	synonymous_variant	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48641043G>A	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.660C>T	3.37:g.48641043G>A						UQCRC1_uc003cua.1_Silent_p.L105L|UQCRC1_uc003cuc.1_Silent_p.L220L|UQCRC1_uc003cud.1_Silent_p.L220L	p.L220L	NM_003365	NP_003356	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	6	705	-			220					B2R7R8|Q96DD2	Silent	SNP	ENST00000203407.5	37	c.660C>T	CCDS2774.1																																																																																				0.532	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1		NM_003365		8	45	0	0	0	0.00308	0	8	45		
CELSR3	1951	broad.mit.edu	37	3	48684260	48684260	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:48684260G>A	ENST00000164024.4	-	21	7511	c.7231C>T	c.(7231-7233)Ctc>Ttc	p.L2411F	CELSR3_ENST00000544264.1_Missense_Mutation_p.L2416F|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2411					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L2411F(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGTAAACGAGGAGAATGATA	0.607																																						uc003cul.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(7231-7233)CTC>TTC		cadherin EGF LAG seven-pass G-type receptor 3							41.0	42.0	42.0					3																	48684260		2194	4286	6480	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48684260G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7231C>T	3.37:g.48684260G>A	ENSP00000164024:p.Leu2411Phe					CELSR3_uc003cuf.1_Missense_Mutation_p.L2481F|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Missense_Mutation_p.L394F	p.L2411F	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	21	7512	-			2411			Extracellular (Potential).		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.7231C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	g	16.63	3.176870	0.57692	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.11604	2.76;2.76	5.64	4.75	0.60458	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.27349	0.0671	M	0.62723	1.935	0.33502	D	0.590109	D;D	0.64830	0.958;0.994	P;D	0.66497	0.875;0.944	T	0.35325	-0.9793	9	0.41790	T	0.15	.	12.7892	0.57523	0.0:0.0:0.5494:0.4506	.	2411;2481	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	F	2411;2416	ENSP00000164024:L2411F;ENSP00000445694:L2416F	ENSP00000164024:L2411F	L	-	1	0	CELSR3	48659264	1.000000	0.71417	0.964000	0.40570	0.561000	0.35649	2.813000	0.48002	1.345000	0.45676	0.556000	0.70494	CTC		0.607	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		15	42	0	0	0	0.004007	0	15	42		
BSN	8927	broad.mit.edu	37	3	49690134	49690134	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:49690134G>C	ENST00000296452.4	+	5	3259	c.3145G>C	c.(3145-3147)Gaa>Caa	p.E1049Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1049					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.E1049Q(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCTGCGGGAGGAAGAGGAGCT	0.652																																						uc003cxe.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(3145-3147)GAA>CAA		bassoon protein							29.0	35.0	33.0					3																	49690134		2203	4298	6501	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49690134G>C	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3145G>C	3.37:g.49690134G>C	ENSP00000296452:p.Glu1049Gln						p.E1049Q	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	3259	+			1049			Potential.		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.3145G>C	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.114030	0.56398	.	.	ENSG00000164061	ENST00000296452	T	0.26373	1.74	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	M	0.77313	2.365	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.59669	-0.7411	10	0.62326	D	0.03	.	17.3665	0.87365	0.0:0.0:1.0:0.0	.	1049	Q9UPA5	BSN_HUMAN	Q	1049	ENSP00000296452:E1049Q	ENSP00000296452:E1049Q	E	+	1	0	BSN	49665138	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.807000	0.99171	2.276000	0.75962	0.561000	0.74099	GAA		0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1		NM_003458		8	29	0	0	0	0.00308	0	8	29		
CAMKV	79012	broad.mit.edu	37	3	49899235	49899235	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:49899235G>C	ENST00000477224.1	-	4	769	c.291C>G	c.(289-291)atC>atG	p.I97M	CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000296471.7_Missense_Mutation_p.I97M|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000466940.1_Missense_Mutation_p.I97M|CAMKV_ENST00000463537.1_Missense_Mutation_p.I97M|CAMKV_ENST00000488336.1_Missense_Mutation_p.I97M|CAMKV_ENST00000467248.1_Missense_Mutation_p.I22M			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	97	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.I97M(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCTCCAGGAAGATAAAGTACT	0.582																																						uc003cxt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7						c.(289-291)ATC>ATG		CaM kinase-like vesicle-associated							56.0	55.0	55.0					3																	49899235		2203	4300	6503	SO:0001583	missense	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49899235G>C	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.291C>G	3.37:g.49899235G>C	ENSP00000419195:p.Ile97Met					CAMKV_uc011bcy.1_Missense_Mutation_p.I22M|CAMKV_uc003cxv.1_Missense_Mutation_p.I97M|CAMKV_uc003cxw.1_Translation_Start_Site|CAMKV_uc003cxx.1_Translation_Start_Site|CAMKV_uc003cxu.2_Missense_Mutation_p.I97M|CAMKV_uc011bcz.1_Missense_Mutation_p.I60M|CAMKV_uc011bda.1_Missense_Mutation_p.I97M|CAMKV_uc011bdb.1_RNA	p.I97M	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	484	-			97			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.291C>G	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444161	0.43429	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000467248;ENST00000466940	T;T;T;T;T;T	0.66815	2.58;2.58;0.9;2.58;-0.23;2.58	4.94	1.99	0.26369	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	0.40818	N	0.001009	T	0.69504	0.3118	L	0.37897	1.145	0.43574	D	0.995908	D;D;D;D;D	0.65815	0.991;0.987;0.988;0.995;0.991	D;D;D;P;D	0.68765	0.926;0.96;0.937;0.891;0.933	T	0.69098	-0.5235	10	0.87932	D	0	.	8.9517	0.35792	0.2629:0.0:0.7371:0.0	.	97;60;97;97;97	E7ETR1;B4DMF2;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;.;CAMKV_HUMAN	M	97;97;97;97;22;97	ENSP00000296471:I97M;ENSP00000418809:I97M;ENSP00000417614:I97M;ENSP00000419195:I97M;ENSP00000420053:I22M;ENSP00000420724:I97M	ENSP00000296471:I97M	I	-	3	3	CAMKV	49874239	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.126000	0.42026	0.556000	0.29098	0.462000	0.41574	ATC		0.582	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4		NM_024046		14	65	0	0	0	0.003163	0	14	65		
CYB561D2	11068	broad.mit.edu	37	3	50391174	50391174	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:50391174G>C	ENST00000418577.1	+	3	1244	c.668G>C	c.(667-669)tGa>tCa	p.*223S	XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000232508.5_Nonstop_Mutation_p.*223S|NPRL2_ENST00000232501.3_5'Flank|CYB561D2_ENST00000424512.1_Nonstop_Mutation_p.*223S|CYB561D2_ENST00000425346.1_Nonstop_Mutation_p.*223S			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	0					oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.*223S(1)		endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATCCAACCATGAGCTCTTCCC	0.557																																						uc003dak.2		NaN																	1	Nonstop extension(1)		urinary_tract(1)	lung(1)	1						c.(667-669)TGA>TCA		cytochrome b-561 domain containing 2							64.0	61.0	62.0					3																	50391174		2203	4300	6503	SO:0001578	stop_lost	11068				electron transport chain|transport	integral to membrane	metal ion binding	g.chr3:50391174G>C	AF040704	CCDS2827.1	3p21.3	2013-03-14	2013-03-14		ENSG00000114395	ENSG00000114395		"""Cytochrome b genes"""	30253	protein-coding gene	gene with protein product	"""putative tumor suppressor 101F6"""	607068	"""cytochrome b-561 domain containing 2"""			9122200, 11085536, 23249217	Standard	XM_005264832		Approved	101F6, TSP10	uc003dal.3	O14569	OTTHUMG00000156813	ENST00000418577.1:c.668G>C	3.37:g.50391174G>C	ENSP00000391209:p.*223Serext*15					NPRL2_uc003dai.1_5'Flank|NPRL2_uc003daj.1_5'Flank|CYB561D2_uc003dal.2_Nonstop_Mutation_p.*223S|CYB561D2_uc003dam.2_Nonstop_Mutation_p.*223S	p.*223S	NM_007022	NP_008953	O14569	C56D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	1244	+			223					A8K552	Nonstop_Mutation	SNP	ENST00000418577.1	37	c.668G>C	CCDS2827.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353795	0.61293	.	.	ENSG00000114395	ENST00000425346;ENST00000424512;ENST00000232508;ENST00000418577	.	.	.	5.49	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6689	0.62412	0.0752:0.0:0.9248:0.0	.	.	.	.	S	223	.	.	X	+	2	2	CYB561D2	50366178	1.000000	0.71417	0.854000	0.33618	0.991000	0.79684	3.969000	0.56816	1.323000	0.45263	0.491000	0.48974	TGA		0.557	CYB561D2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345973.1		NM_007022		21	96	0	0	0	0.00333	0	21	96		
RFT1	91869	broad.mit.edu	37	3	53157763	53157763	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:53157763C>T	ENST00000296292.3	-	3	304	c.243G>A	c.(241-243)caG>caA	p.Q81Q	RFT1_ENST00000394738.3_Intron	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	81					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)	p.Q81Q(1)		NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		GGTTGAGGGTCTGGCTCCAGT	0.542																																						uc003dgj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(241-243)CAG>CAA		RFT1 homolog							90.0	80.0	83.0					3																	53157763		2203	4300	6503	SO:0001819	synonymous_variant	91869				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	g.chr3:53157763C>T	AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"""congenital disorder of glycosylation 1N"""	611908	"""RFT1, requiring fifty three 1 homolog (S. cerevisiae)"""			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.243G>A	3.37:g.53157763C>T						RFT1_uc003dgk.2_Intron	p.Q81Q	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)	3	297	-			81					Q96J03	Silent	SNP	ENST00000296292.3	37	c.243G>A	CCDS2869.1																																																																																				0.542	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2		NM_052859		13	49	0	0	0	0.013537	0	13	49		
DCP1A	55802	broad.mit.edu	37	3	53326414	53326414	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:53326414C>T	ENST00000607628.1	-	7	1177	c.1068G>A	c.(1066-1068)ctG>ctA	p.L356L	DCP1A_ENST00000606822.1_Silent_p.L318L|Y_RNA_ENST00000384175.1_RNA|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Silent_p.L356L	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	356					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)	p.L356L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CTGGCTGGTTCAGGAGTGGAG	0.582																																						uc003dgs.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1066-1068)CTG>CTA		DCP1 decapping enzyme homolog A							70.0	73.0	72.0					3																	53326414		2078	4233	6311	SO:0001819	synonymous_variant	55802				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	g.chr3:53326414C>T	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.1068G>A	3.37:g.53326414C>T						DCP1A_uc003dgt.3_RNA	p.L356L	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	7	1161	-			356					B4DHN9|U3KQM8	Silent	SNP	ENST00000607628.1	37	c.1068G>A																																																																																					0.582	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_018403		25	66	0	0	0	0.004656	0	25	66		
CCDC66	285331	broad.mit.edu	37	3	56647736	56647736	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:56647736G>A	ENST00000394672.3	+	11	1594	c.1524G>A	c.(1522-1524)caG>caA	p.Q508Q	CCDC66_ENST00000326595.7_Silent_p.Q474Q|CCDC66_ENST00000436465.2_Silent_p.Q508Q	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	508					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)			p.Q391Q(1)|p.Q508Q(1)		breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AAGAGATGCAGAAACAGTATG	0.388																																						uc003dhz.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	breast(1)	1						c.(1522-1524)CAG>CAA		coiled-coil domain containing 66 isoform 1							187.0	176.0	180.0					3																	56647736		2203	4300	6503	SO:0001819	synonymous_variant	285331							g.chr3:56647736G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1524G>A	3.37:g.56647736G>A						CCDC66_uc003dhy.2_Silent_p.Q144Q|CCDC66_uc003dhu.2_Silent_p.Q474Q|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_5'Flank	p.Q508Q	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	11	1611	+			508			Potential.		B3KWL8|Q4VC34|Q8N949	Silent	SNP	ENST00000394672.3	37	c.1524G>A	CCDS46852.1																																																																																				0.388	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1		NM_001012506		27	84	0	0	0	0.00632	0	27	84		
GBE1	2632	broad.mit.edu	37	3	81586104	81586104	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:81586104C>T	ENST00000429644.2	-	13	2404	c.1761G>A	c.(1759-1761)atG>atA	p.M587I	GBE1_ENST00000489715.1_Missense_Mutation_p.M546I	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	587					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.M587I(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CCAATCTATTCATATCCCTGT	0.413									Glycogen Storage Disease, type IV																													uc003dqg.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)	3						c.(1759-1761)ATG>ATA		glucan (1,4-alpha-), branching enzyme 1							118.0	115.0	116.0					3																	81586104		1860	4100	5960	SO:0001583	missense	2632	Glycogen_Storage_Disease_type_IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81586104C>T		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1761G>A	3.37:g.81586104C>T	ENSP00000410833:p.Met587Ile					GBE1_uc011bgm.1_Missense_Mutation_p.M546I	p.M587I	NM_000158	NP_000149	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	14	2044	-		Lung NSC(201;0.0117)	587					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.1761G>A	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712658	0.68730	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.86956	-2.19;-2.19	5.3	5.3	0.74995	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92381	0.7582	H	0.94385	3.53	0.58432	D	0.999998	P;P	0.45176	0.852;0.59	B;B	0.43889	0.435;0.201	D	0.94222	0.7468	10	0.66056	D	0.02	-26.1325	19.3052	0.94158	0.0:1.0:0.0:0.0	.	546;587	E9PGM4;Q04446	.;GLGB_HUMAN	I	587;638;546;350	ENSP00000410833:M587I;ENSP00000419638:M546I	ENSP00000264326:M638I	M	-	3	0	GBE1	81668794	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.639000	0.89480	0.650000	0.86243	ATG		0.413	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2				19	75	0	0	0	0.007413	0	19	75		
CMSS1	84319	broad.mit.edu	37	3	99865849	99865849	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:99865849G>A	ENST00000421999.2	+	2	243	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	CMSS1_ENST00000489081.1_Missense_Mutation_p.E15K	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	33							poly(A) RNA binding (GO:0044822)	p.E33K(1)|p.E33*(1)									AGGAGACACAGAAGTGATGCA	0.433																																						uc003dtl.2		NaN																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		urinary_tract(1)|large_intestine(1)	skin(1)	1						c.(97-99)GAA>AAA		hypothetical protein LOC84319							101.0	95.0	97.0					3																	99865849		2203	4300	6503	SO:0001583	missense	84319						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr3:99865849G>A		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.97G>A	3.37:g.99865849G>A	ENSP00000410396:p.Glu33Lys						p.E33K	NM_032359	NP_115735	Q9BQ75	CC026_HUMAN			2	240	+			33					A8K5S7|B4DUM1|E9PHS3	Missense_Mutation	SNP	ENST00000421999.2	37	c.97G>A	CCDS2935.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867319	0.32977	.	.	ENSG00000184220	ENST00000421999;ENST00000489081	T;T	0.35048	1.48;1.33	4.29	2.49	0.30216	.	0.630206	0.17115	N	0.186444	T	0.25791	0.0628	L	0.44542	1.39	0.23386	N	0.997781	B	0.09022	0.002	B	0.09377	0.004	T	0.17379	-1.0371	9	.	.	.	.	6.005	0.19541	0.1049:0.1933:0.7018:0.0	.	33	Q9BQ75	CC026_HUMAN	K	33;15	ENSP00000410396:E33K;ENSP00000419161:E15K	.	E	+	1	0	C3orf26	101348539	0.796000	0.28864	0.269000	0.24586	0.523000	0.34469	1.277000	0.33167	0.558000	0.29135	-0.121000	0.15023	GAA		0.433	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1		NM_032359		9	49	0	0	0	0.010729	0	9	49		
ZBTB11	27107	broad.mit.edu	37	3	101390113	101390113	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:101390113G>A	ENST00000312938.4	-	3	1219	c.639C>T	c.(637-639)ttC>ttT	p.F213F	ZBTB11_ENST00000461821.1_3'UTR	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	213					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.F213F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TAACATCACAGAACTGGTTGG	0.373																																						uc003dve.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(637-639)TTC>TTT		zinc finger protein ZNF-U69274							131.0	135.0	134.0					3																	101390113		2203	4300	6503	SO:0001819	synonymous_variant	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101390113G>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.639C>T	3.37:g.101390113G>A						ZBTB11_uc003dvf.2_3'UTR	p.F213F	NM_014415	NP_055230	O95625	ZBT11_HUMAN			3	869	-			213					Q2NKP9	Silent	SNP	ENST00000312938.4	37	c.639C>T	CCDS2943.1																																																																																				0.373	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2		NM_014415		34	211	0	0	0	0.003271	0	34	211		
CBLB	868	broad.mit.edu	37	3	105438984	105438984	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:105438984G>A	ENST00000264122.4	-	10	1635	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	CBLB_ENST00000394027.3_Silent_p.I460I|CBLB_ENST00000405772.1_Silent_p.I438I|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Silent_p.I438I	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	438					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I438I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AGGGGTCAATGATGCTGCAAC	0.498			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.2		NaN		Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		1	Substitution - coding silent(1)		urinary_tract(1)	lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(1312-1314)ATC>ATT		Cas-Br-M (murine) ecotropic retroviral							118.0	99.0	106.0					3																	105438984		2203	4300	6503	SO:0001819	synonymous_variant	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105438984G>A	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1314C>T	3.37:g.105438984G>A						CBLB_uc011bhi.1_Silent_p.I460I|CBLB_uc003dwd.1_Silent_p.I438I|CBLB_uc003dwe.1_Silent_p.I438I|CBLB_uc011bhj.1_RNA	p.I438I	NM_170662	NP_733762	Q13191	CBLB_HUMAN			10	1636	-			438					A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	ENST00000264122.4	37	c.1314C>T	CCDS2948.1																																																																																				0.498	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2		NM_170662		16	87	0	0	0	0.004007	0	16	87		
ARHGAP31	57514	broad.mit.edu	37	3	119101938	119101938	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:119101938G>C	ENST00000264245.4	+	6	1079	c.547G>C	c.(547-549)Gaa>Caa	p.E183Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	183	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)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.E183Q(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TAGGTCTAAAGAAATTGAAGC	0.463																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(547-549)GAA>CAA		Cdc42 GTPase-activating protein							130.0	130.0	130.0					3																	119101938		1981	4165	6146	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119101938G>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.547G>C	3.37:g.119101938G>C	ENSP00000264245:p.Glu183Gln						p.E183Q	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			6	1079	+			183			Rho-GAP.		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.547G>C	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	9.437	1.087009	0.20390	.	.	ENSG00000031081	ENST00000264245;ENST00000543280;ENST00000482743	T;T	0.18016	2.24;2.24	5.65	4.76	0.60689	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.065844	0.64402	D	0.000017	T	0.12987	0.0315	N	0.20574	0.59	0.46849	D	0.999223	B	0.17852	0.024	B	0.29267	0.1	T	0.11991	-1.0565	10	0.24483	T	0.36	.	12.921	0.58232	0.0779:0.0:0.9221:0.0	.	183	Q2M1Z3	RHG31_HUMAN	Q	183;183;154	ENSP00000264245:E183Q;ENSP00000418429:E154Q	ENSP00000264245:E183Q	E	+	1	0	ARHGAP31	120584628	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.259000	0.58828	1.598000	0.50083	0.655000	0.94253	GAA		0.463	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2				22	145	0	0	0	0.00278	0	22	145		
GOLGB1	2804	broad.mit.edu	37	3	121400701	121400701	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:121400701C>G	ENST00000340645.5	-	15	8816	c.8691G>C	c.(8689-8691)ttG>ttC	p.L2897F	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L2902F	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2897					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.L2897F(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCAGATTCTTCAATTCCTTCA	0.368																																						uc003eei.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|breast(2)|skin(2)	10						c.(8689-8691)TTG>TTC		golgi autoantigen, golgin subfamily b,							113.0	104.0	107.0					3																	121400701		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121400701C>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8691G>C	3.37:g.121400701C>G	ENSP00000341848:p.Leu2897Phe					GOLGB1_uc010hrc.2_Missense_Mutation_p.L2902F|GOLGB1_uc003eej.3_Missense_Mutation_p.L2863F	p.L2897F	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	15	8817	-			2897			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.8691G>C	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457291	0.43634	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.19806	2.12;2.13	6.17	4.09	0.47781	.	0.000000	0.50627	D	0.000113	T	0.29028	0.0721	L	0.27053	0.805	0.37097	D	0.899698	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.967	T	0.14144	-1.0483	10	0.35671	T	0.21	.	9.4467	0.38701	0.0:0.8171:0.0:0.1829	.	2902;2902;2897	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	F	2897;2902	ENSP00000341848:L2897F;ENSP00000377275:L2902F	ENSP00000341848:L2897F	L	-	3	2	GOLGB1	122883391	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.935000	0.28924	1.621000	0.50320	0.655000	0.94253	TTG		0.368	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		19	148	0	0	0	0.006122	0	19	148		
GOLGB1	2804	broad.mit.edu	37	3	121417101	121417101	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:121417101G>T	ENST00000340645.5	-	13	2379	c.2254C>A	c.(2254-2256)Cag>Aag	p.Q752K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.Q757K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	752					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q752K(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCCTTCACCTGAGAGAGAAGC	0.418																																						uc003eei.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|breast(2)|skin(2)	10						c.(2254-2256)CAG>AAG		golgi autoantigen, golgin subfamily b,							134.0	129.0	131.0					3																	121417101		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121417101G>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2254C>A	3.37:g.121417101G>T	ENSP00000341848:p.Gln752Lys					GOLGB1_uc010hrc.2_Missense_Mutation_p.Q757K|GOLGB1_uc003eej.3_Missense_Mutation_p.Q718K|GOLGB1_uc011bjm.1_Missense_Mutation_p.Q638K|GOLGB1_uc010hrd.1_Missense_Mutation_p.Q716K	p.Q752K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2380	-			752			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.2254C>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072257	0.36566	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.24723	2.44;2.44;1.84	5.72	5.72	0.89469	.	0.106801	0.42172	D	0.000759	T	0.30541	0.0768	M	0.64997	1.995	0.39437	D	0.967187	B;B;B;B;B	0.33171	0.4;0.4;0.4;0.4;0.4	B;B;B;B;B	0.36464	0.121;0.173;0.225;0.225;0.121	T	0.05666	-1.0871	10	0.23891	T	0.37	.	15.3806	0.74651	0.0:0.0:1.0:0.0	.	677;716;757;757;752	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	K	752;757;716;564	ENSP00000341848:Q752K;ENSP00000377275:Q757K;ENSP00000418231:Q716K	ENSP00000341848:Q752K	Q	-	1	0	GOLGB1	122899791	0.642000	0.27260	0.997000	0.53966	0.888000	0.51559	3.073000	0.50057	2.704000	0.92352	0.655000	0.94253	CAG		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		41	217	1	0	1.30091e-30	0.006999	1.35951e-30	41	217		
KPNA1	3836	broad.mit.edu	37	3	122215299	122215299	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:122215299C>G	ENST00000344337.6	-	2	290	c.114G>C	c.(112-114)caG>caC	p.Q38H		NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	38	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.Q38H(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CTTCTCTTTTCTGCTTTCGTA	0.373																																					Melanoma(12;340 801 11196 19797)	uc003efd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(112-114)CAG>CAC		karyopherin alpha 1							169.0	159.0	163.0					3																	122215299		2203	4300	6503	SO:0001583	missense	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122215299C>G	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.114G>C	3.37:g.122215299C>G	ENSP00000343701:p.Gln38His					KPNA1_uc011bjr.1_5'UTR|KPNA1_uc010hrh.2_5'UTR|KPNA1_uc003efe.2_Missense_Mutation_p.Q38H	p.Q38H	NM_002264	NP_002255	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	2	150	-			38			IBB.		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	c.114G>C	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981807	0.53827	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287;ENST00000476916;ENST00000493510	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.43	2.5	0.30297	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	M	0.88570	2.965	0.58432	D	0.99999	D	0.71674	0.998	D	0.71184	0.972	T	0.61023	-0.7146	10	0.54805	T	0.06	-7.9942	7.7183	0.28717	0.0:0.6813:0.0:0.3187	.	38	P52294	IMA1_HUMAN	H	38	ENSP00000343701:Q38H;ENSP00000419890:Q38H;ENSP00000417166:Q38H;ENSP00000417319:Q38H;ENSP00000419257:Q38H	ENSP00000343701:Q38H	Q	-	3	2	KPNA1	123697989	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	1.326000	0.33735	0.866000	0.35629	0.655000	0.94253	CAG		0.373	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1		NM_002264		26	183	0	0	0	0.005443	0	26	183		
PARP9	83666	broad.mit.edu	37	3	122255822	122255822	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:122255822G>C	ENST00000360356.2	-	9	2196	c.1969C>G	c.(1969-1971)Caa>Gaa	p.Q657E	PARP9_ENST00000477522.2_Missense_Mutation_p.Q622E|PARP9_ENST00000492382.1_Missense_Mutation_p.Q202E|PARP9_ENST00000471785.1_Missense_Mutation_p.Q622E|PARP9_ENST00000462315.1_Missense_Mutation_p.Q622E	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	657	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.Q657E(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGTTTCTTTTGATCTAGAAGC	0.353																																						uc010hri.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)|prostate(1)|skin(1)	4						c.(1969-1971)CAA>GAA		poly (ADP-ribose) polymerase family, member 9							176.0	176.0	176.0					3																	122255822		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122255822G>C	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1969C>G	3.37:g.122255822G>C	ENSP00000353512:p.Gln657Glu					PARP9_uc003eff.3_Missense_Mutation_p.Q622E|PARP9_uc011bjs.1_Missense_Mutation_p.Q622E|PARP9_uc003efg.2_Missense_Mutation_p.Q202E|PARP9_uc003efi.2_Missense_Mutation_p.Q622E|PARP9_uc003efh.2_Missense_Mutation_p.Q657E|PARP9_uc003efj.2_Missense_Mutation_p.Q622E	p.Q657E	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	9	2114	-			657			PARP catalytic.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.1969C>G	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574096	0.28092	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.17213	3.3;2.97;3.16;3.16;2.29	5.11	0.836	0.18891	Poly(ADP-ribose) polymerase, catalytic domain (1);	1.014080	0.07897	N	0.972031	T	0.13841	0.0335	L	0.54323	1.7	0.09310	N	1	P;B;P;P	0.42871	0.555;0.067;0.792;0.519	B;B;B;B	0.35039	0.096;0.012;0.194;0.181	T	0.27331	-1.0077	10	0.16896	T	0.51	.	8.4875	0.33080	0.0:0.1313:0.322:0.5466	.	622;657;202;622	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	E	657;202;622;622;580;622	ENSP00000353512:Q657E;ENSP00000417664:Q202E;ENSP00000419506:Q622E;ENSP00000419001:Q622E;ENSP00000418894:Q622E	ENSP00000353512:Q657E	Q	-	1	0	PARP9	123738512	0.745000	0.28261	0.015000	0.15790	0.194000	0.23727	1.093000	0.30939	0.361000	0.24292	0.655000	0.94253	CAA		0.353	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1		NM_031458		50	290	0	0	0	0.01441	0	50	290		
PARP14	54625	broad.mit.edu	37	3	122447406	122447406	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:122447406C>G	ENST00000474629.2	+	17	5634	c.5368C>G	c.(5368-5370)Caa>Gaa	p.Q1790E		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1790	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.Q1627E(1)|p.Q1790E(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TTATGACTACCAAGCATACCC	0.368																																						uc003efq.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(5368-5370)CAA>GAA		poly (ADP-ribose) polymerase family, member 14							156.0	151.0	152.0					3																	122447406		1882	4109	5991	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122447406C>G	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5368C>G	3.37:g.122447406C>G	ENSP00000418194:p.Gln1790Glu					PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.Q1507E	p.Q1790E	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	17	5427	+			1790			PARP catalytic.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.5368C>G	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365976	0.82463	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.20881	2.04	6.01	6.01	0.97437	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.64402	D	0.000009	T	0.56558	0.1993	M	0.90309	3.105	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.61103	-0.7130	10	0.54805	T	0.06	.	19.0779	0.93169	0.0:1.0:0.0:0.0	.	1790	Q460N5	PAR14_HUMAN	E	1790;1709;786	ENSP00000418194:Q1790E	ENSP00000381224:Q786E	Q	+	1	0	PARP14	123930096	0.998000	0.40836	1.000000	0.80357	0.954000	0.61252	3.862000	0.56009	2.850000	0.98022	0.655000	0.94253	CAA		0.368	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2		NM_017554		43	256	0	0	0	0.010771	0	43	256		
PDIA5	10954	broad.mit.edu	37	3	122865043	122865043	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:122865043A>T	ENST00000316218.7	+	13	1174	c.1079A>T	c.(1078-1080)aAt>aTt	p.N360I	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	360	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)	p.N360I(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TATTTTAAGAATGGAGAGAAA	0.468																																						uc003egc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1078-1080)AAT>ATT		protein disulfide isomerase A5 precursor							131.0	138.0	136.0					3																	122865043		2203	4300	6503	SO:0001583	missense	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122865043A>T	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1079A>T	3.37:g.122865043A>T	ENSP00000323313:p.Asn360Ile					PDIA5_uc003egd.1_RNA	p.N360I	NM_006810	NP_006801	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	13	1135	+			360			Thioredoxin 2.		D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	37	c.1079A>T	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124370	0.77436	.	.	ENSG00000065485	ENST00000316218	T	0.44881	0.91	5.33	5.33	0.75918	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.325830	0.36893	N	0.002352	T	0.59972	0.2233	H	0.94925	3.6	0.42088	D	0.991288	P	0.34562	0.457	B	0.39299	0.296	T	0.67585	-0.5633	10	0.44086	T	0.13	.	14.1604	0.65443	1.0:0.0:0.0:0.0	.	360	Q14554	PDIA5_HUMAN	I	360	ENSP00000323313:N360I	ENSP00000323313:N360I	N	+	2	0	PDIA5	124347733	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	6.560000	0.73950	2.136000	0.66102	0.533000	0.62120	AAT		0.468	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1		NM_006810		41	303	0	0	0	0.00623	0	41	303		
ADCY5	111	broad.mit.edu	37	3	123051504	123051504	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:123051504G>C	ENST00000462833.1	-	4	2637	c.1425C>G	c.(1423-1425)atC>atG	p.I475M	ADCY5_ENST00000309879.5_Missense_Mutation_p.I125M|ADCY5_ENST00000491190.1_Missense_Mutation_p.I108M	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	475	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.I475M(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGAAGCCCTCGATGTCAGCAA	0.532																																						uc003egh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(1423-1425)ATC>ATG		adenylate cyclase 5							43.0	37.0	39.0					3																	123051504		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123051504G>C	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1425C>G	3.37:g.123051504G>C	ENSP00000419361:p.Ile475Met					ADCY5_uc003egg.1_Missense_Mutation_p.I108M|ADCY5_uc003egi.1_Missense_Mutation_p.I34M	p.I475M	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	4	1425	-			475			Guanylate cyclase 1.|Cytoplasmic (Potential).	Magnesium 2; via carbonyl oxygen (By similarity).	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.1425C>G	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393930	0.62066	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617;ENST00000483566	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	4.77	0.619	0.17630	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.070011	0.53938	D	0.000049	D	0.93103	0.7804	M	0.88704	2.975	0.52099	D	0.999942	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89867	0.4020	10	0.87932	D	0	.	4.1007	0.10012	0.4642:0.0:0.3297:0.2061	.	475;108	O95622;B3KWA8	ADCY5_HUMAN;.	M	475;108;125;34;34	ENSP00000419361:I475M;ENSP00000418537:I108M;ENSP00000308685:I125M;ENSP00000420082:I34M;ENSP00000420252:I34M	ENSP00000308685:I125M	I	-	3	3	ADCY5	124534194	0.936000	0.31750	1.000000	0.80357	0.995000	0.86356	-0.013000	0.12678	0.229000	0.21039	0.484000	0.47621	ATC		0.532	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4		XM_171048		5	60	0	0	0	0.001168	0	5	60		
KALRN	8997	broad.mit.edu	37	3	123987680	123987680	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:123987680G>C	ENST00000240874.3	+	5	698	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	KALRN_ENST00000460856.1_Missense_Mutation_p.E181Q|KALRN_ENST00000360013.3_Missense_Mutation_p.E181Q	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	181					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E181Q(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTACAACCATGAGGAGTGGAT	0.612																																						uc003ehg.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(541-543)GAG>CAG		kalirin, RhoGEF kinase isoform 1							70.0	69.0	70.0					3																	123987680		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123987680G>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.541G>C	3.37:g.123987680G>C	ENSP00000240874:p.Glu181Gln					KALRN_uc010hrv.1_Missense_Mutation_p.E181Q|KALRN_uc003ehf.1_Missense_Mutation_p.E181Q|KALRN_uc011bjy.1_Missense_Mutation_p.E181Q	p.E181Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			5	668	+			181					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.541G>C	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.37|15.37	2.813637|2.813637	0.50527|0.50527	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000448253;ENST00000354186	T;T;T|.	0.64991|.	-0.13;-0.13;-0.13|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Cellular retinaldehyde-binding/triple function, C-terminal (1);|.	0.193471|.	0.44097|.	D|.	0.000483|.	T|T	0.59088|0.59088	0.2168|0.2168	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;B;D|.	0.60160|.	0.979;0.163;0.987|.	D;B;P|.	0.64877|.	0.93;0.391;0.907|.	T|T	0.51317|0.51317	-0.8721|-0.8721	10|5	0.15499|.	T|.	0.54|.	.|.	19.5125|19.5125	0.95148|0.95148	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	181;181;181|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	Q|I	181|208;158	ENSP00000418611:E181Q;ENSP00000240874:E181Q;ENSP00000353109:E181Q|.	ENSP00000240874:E181Q|.	E|M	+|+	1|3	0|0	KALRN|KALRN	125470370|125470370	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.886000|0.886000	0.51366|0.51366	9.657000|9.657000	0.98554|0.98554	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.612	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4		NM_003947		63	88	0	0	0	0.01441	0	63	88		
KALRN	8997	broad.mit.edu	37	3	123987800	123987800	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:123987800G>A	ENST00000240874.3	+	5	818	c.661G>A	c.(661-663)Gag>Aag	p.E221K	KALRN_ENST00000460856.1_Missense_Mutation_p.E221K|KALRN_ENST00000360013.3_Missense_Mutation_p.E221K	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	221					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E221K(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGTGGATGTGGAGGGCTCTCG	0.627																																						uc003ehg.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(661-663)GAG>AAG		kalirin, RhoGEF kinase isoform 1							32.0	32.0	32.0					3																	123987800		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123987800G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.661G>A	3.37:g.123987800G>A	ENSP00000240874:p.Glu221Lys					KALRN_uc010hrv.1_Missense_Mutation_p.E221K|KALRN_uc003ehf.1_Missense_Mutation_p.E221K|KALRN_uc011bjy.1_Missense_Mutation_p.E221K	p.E221K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			5	788	+			221			Spectrin 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.661G>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.460639|4.460639	0.84317|0.84317	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000448253;ENST00000354186	T;T;T|.	0.43294|.	0.95;0.95;0.95|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76271|.	0.3964|.	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	P;P;P|.	0.46987|.	0.749;0.888;0.837|.	B;P;P|.	0.47941|.	0.359;0.453;0.562|.	T|.	0.74061|.	-0.3786|.	10|.	0.27785|.	T|.	0.31|.	.|.	19.5125|19.5125	0.95148|0.95148	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	221;221;221|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	K|X	221|248;198	ENSP00000418611:E221K;ENSP00000240874:E221K;ENSP00000353109:E221K|.	ENSP00000240874:E221K|.	E|W	+|+	1|3	0|0	KALRN|KALRN	125470490|125470490	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.857000|0.857000	0.48899|0.48899	9.657000|9.657000	0.98554|0.98554	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.627	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4		NM_003947		30	26	0	0	0	0.007291	0	30	26		
HMCES	56941	broad.mit.edu	37	3	129020945	129020945	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:129020945C>G	ENST00000383463.4	+	6	877	c.788C>G	c.(787-789)aCt>aGt	p.T263S	HMCES_ENST00000502878.2_Missense_Mutation_p.T263S|HMCES_ENST00000417226.2_Missense_Mutation_p.T221S|HMCES_ENST00000389735.3_Missense_Mutation_p.T263S	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	263							DNA binding (GO:0003677)|peptidase activity (GO:0008233)	p.T263S(1)									CGAAACAACACTCCTGAGTGT	0.483																																						uc003elt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(787-789)ACT>AGT		hypothetical protein LOC56941							115.0	118.0	117.0					3																	129020945		2203	4300	6503	SO:0001583	missense	56941							g.chr3:129020945C>G	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.788C>G	3.37:g.129020945C>G	ENSP00000372955:p.Thr263Ser					C3orf37_uc003elu.2_Missense_Mutation_p.T221S|C3orf37_uc003elv.2_Missense_Mutation_p.T263S|C3orf37_uc003elw.2_Missense_Mutation_p.T263S	p.T263S	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN			6	876	+			263					A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	ENST00000383463.4	37	c.788C>G	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	C	2.987	-0.209035	0.06140	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000510314;ENST00000502878;ENST00000389735	.	.	.	5.2	4.31	0.51392	.	0.399362	0.30168	N	0.010246	T	0.21387	0.0515	N	0.01686	-0.76	0.38281	D	0.942434	B;B	0.16603	0.006;0.018	B;B	0.19148	0.012;0.024	T	0.26677	-1.0096	9	0.02654	T	1	-7.4355	11.1098	0.48226	0.0:0.9096:0.0:0.0904	.	221;263	E7EMP6;Q96FZ2	.;CC037_HUMAN	S	215;263;221;173;263;263	.	ENSP00000372955:T263S	T	+	2	0	C3orf37	130503635	0.980000	0.34600	1.000000	0.80357	0.621000	0.37620	2.762000	0.47597	2.587000	0.87381	0.591000	0.81541	ACT		0.483	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2		NM_020187		33	189	0	0	0	0.003755	0	33	189		
HMCES	56941	broad.mit.edu	37	3	129023525	129023525	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:129023525G>C	ENST00000383463.4	+	7	1011	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	HMCES_ENST00000502878.2_Missense_Mutation_p.E308Q|HMCES_ENST00000417226.2_Missense_Mutation_p.E266Q|HMCES_ENST00000389735.3_Missense_Mutation_p.E308Q	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	308							DNA binding (GO:0003677)|peptidase activity (GO:0008233)	p.E308Q(1)									TCAAAAGGAAGAGTCAGATGT	0.532																																						uc003elt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(922-924)GAG>CAG		hypothetical protein LOC56941							111.0	104.0	107.0					3																	129023525		2203	4300	6503	SO:0001583	missense	56941							g.chr3:129023525G>C	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.922G>C	3.37:g.129023525G>C	ENSP00000372955:p.Glu308Gln					C3orf37_uc003elu.2_Missense_Mutation_p.E266Q|C3orf37_uc003elv.2_Missense_Mutation_p.E308Q|C3orf37_uc003elw.2_Missense_Mutation_p.E308Q	p.E308Q	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN			7	1010	+			308					A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	ENST00000383463.4	37	c.922G>C	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	G	9.563	1.118945	0.20877	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735	.	.	.	3.92	3.04	0.35103	.	4.151350	0.00541	N	0.000231	T	0.55893	0.1949	M	0.68952	2.095	0.30264	N	0.792873	P;P	0.48089	0.552;0.905	B;P	0.46758	0.156;0.526	T	0.42155	-0.9468	9	0.31617	T	0.26	-5.9359	9.5324	0.39202	0.106:0.0:0.894:0.0	.	266;308	E7EMP6;Q96FZ2	.;CC037_HUMAN	Q	260;308;266;308;308	.	ENSP00000372955:E308Q	E	+	1	0	C3orf37	130506215	1.000000	0.71417	0.012000	0.15200	0.323000	0.28346	3.223000	0.51231	0.993000	0.38866	0.591000	0.81541	GAG		0.532	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2		NM_020187		32	135	0	0	0	0.012213	0	32	135		
PLXND1	23129	broad.mit.edu	37	3	129282030	129282030	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:129282030G>A	ENST00000324093.4	-	26	4753	c.4575C>T	c.(4573-4575)atC>atT	p.I1525I	PLXND1_ENST00000393239.1_Silent_p.I1525I	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1525					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.I1525I(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGCCCTTGTTGATTTGCTGCT	0.617																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)	1						c.(4573-4575)ATC>ATT		plexin D1 precursor							79.0	69.0	72.0					3																	129282030		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129282030G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4575C>T	3.37:g.129282030G>A						PLXND1_uc011blb.1_Silent_p.I193I	p.I1525I	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			26	4675	-			1525			Cytoplasmic (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.4575C>T	CCDS33854.1																																																																																				0.617	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4		NM_015103		12	44	0	0	0	0.013537	0	12	44		
COL6A6	131873	broad.mit.edu	37	3	130290018	130290018	+	Missense_Mutation	SNP	G	G	A	rs567427258		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:130290018G>A	ENST00000358511.6	+	6	2789	c.2758G>A	c.(2758-2760)Gat>Aat	p.D920N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D920N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	920	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D920N(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTGATCACCGATGGGGAATC	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18006	0.0		0.0	False		,,,				2504	0.001					uc010htl.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2758-2760)GAT>AAT		collagen type VI alpha 6 precursor							59.0	59.0	59.0					3																	130290018		1924	4128	6052	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130290018G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2758G>A	3.37:g.130290018G>A	ENSP00000351310:p.Asp920Asn						p.D920N	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			6	2789	+			920			VWFA 5.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2758G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002877	0.93287	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.92149	-2.98;-2.98	4.92	4.92	0.64577	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000012	D	0.95968	0.8687	M	0.78049	2.395	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.95984	0.8980	10	0.54805	T	0.06	.	18.0758	0.89426	0.0:0.0:1.0:0.0	.	920	A6NMZ7	CO6A6_HUMAN	N	920	ENSP00000351310:D920N;ENSP00000399236:D920N	ENSP00000351310:D920N	D	+	1	0	COL6A6	131772708	1.000000	0.71417	0.960000	0.40013	0.915000	0.54546	9.369000	0.97156	2.460000	0.83146	0.561000	0.74099	GAT		0.557	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608		15	68	0	0	0	0.003163	0	15	68		
PIK3R4	30849	broad.mit.edu	37	3	130464024	130464024	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:130464024G>C	ENST00000356763.3	-	2	596	c.39C>G	c.(37-39)atC>atG	p.I13M		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	13					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I13M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTACAGAAAGGATCTGGGAGG	0.398																																						uc003enj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(37-39)ATC>ATG		phosphoinositide-3-kinase, regulatory subunit 4							39.0	39.0	39.0					3																	130464024		1990	4204	6194	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130464024G>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.39C>G	3.37:g.130464024G>C	ENSP00000349205:p.Ile13Met						p.I13M	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			2	620	-			13					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.39C>G	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126504	0.56721	.	.	ENSG00000196455	ENST00000356763	T	0.07444	3.19	5.12	2.36	0.29203	.	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00223	-1.1903	10	0.54805	T	0.06	-21.6111	10.5048	0.44828	0.2117:0.0:0.7883:0.0	.	13	Q99570	PI3R4_HUMAN	M	13	ENSP00000349205:I13M	ENSP00000349205:I13M	I	-	3	3	PIK3R4	131946714	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.347000	0.44036	0.286000	0.22352	-0.332000	0.08345	ATC		0.398	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1		NM_014602		16	99	0	0	0	0.00499	0	16	99		
BFSP2	8419	broad.mit.edu	37	3	133185754	133185754	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:133185754C>T	ENST00000302334.2	+	5	1063	c.974C>T	c.(973-975)tCg>tTg	p.S325L	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	325	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.S325L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CACAACACTTCGTGCCAAGTC	0.562																																						uc003epn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(973-975)TCG>TTG		phakinin							85.0	80.0	82.0					3																	133185754		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133185754C>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.974C>T	3.37:g.133185754C>T	ENSP00000304987:p.Ser325Leu						p.S325L	NM_003571	NP_003562	Q13515	BFSP2_HUMAN			5	1112	+			325			Rod.|Potential.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.974C>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475468	0.84640	.	.	ENSG00000170819	ENST00000302334	D	0.88741	-2.42	5.74	5.74	0.90152	Filament (1);	0.532920	0.17019	N	0.190217	D	0.89866	0.6839	L	0.46157	1.445	0.24232	N	0.995394	D	0.60575	0.988	P	0.48873	0.593	D	0.84709	0.0733	10	0.87932	D	0	-2.63	19.919	0.97077	0.0:1.0:0.0:0.0	.	325	Q13515	BFSP2_HUMAN	L	325	ENSP00000304987:S325L	ENSP00000304987:S325L	S	+	2	0	BFSP2	134668444	0.638000	0.27225	0.020000	0.16555	0.988000	0.76386	4.123000	0.57917	2.712000	0.92718	0.561000	0.74099	TCG		0.562	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1				23	143	0	0	0	0.00278	0	23	143		
NME9	347736	broad.mit.edu	37	3	138033219	138033219	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:138033219C>T	ENST00000333911.3	-	6	442	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	NME9_ENST00000317876.4_Missense_Mutation_p.E78K|NME9_ENST00000536478.1_Missense_Mutation_p.E78K|NME9_ENST00000341790.5_Missense_Mutation_p.E76K|NME9_ENST00000484930.1_Missense_Mutation_p.E76K|NME9_ENST00000383180.2_Missense_Mutation_p.E78K			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	139					cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.E78K(1)									GAAACACATTCATCTTCATCA	0.358																																						uc003esg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(415-417)GAA>AAA		thioredoxin domain containing 6							186.0	186.0	186.0					3																	138033219		2203	4300	6503	SO:0001583	missense	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138033219C>T	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.415G>A	3.37:g.138033219C>T	ENSP00000335444:p.Glu139Lys					TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Missense_Mutation_p.E54K|TXNDC6_uc003ese.1_Missense_Mutation_p.E78K	p.E139K	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN			6	443	-			139					Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	ENST00000333911.3	37	c.415G>A		.	.	.	.	.	.	.	.	.	.	C	3.203	-0.163307	0.06502	.	.	ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911;ENST00000475751	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.86;0.86;0.84;0.91;0.88	5.4	3.52	0.40303	.	0.761015	0.12499	N	0.463550	T	0.29458	0.0734	N	0.20986	0.625	0.09310	N	1	B;B;B	0.18863	0.015;0.031;0.002	B;B;B	0.13407	0.009;0.004;0.005	T	0.25398	-1.0133	10	0.13853	T	0.58	-3.4632	7.1092	0.25380	0.0:0.7804:0.0:0.2196	.	76;139;78	Q86XW9-3;Q86XW9;Q86XW9-2	.;TXND6_HUMAN;.	K	78;78;76;76;78;139;139	ENSP00000372667:E78K;ENSP00000321929:E78K;ENSP00000419882:E76K;ENSP00000341084:E76K;ENSP00000440143:E78K;ENSP00000335444:E139K;ENSP00000419147:E139K	ENSP00000321929:E78K	E	-	1	0	TXNDC6	139515909	0.024000	0.19004	0.002000	0.10522	0.052000	0.14988	1.633000	0.37113	0.576000	0.29452	0.591000	0.81541	GAA		0.358	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1		NM_178130		43	295	0	0	0	0.010771	0	43	295		
PIK3CB	5291	broad.mit.edu	37	3	138374293	138374293	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:138374293C>T	ENST00000477593.1	-	23	3224	c.3151G>A	c.(3151-3153)Gaa>Aaa	p.E1051K	PIK3CB_ENST00000289153.2_Missense_Mutation_p.E1051K|PIK3CB_ENST00000544716.1_Missense_Mutation_p.E502K			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1051	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.E1051K(2)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	GTCCAGCTTTCCCTGAGCGCC	0.423																																						uc011bmq.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(3151-3153)GAA>AAA		catalytic phosphatidylinositol 3-kinase beta							127.0	118.0	121.0					3																	138374293		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138374293C>T		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.3151G>A	3.37:g.138374293C>T	ENSP00000418143:p.Glu1051Lys					PIK3CB_uc011bmn.1_Missense_Mutation_p.E563K|PIK3CB_uc011bmo.1_Missense_Mutation_p.E502K|PIK3CB_uc011bmp.1_Missense_Mutation_p.E638K|PIK3CB_uc003est.1_RNA	p.E1051K	NM_006219	NP_006210	P42338	PK3CB_HUMAN			22	3151	-			1051			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.3151G>A	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.327746	0.60743	.	.	ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153	T;T;T	0.80566	-1.39;-1.39;-1.39	5.4	5.4	0.78164	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	N	0.12637	0.245	0.80722	D	1	P;P;B	0.51449	0.945;0.613;0.394	P;B;B	0.44732	0.459;0.358;0.106	T	0.69000	-0.5261	10	0.21014	T	0.42	-29.6367	19.3757	0.94508	0.0:1.0:0.0:0.0	.	1051;638;502	P42338;B4DZI3;Q68DL0	PK3CB_HUMAN;.;.	K	1051;502;1051	ENSP00000418143:E1051K;ENSP00000438259:E502K;ENSP00000289153:E1051K	ENSP00000289153:E1051K	E	-	1	0	PIK3CB	139856983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.814000	0.96858	0.655000	0.94253	GAA		0.423	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1				56	116	0	0	0	0.01441	0	56	116		
PIK3CB	5291	broad.mit.edu	37	3	138374305	138374305	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:138374305C>T	ENST00000477593.1	-	23	3212	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K	PIK3CB_ENST00000289153.2_Missense_Mutation_p.E1047K|PIK3CB_ENST00000544716.1_Missense_Mutation_p.E498K			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.E1047K(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CTGAGCGCCTCATCAAATTTT	0.408																																						uc011bmq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(3139-3141)GAG>AAG		catalytic phosphatidylinositol 3-kinase beta							116.0	109.0	112.0					3																	138374305		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138374305C>T		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.3139G>A	3.37:g.138374305C>T	ENSP00000418143:p.Glu1047Lys					PIK3CB_uc011bmn.1_Missense_Mutation_p.E559K|PIK3CB_uc011bmo.1_Missense_Mutation_p.E498K|PIK3CB_uc011bmp.1_Missense_Mutation_p.E634K|PIK3CB_uc003est.1_RNA	p.E1047K	NM_006219	NP_006210	P42338	PK3CB_HUMAN			22	3139	-			1047			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.3139G>A	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.940317|4.940317	0.92526|0.92526	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	T;T;T|.	0.81415|.	-1.49;-1.49;-1.49|.	5.3|5.3	5.3|5.3	0.74995|0.74995	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69459|0.69459	0.3113|0.3113	L|L	0.48174|0.48174	1.505|1.505	0.80722|0.80722	D|D	1|1	D;P;P|.	0.71674|.	0.998;0.928;0.699|.	P;P;P|.	0.58013|.	0.831;0.831;0.555|.	T|T	0.64799|0.64799	-0.6322|-0.6322	10|5	0.39692|.	T|.	0.17|.	-25.9625|-25.9625	19.1556|19.1556	0.93509|0.93509	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1047;634;498|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	K|I	1047;498;1047|678	ENSP00000418143:E1047K;ENSP00000438259:E498K;ENSP00000289153:E1047K|.	ENSP00000289153:E1047K|.	E|M	-|-	1|3	0|0	PIK3CB|PIK3CB	139856995|139856995	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.651000|7.651000	0.83577|0.83577	2.758000|2.758000	0.94735|0.94735	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.408	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1				56	117	0	0	0	0.01441	0	56	117		
PIK3CB	5291	broad.mit.edu	37	3	138374308	138374308	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:138374308C>T	ENST00000477593.1	-	23	3209	c.3136G>A	c.(3136-3138)Gat>Aat	p.D1046N	PIK3CB_ENST00000289153.2_Missense_Mutation_p.D1046N|PIK3CB_ENST00000544716.1_Missense_Mutation_p.D497N			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1046	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.D1046N(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AGCGCCTCATCAAATTTTTGC	0.408																																						uc011bmq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(3136-3138)GAT>AAT		catalytic phosphatidylinositol 3-kinase beta							113.0	106.0	109.0					3																	138374308		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138374308C>T		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.3136G>A	3.37:g.138374308C>T	ENSP00000418143:p.Asp1046Asn					PIK3CB_uc011bmn.1_Missense_Mutation_p.D558N|PIK3CB_uc011bmo.1_Missense_Mutation_p.D497N|PIK3CB_uc011bmp.1_Missense_Mutation_p.D633N|PIK3CB_uc003est.1_RNA	p.D1046N	NM_006219	NP_006210	P42338	PK3CB_HUMAN			22	3136	-			1046			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.3136G>A	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	C	6.596	0.478354	0.12521	.	.	ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153	T;T;T	0.81163	-1.46;-1.46;-1.46	5.3	5.3	0.74995	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.63873	0.2548	N	0.10618	0.005	0.80722	D	1	B;B;B	0.20550	0.046;0.001;0.001	B;B;B	0.14023	0.01;0.002;0.003	T	0.61108	-0.7129	10	0.08381	T	0.77	-27.2176	19.1556	0.93509	0.0:1.0:0.0:0.0	.	1046;633;497	P42338;B4DZI3;Q68DL0	PK3CB_HUMAN;.;.	N	1046;497;1046	ENSP00000418143:D1046N;ENSP00000438259:D497N;ENSP00000289153:D1046N	ENSP00000289153:D1046N	D	-	1	0	PIK3CB	139856998	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.963000	0.56773	2.758000	0.94735	0.655000	0.94253	GAT		0.408	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1				56	118	0	0	0	0.01441	0	56	118		
PIK3CB	5291	broad.mit.edu	37	3	138433362	138433362	+	Missense_Mutation	SNP	G	G	A	rs143122477		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:138433362G>A	ENST00000477593.1	-	8	1323	c.1250C>T	c.(1249-1251)aCg>aTg	p.T417M	PIK3CB_ENST00000289153.2_Missense_Mutation_p.T417M|PIK3CB_ENST00000544716.1_5'Flank			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	417	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.T417M(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AATAGTTTTCGTTGATTTCTT	0.318													G|||	1	0.000199681	0.0	0.0	5008	,	,		16582	0.001		0.0	False		,,,				2504	0.0					uc011bmq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(1249-1251)ACG>ATG		catalytic phosphatidylinositol 3-kinase beta							145.0	138.0	141.0					3																	138433362		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138433362G>A		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1250C>T	3.37:g.138433362G>A	ENSP00000418143:p.Thr417Met					PIK3CB_uc011bmo.1_Translation_Start_Site|PIK3CB_uc011bmp.1_Missense_Mutation_p.T21M	p.T417M	NM_006219	NP_006210	P42338	PK3CB_HUMAN			7	1250	-			417			Nuclear localization signal.|C2 PI3K-type.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.1250C>T	CCDS3104.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	21.9|21.9	4.219740|4.219740	0.79464|0.79464	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000493568|ENST00000477593;ENST00000289153	.|T;T	.|0.70986	.|-0.53;-0.53	5.46|5.46	5.46|5.46	0.80206|0.80206	.|C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	.|0.116455	.|0.64402	.|D	.|0.000020	.|T	.|0.80763	.|0.4685	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;P	.|0.62365	.|0.991;0.932	.|D;P	.|0.65140	.|0.932;0.788	.|T	.|0.80759	.|-0.1239	.|10	.|0.56958	.|D	.|0.05	-23.25|-23.25	19.6693|19.6693	0.95905|0.95905	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|417;21	.|P42338;B4DZI3	.|PK3CB_HUMAN;.	X|M	66|417	.|ENSP00000418143:T417M;ENSP00000289153:T417M	.|ENSP00000289153:T417M	R|T	-|-	1|2	2|0	PIK3CB|PIK3CB	139916052|139916052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.087000|7.087000	0.76893|0.76893	2.711000|2.711000	0.92665|0.92665	0.650000|0.650000	0.86243|0.86243	CGA|ACG		0.318	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1				54	56	0	0	0	0.01441	0	54	56		
CLSTN2	64084	broad.mit.edu	37	3	140185546	140185546	+	Silent	SNP	C	C	T	rs139804872	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:140185546C>T	ENST00000458420.3	+	8	1507	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	439					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.P439P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTTTCGCCCCGCGGAGTTCC	0.567										HNSCC(16;0.037)			C|||	3	0.000599042	0.0023	0.0	5008	,	,		20189	0.0		0.0	False		,,,				2504	0.0				GBM(45;858 913 3709 36904 37282)	uc003etn.2		NaN																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(1)|urinary_tract(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1315-1317)CCC>CCT		calsyntenin 2 precursor		C		5,4401	9.9+/-24.2	0,5,2198	64.0	57.0	60.0		1317	-10.4	0.0	3	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CLSTN2	NM_022131.2		0,6,6497	TT,TC,CC		0.0116,0.1135,0.0461		439/956	140185546	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140185546C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1317C>T	3.37:g.140185546C>T		HNSCC(16;0.037)				CLSTN2_uc003etm.2_Silent_p.P439P	p.P439P	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			8	1507	+			439			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.1317C>T	CCDS3112.1																																																																																				0.567	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3		NM_022131		15	105	0	0	0	0.004007	0	15	105		
TRIM42	287015	broad.mit.edu	37	3	140401335	140401335	+	Missense_Mutation	SNP	G	G	C	rs375237362		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:140401335G>C	ENST00000286349.3	+	2	564	c.373G>C	c.(373-375)Gat>Cat	p.D125H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	125						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.D125H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGGGAGCAGCGATACCCAGGT	0.557																																						uc003eto.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(373-375)GAT>CAT		tripartite motif-containing 42							86.0	86.0	86.0					3																	140401335		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140401335G>C	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.373G>C	3.37:g.140401335G>C	ENSP00000286349:p.Asp125His						p.D125H	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			2	564	+			125					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.373G>C	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212269	0.58452	.	.	ENSG00000155890	ENST00000286349	T	0.37584	1.19	5.25	4.31	0.51392	.	1.857230	0.02365	N	0.077246	T	0.45677	0.1354	L	0.36672	1.1	0.35632	D	0.81031	P	0.50710	0.938	P	0.51516	0.672	T	0.41610	-0.9499	10	0.72032	D	0.01	-15.3201	11.2977	0.49288	0.0:0.184:0.816:0.0	.	125	Q8IWZ5	TRI42_HUMAN	H	125	ENSP00000286349:D125H	ENSP00000286349:D125H	D	+	1	0	TRIM42	141884025	0.853000	0.29707	0.998000	0.56505	0.741000	0.42261	1.736000	0.38187	2.634000	0.89283	0.561000	0.74099	GAT		0.557	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2		NM_152616		15	154	0	0	0	0.010504	0	15	154		
COMMD2	51122	broad.mit.edu	37	3	149459490	149459490	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:149459490G>A	ENST00000473414.1	-	5	472	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	140	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.							p.L140F(1)		NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGTTGCCTGAGACTTCTACTT	0.353																																						uc003exk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(418-420)CTC>TTC		COMM domain containing 2							183.0	185.0	184.0					3																	149459490		2203	4300	6503	SO:0001583	missense	51122						protein binding	g.chr3:149459490G>A	AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.418C>T	3.37:g.149459490G>A	ENSP00000419475:p.Leu140Phe					COMMD2_uc003exj.1_5'Flank	p.L140F	NM_016094	NP_057178	Q86X83	COMD2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	465	-			140			COMM.		Q561V4|Q9H3L5|Q9Y5V1	Missense_Mutation	SNP	ENST00000473414.1	37	c.418C>T	CCDS3145.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252485	0.80135	.	.	ENSG00000114744	ENST00000473414	T	0.12465	2.68	5.76	5.76	0.90799	COMM domain (1);	0.152041	0.47852	D	0.000201	T	0.44435	0.1293	M	0.88105	2.93	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.48456	-0.9034	10	0.72032	D	0.01	5.0E-4	15.1029	0.72296	0.0693:0.0:0.9307:0.0	.	140	Q86X83	COMD2_HUMAN	F	140	ENSP00000419475:L140F	ENSP00000419475:L140F	L	-	1	0	COMMD2	150942180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.761000	0.47589	2.726000	0.93360	0.655000	0.94253	CTC		0.353	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356515.1		NM_016094		23	214	0	0	0	0.00278	0	23	214		
PLCH1	23007	broad.mit.edu	37	3	155199659	155199659	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:155199659G>C	ENST00000340059.7	-	23	4179	c.4180C>G	c.(4180-4182)Cag>Gag	p.Q1394E	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.Q1356E|PLCH1_ENST00000460012.1_Missense_Mutation_p.Q1356E|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.Q1356E	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1394					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.Q1394E(1)|p.Q1356E(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACCACACCCTGATTGTACTTG	0.403																																						uc011bok.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(3)|ovary(1)	4						c.(4180-4182)CAG>GAG		phospholipase C eta 1 isoform a							68.0	70.0	70.0					3																	155199659		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199659G>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4180C>G	3.37:g.155199659G>C	ENSP00000345988:p.Gln1394Glu					PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.Q1356E	p.Q1394E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4457	-			1394					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4180C>G	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672059	0.29693	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.47	2.46	0.29980	.	1.686030	0.02577	N	0.098395	T	0.74831	0.3768	L	0.29908	0.895	0.09310	N	1	B;B	0.27791	0.136;0.189	B;B	0.29942	0.109;0.051	T	0.61153	-0.7120	10	0.45353	T	0.12	.	10.025	0.42066	0.0:0.1272:0.4805:0.3922	.	1356;1394	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	E	1356;1394;1356;1356	ENSP00000417502:Q1356E;ENSP00000345988:Q1394E;ENSP00000335469:Q1356E;ENSP00000412977:Q1356E	ENSP00000335469:Q1356E	Q	-	1	0	PLCH1	156682353	0.022000	0.18835	0.001000	0.08648	0.041000	0.13682	2.101000	0.41787	0.634000	0.30469	0.585000	0.79938	CAG		0.403	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1		NM_014996		32	183	0	0	0	0.013726	0	32	183		
TRIM59	286827	broad.mit.edu	37	3	160156857	160156857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:160156857G>A	ENST00000309784.4	-	3	300	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	TRIM59_ENST00000543469.1_Nonsense_Mutation_p.Q39*|RP11-432B6.3_ENST00000483754.1_Nonsense_Mutation_p.Q39*	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	39					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q39*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCAGATGCCTGAAGAATGTTT	0.368																																						uc003fdm.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(115-117)CAG>TAG		tripartite motif-containing 59							69.0	70.0	69.0					3																	160156857		2203	4300	6503	SO:0001587	stop_gained	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156857G>A	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.115C>T	3.37:g.160156857G>A	ENSP00000311219:p.Gln39*					IFT80_uc003fda.2_RNA	p.Q39*	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	310	-			39			RING-type.		A8K5G9|D3DNL9	Nonsense_Mutation	SNP	ENST00000309784.4	37	c.115C>T	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	G	33	5.272416	0.95429	.	.	ENSG00000213186	ENST00000543469;ENST00000309784;ENST00000479460;ENST00000471396;ENST00000496222;ENST00000471155;ENST00000494486;ENST00000468542	.	.	.	6.17	5.29	0.74685	.	0.264314	0.41500	D	0.000879	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.282	15.6661	0.77230	0.0669:0.0:0.933:0.0	.	.	.	.	X	39;39;39;39;67;39;39;46	.	.	Q	-	1	0	TRIM59	161639551	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.258000	0.51507	2.941000	0.99782	0.655000	0.94253	CAG		0.368	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1		NM_173084		18	131	0	0	0	0.008871	0	18	131		
PDCD10	11235	broad.mit.edu	37	3	167414911	167414911	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:167414911C>G	ENST00000392750.2	-	5	571	c.154G>C	c.(154-156)Gaa>Caa	p.E52Q	PDCD10_ENST00000470131.1_Missense_Mutation_p.E52Q|PDCD10_ENST00000497056.2_Missense_Mutation_p.E52Q|PDCD10_ENST00000473645.2_Missense_Mutation_p.E52Q|PDCD10_ENST00000471885.1_Missense_Mutation_p.E52Q|PDCD10_ENST00000461494.1_Missense_Mutation_p.E52Q|PDCD10_ENST00000492396.1_5'UTR|PDCD10_ENST00000487947.2_Missense_Mutation_p.E52Q	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	52					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.E52Q(1)		central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TTTTCTTTTTCAGCCTATAAT	0.343																																						uc003fex.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|central_nervous_system(1)	2						c.(154-156)GAA>CAA		programmed cell death 10							70.0	73.0	72.0					3																	167414911		2203	4300	6503	SO:0001583	missense	11235	Familial_Cerebral_Cavernous_Angioma			angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	g.chr3:167414911C>G	AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.154G>C	3.37:g.167414911C>G	ENSP00000376506:p.Glu52Gln					PDCD10_uc003fez.2_Missense_Mutation_p.E52Q|PDCD10_uc003fey.2_Missense_Mutation_p.E52Q	p.E52Q	NM_007217	NP_009148	Q9BUL8	PDC10_HUMAN			5	552	-			52					A8K515|D3DNN5|O14811	Missense_Mutation	SNP	ENST00000392750.2	37	c.154G>C	CCDS3202.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.032918|5.032918	0.93575|0.93575	.|.	.|.	ENSG00000114209|ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000462725;ENST00000492139;ENST00000464360|ENST00000479121	T;T;T;T;T;T;T;T;T;T;T|.	0.62941|.	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78162|.	0.4240|.	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|.	0.75997|.	-0.3120|.	10|.	0.87932|.	D|.	0|.	-21.5584|-21.5584	20.2768|20.2768	0.98488|0.98488	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	52|.	Q9BUL8|.	PDC10_HUMAN|.	Q|S	52|32	ENSP00000376506:E52Q;ENSP00000418317:E52Q;ENSP00000420553:E52Q;ENSP00000420021:E52Q;ENSP00000417202:E52Q;ENSP00000417118:E52Q;ENSP00000420266:E52Q;ENSP00000417876:E52Q;ENSP00000420424:E52Q;ENSP00000420014:E52Q;ENSP00000418160:E52Q|.	ENSP00000376506:E52Q|.	E|X	-|-	1|2	0|2	PDCD10|PDCD10	168897605|168897605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.487000|7.487000	0.81328|0.81328	2.808000|2.808000	0.96608|0.96608	0.650000|0.650000	0.86243|0.86243	GAA|TGA		0.343	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2		NM_007217		18	89	0	0	0	0.006122	0	18	89		
GOLIM4	27333	broad.mit.edu	37	3	167759263	167759263	+	Splice_Site	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:167759263C>G	ENST00000470487.1	-	6	1207		c.e6-1		GOLIM4_ENST00000309027.4_Splice_Site	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4						transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.?(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TATACAGTCTCTATTTTAGAA	0.318																																						uc003ffe.2		NaN																	1	Unknown(1)		urinary_tract(1)	breast(4)|skin(1)	5						c.e6-1		golgi integral membrane protein 4							147.0	130.0	136.0					3																	167759263		2203	4298	6501	SO:0001630	splice_region_variant	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167759263C>G	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.518-1G>C	3.37:g.167759263C>G						GOLIM4_uc011bpe.1_Splice_Site_p.E173_splice|GOLIM4_uc011bpf.1_Splice_Site_p.E173_splice|GOLIM4_uc011bpg.1_Splice_Site_p.E173_splice	p.E173_splice	NM_014498	NP_055313	O00461	GOLI4_HUMAN			6	862	-									Splice_Site	SNP	ENST00000470487.1	37	c.518_splice	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787467	0.70337	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1847	0.89789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GOLIM4	169241957	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.839000	0.75364	2.545000	0.85829	0.644000	0.83932	.		0.318	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			Intron	12	81	0	0	0	0.010729	0	12	81		
MECOM	2122	broad.mit.edu	37	3	168807914	168807915	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:168807914_168807915TC>AT	ENST00000464456.1	-	13	3883_3884	c.2683_2684GA>AT	c.(2683-2685)GAa>ATa	p.E895I	MECOM_ENST00000472280.1_Missense_Mutation_p.E905I|MECOM_ENST00000460814.1_Missense_Mutation_p.E895I|MECOM_ENST00000392736.3_Missense_Mutation_p.E904I|MECOM_ENST00000494292.1_Missense_Mutation_p.E1083I|MECOM_ENST00000264674.3_Missense_Mutation_p.E969I|MECOM_ENST00000433243.2_Missense_Mutation_p.E905I|MECOM_ENST00000468789.1_Missense_Mutation_p.E904I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E904V(1)|p.E904K(1)|p.E904I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATCATTGTCTTCATCCTCCTCA	0.401																																						uc003ffi.3		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(2710-2712)GAA>ATA		MDS1 and EVI1 complex locus isoform b																																				SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168807914_168807915TC>AT	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2683_2684delinsAT	3.37:g.168807914_168807915delinsAT	ENSP00000419770:p.Glu895Ile					MECOM_uc010hwk.1_Missense_Mutation_p.E918I|MECOM_uc003ffj.3_Missense_Mutation_p.E969I|MECOM_uc011bpi.1_Missense_Mutation_p.E896I|MECOM_uc003ffn.3_Missense_Mutation_p.E904I|MECOM_uc003ffk.2_Missense_Mutation_p.E895I|MECOM_uc003ffl.2_Missense_Mutation_p.E1055I|MECOM_uc011bpj.1_Missense_Mutation_p.E1092I|MECOM_uc011bpk.1_Missense_Mutation_p.E894I	p.E904I	NM_005241	NP_005232	Q03112	EVI1_HUMAN			14	2979_2980	-			904			Asp/Glu-rich (acidic).		Q13466|Q6FH90	Missense_Mutation	DNP	ENST00000464456.1	37	c.2710_2711GA>AT	CCDS54669.1																																																																																				0.401	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1		NM_005241, NM_004991		160	226	0	0	0	0.004672	0	160	226		
ECE2	9718	broad.mit.edu	37	3	184009972	184009972	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:184009972C>T	ENST00000402825.3	+	19	2598	c.2598C>T	c.(2596-2598)ttC>ttT	p.F866F	ECE2_ENST00000404464.3_Silent_p.F748F|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Silent_p.F794F|ECE2_ENST00000359140.4_Silent_p.F719F	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	866	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.F866F(1)|p.F719F(1)|p.F794F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCGGCACTTCGGCTGCCCTG	0.657																																						uc003fni.3		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	ovary(2)|skin(2)	4						c.(2596-2598)TTC>TTT		endothelin converting enzyme 2 isoform A							45.0	46.0	46.0					3																	184009972		2203	4300	6503	SO:0001819	synonymous_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184009972C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2598C>T	3.37:g.184009972C>T						ECE2_uc003fnl.3_Silent_p.F794F|ECE2_uc003fnm.3_Silent_p.F748F|ECE2_uc003fnk.3_Silent_p.F719F	p.F866F	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		19	2636	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		866			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	c.2598C>T	CCDS3256.2																																																																																				0.657	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3		NM_014693		29	154	0	0	0	0.009535	0	29	154		
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																						uc003fpd.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)		0						c.(16-18)TCG>TTG		hypothetical protein LOC285382							16.0	17.0	17.0					3																	184870595		2196	4292	6488	SO:0001583	missense	285382							g.chr3:184870595G>A		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>T	3.37:g.184870595G>A	ENSP00000334974:p.Ser6Leu						p.S6L	NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN			1	208	-			6					B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	c.17C>T	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636714	0.14386	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	T	0.20577	0.0495	N	0.08118	0	0.24817	N	0.992606	B	0.18013	0.025	B	0.08055	0.003	T	0.16364	-1.0405	9	0.22109	T	0.4	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	6	A6NLC5	CC070_HUMAN	L	6	.	ENSP00000334974:S6L	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG		0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1		NM_001025266		23	27	0	0	0	0.004656	0	23	27		
DNAJB11	51726	broad.mit.edu	37	3	186299204	186299204	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:186299204G>A	ENST00000439351.1	+	6	1430	c.501G>A	c.(499-501)cgG>cgA	p.R167R	DNAJB11_ENST00000265028.3_Silent_p.R167R			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	167					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R167R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CTGGCAAACGGAAGTGCAATT	0.517																																						uc003fqi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|lung(1)	2						c.(499-501)CGG>CGA		DnaJ (Hsp40) homolog, subfamily B, member 11							99.0	93.0	95.0					3																	186299204		2203	4300	6503	SO:0001819	synonymous_variant	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186299204G>A	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.501G>A	3.37:g.186299204G>A							p.R167R	NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	5	721	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		167					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Silent	SNP	ENST00000439351.1	37	c.501G>A	CCDS3277.1																																																																																				0.517	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1				24	158	0	0	0	0.00333	0	24	158		
RFC4	5984	broad.mit.edu	37	3	186510677	186510677	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:186510677G>A	ENST00000392481.2	-	6	751	c.470C>T	c.(469-471)tCa>tTa	p.S157L	RFC4_ENST00000433496.1_Missense_Mutation_p.S157L|RFC4_ENST00000296273.2_Missense_Mutation_p.S157L	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	157					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.S157L(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTGAGCAGCTGAGGTCATAGA	0.428																																						uc003fqz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(469-471)TCA>TTA		replication factor C 4							89.0	79.0	82.0					3																	186510677		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186510677G>A		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.470C>T	3.37:g.186510677G>A	ENSP00000376272:p.Ser157Leu					RFC4_uc011bsc.1_Missense_Mutation_p.S157L|RFC4_uc011bsd.1_Missense_Mutation_p.S157L	p.S157L	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	6	693	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		157					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.470C>T	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441889	0.63067	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000418288;ENST00000447345	D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2	6.03	6.03	0.97812	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.332110	0.32918	N	0.005489	D	0.89681	0.6785	N	0.20807	0.61	0.46437	D	0.999045	B;B	0.30146	0.27;0.27	B;B	0.36030	0.216;0.216	D	0.86517	0.1813	10	0.33940	T	0.23	.	18.0604	0.89375	0.0:0.0:1.0:0.0	.	157;157	B4DM41;P35249	.;RFC4_HUMAN	L	157	ENSP00000399769:S157L;ENSP00000376272:S157L;ENSP00000296273:S157L;ENSP00000411300:S157L;ENSP00000413065:S157L	ENSP00000296273:S157L	S	-	2	0	RFC4	187993371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.777000	0.62361	2.854000	0.98071	0.655000	0.94253	TCA		0.428	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1		NM_002916		13	87	0	0	0	0.013537	0	13	87		
RFC4	5984	broad.mit.edu	37	3	186512523	186512523	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:186512523C>T	ENST00000392481.2	-	5	615	c.334G>A	c.(334-336)Gat>Aat	p.D112N	RFC4_ENST00000433496.1_Missense_Mutation_p.D112N|RFC4_ENST00000296273.2_Missense_Mutation_p.D112N	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	112					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.D112N(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CCACGTTCATCAGATGCATTT	0.368																																						uc003fqz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(334-336)GAT>AAT		replication factor C 4							136.0	129.0	131.0					3																	186512523		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186512523C>T		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.334G>A	3.37:g.186512523C>T	ENSP00000376272:p.Asp112Asn					RFC4_uc011bsc.1_Missense_Mutation_p.D112N|RFC4_uc011bsd.1_Missense_Mutation_p.D112N	p.D112N	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	5	557	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		112					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.334G>A	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062918	0.93898	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000418288;ENST00000447345;ENST00000427785	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	6.06	4.2	0.49525	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	M	0.72479	2.2	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.77004	0.982;0.989	T	0.62416	-0.6859	10	0.52906	T	0.07	.	9.0365	0.36291	0.1493:0.773:0.0:0.0777	.	112;112	B4DM41;P35249	.;RFC4_HUMAN	N	112	ENSP00000399769:D112N;ENSP00000376272:D112N;ENSP00000296273:D112N;ENSP00000411300:D112N;ENSP00000413065:D112N;ENSP00000407982:D112N	ENSP00000296273:D112N	D	-	1	0	RFC4	187995217	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.880000	0.63107	2.871000	0.98454	0.655000	0.94253	GAT		0.368	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1		NM_002916		16	101	0	0	0	0.00499	0	16	101		
TPRG1	285386	broad.mit.edu	37	3	188925327	188925327	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:188925327C>G	ENST00000345063.3	+	2	321	c.154C>G	c.(154-156)Ctt>Gtt	p.L52V	TPRG1_ENST00000433971.1_Missense_Mutation_p.L52V	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	52						cytoplasm (GO:0005737)		p.L52V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CGAATCAACTCTTTACCCCAA	0.438																																						uc003frv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(154-156)CTT>GTT		tumor protein p63 regulated 1							219.0	194.0	202.0					3																	188925327		2203	4300	6503	SO:0001583	missense	285386							g.chr3:188925327C>G	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"""family with sequence similarity 79, member B"""	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.154C>G	3.37:g.188925327C>G	ENSP00000341031:p.Leu52Val					TPRG1_uc003frw.1_Missense_Mutation_p.L52V	p.L52V	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	7	1381	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	52						Missense_Mutation	SNP	ENST00000345063.3	37	c.154C>G	CCDS3292.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737044	0.49045	.	.	ENSG00000188001	ENST00000433971;ENST00000412373;ENST00000345063;ENST00000456832	.	.	.	6.17	5.31	0.75309	.	0.497073	0.22782	N	0.055703	T	0.35038	0.0918	L	0.32530	0.975	0.32805	D	0.500611	P	0.36144	0.539	B	0.31191	0.125	T	0.52726	-0.8537	9	0.52906	T	0.07	-13.4709	11.5631	0.50790	0.0:0.9189:0.0:0.0811	.	52	Q6ZUI0	TPRG1_HUMAN	V	52	.	ENSP00000341031:L52V	L	+	1	0	TPRG1	190408021	0.822000	0.29219	0.945000	0.38365	0.967000	0.64934	1.395000	0.34520	1.637000	0.50538	0.655000	0.94253	CTT		0.438	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1		NM_198485		48	185	0	0	0	0.01441	0	48	185		
OPA1	4976	broad.mit.edu	37	3	193353228	193353228	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:193353228G>A	ENST00000392438.3	+	7	934	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	OPA1_ENST00000361828.2_Missense_Mutation_p.E252K|OPA1_ENST00000361510.2_Missense_Mutation_p.E289K|OPA1_ENST00000361150.2_Missense_Mutation_p.E235K|OPA1_ENST00000361715.2_Missense_Mutation_p.E253K|OPA1_ENST00000361908.3_Missense_Mutation_p.E271K	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	234					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.E289K(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GAGAATCTTGGAACGATTAGA	0.289																																						uc003ftm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(700-702)GAA>AAA		optic atrophy 1 isoform 1							78.0	88.0	85.0					3																	193353228		2202	4297	6499	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193353228G>A	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.700G>A	3.37:g.193353228G>A	ENSP00000376233:p.Glu234Lys					OPA1_uc003ftg.2_Missense_Mutation_p.E289K|OPA1_uc003fth.2_Missense_Mutation_p.E253K|OPA1_uc003fti.2_Missense_Mutation_p.E271K|OPA1_uc003ftj.2_Missense_Mutation_p.E252K|OPA1_uc003ftk.2_Missense_Mutation_p.E235K|OPA1_uc003ftl.2_Missense_Mutation_p.E216K|OPA1_uc003ftn.2_Missense_Mutation_p.E198K	p.E234K	NM_015560	NP_056375	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	7	934	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		234			Mitochondrial intermembrane (By similarity).|Potential.		D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.700G>A	CCDS43186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.909786|5.909786	0.97093|0.97093	.|.	.|.	ENSG00000198836|ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150|ENST00000434811	D;D;D;D;D;D|.	0.96168|.	-3.55;-3.49;-3.47;-3.52;-3.54;-3.93|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.043242|.	0.85682|.	D|.	0.000000|.	T|.	0.81931|.	0.4927|.	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	P;D;P;P;P;D;D;D|.	0.67145|.	0.952;0.996;0.952;0.952;0.816;0.99;0.996;0.974|.	P;P;P;P;B;P;P;P|.	0.61722|.	0.829;0.836;0.829;0.829;0.406;0.893;0.874;0.829|.	T|.	0.81241|.	-0.1022|.	10|.	0.87932|.	D|.	0|.	-24.8474|-24.8474	19.4659|19.4659	0.94939|0.94939	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	198;234;216;235;252;271;253;289|.	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5|.	.;OPA1_HUMAN;.;.;.;.;.;.|.	K|X	271;234;289;253;252;235|151	ENSP00000354681:E271K;ENSP00000376233:E234K;ENSP00000355324:E289K;ENSP00000355311:E253K;ENSP00000354429:E252K;ENSP00000354781:E235K|.	ENSP00000354781:E235K|.	E|W	+|+	1|3	0|0	OPA1|OPA1	194835922|194835922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.837000|9.837000	0.99465|0.99465	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.289	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2		NM_130837		18	120	0	0	0	0.007413	0	18	120		
OPA1	4976	broad.mit.edu	37	3	193364936	193364936	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:193364936G>C	ENST00000392438.3	+	17	1906	c.1672G>C	c.(1672-1674)Gag>Cag	p.E558Q	OPA1_ENST00000361828.2_Missense_Mutation_p.E576Q|OPA1_ENST00000361510.2_Missense_Mutation_p.E613Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E559Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E577Q|OPA1_ENST00000361908.3_Missense_Mutation_p.E595Q	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	558	Dynamin-type G.				apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.E613Q(2)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AATGGTACGAGAGTCTGTTGA	0.358																																						uc003ftm.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|cervix(1)		0						c.(1672-1674)GAG>CAG		optic atrophy 1 isoform 1							83.0	83.0	83.0					3																	193364936		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193364936G>C	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1672G>C	3.37:g.193364936G>C	ENSP00000376233:p.Glu558Gln					OPA1_uc003ftg.2_Missense_Mutation_p.E613Q|OPA1_uc003fth.2_Missense_Mutation_p.E577Q|OPA1_uc003fti.2_Missense_Mutation_p.E595Q|OPA1_uc003ftj.2_Missense_Mutation_p.E576Q|OPA1_uc003ftk.2_Missense_Mutation_p.E559Q|OPA1_uc003ftl.2_Missense_Mutation_p.E540Q|OPA1_uc003ftn.2_Missense_Mutation_p.E522Q	p.E558Q	NM_015560	NP_056375	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	17	1906	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		558			Mitochondrial intermembrane (By similarity).		D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.1672G>C	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813097	0.70912	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75;-3.75;-3.75	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.97247	0.9100	M	0.68317	2.08	0.80722	D	1	B;D;P;P;D;P;D;D	0.76494	0.281;0.998;0.586;0.586;0.998;0.586;0.992;0.999	B;P;B;B;P;P;P;D	0.70227	0.294;0.796;0.355;0.411;0.889;0.48;0.778;0.968	D	0.96911	0.9667	10	0.46703	T	0.11	-19.6239	18.7005	0.91618	0.0:0.0:1.0:0.0	.	522;558;540;559;576;595;577;613	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	Q	595;558;613;577;576;559	ENSP00000354681:E595Q;ENSP00000376233:E558Q;ENSP00000355324:E613Q;ENSP00000355311:E577Q;ENSP00000354429:E576Q;ENSP00000354781:E559Q	ENSP00000354781:E559Q	E	+	1	0	OPA1	194847630	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	9.869000	0.99810	2.664000	0.90586	0.650000	0.86243	GAG		0.358	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2		NM_130837		4	63	0	0	0	0.000602	0	4	63		
DLG1	1739	broad.mit.edu	37	3	196778504	196778504	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:196778504C>T	ENST00000419354.1	-	25	2838	c.2552G>A	c.(2551-2553)aGa>aAa	p.R851K	DLG1_ENST00000314062.3_Missense_Mutation_p.R800K|DLG1_ENST00000448528.2_Missense_Mutation_p.R851K|DLG1_ENST00000422288.1_Missense_Mutation_p.R800K|DLG1_ENST00000357674.4_Missense_Mutation_p.R840K|DLG1_ENST00000392382.2_Missense_Mutation_p.R818K|DLG1_ENST00000443183.1_Missense_Mutation_p.R747K|DLG1_ENST00000346964.2_Missense_Mutation_p.R873K|DLG1_ENST00000450955.1_Missense_Mutation_p.R840K|DLG1_ENST00000452595.1_Missense_Mutation_p.R735K			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	851	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)	p.R873K(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		AAATGTTTTTCTGGCTTGTTC	0.328																																						uc003fxo.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(2551-2553)AGA>AAA		discs, large homolog 1 isoform 1							214.0	193.0	201.0					3																	196778504		2203	4300	6503	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196778504C>T	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2552G>A	3.37:g.196778504C>T	ENSP00000407531:p.Arg851Lys					DLG1_uc011bub.1_Missense_Mutation_p.R747K|DLG1_uc011buc.1_Missense_Mutation_p.R735K|DLG1_uc011bud.1_Missense_Mutation_p.R534K|DLG1_uc003fxn.3_Missense_Mutation_p.R873K|DLG1_uc011bue.1_Missense_Mutation_p.R839K|DLG1_uc010ial.2_Missense_Mutation_p.R851K	p.R851K	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	25	2742	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	851			Guanylate kinase-like.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.2552G>A	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384203	0.42308	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.43	4.56	0.56223	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.054944	0.64402	N	0.000002	T	0.26593	0.0650	N	0.16656	0.425	0.45791	D	0.998677	B;B;B;B;B	0.17667	0.001;0.023;0.006;0.002;0.003	B;B;B;B;B	0.25291	0.006;0.02;0.059;0.02;0.024	T	0.05289	-1.0894	10	0.09843	T	0.71	.	12.9991	0.58666	0.0:0.9223:0.0:0.0777	.	840;735;747;851;873	Q12959-4;E9PG21;E7EWL7;Q12959;Q12959-2	.;.;.;DLG1_HUMAN;.	K	873;864;840;838;800;851;735;800;851;747;818;840	ENSP00000345731:R873K;ENSP00000350303:R840K;ENSP00000321087:R800K;ENSP00000407531:R851K;ENSP00000398939:R735K;ENSP00000413238:R800K;ENSP00000391732:R851K;ENSP00000396658:R747K;ENSP00000376187:R818K;ENSP00000411278:R840K	ENSP00000321087:R800K	R	-	2	0	DLG1	198262901	0.986000	0.35501	1.000000	0.80357	0.985000	0.73830	0.903000	0.28475	1.282000	0.44496	0.555000	0.69702	AGA		0.328	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2		NM_004087		13	137	0	0	0	0.00245	0	13	137		
HAUS3	79441	broad.mit.edu	37	4	2233842	2233842	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:2233842G>C	ENST00000243706.4	-	5	1853	c.1624C>G	c.(1624-1626)Cta>Gta	p.L542V	POLN_ENST00000382865.1_5'Flank|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.L542V|HAUS3_ENST00000506763.1_Intron|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	542					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.L542V(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGATGATTTAGCTTATTCAGT	0.264																																						uc003ges.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|breast(2)	4						c.(1624-1626)CTA>GTA		HAUS augmin-like complex, subunit 3							40.0	41.0	40.0					4																	2233842		2193	4269	6462	SO:0001583	missense	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2233842G>C	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1624C>G	4.37:g.2233842G>C	ENSP00000243706:p.Leu542Val					POLN_uc003ger.2_5'Flank|POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Intron|HAUS3_uc003get.1_Missense_Mutation_p.L542V	p.L542V	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN			5	1854	-			542					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	c.1624C>G	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135515	0.56828	.	.	ENSG00000214367	ENST00000243706;ENST00000443786	T;T	0.68479	-0.33;-0.33	6.03	1.31	0.21738	.	0.000000	0.64402	U	0.000019	T	0.75679	0.3882	M	0.66939	2.045	0.44380	D	0.997281	D	0.89917	1.0	D	0.79784	0.993	T	0.71948	-0.4438	10	0.44086	T	0.13	-20.6744	9.4913	0.38962	0.3545:0.0:0.6455:0.0	.	542	Q68CZ6	HAUS3_HUMAN	V	542	ENSP00000243706:L542V;ENSP00000392903:L542V	ENSP00000243706:L542V	L	-	1	2	HAUS3	2203640	0.940000	0.31905	0.938000	0.37757	0.863000	0.49368	0.439000	0.21575	0.129000	0.18514	-0.259000	0.10710	CTA		0.264	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1		NM_024511		10	60	0	0	0	0.013537	0	10	60		
HTT	3064	broad.mit.edu	37	4	3208288	3208288	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:3208288C>T	ENST00000355072.5	+	43	5929	c.5784C>T	c.(5782-5784)atC>atT	p.I1928I		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1928					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.I1928I(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAGATCTGATCAGCCTTTCCC	0.473																																						uc011bvq.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|ovary(1)|lung(1)	4						c.(5788-5790)ATC>ATT		huntingtin							100.0	98.0	99.0					4																	3208288		1973	4162	6135	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3208288C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5784C>T	4.37:g.3208288C>T							p.I1930I	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	44	5935	+		all_epithelial(65;0.18)	1928					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.5790C>T	CCDS43206.1																																																																																				0.473	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2		NM_002111		25	112	0	0	0	0.00278	0	25	112		
MAN2B2	23324	broad.mit.edu	37	4	6606942	6606942	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:6606942G>A	ENST00000285599.3	+	11	1736	c.1700G>A	c.(1699-1701)cGc>cAc	p.R567H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R516H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	567					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.R567H(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CAATTTGGCCGCAGGCTGAGG	0.617																																						uc003gjf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1699-1701)CGC>CAC		mannosidase, alpha, class 2B, member 2							51.0	53.0	53.0					4																	6606942		2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6606942G>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1700G>A	4.37:g.6606942G>A	ENSP00000285599:p.Arg567His					MAN2B2_uc003gje.1_Missense_Mutation_p.R567H|MAN2B2_uc011bwf.1_Missense_Mutation_p.R516H	p.R567H	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN			11	1736	+			567					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.1700G>A	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.27|12.27	1.888510|1.888510	0.33348|0.33348	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|D;D	.|0.83506	.|-1.73;-1.73	4.46|4.46	2.66|2.66	0.31614|0.31614	.|Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	.|2.046720	.|0.02250	.|N	.|0.066557	D|D	0.89969|0.89969	0.6869|0.6869	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|D;D;P	.|0.89917	.|1.0;1.0;0.913	.|D;D;B	.|0.68621	.|0.959;0.959;0.287	T|T	0.72218|0.72218	-0.4357|-0.4357	5|10	.|0.41790	.|T	.|0.15	-8.392|-8.392	12.2707|12.2707	0.54704|0.54704	0.0:0.0:0.6925:0.3075|0.0:0.0:0.6925:0.3075	.|.	.|516;567;567	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	T|H	566|567;516	.|ENSP00000285599:R567H;ENSP00000423129:R516H	.|ENSP00000285599:R567H	A|R	+|+	1|2	0|0	MAN2B2|MAN2B2	6657843|6657843	0.002000|0.002000	0.14202|0.14202	0.102000|0.102000	0.21198|0.21198	0.451000|0.451000	0.32288|0.32288	0.818000|0.818000	0.27295|0.27295	0.291000|0.291000	0.22468|0.22468	0.491000|0.491000	0.48974|0.48974	GCA|CGC		0.617	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2		NM_015274		14	35	0	0	0	0.014323	0	14	35		
CC2D2A	57545	broad.mit.edu	37	4	15529226	15529226	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:15529226G>A	ENST00000503292.1	+	13	1486	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000424120.1_Missense_Mutation_p.D436N|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D436N|CC2D2A_ENST00000389652.5_Missense_Mutation_p.D387N	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	436					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)		p.D387N(1)|p.D436N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CCAGTTATATGACCAGTACCT	0.408																																						uc010idv.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	pancreas(2)|ovary(1)	3						c.(1306-1308)GAC>AAC		coiled-coil and C2 domain containing 2A isoform							72.0	67.0	68.0					4																	15529226		1920	4132	6052	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15529226G>A	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1306G>A	4.37:g.15529226G>A	ENSP00000421809:p.Asp436Asn					CC2D2A_uc003gnx.2_Missense_Mutation_p.D387N|CC2D2A_uc003gnv.2_Missense_Mutation_p.D436N	p.D436N	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN			13	1551	+			436					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.1306G>A	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772358	0.90108	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.78	5.78	0.91487	.	0.155800	0.56097	D	0.000036	T	0.54775	0.1879	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.52859	-0.8519	10	0.62326	D	0.03	.	20.3754	0.98918	0.0:0.0:1.0:0.0	.	436;387	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	N	436;436;387;387;436;436;387	ENSP00000403465:D436N;ENSP00000398391:D436N;ENSP00000422875:D436N;ENSP00000421809:D436N;ENSP00000374303:D387N	ENSP00000374303:D387N	D	+	1	0	CC2D2A	15138324	1.000000	0.71417	0.992000	0.48379	0.913000	0.54294	5.083000	0.64456	2.894000	0.99253	0.591000	0.81541	GAC		0.408	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2		NM_001080522		6	31	0	0	0	0.001984	0	6	31		
PCDH7	5099	broad.mit.edu	37	4	30723906	30723906	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:30723906C>T	ENST00000361762.2	+	1	1870	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	PCDH7_ENST00000543491.1_Missense_Mutation_p.R288C	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	288	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R288C(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CGACCCGCCTCGCTCCTCGCA	0.672																																						uc003gsk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(862-864)CGC>TGC		protocadherin 7 isoform a precursor							6.0	9.0	8.0					4																	30723906		2127	4209	6336	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723906C>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.862C>T	4.37:g.30723906C>T	ENSP00000355243:p.Arg288Cys					PCDH7_uc011bxw.1_Intron|PCDH7_uc011bxx.1_Missense_Mutation_p.R288C	p.R288C	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	1870	+			288			Cadherin 2.|Extracellular (Potential).		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.862C>T	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466122	0.84425	.	.	ENSG00000169851	ENST00000361762;ENST00000543491	T;T	0.55234	0.53;0.53	4.95	4.95	0.65309	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.82903	0.5138	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89724	0.3921	9	0.87932	D	0	.	18.1853	0.89791	0.0:1.0:0.0:0.0	.	288;288	F5GWJ1;O60245	.;PCDH7_HUMAN	C	288	ENSP00000355243:R288C;ENSP00000441802:R288C	ENSP00000355243:R288C	R	+	1	0	PCDH7	30333004	0.993000	0.37304	0.248000	0.24265	0.997000	0.91878	3.100000	0.50275	2.272000	0.75746	0.455000	0.32223	CGC		0.672	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1		NM_032457, NM_002589		3	5	0	0	0	0.004672	0	3	5		
GABRG1	2565	broad.mit.edu	37	4	46060556	46060556	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:46060556G>C	ENST00000295452.4	-	6	876	c.709C>G	c.(709-711)Cag>Gag	p.Q237E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	237					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Q237E(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AATGCAAACTGATATAATCTC	0.353																																						uc003gxb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(709-711)CAG>GAG		gamma-aminobutyric acid A receptor, gamma 1							89.0	86.0	87.0					4																	46060556		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060556G>C	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.709C>G	4.37:g.46060556G>C	ENSP00000295452:p.Gln237Glu						p.Q237E	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	6	861	-			237			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.709C>G	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480299	0.84747	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.73575	-0.76	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.057035	0.64402	D	0.000001	T	0.80019	0.4547	L	0.56280	1.765	0.58432	D	0.999999	P	0.37663	0.604	P	0.47430	0.547	T	0.80386	-0.1404	10	0.87932	D	0	.	19.1642	0.93548	0.0:0.0:1.0:0.0	.	237	Q8N1C3	GBRG1_HUMAN	E	237	ENSP00000295452:Q237E	ENSP00000295452:Q237E	Q	-	1	0	GABRG1	45755313	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.776000	0.99001	2.775000	0.95449	0.650000	0.86243	CAG		0.353	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1		NM_173536		16	74	0	0	0	0.00499	0	16	74		
GABRA4	2557	broad.mit.edu	37	4	46967025	46967025	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:46967025G>C	ENST00000264318.3	-	8	2078	c.1096C>G	c.(1096-1098)Cca>Gca	p.P366A		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	366					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P366A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTCTGCACTGGAGCAGCGGGA	0.433																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1096-1098)CCA>GCA		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						94.0	100.0	98.0					4																	46967025		2203	4299	6502	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46967025G>C		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1096C>G	4.37:g.46967025G>C	ENSP00000264318:p.Pro366Ala						p.P366A	NM_000809	NP_000800	P48169	GBRA4_HUMAN			8	1235	-			366			Cytoplasmic (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1096C>G	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	8.341	0.828637	0.16749	.	.	ENSG00000109158	ENST00000264318	D	0.84944	-1.92	4.81	3.95	0.45737	Neurotransmitter-gated ion-channel transmembrane domain (2);	.	.	.	.	T	0.65080	0.2657	N	0.04508	-0.205	0.40152	D	0.976964	B	0.10296	0.003	B	0.18871	0.023	T	0.59958	-0.7356	9	0.10636	T	0.68	.	8.4271	0.32735	0.084:0.1542:0.7618:0.0	.	366	P48169	GBRA4_HUMAN	A	366	ENSP00000264318:P366A	ENSP00000264318:P366A	P	-	1	0	GABRA4	46661782	0.699000	0.27786	0.822000	0.32727	0.046000	0.14306	1.037000	0.30241	2.481000	0.83766	0.591000	0.81541	CCA		0.433	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1				20	83	0	0	0	0.00278	0	20	83		
OCIAD2	132299	broad.mit.edu	37	4	48901920	48901920	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:48901920G>C	ENST00000508632.1	-	3	321	c.89C>G	c.(88-90)tCa>tGa	p.S30*	OCIAD2_ENST00000508069.2_Intron|OCIAD2_ENST00000273860.4_Nonsense_Mutation_p.S30*	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	30	OCIA.					endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)		p.S30*(1)		kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						GTGCAGTTTTGATTTTGGACA	0.393																																						uc003gyt.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(88-90)TCA>TGA		OCIA domain containing 2 isoform 1							167.0	158.0	161.0					4																	48901920		2203	4300	6503	SO:0001587	stop_gained	132299					endosome		g.chr4:48901920G>C	BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.89C>G	4.37:g.48901920G>C	ENSP00000423014:p.Ser30*					OCIAD2_uc003gyu.2_Nonsense_Mutation_p.S30*	p.S30*	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN			3	292	-			30			OCIA.		B4DPE7|Q8N544	Nonsense_Mutation	SNP	ENST00000508632.1	37	c.89C>G	CCDS33981.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070259	0.76301	.	.	ENSG00000145247	ENST00000508632;ENST00000273860;ENST00000381464	.	.	.	4.74	4.74	0.60224	.	0.261326	0.31747	N	0.007128	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.0064	13.4018	0.60887	0.0:0.0:1.0:0.0	.	.	.	.	X	30	.	.	S	-	2	0	OCIAD2	48596677	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	4.960000	0.63673	2.613000	0.88420	0.462000	0.41574	TCA		0.393	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361984.5		NM_152398		10	112	0	0	0	0.010729	0	10	112		
TMPRSS11F	389208	broad.mit.edu	37	4	68935699	68935699	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:68935699G>C	ENST00000356291.2	-	6	600	c.541C>G	c.(541-543)Ctt>Gtt	p.L181V	UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	181						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.L181V(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CTGTTGAGAAGATTCCTCATC	0.333																																						uc003hdt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(541-543)CTT>GTT		transmembrane protease, serine 11F							157.0	159.0	159.0					4																	68935699		2202	4300	6502	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68935699G>C	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.541C>G	4.37:g.68935699G>C	ENSP00000348639:p.Leu181Val					LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	p.L181V	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			6	590	-			181			Extracellular (Potential).		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.541C>G	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831629	0.32329	.	.	ENSG00000198092	ENST00000356291	D	0.88664	-2.41	5.96	4.25	0.50352	SEA (1);	0.259797	0.27522	N	0.018993	T	0.75576	0.3868	N	0.08118	0	0.31971	N	0.607154	B	0.28055	0.199	B	0.27380	0.079	T	0.72054	-0.4406	10	0.23891	T	0.37	.	9.4003	0.38428	0.1638:0.0:0.8362:0.0	.	181	Q6ZWK6	TM11F_HUMAN	V	181	ENSP00000348639:L181V	ENSP00000348639:L181V	L	-	1	0	TMPRSS11F	68618294	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	2.155000	0.42301	0.863000	0.35553	0.655000	0.94253	CTT		0.333	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1		NM_207407		38	205	0	0	0	0.013114	0	38	205		
CXCL8	3576	broad.mit.edu	37	4	74607297	74607297	+	Missense_Mutation	SNP	C	C	G	rs149273289		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:74607297C>G	ENST00000307407.3	+	2	256	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	IL8_ENST00000401931.1_Missense_Mutation_p.Q35E	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN		35					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of neutrophil chemotaxis (GO:0090023)|receptor internalization (GO:0031623)|regulation of cell adhesion (GO:0030155)|regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091)|response to endoplasmic reticulum stress (GO:0034976)|response to molecule of bacterial origin (GO:0002237)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|interleukin-8 receptor binding (GO:0005153)	p.Q35E(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)		ACTTAGATGTCAGTGCATAAA	0.423																																						uc003hhe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(103-105)CAG>GAG		interleukin 8 precursor	Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744)						96.0	91.0	93.0					4																	74607297		2203	4300	6503	SO:0001583	missense	3576				angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|G-protein coupled receptor protein signaling pathway|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication	extracellular space|intracellular	chemokine activity|interleukin-8 receptor binding	g.chr4:74607297C>G																												ENST00000307407.3:c.103C>G	4.37:g.74607297C>G	ENSP00000306512:p.Gln35Glu					IL8_uc011cbh.1_Missense_Mutation_p.Q35E	p.Q35E	NM_000584	NP_000575	P10145	IL8_HUMAN	all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)	2	204	+	Breast(15;0.00102)		35					B2R4L8|Q6FGF6|Q6LAE6|Q96RG6|Q9C077|Q9UCE1|Q9UCR8|Q9UCR9|Q9UCS0	Missense_Mutation	SNP	ENST00000307407.3	37	c.103C>G	CCDS34005.1	.	.	.	.	.	.	.	.	.	.	C	8.783	0.928656	0.18131	.	.	ENSG00000169429	ENST00000307407;ENST00000401931	T;T	0.04406	3.73;3.63	4.96	3.12	0.35913	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.360470	0.33591	N	0.004745	T	0.06005	0.0156	.	.	.	0.22745	N	0.998786	P;P	0.34462	0.454;0.454	B;B	0.38156	0.266;0.266	T	0.23726	-1.0180	9	0.59425	D	0.04	-14.0456	10.4113	0.44294	0.149:0.7064:0.1446:0.0	.	35;35	C9J4T6;P10145	.;IL8_HUMAN	E	35	ENSP00000306512:Q35E;ENSP00000385908:Q35E	ENSP00000306512:Q35E	Q	+	1	0	IL8	74826161	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	2.153000	0.42282	1.236000	0.43740	-0.196000	0.12772	CAG		0.423	IL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322211.1				16	58	0	0	0	0.006122	0	16	58		
CXCL5	6374	broad.mit.edu	37	4	74863775	74863775	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:74863775G>C	ENST00000296027.4	-	3	477	c.280C>G	c.(280-282)Cca>Gca	p.P94A		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	94					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.P94A(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GGGGCTTCTGGATCAAGACAA	0.433																																						uc003hhk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(280-282)CCA>GCA		chemokine (C-X-C motif) ligand 5 precursor							87.0	95.0	93.0					4																	74863775		2203	4300	6503	SO:0001583	missense	6374				cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity	g.chr4:74863775G>C	X78686	CCDS34006.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163735		"""Endogenous ligands"""	10642	protein-coding gene	gene with protein product		600324	"""small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78)"""	SCYB5		7929219	Standard	NM_002994		Approved	ENA-78	uc003hhk.4	P42830		ENST00000296027.4:c.280C>G	4.37:g.74863775G>C	ENSP00000296027:p.Pro94Ala						p.P94A	NM_002994	NP_002985	P42830	CXCL5_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		3	398	-	Breast(15;0.00136)		94					Q96QE1	Missense_Mutation	SNP	ENST00000296027.4	37	c.280C>G	CCDS34006.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946976	0.34377	.	.	ENSG00000163735	ENST00000296027	T	0.12774	2.65	3.78	2.88	0.33553	Chemokine interleukin-8-like domain (3);	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.92169	3.28	0.36723	D	0.881281	D	0.89917	1.0	D	0.91635	0.999	T	0.57602	-0.7783	10	0.66056	D	0.02	.	9.2719	0.37677	0.0:0.2199:0.7801:0.0	.	94	P42830	CXCL5_HUMAN	A	94	ENSP00000296027:P94A	ENSP00000296027:P94A	P	-	1	0	CXCL5	75082639	0.909000	0.30893	0.994000	0.49952	0.290000	0.27261	1.858000	0.39408	1.958000	0.56883	0.306000	0.20318	CCA		0.433	CXCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362749.1		NM_002994		32	137	0	0	0	0.012213	0	32	137		
HPSE	10855	broad.mit.edu	37	4	84230599	84230599	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:84230599C>T	ENST00000405413.2	-	8	1076	c.940G>A	c.(940-942)Gat>Aat	p.D314N	HPSE_ENST00000513463.1_Missense_Mutation_p.D256N|HPSE_ENST00000311412.5_Missense_Mutation_p.D314N|HPSE_ENST00000512196.1_Missense_Mutation_p.D314N	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	314					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)	p.D314N(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	TCCAATACATCAGGGTTTAGA	0.279																																						uc003hoj.3		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|skin(1)	ovary(1)	1						c.(940-942)GAT>AAT		heparanase precursor	Heparin(DB01109)						58.0	64.0	62.0					4																	84230599		2202	4298	6500	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84230599C>T	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.940G>A	4.37:g.84230599C>T	ENSP00000384262:p.Asp314Asn					HPSE_uc010ika.2_Missense_Mutation_p.D256N|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.D57N|HPSE_uc011cct.1_Missense_Mutation_p.D314N|HPSE_uc003hok.3_Missense_Mutation_p.D314N	p.D314N	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	7	1039	-		Hepatocellular(203;0.114)	314					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.940G>A	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963418	0.34659	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	4.83	3.98	0.46160	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.428437	0.28332	N	0.015722	T	0.24661	0.0598	L	0.41573	1.285	0.41070	D	0.98544	B;B;B;B	0.26400	0.002;0.029;0.023;0.148	B;B;B;B	0.28784	0.009;0.048;0.028;0.094	T	0.03619	-1.1019	10	0.14656	T	0.56	-15.9878	13.6758	0.62454	0.0:0.9192:0.0:0.0808	.	314;256;256;314	E9PCA9;A9JIG7;E9PGR1;Q9Y251	.;.;.;HPSE_HUMAN	N	314;314;314;256	ENSP00000308107:D314N;ENSP00000384262:D314N;ENSP00000423265:D314N;ENSP00000421365:D256N	ENSP00000308107:D314N	D	-	1	0	HPSE	84449623	1.000000	0.71417	0.995000	0.50966	0.534000	0.34807	2.337000	0.43947	2.652000	0.90054	0.591000	0.81541	GAT		0.279	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2		NM_006665		15	74	0	0	0	0.006122	0	15	74		
HPSE	10855	broad.mit.edu	37	4	84231203	84231203	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:84231203C>G	ENST00000405413.2	-	7	1007	c.871G>C	c.(871-873)Gat>Cat	p.D291H	HPSE_ENST00000513463.1_Missense_Mutation_p.D233H|HPSE_ENST00000311412.5_Missense_Mutation_p.D291H|HPSE_ENST00000512196.1_Missense_Mutation_p.D291H	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	291				D -> G (in Ref. 11; BAD96706). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)	p.D291H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	GTAACTGAATCAATCACTTCT	0.308																																						uc003hoj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(871-873)GAT>CAT		heparanase precursor	Heparin(DB01109)						110.0	121.0	118.0					4																	84231203		2203	4298	6501	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84231203C>G	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.871G>C	4.37:g.84231203C>G	ENSP00000384262:p.Asp291His					HPSE_uc010ika.2_Missense_Mutation_p.D233H|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.D34H|HPSE_uc011cct.1_Missense_Mutation_p.D291H|HPSE_uc003hok.3_Missense_Mutation_p.D291H	p.D291H	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	6	970	-		Hepatocellular(203;0.114)	291	D -> G (in Ref. 9; BAD96706).				A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.871G>C	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015872	0.54468	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	4.88	4.88	0.63580	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.092321	0.85682	D	0.000000	T	0.78496	0.4292	M	0.89715	3.055	0.51482	D	0.999926	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.998;0.996;0.998	T	0.81897	-0.0722	10	0.66056	D	0.02	-21.6833	11.3414	0.49535	0.0:0.9154:0.0:0.0846	.	291;233;233;291	E9PCA9;A9JIG7;E9PGR1;Q9Y251	.;.;.;HPSE_HUMAN	H	291;291;291;233	ENSP00000308107:D291H;ENSP00000384262:D291H;ENSP00000423265:D291H;ENSP00000421365:D233H	ENSP00000308107:D291H	D	-	1	0	HPSE	84450227	0.991000	0.36638	1.000000	0.80357	0.913000	0.54294	1.638000	0.37165	2.545000	0.85829	0.491000	0.48974	GAT		0.308	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2		NM_006665		34	185	0	0	0	0.005524	0	34	185		
HPGDS	27306	broad.mit.edu	37	4	95223298	95223298	+	Splice_Site	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:95223298G>A	ENST00000295256.5	-	5	524	c.434C>T	c.(433-435)tCt>tTt	p.S145F	HPGDS_ENST00000514774.1_5'Flank	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	145	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)	p.S145F(1)		breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	CATACTCACAGAGTTACCAAT	0.363																																					Colon(86;1802 1843 17863 46794)	uc003hte.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(433-435)TCT>TTT		prostaglandin D2 synthase, hematopoietic	Glutathione(DB00143)						118.0	126.0	123.0					4																	95223298		2203	4299	6502	SO:0001630	splice_region_variant	27306				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	g.chr4:95223298G>A	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.435+1C>T	4.37:g.95223298G>A							p.S145F	NM_014485	NP_055300	O60760	HPGDS_HUMAN			5	525	-			145			GST C-terminal.		Q6FHT9	Missense_Mutation	SNP	ENST00000295256.5	37	c.434C>T	CCDS3640.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754801	0.49362	.	.	ENSG00000163106	ENST00000295256	T	0.02158	4.42	5.49	2.7	0.31948	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.664348	0.14996	N	0.286419	T	0.03827	0.0108	M	0.67953	2.075	0.43569	D	0.995898	B	0.15719	0.014	B	0.16722	0.016	T	0.24835	-1.0149	10	0.72032	D	0.01	.	8.0433	0.30534	0.0761:0.0:0.6321:0.2919	.	145	O60760	HPGDS_HUMAN	F	145	ENSP00000295256:S145F	ENSP00000295256:S145F	S	-	2	0	HPGDS	95442321	1.000000	0.71417	0.962000	0.40283	0.636000	0.38137	1.691000	0.37721	0.233000	0.21120	0.563000	0.77884	TCT		0.363	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1		NM_014485	Missense_Mutation	76	195	0	0	0	0.01441	0	76	195		
SEC24B	10427	broad.mit.edu	37	4	110442741	110442741	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:110442741C>T	ENST00000265175.5	+	14	2522	c.2467C>T	c.(2467-2469)Ctg>Ttg	p.L823L	SEC24B_ENST00000399100.2_Silent_p.L788L|SEC24B_ENST00000504968.2_Silent_p.L853L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	823					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.L788L(1)|p.L823L(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGCAGGACTTCTGCAATCCAG	0.383																																						uc003hzk.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|large_intestine(1)	3						c.(2467-2469)CTG>TTG		SEC24 (S. cerevisiae) homolog B isoform a							62.0	54.0	57.0					4																	110442741		1852	4101	5953	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110442741C>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2467C>T	4.37:g.110442741C>T						SEC24B_uc003hzl.2_Silent_p.L788L|SEC24B_uc011cfp.1_Silent_p.L853L|SEC24B_uc011cfq.1_Silent_p.L822L|SEC24B_uc011cfr.1_Silent_p.L787L	p.L823L	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	14	2522	+		Hepatocellular(203;0.217)	823					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.2467C>T	CCDS47124.1																																																																																				0.383	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2				11	31	0	0	0	0.001855	0	11	31		
NDST3	9348	broad.mit.edu	37	4	119163257	119163257	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:119163257G>C	ENST00000296499.5	+	12	2755	c.2352G>C	c.(2350-2352)caG>caC	p.Q784H		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	784	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.Q784H(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATGAAGTACAGAAGTTTCTAG	0.303																																						uc003ibx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(2350-2352)CAG>CAC		N-deacetylase/N-sulfotransferase (heparan							118.0	125.0	122.0					4																	119163257		2203	4299	6502	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119163257G>C	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.2352G>C	4.37:g.119163257G>C	ENSP00000296499:p.Gln784His						p.Q784H	NM_004784	NP_004775	O95803	NDST3_HUMAN			12	2755	+			784			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.2352G>C	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687417	0.68157	.	.	ENSG00000164100	ENST00000296499	T	0.55234	0.53	5.88	5.88	0.94601	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.78945	-0.2004	10	0.87932	D	0	.	13.428	0.61037	0.0714:0.0:0.9286:0.0	.	784	O95803	NDST3_HUMAN	H	784	ENSP00000296499:Q784H	ENSP00000296499:Q784H	Q	+	3	2	NDST3	119382705	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.524000	0.60552	2.778000	0.95560	0.655000	0.94253	CAG		0.303	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4		NM_004784		46	146	0	0	0	0.01441	0	46	146		
FAT4	79633	broad.mit.edu	37	4	126241888	126241888	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:126241888C>T	ENST00000394329.3	+	1	4335	c.4322C>T	c.(4321-4323)tCa>tTa	p.S1441L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1441	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1441L(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTGTCATTTCAGTGACTGCA	0.418																																						uc003ifj.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(4321-4323)TCA>TTA		FAT tumor suppressor homolog 4 precursor							154.0	141.0	145.0					4																	126241888		1909	4130	6039	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241888C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4322C>T	4.37:g.126241888C>T	ENSP00000377862:p.Ser1441Leu						p.S1441L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	4322	+			1441			Cadherin 14.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4322C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354822	0.61293	.	.	ENSG00000196159	ENST00000394329	T	0.01787	4.64	4.87	4.87	0.63330	Cadherin (3);Cadherin-like (1);	0.000000	0.31589	U	0.007393	T	0.01940	0.0061	L	0.29908	0.895	0.80722	D	1	P	0.40000	0.698	B	0.36766	0.232	T	0.69165	-0.5217	10	0.12103	T	0.63	.	18.1883	0.89799	0.0:1.0:0.0:0.0	.	1441	Q6V0I7	FAT4_HUMAN	L	1441	ENSP00000377862:S1441L	ENSP00000377862:S1441L	S	+	2	0	FAT4	126461338	1.000000	0.71417	0.659000	0.29680	0.909000	0.53808	5.762000	0.68809	2.535000	0.85469	0.655000	0.94253	TCA		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		38	149	0	0	0	0.009718	0	38	149		
FAT4	79633	broad.mit.edu	37	4	126371358	126371358	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:126371358G>C	ENST00000394329.3	+	9	9200	c.9187G>C	c.(9187-9189)Gat>Cat	p.D3063H	FAT4_ENST00000335110.5_Missense_Mutation_p.D1361H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3063	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D3063H(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACTGCAAAGGATAAGGGAAA	0.418																																						uc003ifj.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(9187-9189)GAT>CAT		FAT tumor suppressor homolog 4 precursor							89.0	87.0	88.0					4																	126371358		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371358G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9187G>C	4.37:g.126371358G>C	ENSP00000377862:p.Asp3063His					FAT4_uc011cgp.1_Missense_Mutation_p.D1361H|FAT4_uc003ifi.1_Missense_Mutation_p.D541H	p.D3063H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	9187	+			3063			Extracellular (Potential).|Cadherin 29.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.9187G>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283521	0.59867	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.80824	-1.42;-0.36	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.35349	U	0.003261	D	0.94387	0.8195	H	0.98612	4.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96227	0.9165	10	0.87932	D	0	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	1361;3063;3063	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	3063;1361	ENSP00000377862:D3063H;ENSP00000335169:D1361H	ENSP00000335169:D1361H	D	+	1	0	FAT4	126590808	1.000000	0.71417	0.966000	0.40874	0.436000	0.31835	9.666000	0.98612	2.652000	0.90054	0.655000	0.94253	GAT		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		25	65	0	0	0	0.004656	0	25	65		
FAT4	79633	broad.mit.edu	37	4	126371891	126371891	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:126371891C>G	ENST00000394329.3	+	9	9733	c.9720C>G	c.(9718-9720)ctC>ctG	p.L3240L	FAT4_ENST00000335110.5_Silent_p.L1538L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3240	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L3240L(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGTGACCTCTTTGTCATTG	0.443																																						uc003ifj.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(9718-9720)CTC>CTG		FAT tumor suppressor homolog 4 precursor							76.0	72.0	73.0					4																	126371891		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371891C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9720C>G	4.37:g.126371891C>G						FAT4_uc011cgp.1_Silent_p.L1538L|FAT4_uc003ifi.1_Silent_p.L718L	p.L3240L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	9720	+			3240			Cadherin 31.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.9720C>G	CCDS3732.3																																																																																				0.443	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		23	117	0	0	0	0.012319	0	23	117		
C4orf29	80167	broad.mit.edu	37	4	128938605	128938605	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:128938605G>A	ENST00000444616.1	+	8	805	c.558G>A	c.(556-558)gaG>gaA	p.E186E	C4orf29_ENST00000388795.5_Silent_p.E104E|C4orf29_ENST00000398965.1_Silent_p.E186E			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	186						extracellular region (GO:0005576)		p.E186E(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						ACTGGCTAGAGAGGGAAGGTT	0.418																																						uc003ifr.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(556-558)GAG>GAA		hypothetical protein LOC80167 precursor							62.0	56.0	57.0					4																	128938605		1822	4085	5907	SO:0001819	synonymous_variant	80167					extracellular region		g.chr4:128938605G>A	AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.558G>A	4.37:g.128938605G>A						C4orf29_uc003ifs.2_Silent_p.E80E|C4orf29_uc003ift.2_Silent_p.E17E|C4orf29_uc003ifu.2_Silent_p.E17E|C4orf29_uc010inz.2_Intron|C4orf29_uc003ifv.2_Silent_p.E17E	p.E186E	NM_001039717	NP_001034806	Q0P651	CD029_HUMAN			9	876	+			186					A1A4W8|A1A4W9|Q9H7A7	Silent	SNP	ENST00000444616.1	37	c.558G>A																																																																																					0.418	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1		NM_001039717		8	16	0	0	0	0.00308	0	8	16		
ZNF330	27309	broad.mit.edu	37	4	142152618	142152618	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:142152618G>C	ENST00000262990.4	+	8	777	c.549G>C	c.(547-549)caG>caC	p.Q183H	ZNF330_ENST00000421169.2_Missense_Mutation_p.Q123H	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	183						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.Q183H(1)		kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GGCTTGGTCAGCACTCATGTC	0.353																																						uc003iiq.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(547-549)CAG>CAC		zinc finger protein 330							125.0	133.0	131.0					4																	142152618		2203	4300	6503	SO:0001583	missense	27309					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	g.chr4:142152618G>C	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.549G>C	4.37:g.142152618G>C	ENSP00000262990:p.Gln183His					ZNF330_uc011chl.1_Missense_Mutation_p.Q123H	p.Q183H	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN			8	769	+	all_hematologic(180;0.162)		183			C4-type 4 (Potential).		B2RDA3	Missense_Mutation	SNP	ENST00000262990.4	37	c.549G>C	CCDS3754.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582778	0.65992	.	.	ENSG00000109445	ENST00000262990;ENST00000512809;ENST00000421169	T;T;T	0.33654	1.4;1.4;1.4	5.87	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	M	0.68593	2.085	0.80722	D	1	D;D	0.67145	0.99;0.996	D;D	0.79108	0.979;0.992	T	0.62134	-0.6918	10	0.66056	D	0.02	-11.7442	14.6017	0.68445	0.0699:0.0:0.9301:0.0	.	123;183	E9PDK6;Q9Y3S2	.;ZN330_HUMAN	H	183;183;123	ENSP00000262990:Q183H;ENSP00000422599:Q183H;ENSP00000397397:Q123H	ENSP00000262990:Q183H	Q	+	3	2	ZNF330	142372068	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.966000	0.56795	1.628000	0.50416	-0.150000	0.13652	CAG		0.353	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2		NM_014487		43	119	0	0	0	0.011902	0	43	119		
USP38	84640	broad.mit.edu	37	4	144107121	144107121	+	Missense_Mutation	SNP	G	G	A	rs199547940		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:144107121G>A	ENST00000307017.4	+	1	1024	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	USP38_ENST00000510377.1_Missense_Mutation_p.R173Q|RP11-284M14.1_ENST00000507486.1_RNA|RP11-284M14.1_ENST00000507826.1_RNA	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	173					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.R173Q(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CAGCTGGTTCGAACGATAGGC	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21065	0.0		0.0	False		,,,				2504	0.0					uc003ijb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(517-519)CGA>CAA		ubiquitin specific peptidase 38							100.0	97.0	98.0					4																	144107121		2203	4300	6503	SO:0001583	missense	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144107121G>A	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.518G>A	4.37:g.144107121G>A	ENSP00000303434:p.Arg173Gln					USP38_uc003ija.3_Missense_Mutation_p.R173Q|USP38_uc003ijc.2_RNA	p.R173Q	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN			1	1052	+	all_hematologic(180;0.158)		173					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	c.518G>A	CCDS3758.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.5	4.420124	0.83559	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.65916	-0.13;-0.18	5.12	4.28	0.50868	.	0.000000	0.64402	D	0.000001	T	0.68970	0.3059	L	0.34521	1.04	0.58432	D	0.999997	D;D	0.89917	0.977;1.0	P;D	0.91635	0.487;0.999	T	0.69247	-0.5195	10	0.42905	T	0.14	-11.5373	13.9186	0.63916	0.073:0.0:0.9269:0.0	.	173;173	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	Q	173	ENSP00000427647:R173Q;ENSP00000303434:R173Q	ENSP00000303434:R173Q	R	+	2	0	USP38	144326571	1.000000	0.71417	0.949000	0.38748	0.987000	0.75469	9.657000	0.98554	1.401000	0.46761	0.561000	0.74099	CGA		0.537	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1		NM_032557		37	135	0	0	0	0.005524	0	37	135		
PRSS48	345062	broad.mit.edu	37	4	152204409	152204409	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:152204409G>T	ENST00000455694.2	+	4	624	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	PRSS48_ENST00000441586.2_Missense_Mutation_p.D65Y|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	208	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.D217Y(1)|p.D208Y(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TTGTGCTGGTGATACTCAAAA	0.418																																						uc011cif.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(1)	1						c.(622-624)GAT>TAT		epidermis-specific serine protease-like protein							141.0	133.0	136.0					4																	152204409		1873	4103	5976	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152204409G>T	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.622G>T	4.37:g.152204409G>T	ENSP00000401328:p.Asp208Tyr					PRSS48_uc011cig.1_Missense_Mutation_p.D65Y	p.D208Y	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN			4	622	+			208			Peptidase S1.		Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.622G>T	CCDS47145.1	.	.	.	.	.	.	.	.	.	.	G	6.588	0.476779	0.12521	.	.	ENSG00000189099	ENST00000455694;ENST00000441586	T;T	0.28255	1.62;1.62	4.11	3.15	0.36227	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.436371	0.17015	N	0.190359	T	0.23133	0.0559	N	0.02266	-0.62	0.23969	N	0.996313	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.969	T	0.11842	-1.0571	10	0.19147	T	0.46	.	7.6415	0.28296	0.1279:0.0:0.8721:0.0	.	65;208	Q7RTY5-3;Q7RTY5	.;PRS48_HUMAN	Y	208;65	ENSP00000401328:D208Y;ENSP00000401420:D65Y	ENSP00000401420:D65Y	D	+	1	0	PRSS48	152423859	0.032000	0.19561	0.925000	0.36789	0.720000	0.41350	1.010000	0.29898	1.159000	0.42565	0.313000	0.20887	GAT		0.418	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3		NM_183375		22	81	1	0	1.28384e-07	0.012319	1.30923e-07	22	81		
FBXW7	55294	broad.mit.edu	37	4	153249501	153249501	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:153249501G>A	ENST00000281708.4	-	9	2506	c.1277C>T	c.(1276-1278)tCa>tTa	p.S426L	FBXW7_ENST00000393956.3_Missense_Mutation_p.S250L|FBXW7_ENST00000603841.1_Missense_Mutation_p.S426L|FBXW7_ENST00000296555.5_Missense_Mutation_p.S308L|FBXW7_ENST00000263981.5_Missense_Mutation_p.S346L|FBXW7_ENST00000603548.1_Missense_Mutation_p.S426L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	426					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.S426L(2)|p.S308L(1)|p.S187L(1)|p.S346L(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CATTTGTGATGACCATACTCC	0.378			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NaN		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		6	Substitution - Missense(5)|Unknown(1)		urinary_tract(5)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1276-1278)TCA>TTA		F-box and WD repeat domain containing 7 isoform							305.0	263.0	277.0					4																	153249501		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153249501G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1277C>T	4.37:g.153249501G>A	ENSP00000281708:p.Ser426Leu					FBXW7_uc011cii.1_Missense_Mutation_p.S426L|FBXW7_uc003imt.2_Missense_Mutation_p.S426L|FBXW7_uc011cih.1_Missense_Mutation_p.S250L|FBXW7_uc003imq.2_Missense_Mutation_p.S346L|FBXW7_uc003imr.2_Missense_Mutation_p.S308L	p.S426L	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			9	1426	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	426			WD 2.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1277C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381660	0.95967	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.9	5.9	0.94986	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.060042	0.64402	D	0.000001	T	0.80330	0.4603	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.67145	0.986;0.996;0.983;0.991	P;D;P;P	0.63381	0.858;0.914;0.778;0.778	T	0.81306	-0.0992	10	0.66056	D	0.02	-13.0583	20.2787	0.98501	0.0:0.0:1.0:0.0	.	250;426;308;346	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	L	426;308;346;250	ENSP00000281708:S426L;ENSP00000296555:S308L;ENSP00000263981:S346L;ENSP00000377528:S250L	ENSP00000263981:S346L	S	-	2	0	FBXW7	153468951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.798000	0.96311	0.650000	0.86243	TCA		0.378	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1				67	229	0	0	0	0.01441	0	67	229		
RAPGEF2	9693	broad.mit.edu	37	4	160260433	160260433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:160260433G>T	ENST00000264431.4	+	13	2397	c.1978G>T	c.(1978-1980)Gag>Tag	p.E660*		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	660	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.E648*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGTCACACCTGAGGGAGTAAT	0.433																																						uc003iqg.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1978-1980)GAG>TAG		Rap guanine nucleotide exchange factor 2							156.0	144.0	148.0					4																	160260433		1887	4109	5996	SO:0001587	stop_gained	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160260433G>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1978G>T	4.37:g.160260433G>T	ENSP00000264431:p.Glu660*						p.E660*	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	13	2288	+	all_hematologic(180;0.24)		660			Ras-associating.		D3DP27	Nonsense_Mutation	SNP	ENST00000264431.4	37	c.1978G>T	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	43	10.433504	0.99404	.	.	ENSG00000109756	ENST00000264431	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.7146	0.91671	0.0:0.0:1.0:0.0	.	.	.	.	X	660	.	ENSP00000264431:E660X	E	+	1	0	RAPGEF2	160479883	1.000000	0.71417	0.952000	0.39060	0.988000	0.76386	9.726000	0.98782	2.494000	0.84150	0.591000	0.81541	GAG		0.433	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2		NM_014247		50	202	1	0	4.86159e-25	0.01441	5.0578e-25	50	202		
KLHL2	11275	broad.mit.edu	37	4	166220763	166220763	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:166220763G>T	ENST00000226725.6	+	8	1135	c.876G>T	c.(874-876)atG>atT	p.M292I	KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.M296I|KLHL2_ENST00000421009.2_Missense_Mutation_p.M195I|KLHL2_ENST00000506761.1_Missense_Mutation_p.M126I|KLHL2_ENST00000538127.1_Missense_Mutation_p.M204I	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	292					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.M292I(1)		endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GTATATTAATGAAGAGTGTCC	0.433																																						uc003irb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(874-876)ATG>ATT		kelch-like 2, Mayven isoform 1							89.0	89.0	89.0					4																	166220763		2203	4300	6503	SO:0001583	missense	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166220763G>T	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.876G>T	4.37:g.166220763G>T	ENSP00000226725:p.Met292Ile					KLHL2_uc011cjm.1_Missense_Mutation_p.M296I|KLHL2_uc003irc.2_Missense_Mutation_p.M204I|KLHL2_uc010ira.2_5'UTR	p.M292I	NM_007246	NP_009177	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	8	1135	+	all_hematologic(180;0.221)		292					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	c.876G>T	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910352	0.33721	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.72835	-0.64;-0.64;-0.69;-0.46;-0.47	6.07	6.07	0.98685	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	L	0.28400	0.85	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.50092	-0.8868	10	0.18710	T	0.47	.	10.8872	0.46974	0.1387:0.0:0.8613:0.0	.	296;292	B4DFH7;O95198	.;KLHL2_HUMAN	I	292;296;204;195;126	ENSP00000226725:M292I;ENSP00000424198:M296I;ENSP00000437526:M204I;ENSP00000408974:M195I;ENSP00000424108:M126I	ENSP00000226725:M292I	M	+	3	0	KLHL2	166440213	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	4.852000	0.62904	2.890000	0.99128	0.650000	0.86243	ATG		0.433	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1				27	69	1	0	7.07758e-08	0.004656	7.22552e-08	27	69		
DDX60	55601	broad.mit.edu	37	4	169215078	169215078	+	Missense_Mutation	SNP	G	G	C	rs138195535	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:169215078G>C	ENST00000393743.3	-	7	1033	c.742C>G	c.(742-744)Ctg>Gtg	p.L248V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	248					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.L248V(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGTGTAAGCAGAGATACAGTC	0.358																																						uc003irp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(742-744)CTG>GTG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							97.0	93.0	95.0					4																	169215078		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169215078G>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.742C>G	4.37:g.169215078G>C	ENSP00000377344:p.Leu248Val						p.L248V	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	7	1034	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	248					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.742C>G	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	7.504	0.653193	0.14580	.	.	ENSG00000137628	ENST00000393743	T	0.19669	2.13	4.12	0.282	0.15692	.	0.545374	0.15500	N	0.259088	T	0.23133	0.0559	M	0.68952	2.095	0.09310	N	1	P	0.45396	0.857	P	0.48704	0.587	T	0.16217	-1.0410	10	0.15066	T	0.55	.	4.3167	0.10997	0.2718:0.0:0.5715:0.1566	.	248	Q8IY21	DDX60_HUMAN	V	248	ENSP00000377344:L248V	ENSP00000377344:L248V	L	-	1	2	DDX60	169451653	0.720000	0.27996	0.653000	0.29593	0.100000	0.18952	1.114000	0.31196	-0.082000	0.12640	-0.253000	0.11424	CTG		0.358	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1		NM_017631		23	92	0	0	0	0.00278	0	23	92		
WDR17	116966	broad.mit.edu	37	4	177052884	177052884	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:177052884G>C	ENST00000280190.4	+	8	1321	c.1165G>C	c.(1165-1167)Gac>Cac	p.D389H	WDR17_ENST00000393643.2_Missense_Mutation_p.D365H|WDR17_ENST00000507824.2_Missense_Mutation_p.D372H|WDR17_ENST00000508596.1_Missense_Mutation_p.D365H			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	389								p.D389H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTTTCTTAGAGACTTGGTATG	0.338																																						uc003iuj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(1165-1167)GAC>CAC		WD repeat domain 17 isoform 1							225.0	220.0	222.0					4																	177052884		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177052884G>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1165G>C	4.37:g.177052884G>C	ENSP00000280190:p.Asp389His					WDR17_uc003iuk.2_Missense_Mutation_p.D365H|WDR17_uc003ium.3_Missense_Mutation_p.D365H|WDR17_uc003iul.1_Intron	p.D389H	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	8	1321	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	389					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.1165G>C	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.70|17.70	3.453974|3.453974	0.63290|0.63290	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000505894	T;T;T|.	0.59502|.	0.3;0.32;0.26|.	5.45|5.45	3.74|3.74	0.42951|0.42951	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);|.	0.156823|.	0.53938|.	D|.	0.000046|.	T|T	0.35128|0.35128	0.0921|0.0921	N|N	0.08118|0.08118	0|0	0.51482|0.51482	D|D	0.999924|0.999924	D;D|.	0.76494|.	0.997;0.999|.	D;D|.	0.69142|.	0.962;0.962|.	T|T	0.09122|0.09122	-1.0689|-1.0689	10|5	0.44086|.	T|.	0.13|.	-9.5111|-9.5111	12.2583|12.2583	0.54636|0.54636	0.1382:0.0:0.8618:0.0|0.1382:0.0:0.8618:0.0	.|.	365;389|.	E7EQX0;Q8IZU2|.	.;WDR17_HUMAN|.	H|D	365;365;389;372|137	ENSP00000422763:D365H;ENSP00000377258:D365H;ENSP00000280190:D389H|.	ENSP00000280190:D389H|.	D|E	+|+	1|3	0|2	WDR17|WDR17	177289878|177289878	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.773000|0.773000	0.43773|0.43773	9.141000|9.141000	0.94612|0.94612	0.797000|0.797000	0.33971|0.33971	0.655000|0.655000	0.94253|0.94253	GAC|GAG		0.338	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2				16	252	0	0	0	0.00499	0	16	252		
DCTD	1635	broad.mit.edu	37	4	183836719	183836719	+	Start_Codon_SNP	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:183836719C>G	ENST00000438320.2	-	2	293	c.3G>C	c.(1-3)atG>atC	p.M1I	DCTD_ENST00000357067.3_Missense_Mutation_p.M12I|DCTD_ENST00000510370.1_Start_Codon_SNP_p.M1I|DCTD_ENST00000513383.1_5'Flank	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	1					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)	p.M1I(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	AAACTTCACTCATGTTGGGTC	0.398																																						uc003ivf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1-3)ATG>ATC		dCMP deaminase isoform b							105.0	115.0	112.0					4																	183836719		2203	4300	6503	SO:0001582	initiator_codon_variant	1635				nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding	g.chr4:183836719C>G	L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.3G>C	4.37:g.183836719C>G	ENSP00000398194:p.Met1Ile					DCTD_uc003ivg.2_Missense_Mutation_p.M12I|DCTD_uc010irw.2_5'UTR|DCTD_uc003ivh.2_5'UTR	p.M1I	NM_001921	NP_001912	P32321	DCTD_HUMAN		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	2	177	-		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)	1					B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Missense_Mutation	SNP	ENST00000438320.2	37	c.3G>C	CCDS3831.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910347	0.33721	.	.	ENSG00000129187	ENST00000357067;ENST00000438320;ENST00000510370;ENST00000503182;ENST00000510307;ENST00000512766;ENST00000514754;ENST00000503820;ENST00000503988;ENST00000508994	.	.	.	4.7	3.79	0.43588	.	0.701760	0.14937	N	0.289742	T	0.44623	0.1302	.	.	.	0.80722	D	1	B;B	0.20550	0.001;0.046	B;B	0.17433	0.006;0.018	T	0.30563	-0.9974	8	0.29301	T	0.29	-13.9354	12.79	0.57528	0.0:0.8336:0.1664:0.0	.	12;1	P32321-2;P32321	.;DCTD_HUMAN	I	12;1;1;1;1;1;1;1;1;1	.	ENSP00000349576:M12I	M	-	3	0	DCTD	184073713	0.996000	0.38824	1.000000	0.80357	0.937000	0.57800	1.841000	0.39240	2.590000	0.87494	0.655000	0.94253	ATG		0.398	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361743.2			Missense_Mutation	29	111	0	0	0	0.009535	0	29	111		
WWC2	80014	broad.mit.edu	37	4	184233512	184233512	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:184233512G>C	ENST00000403733.3	+	22	3602	c.3403G>C	c.(3403-3405)Gag>Cag	p.E1135Q	WWC2_ENST00000504005.1_Missense_Mutation_p.E817Q|WWC2_ENST00000513834.1_Missense_Mutation_p.E1086Q|WWC2_ENST00000448232.2_Missense_Mutation_p.E1159Q|WWC2_ENST00000508747.1_Missense_Mutation_p.E263Q	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1135					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.E1135Q(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTCCAAAGAAGAGCAGAAGCA	0.478																																						uc010irx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)	3						c.(3403-3405)GAG>CAG		WW and C2 domain containing 2							118.0	123.0	121.0					4																	184233512		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184233512G>C	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.3403G>C	4.37:g.184233512G>C	ENSP00000384222:p.Glu1135Gln					WWC2_uc003ivk.3_Missense_Mutation_p.E930Q|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.E817Q|WWC2_uc003ivn.3_Missense_Mutation_p.E650Q|WWC2_uc010irz.2_Missense_Mutation_p.E476Q|WWC2_uc003ivo.3_Missense_Mutation_p.E263Q	p.E1135Q	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	22	3585	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	1135			Potential.		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.3403G>C	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306000	0.60305	.	.	ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005;ENST00000508747	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	4.84	4.84	0.62591	.	0.081291	0.51477	D	0.000089	T	0.55924	0.1951	L	0.59436	1.845	0.80722	D	1	P;P;D;P	0.57571	0.493;0.871;0.98;0.675	B;P;P;B	0.49922	0.369;0.501;0.626;0.329	T	0.60632	-0.7225	10	0.56958	D	0.05	-13.1124	18.1968	0.89825	0.0:0.0:1.0:0.0	.	1159;1135;263;1086	Q6AWC2-6;Q6AWC2;Q6AWC2-7;Q6AWC2-4	.;WWC2_HUMAN;.;.	Q	1135;1086;1159;817;263	ENSP00000384222:E1135Q;ENSP00000425054:E1086Q;ENSP00000398577:E1159Q;ENSP00000427569:E817Q;ENSP00000420835:E263Q	ENSP00000384222:E1135Q	E	+	1	0	WWC2	184470506	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.508000	0.90525	2.517000	0.84864	0.650000	0.86243	GAG		0.478	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1		NM_024949		33	132	0	0	0	0.003755	0	33	132		
SNX25	83891	broad.mit.edu	37	4	186188198	186188198	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:186188198G>A	ENST00000504273.1	+	5	782	c.488G>A	c.(487-489)aGa>aAa	p.R163K	SNX25_ENST00000264694.8_Missense_Mutation_p.R163K			Q9H3E2	SNX25_HUMAN	sorting nexin 25	163	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.R163K(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CTGGCGTACAGAGAGCAAATG	0.458																																						uc003ixh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(487-489)AGA>AAA		sorting nexin 25							127.0	115.0	119.0					4																	186188198		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186188198G>A	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.488G>A	4.37:g.186188198G>A	ENSP00000426255:p.Arg163Lys						p.R163K	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	5	677	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	163			PXA.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.488G>A	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162858	0.57368	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.11495	2.77;2.77	4.9	4.9	0.64082	Phox-associated domain (1);	0.000000	0.85682	D	0.000000	T	0.14313	0.0346	L	0.53249	1.67	0.58432	D	0.999997	B	0.12630	0.006	B	0.17098	0.017	T	0.04737	-1.0930	10	0.30078	T	0.28	-17.6006	18.2534	0.90011	0.0:0.0:1.0:0.0	.	163	Q9H3E2	SNX25_HUMAN	K	163	ENSP00000426255:R163K;ENSP00000264694:R163K	ENSP00000264694:R163K	R	+	2	0	SNX25	186425192	1.000000	0.71417	0.995000	0.50966	0.921000	0.55340	9.248000	0.95456	2.541000	0.85698	0.655000	0.94253	AGA		0.458	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1		NM_031953		53	146	0	0	0	0.01441	0	53	146		
CEP72	55722	broad.mit.edu	37	5	637659	637659	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:637659C>G	ENST00000264935.5	+	7	1022	c.932C>G	c.(931-933)tCt>tGt	p.S311C	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	311					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.S311C(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GACTCGGCCTCTTCTCAGAAG	0.532																																						uc003jbf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(931-933)TCT>TGT		centrosomal protein 72 kDa							63.0	66.0	65.0					5																	637659		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:637659C>G	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.932C>G	5.37:g.637659C>G	ENSP00000264935:p.Ser311Cys					CEP72_uc011clz.1_RNA	p.S311C	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		7	1004	+			311					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.932C>G	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958918	0.34565	.	.	ENSG00000112877	ENST00000264935	T	0.09817	2.94	4.61	3.7	0.42460	.	1.962480	0.02024	N	0.048056	T	0.21267	0.0512	L	0.54323	1.7	0.38107	D	0.937444	D	0.58620	0.983	P	0.50231	0.635	T	0.03993	-1.0986	10	0.45353	T	0.12	-0.0217	8.5804	0.33626	0.0:0.8826:0.0:0.1174	.	311	Q9P209	CEP72_HUMAN	C	311	ENSP00000264935:S311C	ENSP00000264935:S311C	S	+	2	0	CEP72	690659	0.102000	0.21896	0.162000	0.22713	0.579000	0.36224	0.345000	0.19979	1.183000	0.42943	0.561000	0.74099	TCT		0.532	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3		NM_018140		16	66	0	0	0	0.006122	0	16	66		
SLC12A7	10723	broad.mit.edu	37	5	1064231	1064231	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:1064231G>C	ENST00000264930.5	-	19	2617	c.2574C>G	c.(2572-2574)ctC>ctG	p.L858L	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	858					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.L858L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCAGCAGCATGAGCATGCCGC	0.697																																						uc003jbu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(2572-2574)CTC>CTG		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						44.0	38.0	40.0					5																	1064231		2200	4296	6496	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1064231G>C	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2574C>G	5.37:g.1064231G>C							p.L858L	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		19	2640	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		858			Helical; (Potential).		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.2574C>G	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	G	7.535	0.659456	0.14645	.	.	ENSG00000113504	ENST00000513223	.	.	.	4.26	1.96	0.26148	.	.	.	.	.	T	0.56077	0.1961	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50154	-0.8861	4	.	.	.	.	8.3902	0.32524	0.0:0.3755:0.4766:0.148	.	.	.	.	D	216	.	.	H	-	1	0	SLC12A7	1117231	0.916000	0.31088	1.000000	0.80357	0.717000	0.41224	-0.228000	0.09114	0.735000	0.32537	0.313000	0.20887	CAT		0.697	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2		NM_006598		5	20	0	0	0	0.000602	0	5	20		
SLC6A19	340024	broad.mit.edu	37	5	1221314	1221314	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:1221314C>T	ENST00000304460.10	+	11	1643	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	529					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.F529F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCAACATCTTCTGGCAAGTCA	0.547																																						uc003jbw.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1585-1587)TTC>TTT		solute carrier family 6, member 19							171.0	123.0	139.0					5																	1221314		2203	4300	6503	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1221314C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1587C>T	5.37:g.1221314C>T							p.F529F	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	1643	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		529			Cytoplasmic (Potential).		A8K446	Silent	SNP	ENST00000304460.10	37	c.1587C>T	CCDS34130.1																																																																																				0.547	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1		XM_291120		10	32	0	0	0	0.008291	0	10	32		
ADCY2	108	broad.mit.edu	37	5	7816985	7816985	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:7816985G>A	ENST00000338316.4	+	23	2979	c.2890G>A	c.(2890-2892)Gag>Aag	p.E964K	ADCY2_ENST00000537121.1_Missense_Mutation_p.E784K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	964					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.E964K(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCAGGAGCCCGAGCGGCAGTA	0.502											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jdz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(2890-2892)GAG>AAG		adenylate cyclase 2							152.0	127.0	135.0					5																	7816985		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7816985G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2890G>A	5.37:g.7816985G>A	ENSP00000342952:p.Glu964Lys		OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	ADCY2_uc011cmo.1_Missense_Mutation_p.E784K|ADCY2_uc010itm.1_Missense_Mutation_p.E160K	p.E964K	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			23	2957	+			964			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2890G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912328	0.92178	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.80909	-1.43;-1.43	5.42	5.42	0.78866	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.234993	0.43260	D	0.000599	T	0.78304	0.4262	L	0.35723	1.085	0.80722	D	1	P;B	0.49307	0.922;0.222	P;B	0.45276	0.475;0.122	T	0.80348	-0.1420	10	0.54805	T	0.06	.	19.2167	0.93781	0.0:0.0:1.0:0.0	.	784;964	B7Z2C1;Q08462	.;ADCY2_HUMAN	K	964;117;797;784	ENSP00000342952:E964K;ENSP00000444803:E784K	ENSP00000342952:E964K	E	+	1	0	ADCY2	7869985	1.000000	0.71417	0.970000	0.41538	0.975000	0.68041	9.502000	0.97981	2.546000	0.85860	0.561000	0.74099	GAG		0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546		20	89	0	0	0	0.014323	0	20	89		
MARCH6	10299	broad.mit.edu	37	5	10403539	10403539	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:10403539G>C	ENST00000274140.5	+	15	1350	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L	MARCH6_ENST00000503788.1_Silent_p.L301L|MARCH6_ENST00000510792.1_Silent_p.L104L|MARCH6_ENST00000449913.2_Silent_p.L358L	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	406					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L406L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ATGCTACTCTGAAAGATCGAG	0.418																																						uc003jet.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(1216-1218)CTG>CTC		membrane-associated ring finger (C3HC4) 6							141.0	128.0	132.0					5																	10403539		2203	4300	6503	SO:0001819	synonymous_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10403539G>C	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1218G>C	5.37:g.10403539G>C						MARCH6_uc011cmu.1_Silent_p.L358L|MARCH6_uc003jeu.1_Silent_p.L104L|MARCH6_uc011cmv.1_Silent_p.L301L	p.L406L	NM_005885	NP_005876	O60337	MARH6_HUMAN			15	1401	+			406			Extracellular (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	c.1218G>C	CCDS34135.1																																																																																				0.418	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2		NM_005885		28	79	0	0	0	0.007291	0	28	79		
MARCH11	441061	broad.mit.edu	37	5	16177875	16177875	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:16177875C>T	ENST00000332432.8	-	2	852	c.653G>A	c.(652-654)aGa>aAa	p.R218K	RP11-19O2.2_ENST00000509037.1_RNA|MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	218					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R218K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AACATGGTATCTATAACAGCA	0.398																																						uc003jfo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(652-654)AGA>AAA		membrane-associated ring finger (C3HC4) 11							99.0	97.0	98.0					5																	16177875		1895	4118	6013	SO:0001583	missense	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16177875C>T	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.653G>A	5.37:g.16177875C>T	ENSP00000333181:p.Arg218Lys					uc003jfp.2_5'Flank	p.R218K	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN			2	866	-			218			RING-CH-type.		A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	c.653G>A	CCDS47192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.118|9.118	1.008241|1.008241	0.19199|0.19199	.|.	.|.	ENSG00000183654|ENSG00000183654	ENST00000507111|ENST00000332432	.|T	.|0.52295	.|0.67	5.68|5.68	5.68|5.68	0.88126|0.88126	.|Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (1);	.|0.000000	.|0.53938	.|U	.|0.000060	T|T	0.29190|0.29190	0.0726|0.0726	N|N	0.11560|0.11560	0.145|0.145	0.48511|0.48511	D|D	0.999663|0.999663	.|B	.|0.19935	.|0.04	.|B	.|0.18871	.|0.023	T|T	0.22068|0.22068	-1.0227|-1.0227	5|10	.|0.02654	.|T	.|1	-8.9298|-8.9298	19.7964|19.7964	0.96487|0.96487	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|218	.|A6NNE9	.|MARHB_HUMAN	N|K	22|218	.|ENSP00000333181:R218K	.|ENSP00000333181:R218K	D|R	-|-	1|2	0|0	MARCH11|MARCH11	16230875|16230875	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.521000|2.521000	0.45563|0.45563	2.702000|2.702000	0.92279|0.92279	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.398	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2		NM_001102562		13	51	0	0	0	0.001855	0	13	51		
PTGER4	5734	broad.mit.edu	37	5	40692015	40692015	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:40692015G>C	ENST00000302472.3	+	3	2026	c.1002G>C	c.(1000-1002)aaG>aaC	p.K334N		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	334					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)	p.K334N(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TCCTGAGAAAGACAGTGCTCA	0.507																																						uc003jlz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)	2						c.(1000-1002)AAG>AAC		prostaglandin E receptor 4, subtype EP4							89.0	94.0	92.0					5																	40692015		2203	4300	6503	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40692015G>C	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.1002G>C	5.37:g.40692015G>C	ENSP00000302846:p.Lys334Asn						p.K334N	NM_000958	NP_000949	P35408	PE2R4_HUMAN			3	1594	+			334			Cytoplasmic (Potential).		Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.1002G>C	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949113	0.73787	.	.	ENSG00000171522	ENST00000302472	T	0.45668	0.89	5.55	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.59729	0.2215	M	0.68952	2.095	0.58432	D	0.999997	D	0.76494	0.999	D	0.73708	0.981	T	0.60125	-0.7324	10	0.56958	D	0.05	-22.1402	11.7986	0.52114	0.1415:0.0:0.8585:0.0	.	334	P35408	PE2R4_HUMAN	N	334	ENSP00000302846:K334N	ENSP00000302846:K334N	K	+	3	2	PTGER4	40727772	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.188000	0.50958	0.712000	0.32039	0.467000	0.42956	AAG		0.507	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2		NM_000958		54	145	0	0	0	0.01441	0	54	145		
GPBP1	65056	broad.mit.edu	37	5	56545357	56545357	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:56545357G>C	ENST00000506184.2	+	9	2031	c.926G>C	c.(925-927)aGa>aCa	p.R309T	GPBP1_ENST00000514387.2_Missense_Mutation_p.R138T|GPBP1_ENST00000538707.1_Missense_Mutation_p.R316T|GPBP1_ENST00000454432.2_Missense_Mutation_p.R329T|GPBP1_ENST00000511209.1_Missense_Mutation_p.R301T|GPBP1_ENST00000264779.6_Missense_Mutation_p.R316T|GPBP1_ENST00000424459.3_Missense_Mutation_p.R329T			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	309					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R309T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AAAAGAGACAGAGTAGAAGAG	0.373																																						uc003jrh.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|central_nervous_system(1)	2						c.(925-927)AGA>ACA		GC-rich promoter binding protein 1 isoform 1							101.0	100.0	101.0					5																	56545357		2202	4299	6501	SO:0001583	missense	65056				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:56545357G>C		CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.926G>C	5.37:g.56545357G>C	ENSP00000421202:p.Arg309Thr					GPBP1_uc010iwg.2_Missense_Mutation_p.R329T|GPBP1_uc003jri.3_Missense_Mutation_p.R138T|GPBP1_uc003jrj.3_Missense_Mutation_p.R301T|GPBP1_uc003jrk.3_Missense_Mutation_p.R316T|GPBP1_uc003jrl.3_RNA	p.R309T	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)	9	2200	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)	309					A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	c.926G>C	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293708	0.80914	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.50548	1.75;0.74;1.76;1.75;1.75;1.74;1.76	6.16	6.16	0.99307	.	0.048943	0.85682	D	0.000000	T	0.68869	0.3048	M	0.65498	2.005	0.46241	D	0.998949	P;B;D;B	0.61080	0.817;0.378;0.989;0.255	B;B;D;B	0.75020	0.276;0.157;0.985;0.157	T	0.67887	-0.5554	10	0.66056	D	0.02	-16.7138	19.0403	0.92995	0.0:0.0:1.0:0.0	.	329;316;301;309	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	T	329;138;309;329;301;316;316	ENSP00000401596:R329T;ENSP00000421709:R138T;ENSP00000421202:R309T;ENSP00000403522:R329T;ENSP00000422337:R301T;ENSP00000264779:R316T;ENSP00000440090:R316T	ENSP00000264779:R316T	R	+	2	0	GPBP1	56581114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.011000	0.64011	2.937000	0.99478	0.650000	0.86243	AGA		0.373	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1		NM_022913		17	48	0	0	0	0.00499	0	17	48		
SLC30A5	64924	broad.mit.edu	37	5	68412387	68412387	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:68412387G>A	ENST00000396591.3	+	10	1849	c.1239G>A	c.(1237-1239)gaG>gaA	p.E413E	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	413					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.E413E(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCTTGAGGAGAGTGACTCTA	0.328																																						uc003jvh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1237-1239)GAG>GAA		solute carrier family 30 (zinc transporter),							63.0	65.0	64.0					5																	68412387		2203	4300	6503	SO:0001819	synonymous_variant	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68412387G>A	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1239G>A	5.37:g.68412387G>A						SLC30A5_uc003jvj.2_RNA|SLC30A5_uc003jvk.2_Silent_p.E142E|SLC30A5_uc003jvi.2_Silent_p.E242E	p.E413E	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	10	1440	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	413			Cytoplasmic (Potential).		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	ENST00000396591.3	37	c.1239G>A	CCDS3996.1																																																																																				0.328	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2				10	68	0	0	0	0.008291	0	10	68		
CCDC125	202243	broad.mit.edu	37	5	68616292	68616292	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:68616292C>A	ENST00000396496.2	-	2	183	c.76G>T	c.(76-78)Ggt>Tgt	p.G26C	CCDC125_ENST00000383374.2_Missense_Mutation_p.G26C|CCDC125_ENST00000396499.1_Missense_Mutation_p.G26C|CCDC125_ENST00000511257.1_De_novo_Start_OutOfFrame|CCDC125_ENST00000460090.1_5'UTR			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	26						cytoplasm (GO:0005737)		p.G26C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CCTAAATCACCTTCTGTCATG	0.433																																						uc003jvv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(76-78)GGT>TGT		coiled-coil domain containing 125							133.0	128.0	130.0					5																	68616292		2203	4300	6503	SO:0001583	missense	202243					cytoplasm		g.chr5:68616292C>A	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.76G>T	5.37:g.68616292C>A	ENSP00000379754:p.Gly26Cys					CCDC125_uc003jvx.1_Missense_Mutation_p.G26C|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Translation_Start_Site|CCDC125_uc003jvz.1_Missense_Mutation_p.G26C	p.G26C	NM_176816	NP_789786	Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	1	119	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	26					Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	c.76G>T	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	c	19.26	3.793673	0.70452	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000383374	T;T;T	0.75367	-0.74;-0.74;-0.93	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000003	D	0.85106	0.5621	M	0.73598	2.24	0.40741	D	0.98283	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87256	0.2276	10	0.87932	D	0	.	13.9813	0.64306	0.0:1.0:0.0:0.0	.	26;26	F8W912;Q86Z20	.;CC125_HUMAN	C	26	ENSP00000379754:G26C;ENSP00000379756:G26C;ENSP00000372865:G26C	ENSP00000372865:G26C	G	-	1	0	CCDC125	68652048	1.000000	0.71417	0.991000	0.47740	0.882000	0.50991	4.385000	0.59613	2.451000	0.82905	0.457000	0.33378	GGT		0.433	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4		NM_176816		21	137	1	0	6.44725e-10	0.014323	6.60381e-10	21	137		
MAP1B	4131	broad.mit.edu	37	5	71491837	71491837	+	Silent	SNP	C	C	T	rs375972752		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:71491837C>T	ENST00000296755.7	+	5	2953	c.2655C>T	c.(2653-2655)acC>acT	p.T885T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	885					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.T885T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAGAAGTCACCAAAGGTCCTG	0.547																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(2653-2655)ACC>ACT		microtubule-associated protein 1B							111.0	113.0	113.0					5																	71491837		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491837C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2655C>T	5.37:g.71491837C>T						MAP1B_uc010iyw.1_Silent_p.T902T|MAP1B_uc010iyx.1_Silent_p.T759T|MAP1B_uc010iyy.1_Silent_p.T759T	p.T885T	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2896	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	885					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.2655C>T	CCDS4012.1																																																																																				0.547	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6		NM_005909		50	181	0	0	0	0.01441	0	50	181		
BHMT2	23743	broad.mit.edu	37	5	78373343	78373343	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:78373343G>C	ENST00000255192.3	+	2	140	c.74G>C	c.(73-75)gGa>gCa	p.G25A	BHMT2_ENST00000521567.1_Missense_Mutation_p.G25A|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	25	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)	p.G25A(1)		endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GTTGTGATTGGAGATGGCAGC	0.488																																						uc003kft.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(73-75)GGA>GCA		betaine-homocysteine methyltransferase 2	L-Methionine(DB00134)						143.0	145.0	144.0					5																	78373343		2203	4300	6503	SO:0001583	missense	23743				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78373343G>C		CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.74G>C	5.37:g.78373343G>C	ENSP00000255192:p.Gly25Ala					BHMT2_uc011cth.1_Missense_Mutation_p.G25A	p.G25A	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	2	97	+		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)	25			Hcy-binding.		B7Z516|Q9NXX7	Missense_Mutation	SNP	ENST00000255192.3	37	c.74G>C	CCDS4045.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056598	0.76074	.	.	ENSG00000132840	ENST00000255192;ENST00000521567	T;T	0.20463	2.07;2.07	4.83	4.83	0.62350	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	L	0.58925	1.835	0.39870	D	0.973494	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.24657	-1.0154	10	0.02654	T	1	-22.9692	17.9262	0.88983	0.0:0.0:1.0:0.0	.	25;25	B7Z516;Q9H2M3	.;BHMT2_HUMAN	A	25	ENSP00000255192:G25A;ENSP00000430278:G25A	ENSP00000255192:G25A	G	+	2	0	BHMT2	78409099	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.444000	0.97578	2.226000	0.72624	0.557000	0.71058	GGA		0.488	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2		NM_017614		38	159	0	0	0	0.004878	0	38	159		
CMYA5	202333	broad.mit.edu	37	5	79027767	79027767	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:79027767C>T	ENST00000446378.2	+	2	3210	c.3179C>T	c.(3178-3180)tCa>tTa	p.S1060L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1060					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.S1060L(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGTTCAGTTCATCACAGAAG	0.428																																						uc003kgc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(3178-3180)TCA>TTA		cardiomyopathy associated 5							45.0	42.0	43.0					5																	79027767		1898	4130	6028	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79027767C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3179C>T	5.37:g.79027767C>T	ENSP00000394770:p.Ser1060Leu						p.S1060L	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	3251	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1060					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.3179C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.817048	0.32145	.	.	ENSG00000164309	ENST00000446378	T	0.39997	1.05	5.28	3.37	0.38596	.	0.345430	0.21306	N	0.076731	T	0.36991	0.0987	M	0.65975	2.015	0.09310	N	1	P	0.34864	0.473	B	0.31390	0.129	T	0.29671	-1.0004	10	0.44086	T	0.13	.	8.3362	0.32217	0.0:0.7359:0.0:0.2641	.	1060	Q8N3K9	CMYA5_HUMAN	L	1060	ENSP00000394770:S1060L	ENSP00000394770:S1060L	S	+	2	0	CMYA5	79063523	0.001000	0.12720	0.142000	0.22268	0.955000	0.61496	0.101000	0.15251	1.364000	0.46038	0.655000	0.94253	TCA		0.428	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1		NM_153610		9	36	0	0	0	0.008291	0	9	36		
GPR98	84059	broad.mit.edu	37	5	90449160	90449160	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:90449160G>A	ENST00000405460.2	+	89	18843	c.18747G>A	c.(18745-18747)ctG>ctA	p.L6249L	GPR98_ENST00000425867.2_Silent_p.L1910L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6249					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.L6249L(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)		AGGGGTCACTGATAGCCGATG	0.478																																						uc003kju.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(18745-18747)CTG>CTA		G protein-coupled receptor 98 precursor							69.0	70.0	70.0					5																	90449160		1892	4106	5998	SO:0001819	synonymous_variant	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.chr5:90449160G>A	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.18747G>A	5.37:g.90449160G>A						GPR98_uc003kjt.2_Silent_p.L3955L|GPR98_uc003kjw.2_Silent_p.L1910L|GPR98_uc003kjx.2_Silent_p.L277L	p.L6249L	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)	89	18843	+		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)	6249			Cytoplasmic (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.18747G>A	CCDS47246.1																																																																																				0.478	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		5	27	0	0	0	0.000602	0	5	27		
CHD1	1105	broad.mit.edu	37	5	98207807	98207807	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:98207807T>C	ENST00000284049.3	-	27	3958	c.3809A>G	c.(3808-3810)tAt>tGt	p.Y1270C	CHD1_ENST00000511067.1_5'Flank	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1270					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.Y1270C(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCAGCTTCCATATCCATATTC	0.353																																						uc003knf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(3808-3810)TAT>TGT		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						131.0	134.0	133.0					5																	98207807		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98207807T>C	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3809A>G	5.37:g.98207807T>C	ENSP00000284049:p.Tyr1270Cys					CHD1_uc010jbn.2_Translation_Start_Site	p.Y1270C	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	27	3957	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1270					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.3809A>G	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.127706	0.77549	.	.	ENSG00000153922	ENST00000284049	D	0.91180	-2.8	5.29	5.29	0.74685	.	0.000000	0.31246	U	0.007998	D	0.94185	0.8134	M	0.72894	2.215	0.80722	D	1	D	0.64830	0.994	D	0.63192	0.912	D	0.94845	0.8008	10	0.87932	D	0	.	15.526	0.75905	0.0:0.0:0.0:1.0	.	1270	O14646	CHD1_HUMAN	C	1270	ENSP00000284049:Y1270C	ENSP00000284049:Y1270C	Y	-	2	0	CHD1	98235707	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.143000	0.66587	0.528000	0.53228	TAT		0.353	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1		NM_001270		34	144	0	0	0	0.012213	0	34	144		
SLCO4C1	353189	broad.mit.edu	37	5	101593786	101593786	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:101593786C>G	ENST00000310954.6	-	7	1420	c.1134G>C	c.(1132-1134)ttG>ttC	p.L378F		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.L378F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CATTCTTCATCAAATTCTAAA	0.274																																						uc003knm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(1132-1134)TTG>TTC		solute carrier organic anion transporter family,							40.0	44.0	42.0					5																	101593786		2202	4289	6491	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101593786C>G	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1134G>C	5.37:g.101593786C>G	ENSP00000309741:p.Leu378Phe						p.L378F	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	7	1421	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	378			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000310954.6	37	c.1134G>C	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426950	0.62733	.	.	ENSG00000173930	ENST00000310954	D	0.84070	-1.8	5.81	3.98	0.46160	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.127934	0.32328	N	0.006245	D	0.93726	0.7995	H	0.96175	3.78	0.36250	D	0.853838	D	0.58620	0.983	D	0.67900	0.954	D	0.97610	1.0129	10	0.87932	D	0	.	16.9909	0.86353	0.0:0.6433:0.3567:0.0	.	378	Q6ZQN7	SO4C1_HUMAN	F	378	ENSP00000309741:L378F	ENSP00000309741:L378F	L	-	3	2	SLCO4C1	101621685	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.199000	0.42715	0.762000	0.33152	0.580000	0.79431	TTG		0.274	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1		NM_180991		23	55	0	0	0	0.00278	0	23	55		
NUDT12	83594	broad.mit.edu	37	5	102891757	102891757	+	Missense_Mutation	SNP	C	C	T	rs531325504	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:102891757C>T	ENST00000230792.2	-	4	935	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Missense_Mutation_p.R262Q	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	280					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)	p.R280Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		AAACTTGTATCGACTGTGCCA	0.353													C|||	2	0.000399361	0.0	0.0	5008	,	,		15043	0.002		0.0	False		,,,				2504	0.0					uc003koi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(838-840)CGA>CAA		nudix-type motif 12							108.0	103.0	105.0					5																	102891757		2202	4300	6502	SO:0001583	missense	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102891757C>T	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.839G>A	5.37:g.102891757C>T	ENSP00000230792:p.Arg280Gln					NUDT12_uc011cvb.1_Missense_Mutation_p.R262Q	p.R280Q	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	4	932	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	280					B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.839G>A	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	C	35	5.510433	0.96386	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.44482	0.92;0.92	5.25	5.25	0.73442	NUDIX hydrolase domain (1);Zinc ribbon, NADH pyrophosphatase (1);NUDIX hydrolase domain-like (1);	0.109917	0.64402	D	0.000005	T	0.61602	0.2360	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.64830	0.994;0.992	P;P	0.59171	0.701;0.853	T	0.62599	-0.6820	10	0.49607	T	0.09	-4.5158	19.175	0.93600	0.0:1.0:0.0:0.0	.	262;280	E7EM93;Q9BQG2	.;NUD12_HUMAN	Q	280;262	ENSP00000230792:R280Q;ENSP00000424521:R262Q	ENSP00000230792:R280Q	R	-	2	0	NUDT12	102919656	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.544000	0.60691	2.594000	0.87642	0.650000	0.86243	CGA		0.353	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1		NM_031438		19	92	0	0	0	0.012319	0	19	92		
FER	2241	broad.mit.edu	37	5	108281850	108281850	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:108281850C>G	ENST00000281092.4	+	11	1640	c.1256C>G	c.(1255-1257)tCc>tGc	p.S419C	FER_ENST00000438717.2_Missense_Mutation_p.S244C|FER_ENST00000536402.1_Missense_Mutation_p.P315A	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	419					actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.S419C(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GAGAGGCTATCCAAATTTGAA	0.378																																					Colon(146;1051 1799 9836 27344 47401)	uc003kop.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.(1255-1257)TCC>TGC		fer (fps/fes related) tyrosine kinase							123.0	129.0	127.0					5																	108281850		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108281850C>G	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1256C>G	5.37:g.108281850C>G	ENSP00000281092:p.Ser419Cys					FER_uc011cvf.1_RNA|FER_uc011cvg.1_Missense_Mutation_p.S244C	p.S419C	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	11	1640	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	419					B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1256C>G	CCDS4098.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.344225|4.344225	0.82022|0.82022	.|.	.|.	ENSG00000151422|ENSG00000151422	ENST00000536402|ENST00000281092;ENST00000438717	T|T;T	0.23754|0.76060	1.89|-0.99;-0.98	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85261|0.85261	0.5656|0.5656	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.79784	.|0.993	D|D	0.85547|0.85547	0.1219|0.1219	7|10	0.14252|0.62326	T|D	0.57|0.03	-6.4934|-6.4934	19.6346|19.6346	0.95724|0.95724	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|419	.|P16591	.|FER_HUMAN	A|C	315|419;244	ENSP00000442627:P315A|ENSP00000281092:S419C;ENSP00000394297:S244C	ENSP00000442627:P315A|ENSP00000281092:S419C	P|S	+|+	1|2	0|0	FER|FER	108309749|108309749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	6.910000|6.910000	0.75741|0.75741	2.720000|2.720000	0.93068|0.93068	0.491000|0.491000	0.48974|0.48974	CCA|TCC		0.378	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1		NM_005246		32	112	0	0	0	0.004878	0	32	112		
CAMK4	814	broad.mit.edu	37	5	110818485	110818485	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:110818485C>T	ENST00000282356.4	+	10	1229	c.831C>T	c.(829-831)gtC>gtT	p.V277V	CAMK4_ENST00000512453.1_Silent_p.V277V|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.V277V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TATTTCAGGTCAGAAAATTAA	0.418																																						uc011cvj.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|lung(2)	5						c.(829-831)GTC>GTT		calcium/calmodulin-dependent protein kinase IV							73.0	76.0	75.0					5																	110818485		2202	4300	6502	SO:0001819	synonymous_variant	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110818485C>T	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.831C>T	5.37:g.110818485C>T						CAMK4_uc003kpf.2_Silent_p.V277V|CAMK4_uc010jbv.2_Silent_p.V80V|CAMK4_uc003kpg.2_5'UTR	p.V277V	NM_001744	NP_001735	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	11	930	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	277			Protein kinase.		D3DSZ7	Silent	SNP	ENST00000282356.4	37	c.831C>T	CCDS4103.1																																																																																				0.418	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2		NM_001744		15	95	0	0	0	0.003163	0	15	95		
TSSK1B	83942	broad.mit.edu	37	5	112769841	112769841	+	Silent	SNP	G	G	A	rs373955795	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:112769841G>A	ENST00000390666.3	-	1	887	c.696C>T	c.(694-696)cgC>cgT	p.R232R	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	232	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R232R(1)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GGAAGTTGACGCGGTGCTCCT	0.587													G|||	3	0.000599042	0.0	0.0	5008	,	,		21258	0.0		0.0	False		,,,				2504	0.0031					uc003kqm.2		NaN																	1	Substitution - coding silent(1)	p.R232H(1)	urinary_tract(1)	ovary(2)|skin(2)|stomach(1)	5						c.(694-696)CGC>CGT		testis-specific serine kinase 1		G	,	0,4404		0,0,2202	81.0	74.0	76.0		,696	0.9	0.5	5		76	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	MCC,TSSK1B	NM_001085377.1,NM_032028.3	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	,232/368	112769841	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112769841G>A	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.696C>T	5.37:g.112769841G>A						MCC_uc003kql.3_Intron	p.R232R	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	888	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	232			Protein kinase.		B2R8D9	Silent	SNP	ENST00000390666.3	37	c.696C>T	CCDS4112.1																																																																																				0.587	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2		NM_032028		16	65	0	0	0	0.00499	0	16	65		
KCNN2	3781	broad.mit.edu	37	5	113831654	113831654	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:113831654G>C	ENST00000512097.3	+	9	2533	c.1515G>C	c.(1513-1515)aaG>aaC	p.K505N	KCNN2_ENST00000264773.3_Missense_Mutation_p.K505N|KCNN2_ENST00000503706.1_Missense_Mutation_p.K157N|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	505					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.K505N(1)|p.K157N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	ACTTCGAGAAGAGGATTGTTA	0.428																																						uc003kqo.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(1513-1515)AAG>AAC		small conductance calcium-activated potassium							120.0	124.0	123.0					5																	113831654		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113831654G>C	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1515G>C	5.37:g.113831654G>C	ENSP00000427120:p.Lys505Asn					KCNN2_uc003kqp.2_Missense_Mutation_p.K157N|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	p.K505N	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	8	1972	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	505					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.1515G>C	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704988	0.68615	.	.	ENSG00000080709	ENST00000264773;ENST00000503706	D;D	0.98493	-4.96;-3.34	5.28	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	M	0.76574	2.34	0.80722	D	1	B	0.24618	0.107	B	0.25987	0.065	D	0.95613	0.8674	10	0.33141	T	0.24	.	12.6044	0.56514	0.0818:0.0:0.9182:0.0	.	505	Q9H2S1	KCNN2_HUMAN	N	505;157	ENSP00000264773:K505N;ENSP00000421439:K157N	ENSP00000264773:K505N	K	+	3	2	KCNN2	113859553	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.334000	0.59291	1.211000	0.43351	0.643000	0.83706	AAG		0.428	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2		NM_021614		38	160	0	0	0	0.004878	0	38	160		
SHROOM1	134549	broad.mit.edu	37	5	132160910	132160910	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:132160910G>A	ENST00000378679.3	-	4	1727	c.923C>T	c.(922-924)tCa>tTa	p.S308L	SHROOM1_ENST00000378676.1_Missense_Mutation_p.S308L|SHROOM1_ENST00000319854.3_Missense_Mutation_p.S308L|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	308					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)	p.S308L(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACTTCGCCTGAAGCGCTCCG	0.617																																						uc003kxx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(922-924)TCA>TTA		shroom family member 1							39.0	43.0	42.0					5																	132160910		2203	4300	6503	SO:0001583	missense	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132160910G>A	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.923C>T	5.37:g.132160910G>A	ENSP00000367950:p.Ser308Leu					SHROOM1_uc003kxy.1_Missense_Mutation_p.S308L	p.S308L	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	1728	-			308					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	c.923C>T	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961672	0.74016	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676;ENST00000440118	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	4.7	4.7	0.59300	.	1.932640	0.02544	N	0.094882	T	0.39989	0.1099	L	0.32530	0.975	0.09310	N	1	D;D	0.71674	0.998;0.997	D;D	0.68943	0.961;0.916	T	0.47535	-0.9110	10	0.36615	T	0.2	-6.5757	13.8589	0.63548	0.0:0.0:1.0:0.0	.	308;308	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	L	308	ENSP00000367950:S308L;ENSP00000324245:S308L;ENSP00000367947:S308L;ENSP00000388049:S308L	ENSP00000324245:S308L	S	-	2	0	SHROOM1	132188809	0.900000	0.30661	0.097000	0.21041	0.004000	0.04260	4.815000	0.62634	2.542000	0.85734	0.561000	0.74099	TCA		0.617	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1		NM_133456		11	34	0	0	0	0.001855	0	11	34		
ANKHD1	54882	broad.mit.edu	37	5	139905956	139905956	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:139905956C>G	ENST00000360839.2	+	26	5022	c.4868C>G	c.(4867-4869)tCt>tGt	p.S1623C	ANKHD1_ENST00000297183.6_Missense_Mutation_p.S1623C|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_Missense_Mutation_p.S6C|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S1623C	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1623						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S1623C(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATTCCTCTAAATACCCC	0.393																																						uc003lfs.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(6)	6						c.(4867-4869)TCT>TGT		ANKHD1-EIF4EBP3 protein							122.0	130.0	128.0					5																	139905956		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139905956C>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4868C>G	5.37:g.139905956C>G	ENSP00000354085:p.Ser1623Cys					ANKHD1_uc003lfr.2_Missense_Mutation_p.S1623C|ANKHD1_uc003lfu.1_Missense_Mutation_p.S1103C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.S362C|ANKHD1_uc003lfw.2_Missense_Mutation_p.S261C|ANKHD1_uc010jfl.2_Missense_Mutation_p.S58C|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	p.S1623C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4992	+			1623					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.4868C>G	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757109	0.69648	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219	T;T;T;T;T;T	0.32753	1.84;1.84;1.84;1.84;1.44;1.84	5.41	4.53	0.55603	.	0.430329	0.26119	N	0.026234	T	0.31136	0.0787	L	0.38175	1.15	0.35732	D	0.817972	P;P;B;B;B;B	0.39326	0.612;0.668;0.214;0.115;0.07;0.07	B;B;B;B;B;B	0.42692	0.319;0.395;0.241;0.303;0.159;0.159	T	0.43491	-0.9388	10	0.59425	D	0.04	.	14.4866	0.67622	0.0:0.8534:0.1466:0.0	.	6;53;1623;1623;1623;1623	Q8IWG5;Q9H059;E9PF56;Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;.;.;.;ANKH1_HUMAN	C	1623;1623;1623;279;58;145;6;1623	ENSP00000354085:S1623C;ENSP00000297183:S1623C;ENSP00000393204:S279C;ENSP00000390034:S145C;ENSP00000437687:S6C;ENSP00000432016:S1623C	ENSP00000432016:S1623C	S	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139886140	0.950000	0.32346	0.912000	0.35992	0.698000	0.40448	5.489000	0.66875	1.259000	0.44117	0.557000	0.71058	TCT		0.393	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		33	104	0	0	0	0.010818	0	33	104		
ANKHD1	54882	broad.mit.edu	37	5	139905979	139905979	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:139905979C>G	ENST00000360839.2	+	26	5045	c.4891C>G	c.(4891-4893)Cat>Gat	p.H1631D	ANKHD1_ENST00000297183.6_Missense_Mutation_p.H1631D|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_Missense_Mutation_p.H14D|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.H1631D	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1631						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.H1631D(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCTCCTTCATTCCCAAGA	0.418																																						uc003lfs.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(6)	6						c.(4891-4893)CAT>GAT		ANKHD1-EIF4EBP3 protein							109.0	114.0	112.0					5																	139905979		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139905979C>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4891C>G	5.37:g.139905979C>G	ENSP00000354085:p.His1631Asp					ANKHD1_uc003lfr.2_Missense_Mutation_p.H1631D|ANKHD1_uc003lfu.1_Missense_Mutation_p.H1111D|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.H370D|ANKHD1_uc003lfw.2_Missense_Mutation_p.H269D|ANKHD1_uc010jfl.2_Missense_Mutation_p.H66D|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	p.H1631D	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	5015	+			1631					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.4891C>G	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.55|12.55	1.972114|1.972114	0.34754|0.34754	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219|ENST00000435794;ENST00000432301	T;T;T;T;T;T|.	0.29142|.	2.03;2.03;2.03;2.03;1.58;2.03|.	5.21|5.21	4.27|4.27	0.50696|0.50696	.|.	0.975527|.	0.08462|.	N|.	0.942204|.	T|.	0.29882|.	0.0747|.	N|N	0.14661|0.14661	0.345|0.345	0.21762|0.21762	N|N	0.999558|0.999558	B;B;B;B;B;B|.	0.18610|.	0.029;0.002;0.002;0.001;0.001;0.001|.	B;B;B;B;B;B|.	0.15870|.	0.014;0.002;0.003;0.006;0.002;0.002|.	T|.	0.18871|.	-1.0323|.	10|.	0.35671|.	T|.	0.21|.	.|.	12.5555|12.5555	0.56250|0.56250	0.367:0.633:0.0:0.0|0.367:0.633:0.0:0.0	.|.	14;61;1631;1631;1631;1631|.	Q8IWG5;Q9H059;E9PF56;Q8IWZ3-4;Q8IWZ2;Q8IWZ3|.	.;.;.;.;.;ANKH1_HUMAN|.	D|X	1631;1631;1631;287;66;153;14;1631|121;81	ENSP00000354085:H1631D;ENSP00000297183:H1631D;ENSP00000393204:H287D;ENSP00000390034:H153D;ENSP00000437687:H14D;ENSP00000432016:H1631D|.	ENSP00000432016:H1631D|.	H|S	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139886163|139886163	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.869000|0.869000	0.49853|0.49853	3.442000|3.442000	0.52900|0.52900	1.007000|1.007000	0.39238|0.39238	0.557000|0.557000	0.71058|0.71058	CAT|TCA		0.418	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		35	96	0	0	0	0.003755	0	35	96		
PCDHA7	56141	broad.mit.edu	37	5	140214299	140214299	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140214299G>A	ENST00000525929.1	+	1	331	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.E111K	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	111	Cadherin 1. {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.E111K(2)		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)			GGTGATCGTGGAAAGGCCGCT	0.557																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|skin(2)	4						c.(331-333)GAA>AAA		protocadherin alpha 7 isoform 1 precursor							147.0	176.0	166.0					5																	140214299		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140214299G>A	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.331G>A	5.37:g.140214299G>A	ENSP00000436426:p.Glu111Lys					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.E111K	p.E111K	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	331	+			111			Cadherin 1.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.331G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479411	0.63849	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.33654	1.4;1.4	3.99	3.99	0.46301	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.275715	0.18390	U	0.142694	T	0.47469	0.1447	M	0.65320	2	0.29663	N	0.843109	B;P	0.39520	0.423;0.676	P;B	0.46389	0.515;0.349	T	0.54423	-0.8296	10	0.87932	D	0	.	16.5115	0.84287	0.0:0.0:1.0:0.0	.	111;111	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	K	111	ENSP00000436426:E111K;ENSP00000367365:E111K	ENSP00000367365:E111K	E	+	1	0	PCDHA7	140194483	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	5.368000	0.66133	1.923000	0.55706	0.449000	0.29647	GAA		0.557	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2		NM_018910		37	351	0	0	0	0.004878	0	37	351		
PCDHA9	9752	broad.mit.edu	37	5	140228411	140228411	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140228411G>A	ENST00000532602.1	+	1	1364	c.331G>A	c.(331-333)Gac>Aac	p.D111N	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D111N|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	111	Cadherin 1. {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.D111N(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGATCGTAGACAGGCCGCT	0.547																																					Melanoma(55;1800 1972 14909)	uc003lhu.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(2)|ovary(2)|skin(1)	5						c.(331-333)GAC>AAC		protocadherin alpha 9 isoform 1 precursor							110.0	87.0	95.0					5																	140228411		2176	4121	6297	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140228411G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.331G>A	5.37:g.140228411G>A	ENSP00000436042:p.Asp111Asn					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_uc003lht.1_Missense_Mutation_p.D111N	p.D111N	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1055	+			111			Cadherin 1.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.331G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199042	0.58126	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.27104	1.69;1.69	4.13	4.13	0.48395	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.275715	0.18390	U	0.142694	T	0.26919	0.0659	M	0.64080	1.96	0.29566	N	0.850271	B;P	0.42518	0.084;0.782	B;B	0.33254	0.081;0.16	T	0.39057	-0.9632	10	0.87932	D	0	.	16.9231	0.86168	0.0:0.0:1.0:0.0	.	111;111	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	N	111	ENSP00000436042:D111N;ENSP00000367362:D111N	ENSP00000367362:D111N	D	+	1	0	PCDHA9	140208595	1.000000	0.71417	0.997000	0.53966	0.839000	0.47603	3.708000	0.54845	2.263000	0.75096	0.591000	0.81541	GAC		0.547	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2		NM_031857		12	205	0	0	0	0.00333	0	12	205		
PCDHB7	56129	broad.mit.edu	37	5	140553716	140553716	+	Missense_Mutation	SNP	G	G	A	rs200306187		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140553716G>A	ENST00000231137.3	+	1	1474	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	434	Cadherin 4. {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.E434K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGAAAACCGAGCACAACAT	0.537																																						uc003lit.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1300-1302)GAG>AAG		protocadherin beta 7 precursor							155.0	138.0	144.0					5																	140553716		2203	4298	6501	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553716G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1300G>A	5.37:g.140553716G>A	ENSP00000231137:p.Glu434Lys						p.E434K	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1474	+			434			Extracellular (Potential).|Cadherin 4.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1300G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	4.246	0.044700	0.08196	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.01725	4.67	4.44	-1.35	0.09114	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03136	0.0092	M	0.70595	2.14	0.09310	N	1	P	0.49253	0.921	B	0.42343	0.384	T	0.35251	-0.9796	9	0.59425	D	0.04	.	10.3252	0.43790	0.2104:0.2951:0.4945:0.0	.	434	Q9Y5E2	PCDB7_HUMAN	K	434;217	ENSP00000231137:E434K	ENSP00000231137:E434K	E	+	1	0	PCDHB7	140533900	0.000000	0.05858	0.083000	0.20561	0.020000	0.10135	-1.207000	0.03008	-0.177000	0.10690	-0.369000	0.07265	GAG		0.537	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2		NM_018940		40	105	0	0	0	0.005524	0	40	105		
PCDHB14	56122	broad.mit.edu	37	5	140605331	140605331	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140605331G>A	ENST00000239449.4	+	1	2254	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K	PCDHB14_ENST00000515856.2_Missense_Mutation_p.E599K	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	752					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E752K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCAATACGAGGTGTGTCT	0.572																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2254-2256)GAG>AAG		protocadherin beta 14 precursor							97.0	110.0	105.0					5																	140605331		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605331G>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2254G>A	5.37:g.140605331G>A	ENSP00000239449:p.Glu752Lys					PCDHB14_uc011dal.1_Missense_Mutation_p.E599K	p.E752K	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2254	+			752			Cytoplasmic (Potential).		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.2254G>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	12.08	1.829557	0.32329	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.14766	2.48;2.48	4.2	4.2	0.49525	.	.	.	.	.	T	0.17408	0.0418	M	0.82823	2.61	0.33245	D	0.557692	P	0.41214	0.742	B	0.34138	0.176	T	0.36040	-0.9764	9	0.59425	D	0.04	.	8.3886	0.32516	0.1844:0.0:0.8156:0.0	.	752	Q9Y5E9	PCDBE_HUMAN	K	599;752	ENSP00000444518:E599K;ENSP00000239449:E752K	ENSP00000239449:E752K	E	+	1	0	PCDHB14	140585515	0.981000	0.34729	0.997000	0.53966	0.013000	0.08279	2.927000	0.48900	2.042000	0.60477	0.586000	0.80456	GAG		0.572	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2		NM_018934		42	154	0	0	0	0.01441	0	42	154		
PCDHGA7	56108	broad.mit.edu	37	5	140763130	140763130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140763130C>T	ENST00000518325.1	+	1	664	c.664C>T	c.(664-666)Cga>Tga	p.R222*	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	222	Cadherin 2. {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.R222*(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACCCGCCCCGATCCAGCAC	0.607																																						uc003lka.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(664-666)CGA>TGA		protocadherin gamma subfamily A, 7 isoform 1							18.0	21.0	20.0					5																	140763130		2071	4192	6263	SO:0001587	stop_gained	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140763130C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.664C>T	5.37:g.140763130C>T	ENSP00000430024:p.Arg222*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Nonsense_Mutation_p.R222*	p.R222*	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	664	+			222			Extracellular (Potential).|Cadherin 2.		B2RN87|Q9Y5D0	Nonsense_Mutation	SNP	ENST00000518325.1	37	c.664C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.009334	0.35415	.	.	ENSG00000253537	ENST00000518325	.	.	.	5.08	-0.0129	0.13986	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2416	0.20793	0.4247:0.3957:0.0:0.1796	.	.	.	.	X	222	.	ENSP00000430024:R222X	R	+	1	2	PCDHGA7	140743314	0.000000	0.05858	0.001000	0.08648	0.170000	0.22686	-0.624000	0.05540	-0.242000	0.09667	0.650000	0.86243	CGA		0.607	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1		NM_018920		7	15	0	0	0	0.001984	0	7	15		
PCDHGA9	56107	broad.mit.edu	37	5	140783493	140783493	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140783493G>A	ENST00000573521.1	+	1	974	c.974G>A	c.(973-975)gGg>gAg	p.G325E	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	325	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGATGGTGGGGGATTGAAA	0.378																																						uc003lkh.1		NaN																	0					0						c.(973-975)GGG>GAG		protocadherin gamma subfamily A, 9 isoform 1							148.0	147.0	148.0					5																	140783493		1910	4122	6032	SO:0001583	missense	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140783493G>A	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.974G>A	5.37:g.140783493G>A	ENSP00000460274:p.Gly325Glu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.G325E	p.G325E	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	974	+			325			Cadherin 3.|Extracellular (Potential).		A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.974G>A	CCDS58981.1																																																																																				0.378	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1		NM_018921		41	131	0	0	0	0.01441	0	41	131		
PCDHGC5	56097	broad.mit.edu	37	5	140870089	140870089	+	Missense_Mutation	SNP	G	G	A	rs191201177		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140870089G>A	ENST00000252087.1	+	1	1282	c.1282G>A	c.(1282-1284)Gat>Aat	p.D428N	PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D428N(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCCAGCGATGCTGGTTC	0.512																																						uc003lla.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)	3						c.(1282-1284)GAT>AAT		protocadherin gamma subfamily C, 5 isoform 1							203.0	205.0	205.0					5																	140870089		2203	4300	6503	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140870089G>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1282G>A	5.37:g.140870089G>A	ENSP00000252087:p.Asp428Asn					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.D428N	p.D428N	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1282	+			428			Extracellular (Potential).|Cadherin 4.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.1282G>A	CCDS4263.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	23.0	4.367662	0.82463	.	.	ENSG00000240764	ENST00000252087	T	0.65364	-0.15	5.56	5.56	0.83823	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000017	D	0.88130	0.6354	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92053	0.5650	10	0.87932	D	0	.	19.3074	0.94169	0.0:0.0:1.0:0.0	.	428;428	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	N	428	ENSP00000252087:D428N	ENSP00000252087:D428N	D	+	1	0	PCDHGC5	140850273	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.765000	0.85310	2.890000	0.99128	0.655000	0.94253	GAT		0.512	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1		NM_018929		76	244	0	0	0	0.01441	0	76	244		
GLRA1	2741	broad.mit.edu	37	5	151231107	151231107	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:151231107C>G	ENST00000455880.2	-	7	1042	c.756G>C	c.(754-756)ctG>ctC	p.L252L	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000274576.4_Silent_p.L252L|GLRA1_ENST00000545569.1_Silent_p.L169L			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	252					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)	p.L252L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACATCTGAATCAGGTAGTAAC	0.512																																						uc003lut.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(754-756)CTG>CTC		glycine receptor, alpha 1 isoform 1 precursor	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						135.0	124.0	127.0					5																	151231107		2203	4300	6503	SO:0001819	synonymous_variant	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151231107C>G		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.756G>C	5.37:g.151231107C>G						GLRA1_uc003lur.2_Silent_p.L252L|GLRA1_uc003lus.2_Silent_p.L169L	p.L252L	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		7	1043	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	252			Helical; (Probable).		B2R6T3|Q14C77|Q6DJV9	Silent	SNP	ENST00000455880.2	37	c.756G>C	CCDS54942.1																																																																																				0.512	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1				20	88	0	0	0	0.008871	0	20	88		
MRPL22	29093	broad.mit.edu	37	5	154330479	154330479	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:154330479G>C	ENST00000523037.1	+	3	217	c.176G>C	c.(175-177)gGa>gCa	p.G59A	MRPL22_ENST00000522038.1_Missense_Mutation_p.G65A|MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000439747.3_Missense_Mutation_p.G85A	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	59					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.G59A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAACTGCCTGGAGAACCTCGG	0.373																																						uc003lvy.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(175-177)GGA>GCA		mitochondrial ribosomal protein L22 isoform a							82.0	81.0	81.0					5																	154330479		2203	4300	6503	SO:0001583	missense	29093				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr5:154330479G>C	AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"""Mitochondrial ribosomal proteins / large subunits"""	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.176G>C	5.37:g.154330479G>C	ENSP00000431040:p.Gly59Ala					MRPL22_uc003lvz.3_Intron	p.G59A	NM_014180	NP_054899	Q9NWU5	RM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		3	214	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	59					A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Missense_Mutation	SNP	ENST00000523037.1	37	c.176G>C	CCDS4331.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996820	0.54147	.	.	ENSG00000082515	ENST00000523037;ENST00000439747;ENST00000522038	T;T;T	0.41065	1.01;1.01;1.01	4.9	4.02	0.46733	.	0.252381	0.43110	D	0.000614	T	0.43678	0.1258	M	0.68593	2.085	0.42889	D	0.994192	P	0.38020	0.615	B	0.41510	0.359	T	0.44605	-0.9317	10	0.46703	T	0.11	-0.9768	10.1219	0.42625	0.0959:0.0:0.9041:0.0	.	59	Q9NWU5	RM22_HUMAN	A	59;85;65	ENSP00000431040:G59A;ENSP00000411177:G85A;ENSP00000429039:G65A	ENSP00000411177:G85A	G	+	2	0	MRPL22	154310672	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.962000	0.56766	2.404000	0.81709	0.591000	0.81541	GGA		0.373	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252508.2				26	73	0	0	0	0.00632	0	26	73		
FNDC9	408263	broad.mit.edu	37	5	156770349	156770349	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:156770349G>C	ENST00000312349.4	-	2	383	c.196C>G	c.(196-198)Ctt>Gtt	p.L66V	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	66	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)		p.L66V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GAAGGGGCAAGATGTTCCAGC	0.547																																						uc003lwu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(196-198)CTT>GTT		hypothetical protein LOC408263							176.0	132.0	147.0					5																	156770349		2203	4300	6503	SO:0001583	missense	408263					integral to membrane		g.chr5:156770349G>C	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.196C>G	5.37:g.156770349G>C	ENSP00000310594:p.Leu66Val					CYFIP2_uc003lwq.2_Intron|CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Intron|CYFIP2_uc003lws.2_Intron|CYFIP2_uc003lwt.2_Intron|CYFIP2_uc011ddp.1_Intron	p.L66V	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	384	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	66			Fibronectin type-III.		A8K0Y6	Missense_Mutation	SNP	ENST00000312349.4	37	c.196C>G	CCDS4337.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909282	0.72868	.	.	ENSG00000172568	ENST00000312349;ENST00000520782	T;T	0.38240	1.15;1.15	5.19	4.32	0.51571	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000021	T	0.46308	0.1386	L	0.29908	0.895	0.40223	D	0.977762	D	0.89917	1.0	D	0.85130	0.997	T	0.49113	-0.8973	10	0.87932	D	0	-15.54	12.2354	0.54512	0.0819:0.0:0.9181:0.0	.	66	Q8TBE3	FNDC9_HUMAN	V	66	ENSP00000310594:L66V;ENSP00000429434:L66V	ENSP00000310594:L66V	L	-	1	0	FNDC9	156702927	1.000000	0.71417	0.989000	0.46669	0.979000	0.70002	5.907000	0.69908	2.423000	0.82170	0.491000	0.48974	CTT		0.547	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2		NM_001001343		24	92	0	0	0	0.00278	0	24	92		
ZBED8	63920	broad.mit.edu	37	5	159822236	159822236	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:159822236C>T	ENST00000408953.3	-	2	769	c.262G>A	c.(262-264)Gag>Aag	p.E88K	C5orf54_ENST00000523213.1_Missense_Mutation_p.E88K	NM_022090.3	NP_071373.2												p.E88K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						aaagtatcctcatgagatgca	0.423																																						uc003lye.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(262-264)GAG>AAG		transposon-derived Buster3 transposase-like							143.0	134.0	137.0					5																	159822236		2203	4300	6503	SO:0001583	missense	63920							g.chr5:159822236C>T																												ENST00000408953.3:c.262G>A	5.37:g.159822236C>T	ENSP00000386184:p.Glu88Lys					C5orf54_uc003lyf.1_Missense_Mutation_p.E88K	p.E88K	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN			2	726	-			88						Missense_Mutation	SNP	ENST00000408953.3	37	c.262G>A	CCDS34283.1	.	.	.	.	.	.	.	.	.	.	C	4.321	0.059007	0.08339	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.14144	2.53;2.53	3.57	3.57	0.40892	.	.	.	.	.	T	0.13072	0.0317	N	0.24115	0.695	0.26863	N	0.967901	D	0.61697	0.99	P	0.52957	0.714	T	0.02471	-1.1154	9	0.07644	T	0.81	.	10.9973	0.47585	0.0:1.0:0.0:0.0	.	88	Q8IZ13	CE054_HUMAN	K	88	ENSP00000386184:E88K;ENSP00000428831:E88K	ENSP00000386184:E88K	E	-	1	0	C5orf54	159754814	0.984000	0.35163	0.905000	0.35620	0.998000	0.95712	1.369000	0.34227	2.304000	0.77564	0.650000	0.86243	GAG		0.423	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1				47	133	0	0	0	0.01441	0	47	133		
TENM2	57451	broad.mit.edu	37	5	167553912	167553912	+	Missense_Mutation	SNP	G	G	A	rs200354006		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:167553912G>A	ENST00000518659.1	+	12	2402	c.2363G>A	c.(2362-2364)cGa>cAa	p.R788Q	TENM2_ENST00000545108.1_Missense_Mutation_p.R788Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R621Q|TENM2_ENST00000519204.1_Missense_Mutation_p.R667Q|TENM2_ENST00000520394.1_Missense_Mutation_p.R556Q|CTB-178M22.1_ENST00000517408.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	788	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R788Q(1)|p.R621Q(1)|p.R667Q(1)									TGTGAATGCCGAGAGGGCTGG	0.532																																						uc010jjd.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(6)|central_nervous_system(4)	10						c.(2362-2364)CGA>CAA		odz, odd Oz/ten-m homolog 2		G	GLN/ARG	0,4054		0,0,2027	48.0	59.0	55.0		2363	5.8	1.0	5		55	1,8363		0,1,4181	yes	missense	ODZ2	NM_001122679.1	43	0,1,6208	AA,AG,GG		0.012,0.0,0.0081	benign	788/2766	167553912	1,12417	2027	4182	6209	SO:0001583	missense	57451							g.chr5:167553912G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2363G>A	5.37:g.167553912G>A	ENSP00000429430:p.Arg788Gln					ODZ2_uc003lzr.3_Missense_Mutation_p.R556Q|ODZ2_uc003lzt.3_Missense_Mutation_p.R152Q|ODZ2_uc010jje.2_Missense_Mutation_p.R59Q|uc003lzs.1_Intron	p.R788Q	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	12	2363	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.2363G>A		.	.	.	.	.	.	.	.	.	.	G	12.34	1.908240	0.33721	0.0	1.2E-4	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8	5.8	5.8	0.92144	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.610245	0.17579	N	0.169195	T	0.05502	0.0145	N	0.03294	-0.36	0.31645	N	0.647595	B;B;B	0.28933	0.08;0.048;0.228	B;B;B	0.25987	0.065;0.03;0.024	T	0.21280	-1.0250	10	0.28530	T	0.3	.	13.2791	0.60205	0.0719:0.0:0.928:0.0	.	788;788;556	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	Q	788;788;667;556;621	ENSP00000429430:R788Q;ENSP00000438635:R788Q;ENSP00000428964:R667Q;ENSP00000427874:R556Q;ENSP00000384905:R621Q	ENSP00000384905:R621Q	R	+	2	0	ODZ2	167486490	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.046000	0.64226	2.735000	0.93741	0.655000	0.94253	CGA		0.532	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679		4	11	0	0	0	0.009096	0	4	11		
RPL26L1	51121	broad.mit.edu	37	5	172386933	172386933	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:172386933C>T	ENST00000521476.1	+	2	181	c.57C>T	c.(55-57)ttC>ttT	p.F19F	RPL26L1_ENST00000265100.2_Silent_p.F19F|CTC-308K20.2_ENST00000519755.1_lincRNA|CTC-308K20.1_ENST00000518818.1_RNA|CTC-308K20.1_ENST00000520067.1_RNA|RPL26L1_ENST00000519974.1_Silent_p.F19F|CTC-308K20.1_ENST00000518894.1_RNA|RPL26L1_ENST00000519239.1_Silent_p.F19F			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	19					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)	p.F19F(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACGTCACTTCAATGCCCCCT	0.567																																						uc003mcc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(55-57)TTC>TTT		ribosomal protein L26-like 1							226.0	191.0	203.0					5																	172386933		2203	4300	6503	SO:0001819	synonymous_variant	51121				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr5:172386933C>T	AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"""L ribosomal proteins"""	17050	protein-coding gene	gene with protein product			"""ribosomal protein L26 pseudogene 1"""	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.57C>T	5.37:g.172386933C>T						LOC100268168_uc011dfb.1_5'Flank|LOC100268168_uc011dfc.1_5'Flank	p.F19F	NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		2	99	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	19					B3KY82|D3DQM0	Silent	SNP	ENST00000521476.1	37	c.57C>T	CCDS4382.1																																																																																				0.567	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1		NM_016093		52	216	0	0	0	0.01441	0	52	216		
ZNF354C	30832	broad.mit.edu	37	5	178506267	178506267	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:178506267G>T	ENST00000315475.6	+	5	1140	c.834G>T	c.(832-834)gaG>gaT	p.E278D		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	278					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.E278D(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|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)	all cancers(165;0.247)		ATGAATGTGAGAAGGCATTTA	0.403																																						uc003mju.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(832-834)GAG>GAT		zinc finger protein 354C							94.0	94.0	94.0					5																	178506267		2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506267G>T		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.834G>T	5.37:g.178506267G>T	ENSP00000324064:p.Glu278Asp						p.E278D	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	949	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	278			C2H2-type 3.		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.834G>T	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320568	0.23994	.	.	ENSG00000177932	ENST00000315475	T	0.01185	5.21	3.8	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00637	0.0021	N	0.02357	-0.585	0.26599	N	0.973058	B	0.18166	0.026	B	0.19391	0.025	T	0.47209	-0.9135	9	0.72032	D	0.01	-8.9419	3.5857	0.07970	0.3285:0.1928:0.4787:0.0	.	278	Q86Y25	Z354C_HUMAN	D	278	ENSP00000324064:E278D	ENSP00000324064:E278D	E	+	3	2	ZNF354C	178438873	0.827000	0.29292	0.889000	0.34880	0.519000	0.34347	-0.138000	0.10374	0.048000	0.15891	-0.218000	0.12543	GAG		0.403	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2				38	96	1	0	2.09667e-21	0.003755	2.17397e-21	38	96		
CDYL	9425	broad.mit.edu	37	6	4943860	4943860	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:4943860C>G	ENST00000328908.5	+	7	1495	c.1364C>G	c.(1363-1365)tCt>tGt	p.S455C	CDYL_ENST00000397588.3_Missense_Mutation_p.S401C|CDYL_ENST00000343762.5_Missense_Mutation_p.S269C|CDYL_ENST00000449732.2_Missense_Mutation_p.S269C|CDYL_ENST00000472453.1_3'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	455					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)	p.S455C(1)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTAGGAGCATCTATATTGCCT	0.413																																						uc003mwi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1363-1365)TCT>TGT		chromodomain protein, Y chromosome-like isoform							139.0	137.0	137.0					6																	4943860		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4943860C>G	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1364C>G	6.37:g.4943860C>G	ENSP00000330512:p.Ser455Cys					CDYL_uc003mwj.2_Missense_Mutation_p.S401C|CDYL_uc003mwk.2_Missense_Mutation_p.S166C|CDYL_uc011dhx.1_Missense_Mutation_p.S269C|CDYL_uc011dhy.1_Missense_Mutation_p.S269C	p.S455C	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	7	1495	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	455					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.1364C>G		.	.	.	.	.	.	.	.	.	.	C	26.9	4.780715	0.90195	.	.	ENSG00000153046	ENST00000328908;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.63	5.63	0.86233	Crotonase, core (1);	0.055303	0.64402	D	0.000001	T	0.80924	0.4717	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.979;0.989	T	0.82928	-0.0214	10	0.87932	D	0	.	18.669	0.91504	0.0:1.0:0.0:0.0	.	401;455	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	C	455;401;269;269	ENSP00000330512:S455C;ENSP00000380718:S401C;ENSP00000394076:S269C;ENSP00000340908:S269C	ENSP00000330512:S455C	S	+	2	0	CDYL	4888859	1.000000	0.71417	0.958000	0.39756	0.856000	0.48823	7.642000	0.83385	2.644000	0.89710	0.655000	0.94253	TCT		0.413	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1		NM_004824		35	136	0	0	0	0.006999	0	35	136		
RREB1	6239	broad.mit.edu	37	6	7231404	7231404	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:7231404C>T	ENST00000349384.6	+	10	3386	c.3072C>T	c.(3070-3072)gtC>gtT	p.V1024V	RREB1_ENST00000334984.6_Silent_p.V1024V|RREB1_ENST00000379938.2_Silent_p.V1024V|RREB1_ENST00000379933.3_Silent_p.V1024V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1024	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V1024V(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAGCCCTGGTCAGCAGCCCTC	0.706																																						uc003mxc.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(3070-3072)GTC>GTT		ras responsive element binding protein 1 isoform							25.0	29.0	28.0					6																	7231404		2201	4284	6485	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231404C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3072C>T	6.37:g.7231404C>T						RREB1_uc003mxb.2_Silent_p.V1024V|RREB1_uc010jnx.2_Silent_p.V1024V	p.V1024V	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	3462	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1024			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.3072C>T	CCDS34336.1																																																																																				0.706	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1				24	64	0	0	0	0.00278	0	24	64		
MOG	4340	broad.mit.edu	37	6	29641179	29641179	+	IGR	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:29641179C>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Missense_Mutation_p.D217N|ZFP57_ENST00000376881.3_Missense_Mutation_p.D217N|ZFP57_ENST00000488757.1_Missense_Mutation_p.D237N	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D217N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TAGGTCTTGTCACAGAGCGTG	0.572																																						uc011dlw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)	5						c.(709-711)GAC>AAC		zinc finger protein 57 homolog							74.0	84.0	81.0					6																	29641179		1377	2609	3986	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641179C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641179C>T						ZFP57_uc003nnl.3_Missense_Mutation_p.D217N	p.D237N	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			4	860	-			153			C2H2-type 3.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.709G>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765220	0.69878	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.15487	2.42;2.42;2.42	4.55	3.65	0.41850	.	0.438594	0.19412	N	0.114911	T	0.07098	0.0180	N	0.26042	0.785	0.21897	N	0.99948	P;P	0.46859	0.885;0.885	P;P	0.45610	0.487;0.487	T	0.09015	-1.0694	10	0.54805	T	0.06	-11.9237	11.7304	0.51732	0.1779:0.8221:0.0:0.0	.	237;217	Q9NU63-3;Q9NU63-2	.;.	N	237;217;217	ENSP00000418259:D237N;ENSP00000366078:D217N;ENSP00000366080:D217N	ENSP00000366078:D217N	D	-	1	0	ZFP57	29749158	0.012000	0.17670	0.996000	0.52242	0.951000	0.60555	0.675000	0.25232	1.205000	0.43262	0.563000	0.77884	GAC		0.572	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3		NM_002433		28	95	0	0	0	0.005443	0	28	95		
RNF39	80352	broad.mit.edu	37	6	30043478	30043478	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:30043478G>A	ENST00000244360.6	-	1	186	c.89C>T	c.(88-90)gCg>gTg	p.A30V	RNF39_ENST00000376751.3_Missense_Mutation_p.A30V	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	30						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.A30V(1)									TCCGACTCCCGCATTAACTTT	0.607																																					NSCLC(8;188 360 1520 20207 31481)	uc003npe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(88-90)GCG>GTG		ring finger protein 39 isoform 1							50.0	52.0	51.0					6																	30043478		2203	4300	6503	SO:0001583	missense	80352					cytoplasm	zinc ion binding	g.chr6:30043478G>A	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.89C>T	6.37:g.30043478G>A	ENSP00000244360:p.Ala30Val					RNF39_uc003npd.2_Missense_Mutation_p.A30V	p.A30V	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN			1	151	-			30					A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	c.89C>T	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	g	21.9	4.223440	0.79464	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.72615	-0.23;-0.67	3.61	-0.308	0.12773	.	.	.	.	.	T	0.22704	0.0548	N	0.08118	0	0.26380	N	0.976744	B;B	0.17465	0.007;0.022	B;B	0.06405	0.001;0.002	T	0.13602	-1.0503	9	0.66056	D	0.02	.	1.8314	0.03131	0.1139:0.1529:0.3027:0.4305	.	30;30	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	V	30	ENSP00000365942:A30V;ENSP00000244360:A30V	ENSP00000244360:A30V	A	-	2	0	RNF39	30151457	0.739000	0.28196	0.889000	0.34880	0.818000	0.46254	0.123000	0.15708	0.137000	0.18759	0.436000	0.28706	GCG		0.607	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3		NM_170769		28	79	0	0	0	0.008361	0	28	79		
TRIM15	89870	broad.mit.edu	37	6	30139765	30139765	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:30139765C>G	ENST00000376694.4	+	7	1506	c.1037C>G	c.(1036-1038)tCc>tGc	p.S346C	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	346	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S346C(1)		large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GGCTTCTCCTCCGGGCGCCAC	0.706																																						uc010jrx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1036-1038)TCC>TGC		tripartite motif protein 15							5.0	6.0	6.0					6																	30139765		1471	2629	4100	SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30139765C>G	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.1037C>G	6.37:g.30139765C>G	ENSP00000365884:p.Ser346Cys						p.S346C	NM_033229	NP_150232	Q9C019	TRI15_HUMAN			7	1516	+			346			B30.2/SPRY.		A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	c.1037C>G	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651941	0.47362	.	.	ENSG00000204610	ENST00000376695;ENST00000376694	T	0.68479	-0.33	4.8	-0.579	0.11720	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.36234	U	0.002704	T	0.69314	0.3097	M	0.86740	2.835	0.09310	N	1	D	0.76494	0.999	D	0.70487	0.969	T	0.64879	-0.6303	10	0.62326	D	0.03	.	7.213	0.25945	0.0:0.4614:0.3781:0.1606	.	346	Q9C019	TRI15_HUMAN	C	277;346	ENSP00000365884:S346C	ENSP00000365884:S346C	S	+	2	0	TRIM15	30247744	0.000000	0.05858	0.000000	0.03702	0.693000	0.40251	-0.212000	0.09319	-0.509000	0.06532	0.478000	0.44815	TCC		0.706	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2		NM_033229		2	5	0	0	0	0.004672	0	2	5		
MUC21	394263	broad.mit.edu	37	6	30954371	30954371	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:30954371C>G	ENST00000376296.3	+	2	660	c.419C>G	c.(418-420)tCc>tGc	p.S140C	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	140	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S140C(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AACTCTGACTCCAGCACAACC	0.607																																						uc003nsh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(418-420)TCC>TGC		mucin 21 precursor							158.0	148.0	151.0					6																	30954371		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954371C>G	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.419C>G	6.37:g.30954371C>G	ENSP00000365473:p.Ser140Cys					MUC21_uc003nsi.1_RNA	p.S140C	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			2	670	+			140			28 X 15 AA approximate tandem repeats.|Ser-rich.|8.|Extracellular (Potential).		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.419C>G	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	C	9.236	1.037064	0.19669	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.04194	3.68	3.56	2.66	0.31614	.	.	.	.	.	T	0.01940	0.0061	L	0.29908	0.895	0.09310	N	1	P	0.50156	0.932	P	0.46543	0.52	T	0.49790	-0.8902	8	.	.	.	-2.3315	8.8439	0.35159	0.0:0.7686:0.2314:0.0	.	140	Q5SSG8	MUC21_HUMAN	C	140	ENSP00000365473:S140C	.	S	+	2	0	MUC21	31062350	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.108000	0.10857	0.805000	0.34159	0.485000	0.47835	TCC		0.607	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3		NM_001010909		52	222	0	0	0	0.01441	0	52	222		
BAG6	7917	broad.mit.edu	37	6	31609349	31609349	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:31609349G>A	ENST00000375964.6	-	17	2749	c.2436C>T	c.(2434-2436)atC>atT	p.I812I	BAG6_ENST00000439687.2_Silent_p.I680I|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000362049.6_Silent_p.I806I|BAG6_ENST00000211379.5_Silent_p.I806I|BAG6_ENST00000404765.2_Silent_p.I842I|BAG6_ENST00000375976.4_Silent_p.I806I	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	812					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)	p.I806I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CTAGCCCCGTGATCAATGTGT	0.537																																						uc003nvg.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(2434-2436)ATC>ATT		HLA-B associated transcript-3 isoform a							121.0	125.0	124.0					6																	31609349		2203	4300	6503	SO:0001819	synonymous_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31609349G>A	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2436C>T	6.37:g.31609349G>A						BAT3_uc003nvf.3_Silent_p.I806I|BAT3_uc003nvh.3_Silent_p.I806I|BAT3_uc003nvi.3_Silent_p.I806I|BAT3_uc011dnw.1_Silent_p.I806I|BAT3_uc011dnx.1_Silent_p.I680I	p.I812I	NM_004639	NP_004630	P46379	BAG6_HUMAN			17	2750	-			812					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	ENST00000375964.6	37	c.2436C>T	CCDS47403.1																																																																																				0.537	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_080703		62	112	0	0	0	0.01441	0	62	112		
MSH5	4439	broad.mit.edu	37	6	31710892	31710892	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:31710892G>A	ENST00000375755.3	+	5	646	c.360G>A	c.(358-360)caG>caA	p.Q120Q	MSH5_ENST00000482280.1_3'UTR|MSH5-SAPCD1_ENST00000493662.2_Silent_p.Q120Q|MSH5_ENST00000375740.3_Silent_p.Q120Q|MSH5_ENST00000375703.3_Silent_p.Q120Q|MSH5_ENST00000431848.2_5'Flank|MSH5_ENST00000534153.4_Silent_p.Q120Q|MSH5_ENST00000375742.3_Silent_p.Q120Q|MSH5_ENST00000375750.3_Silent_p.Q120Q	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	120					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.Q120Q(2)		breast(1)|ovary(2)|skin(2)	5						CAGCCTCCCAGGAGCACAGAG	0.488								Direct reversal of damage;Mismatch excision repair (MMR)																														uc003nwv.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|breast(1)	3						c.(358-360)CAG>CAA	Direct_reversal_of_damage|MMR	mutS homolog 5 isoform c							167.0	157.0	161.0					6																	31710892		1511	2709	4220	SO:0001819	synonymous_variant	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31710892G>A	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.360G>A	6.37:g.31710892G>A						MSH5_uc003nwt.1_Silent_p.Q120Q|MSH5_uc003nwu.1_Silent_p.Q120Q|MSH5_uc003nww.1_Silent_p.Q120Q|MSH5_uc003nwx.1_Silent_p.Q120Q|MSH5_uc011dof.1_5'Flank	p.Q120Q	NM_172166	NP_751898	O43196	MSH5_HUMAN			5	439	+			120					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	ENST00000375755.3	37	c.360G>A	CCDS4720.1																																																																																				0.488	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4				82	103	0	0	0	0.01441	0	82	103		
C2	717	broad.mit.edu	37	6	31913003	31913003	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:31913003G>A	ENST00000299367.5	+	18	2404	c.2128G>A	c.(2128-2130)Gac>Aac	p.D710N	C2_ENST00000469372.1_Missense_Mutation_p.D464N|C2_ENST00000468407.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.D496N|CFB_ENST00000425368.2_5'Flank|CFB_ENST00000456570.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.D578N|CFB_ENST00000556679.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	710	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.D710N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TGGCTCTGCTGACAAAAACTC	0.592																																						uc003nyf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(2128-2130)GAC>AAC		complement component 2 isoform 1 preproprotein							64.0	71.0	68.0					6																	31913003		1511	2708	4219	SO:0001583	missense	717				complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr6:31913003G>A		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.2128G>A	6.37:g.31913003G>A	ENSP00000299367:p.Asp710Asn					C2_uc011doo.1_Missense_Mutation_p.D464N|C2_uc011dop.1_Missense_Mutation_p.D496N|C2_uc010jtk.2_Missense_Mutation_p.D578N|C2_uc011doq.1_Missense_Mutation_p.D681N|C2_uc003nyg.2_Missense_Mutation_p.D487N|CFB_uc011dor.1_Intron|C2_uc003nyh.1_Silent_p.*344*|CFB_uc011dos.1_5'Flank|CFB_uc003nyi.2_5'Flank|CFB_uc003nyj.3_5'Flank	p.D710N	NM_000063	NP_000054	P06681	CO2_HUMAN		LUAD - Lung adenocarcinoma(999;0.247)	18	2392	+		Ovarian(999;0.00965)	710			Peptidase S1.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.2128G>A	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723639	0.30593	.	.	ENSG00000166278	ENST00000469372;ENST00000452323;ENST00000299367;ENST00000442278	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.56	-7.72	0.01250	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	1.631610	0.03684	N	0.245976	T	0.03348	0.0097	N	0.02011	-0.69	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.001	T	0.26189	-1.0110	10	0.10111	T	0.7	-2.5223	17.6369	0.88124	0.8435:0.0:0.1565:0.0	.	681;496;464;578;578;710	B4DV48;B4DPF3;B4DQI1;E9PFN7;B4DV20;P06681	.;.;.;.;.;CO2_HUMAN	N	464;496;710;578	ENSP00000418923:D464N;ENSP00000392322:D496N;ENSP00000299367:D710N;ENSP00000395683:D578N	ENSP00000299367:D710N	D	+	1	0	C2	32020982	0.000000	0.05858	0.000000	0.03702	0.743000	0.42351	-0.214000	0.09292	-1.377000	0.02123	0.467000	0.42956	GAC		0.592	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9				32	103	0	0	0	0.010818	0	32	103		
ITPR3	3710	broad.mit.edu	37	6	33660624	33660624	+	Silent	SNP	G	G	A	rs149058562		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:33660624G>A	ENST00000374316.5	+	56	8638	c.7578G>A	c.(7576-7578)gaG>gaA	p.E2526E	ITPR3_ENST00000605930.1_Silent_p.E2526E			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2526					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.E2526E(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TGCGTAGTGAGAAGCAGAAGA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		23209	0.0		0.001	False		,,,				2504	0.0					uc011drk.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(7576-7578)GAG>GAA		inositol 1,4,5-triphosphate receptor, type 3							170.0	134.0	146.0					6																	33660624		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33660624G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7578G>A	6.37:g.33660624G>A						ITPR3_uc003oey.2_Silent_p.E613E	p.E2526E	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			55	7797	+			2526			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.7578G>A	CCDS4783.1																																																																																				0.522	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2		NM_002224		41	64	0	0	0	0.006999	0	41	64		
ITPR3	3710	broad.mit.edu	37	6	33661456	33661456	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:33661456G>C	ENST00000374316.5	+	57	8819	c.7759G>C	c.(7759-7761)Gag>Cag	p.E2587Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.E2587Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2587					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.E2587Q(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CACGGGCCCTGAGAGCTACGT	0.552																																						uc011drk.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(7759-7761)GAG>CAG		inositol 1,4,5-triphosphate receptor, type 3							106.0	86.0	92.0					6																	33661456		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33661456G>C	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7759G>C	6.37:g.33661456G>C	ENSP00000363435:p.Glu2587Gln					ITPR3_uc003oey.2_Missense_Mutation_p.E674Q	p.E2587Q	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			56	7978	+			2587			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.7759G>C	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995653	0.93167	.	.	ENSG00000096433	ENST00000374316	T	0.44881	0.91	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.74550	0.3731	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	D	0.83973	0.0328	10	0.87932	D	0	-39.5999	19.1088	0.93309	0.0:0.0:1.0:0.0	.	2587;2257	Q14573;Q59ES2	ITPR3_HUMAN;.	Q	2587	ENSP00000363435:E2587Q	ENSP00000363435:E2587Q	E	+	1	0	ITPR3	33769434	1.000000	0.71417	0.952000	0.39060	0.681000	0.39784	9.869000	0.99810	2.527000	0.85204	0.462000	0.41574	GAG		0.552	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2		NM_002224		18	25	0	0	0	0.008871	0	18	25		
C6orf222	389384	broad.mit.edu	37	6	36298201	36298201	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:36298201C>G	ENST00000437635.2	-	2	444	c.267G>C	c.(265-267)caG>caC	p.Q89H		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	89								p.Q89H(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GCGAAGGCCTCTGCTCGCTGG	0.617																																						uc003oly.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)|breast(1)	4						c.(265-267)CAG>CAC		hypothetical protein LOC389384							57.0	58.0	58.0					6																	36298201		2203	4300	6503	SO:0001583	missense	389384							g.chr6:36298201C>G		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.267G>C	6.37:g.36298201C>G	ENSP00000418983:p.Gln89His						p.Q89H	NM_001010903	NP_001010903	P0C671	CF222_HUMAN			2	445	-			89					B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	c.267G>C	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836587	0.32421	.	.	ENSG00000189325	ENST00000437635	T	0.50813	0.73	4.98	3.16	0.36331	.	0.000000	0.42294	D	0.000738	T	0.40040	0.1101	L	0.34521	1.04	0.32716	N	0.510981	D	0.89917	1.0	D	0.91635	0.999	T	0.42224	-0.9464	10	0.72032	D	0.01	-0.818	6.9369	0.24470	0.0:0.7931:0.0:0.2069	.	89	P0C671	CF222_HUMAN	H	89	ENSP00000418983:Q89H	ENSP00000418983:Q89H	Q	-	3	2	C6orf222	36406179	0.004000	0.15560	0.860000	0.33809	0.112000	0.19704	0.099000	0.15210	1.225000	0.43566	0.471000	0.43371	CAG		0.617	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2		NM_001010903		34	121	0	0	0	0.004289	0	34	121		
PI16	221476	broad.mit.edu	37	6	36930731	36930731	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:36930731G>A	ENST00000373674.3	+	5	941	c.613G>A	c.(613-615)Gat>Aat	p.D205N		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	205					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.D205N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCCCGGAAGATGCTCAGGA	0.542																																						uc003ona.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(613-615)GAT>AAT		protease inhibitor 16 precursor							56.0	54.0	55.0					6																	36930731		2203	4300	6503	SO:0001583	missense	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36930731G>A		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.613G>A	6.37:g.36930731G>A	ENSP00000362778:p.Asp205Asn					PI16_uc003omz.1_Missense_Mutation_p.D205N|PI16_uc003onb.2_Missense_Mutation_p.D205N|PI16_uc011dts.1_5'UTR	p.D205N	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN			5	941	+			205			Extracellular (Potential).		Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	c.613G>A	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366240	0.24684	.	.	ENSG00000164530	ENST00000536757;ENST00000373674;ENST00000539035	T	0.06608	3.28	5.2	4.32	0.51571	.	0.500026	0.18397	N	0.142471	T	0.01189	0.0039	N	0.08118	0	0.09310	N	0.999994	B;B	0.29432	0.244;0.11	B;B	0.24848	0.025;0.056	T	0.45056	-0.9287	10	0.48119	T	0.1	.	9.0159	0.36170	0.1014:0.0:0.8986:0.0	.	205;205	Q6UXB8;Q6UXB8-2	PI16_HUMAN;.	N	205;205;57	ENSP00000362778:D205N	ENSP00000362778:D205N	D	+	1	0	PI16	37038709	0.999000	0.42202	0.139000	0.22197	0.002000	0.02628	2.283000	0.43470	1.542000	0.49330	0.655000	0.94253	GAT		0.542	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1		NM_153370		25	55	0	0	0	0.003954	0	25	55		
MDGA1	266727	broad.mit.edu	37	6	37620068	37620068	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:37620068C>T	ENST00000434837.3	-	7	2209	c.1031G>A	c.(1030-1032)aGt>aAt	p.S344N	MDGA1_ENST00000297153.7_Missense_Mutation_p.S344N|MDGA1_ENST00000505425.1_Missense_Mutation_p.S344N	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	344	Ig-like 4.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.S344N(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GATGTTCTCACTCTCTTTGAT	0.567																																						uc003onu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(1030-1032)AGT>AAT		MAM domain containing							43.0	49.0	47.0					6																	37620068		2166	4255	6421	SO:0001583	missense	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37620068C>T	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1031G>A	6.37:g.37620068C>T	ENSP00000402584:p.Ser344Asn					MDGA1_uc003onw.3_RNA	p.S344N	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN			7	2210	-			344			Ig-like 4.		A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	c.1031G>A	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471839	0.63737	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.16324	2.35;2.35;2.35	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000014	T	0.24774	0.0601	L	0.48986	1.54	0.42940	D	0.994341	D	0.76494	0.999	D	0.74674	0.984	T	0.01541	-1.1329	10	0.19147	T	0.46	.	18.0107	0.89222	0.0:1.0:0.0:0.0	.	344	Q8NFP4	MDGA1_HUMAN	N	344	ENSP00000402584:S344N;ENSP00000297153:S344N;ENSP00000422042:S344N	ENSP00000297153:S344N	S	-	2	0	MDGA1	37728046	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	3.079000	0.50104	2.496000	0.84212	0.655000	0.94253	AGT		0.567	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3				15	37	0	0	0	0.004007	0	15	37		
DNAH8	1769	broad.mit.edu	37	6	38834581	38834581	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:38834581C>G	ENST00000359357.3	+	45	6225	c.5971C>G	c.(5971-5973)Ctt>Gtt	p.L1991V	DNAH8_ENST00000449981.2_Missense_Mutation_p.L2208V|DNAH8_ENST00000441566.1_Intron			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1991	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1991V(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGTGGTTTTCTTGAAAATGT	0.308																																						uc003ooe.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(5971-5973)CTT>GTT		dynein, axonemal, heavy polypeptide 8							93.0	93.0	93.0					6																	38834581		2203	4299	6502	SO:0001583	missense	1769							g.chr6:38834581C>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5971C>G	6.37:g.38834581C>G	ENSP00000352312:p.Leu1991Val						p.L1991V	NM_001371	NP_001362					45	6571	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.5971C>G		.	.	.	.	.	.	.	.	.	.	C	11.29	1.595858	0.28445	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357	T;T	0.11930	2.73;2.73	5.87	5.87	0.94306	.	0.280216	0.34025	N	0.004333	T	0.04182	0.0116	N	0.16233	0.39	0.80722	D	1	B	0.14012	0.009	B	0.18871	0.023	T	0.37454	-0.9705	10	0.27785	T	0.31	.	13.492	0.61402	0.2531:0.7469:0.0:0.0	.	1991	Q96JB1	DYH8_HUMAN	V	2196;2196;1991	ENSP00000333363:L2196V;ENSP00000352312:L1991V	ENSP00000333363:L2196V	L	+	1	0	DNAH8	38942559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.252000	0.58785	2.941000	0.99782	0.655000	0.94253	CTT		0.308	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927		7	62	0	0	0	0.00308	0	7	62		
DNAH8	1769	broad.mit.edu	37	6	38881670	38881670	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:38881670C>T	ENST00000359357.3	+	65	9508	c.9254C>T	c.(9253-9255)tCt>tTt	p.S3085F	DNAH8_ENST00000449981.2_Missense_Mutation_p.S3302F|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3049F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3085	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S3085F(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCTAAACTCTCTCAGGATCTT	0.378																																						uc003ooe.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(9253-9255)TCT>TTT		dynein, axonemal, heavy polypeptide 8							139.0	136.0	137.0					6																	38881670		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38881670C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9254C>T	6.37:g.38881670C>T	ENSP00000352312:p.Ser3085Phe					uc003oof.1_Intron	p.S3085F	NM_001371	NP_001362					65	9854	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.9254C>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.050709	0.75960	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.74632	-0.86;-0.86;-0.86	6.08	6.08	0.98989	Dynein heavy chain, coiled coil stalk (1);	0.119021	0.64402	D	0.000018	D	0.88258	0.6388	M	0.92412	3.305	0.47547	D	0.999456	D	0.89917	1.0	D	0.85130	0.997	D	0.89968	0.4091	10	0.87932	D	0	.	16.0688	0.80909	0.0:0.8668:0.1332:0.0	.	3085	Q96JB1	DYH8_HUMAN	F	3290;3290;3085;3049	ENSP00000333363:S3290F;ENSP00000352312:S3085F;ENSP00000402294:S3049F	ENSP00000333363:S3290F	S	+	2	0	DNAH8	38989648	0.988000	0.35896	1.000000	0.80357	0.888000	0.51559	2.862000	0.48388	2.894000	0.99253	0.655000	0.94253	TCT		0.378	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927		20	53	0	0	0	0.005443	0	20	53		
DNAH8	1769	broad.mit.edu	37	6	38957823	38957823	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:38957823C>T	ENST00000359357.3	+	86	12692	c.12438C>T	c.(12436-12438)ttC>ttT	p.F4146F	DNAH8_ENST00000441566.1_Silent_p.F4110F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4146					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F4146F(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACCGTCATTCTGCTTTTATA	0.363																																						uc003ooe.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(12436-12438)TTC>TTT		dynein, axonemal, heavy polypeptide 8							159.0	150.0	153.0					6																	38957823		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38957823C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12438C>T	6.37:g.38957823C>T							p.F4146F	NM_001371	NP_001362					86	13038	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.12438C>T																																																																																					0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927		37	149	0	0	0	0.004289	0	37	149		
PTK7	5754	broad.mit.edu	37	6	43114421	43114421	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:43114421C>T	ENST00000230419.4	+	17	2927	c.2706C>T	c.(2704-2706)ctC>ctT	p.L902L	PTK7_ENST00000349241.2_Silent_p.L772L|PTK7_ENST00000345201.2_Silent_p.L862L|PTK7_ENST00000352931.2_Silent_p.L846L|PTK7_ENST00000481273.1_Silent_p.L910L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	902	Interaction with CTNNB1.|Protein kinase; inactive. {ECO:0000255|PROSITE-ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L902L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CACAGCCCCTCAGCACCAAGC	0.557																																						uc003oub.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|large_intestine(1)	3						c.(2704-2706)CTC>CTT		PTK7 protein tyrosine kinase 7 isoform a							74.0	72.0	72.0					6																	43114421		2203	4300	6503	SO:0001819	synonymous_variant	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43114421C>T	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2706C>T	6.37:g.43114421C>T						PTK7_uc003ouc.1_Silent_p.L846L|PTK7_uc003oud.1_Silent_p.L862L|PTK7_uc003oue.1_Silent_p.L772L|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.L910L|PTK7_uc010jyj.1_Silent_p.L228L	p.L902L	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		17	2904	+			902			Cytoplasmic (Potential).|Protein kinase; inactive.|Interaction with CTNNB1.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.2706C>T	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	9.135	1.012415	0.19277	.	.	ENSG00000112655	ENST00000489707	.	.	.	5.33	0.18	0.15068	.	.	.	.	.	T	0.26011	0.0634	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15780	-1.0425	4	.	.	.	.	2.9646	0.05903	0.221:0.3031:0.3469:0.129	.	.	.	.	L	197	.	.	S	+	2	0	PTK7	43222399	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	1.431000	0.34925	-0.200000	0.10300	-0.136000	0.14681	TCA		0.557	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2				14	71	0	0	0	0.003163	0	14	71		
SPATS1	221409	broad.mit.edu	37	6	44310891	44310891	+	Nonsense_Mutation	SNP	C	C	G	rs565777182		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:44310891C>G	ENST00000288390.2	+	1	406	c.59C>G	c.(58-60)tCa>tGa	p.S20*	RP11-444E17.6_ENST00000505802.1_Intron|SPATS1_ENST00000323108.8_Nonsense_Mutation_p.S20*			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	20								p.S20*(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCTCCATCTCAAGCACGACC	0.512																																						uc003oxk.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	skin(1)	1						c.(58-60)TCA>TGA		spermatogenesis associated, serine-rich 1							63.0	62.0	62.0					6																	44310891		2203	4300	6503	SO:0001587	stop_gained	221409							g.chr6:44310891C>G	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.59C>G	6.37:g.44310891C>G	ENSP00000424400:p.Ser20*					SPATS1_uc003oxg.2_Intron|SPATS1_uc010jzb.2_5'UTR	p.S20*	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		1	406	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		20					Q496A2|Q496A5|Q96LJ0	Nonsense_Mutation	SNP	ENST00000288390.2	37	c.59C>G	CCDS4911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.54|18.54	3.646125|3.646125	0.67358|0.67358	.|.	.|.	ENSG00000249481|ENSG00000249481	ENST00000515220|ENST00000323108;ENST00000288390	.|.	.|.	.|.	3.36|3.36	-0.728|-0.728	0.11162|0.11162	.|.	.|0.675999	.|0.11404	.|N	.|0.567531	T|.	0.05593|.	0.0147|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35201|.	-0.9798|.	3|.	.|0.19590	.|T	.|0.45	.|.	0.6607|0.6607	0.00842|0.00842	0.2062:0.3869:0.1734:0.2335|0.2062:0.3869:0.1734:0.2335	.|.	.|.	.|.	.|.	E|X	54|20	.|.	.|ENSP00000424400:S20X	Q|S	+|+	1|2	0|0	SPATS1|SPATS1	44418869|44418869	0.004000|0.004000	0.15560|0.15560	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.782000|0.782000	0.26788|0.26788	-0.164000|-0.164000	0.10927|0.10927	-0.150000|-0.150000	0.13652|0.13652	CAA|TCA		0.512	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2		NM_145026		16	72	0	0	0	0.003163	0	16	72		
PKHD1	5314	broad.mit.edu	37	6	51929769	51929769	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:51929769G>A	ENST00000371117.3	-	13	1235	c.960C>T	c.(958-960)ctC>ctT	p.L320L	PKHD1_ENST00000340994.4_Silent_p.L320L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	320	IPT/TIG 3.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.L320L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGGGGTGGTGAGCCTCACAT	0.448																																						uc003pah.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(958-960)CTC>CTT		fibrocystin isoform 1							93.0	92.0	93.0					6																	51929769		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51929769G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.960C>T	6.37:g.51929769G>A						PKHD1_uc003pai.2_Silent_p.L320L	p.L320L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			13	1236	-	Lung NSC(77;0.0605)		320			IPT/TIG 3.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.960C>T	CCDS4935.1																																																																																				0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694		27	112	0	0	0	0.00632	0	27	112		
RIMS1	22999	broad.mit.edu	37	6	72957721	72957721	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:72957721C>T	ENST00000521978.1	+	12	2132	c.2132C>T	c.(2131-2133)tCa>tTa	p.S711L	RIMS1_ENST00000517960.1_Missense_Mutation_p.S711L|RIMS1_ENST00000518273.1_Missense_Mutation_p.S711L|RIMS1_ENST00000491071.2_Missense_Mutation_p.S711L|RIMS1_ENST00000523963.1_Missense_Mutation_p.S185L|RIMS1_ENST00000522291.1_Missense_Mutation_p.S711L|RIMS1_ENST00000264839.7_Missense_Mutation_p.S711L|RIMS1_ENST00000520567.1_Missense_Mutation_p.S711L|RIMS1_ENST00000348717.5_Missense_Mutation_p.S711L|RIMS1_ENST00000425662.2_Missense_Mutation_p.S104L|RIMS1_ENST00000401910.3_Missense_Mutation_p.S185L|RIMS1_ENST00000517827.1_Missense_Mutation_p.S170L	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	711					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.S711L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATTTTAGGTTCAAGTTCCTTT	0.318																																						uc003pga.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(2131-2133)TCA>TTA		regulating synaptic membrane exocytosis 1							97.0	90.0	93.0					6																	72957721		1792	4065	5857	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72957721C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2132C>T	6.37:g.72957721C>T	ENSP00000428417:p.Ser711Leu					RIMS1_uc011dyb.1_Missense_Mutation_p.S337L|RIMS1_uc003pgc.2_Missense_Mutation_p.S337L|RIMS1_uc010kaq.2_Missense_Mutation_p.S185L|RIMS1_uc011dyc.1_Missense_Mutation_p.S185L|RIMS1_uc010kar.2_Missense_Mutation_p.S104L|RIMS1_uc011dyd.1_Missense_Mutation_p.S170L|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.S337L|RIMS1_uc010kas.1_Missense_Mutation_p.S170L	p.S711L	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			12	2209	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	711					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.2132C>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269583	0.95429	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827	T;T;T;T;T;T;T;T;T;T;T;T;T	0.18657	2.2;2.37;2.28;2.37;2.34;2.33;2.36;2.25;2.37;2.33;2.37;2.3;2.38	5.68	5.68	0.88126	.	0.000000	0.56097	D	0.000034	T	0.30448	0.0765	L	0.34521	1.04	0.80722	D	1	B;D;P;P;D;P;P	0.61080	0.243;0.981;0.883;0.881;0.989;0.93;0.786	B;D;P;B;P;P;B	0.69824	0.074;0.966;0.698;0.345;0.844;0.713;0.22	T	0.04017	-1.0984	10	0.87932	D	0	-13.4058	20.1615	0.98135	0.0:1.0:0.0:0.0	.	170;185;711;170;185;711;711	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5	.;.;.;.;.;.;RIMS1_HUMAN	L	711;711;711;711;711;711;711;711;711;711;711;711;185;185;104;104;170	ENSP00000430101:S711L;ENSP00000275037:S711L;ENSP00000264839:S711L;ENSP00000429959:S711L;ENSP00000430408:S711L;ENSP00000430502:S711L;ENSP00000430932:S711L;ENSP00000428417:S711L;ENSP00000385649:S185L;ENSP00000428328:S185L;ENSP00000411235:S104L;ENSP00000389503:S104L;ENSP00000428367:S170L	ENSP00000264839:S711L	S	+	2	0	RIMS1	73014442	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.835000	0.97688	0.650000	0.86243	TCA		0.318	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1				23	93	0	0	0	0.014323	0	23	93		
KCNQ5	56479	broad.mit.edu	37	6	73900420	73900420	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:73900420C>G	ENST00000370398.1	+	12	1811	c.1702C>G	c.(1702-1704)Caa>Gaa	p.Q568E	KCNQ5_ENST00000355635.3_Missense_Mutation_p.Q569E|KCNQ5_ENST00000403813.2_Missense_Mutation_p.Q559E|KCNQ5_ENST00000414165.2_Missense_Mutation_p.Q458E|KCNQ5_ENST00000402622.2_Missense_Mutation_p.Q578E|KCNQ5_ENST00000355194.4_Missense_Mutation_p.Q568E|KCNQ5_ENST00000342056.2_Missense_Mutation_p.Q587E	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	568					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.Q568E(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TAAAAGCCTTCAAACACGGTA	0.373																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(1702-1704)CAA>GAA		potassium voltage-gated channel, KQT-like							100.0	87.0	91.0					6																	73900420		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73900420C>G	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1702C>G	6.37:g.73900420C>G	ENSP00000359425:p.Gln568Glu					KCNQ5_uc011dyh.1_Missense_Mutation_p.Q587E|KCNQ5_uc011dyi.1_Missense_Mutation_p.Q578E|KCNQ5_uc010kat.2_Missense_Mutation_p.Q559E|KCNQ5_uc011dyj.1_Missense_Mutation_p.Q458E|KCNQ5_uc011dyk.1_Missense_Mutation_p.Q318E	p.Q568E	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	12	2049	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	568					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1702C>G	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711115	0.89112	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99730	-6.56;-6.56;-6.56;-6.56;-6.56;-6.56;-6.56	5.04	5.04	0.67666	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.188606	0.47093	D	0.000250	D	0.99736	0.9896	M	0.86651	2.83	0.38872	D	0.956711	D;D;D;D;D	0.89917	0.984;0.998;0.999;1.0;0.999	P;D;D;D;D	0.80764	0.886;0.979;0.988;0.994;0.988	D	0.97657	1.0158	10	0.66056	D	0.02	.	18.3823	0.90454	0.0:1.0:0.0:0.0	.	458;578;587;559;568	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	E	587;587;568;568;578;569;559;458	ENSP00000345055:Q587E;ENSP00000347326:Q568E;ENSP00000359425:Q568E;ENSP00000385501:Q578E;ENSP00000347853:Q569E;ENSP00000384453:Q559E;ENSP00000409861:Q458E	ENSP00000345055:Q587E	Q	+	1	0	KCNQ5	73957141	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.814000	0.86154	2.310000	0.77875	0.655000	0.94253	CAA		0.373	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3		NM_019842		23	82	0	0	0	0.00632	0	23	82		
CD109	135228	broad.mit.edu	37	6	74533302	74533302	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:74533302C>T	ENST00000287097.5	+	33	4395	c.4283C>T	c.(4282-4284)tCa>tTa	p.S1428L	CD109_ENST00000437994.2_Missense_Mutation_p.S1411L|CD109_ENST00000422508.2_Missense_Mutation_p.S1351L			Q6YHK3	CD109_HUMAN	CD109 molecule	1428					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.S1428L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCACTCTTCAGTCATTTTT	0.428																																						uc003php.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|ovary(2)	4						c.(4282-4284)TCA>TTA		CD109 antigen isoform 1 precursor							153.0	150.0	151.0					6																	74533302		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74533302C>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.4283C>T	6.37:g.74533302C>T	ENSP00000287097:p.Ser1428Leu					CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.S1411L|CD109_uc010kba.2_Missense_Mutation_p.S1351L	p.S1428L	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			33	4708	+			1428					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.4283C>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419325	0.25552	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.23950	1.88;2.08;1.88	4.49	0.387	0.16259	.	1.533330	0.03896	N	0.279545	T	0.06735	0.0172	L	0.27053	0.805	0.09310	N	1	B;B;B	0.23249	0.002;0.082;0.049	B;B;B	0.25140	0.003;0.058;0.026	T	0.37244	-0.9714	10	0.56958	D	0.05	.	4.532	0.12010	0.1488:0.4838:0.2877:0.0797	.	1351;1411;1428	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	L	1411;1351;1428	ENSP00000388062:S1411L;ENSP00000404475:S1351L;ENSP00000287097:S1428L	ENSP00000287097:S1428L	S	+	2	0	CD109	74590022	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.344000	0.19962	-0.041000	0.13558	0.467000	0.42956	TCA		0.428	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3		NM_133493		31	123	0	0	0	0.008361	0	31	123		
CNR1	1268	broad.mit.edu	37	6	88854856	88854856	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:88854856C>G	ENST00000537554.1	-	2	3700	c.138G>C	c.(136-138)caG>caC	p.Q46H	CNR1_ENST00000549890.1_Missense_Mutation_p.Q46H|CNR1_ENST00000428600.2_Missense_Mutation_p.Q46H|CNR1_ENST00000468898.1_Intron|CNR1_ENST00000535130.1_Missense_Mutation_p.Q46H|CNR1_ENST00000369501.2_Missense_Mutation_p.Q46H|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000369499.2_Missense_Mutation_p.Q46H|CNR1_ENST00000549716.1_Intron	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	46					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.Q46H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AAGGGAATTTCTGTGGGAAGT	0.498																																						uc011dzq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(136-138)CAG>CAC		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						103.0	99.0	101.0					6																	88854856		2203	4300	6503	SO:0001583	missense	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854856C>G	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.138G>C	6.37:g.88854856C>G	ENSP00000441046:p.Gln46His					CNR1_uc010kbz.2_Missense_Mutation_p.Q46H|CNR1_uc011dzr.1_Missense_Mutation_p.Q46H|CNR1_uc011dzs.1_Missense_Mutation_p.Q46H|CNR1_uc003pmq.3_Missense_Mutation_p.Q46H|CNR1_uc011dzt.1_Missense_Mutation_p.Q46H|CNR1_uc010kca.2_Intron	p.Q46H	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	3701	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	46			Extracellular (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.138G>C	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	C	5.545	0.285398	0.10513	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000428600;ENST00000551417	T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.77	4.91	0.64330	.	0.373059	0.31370	N	0.007769	T	0.50684	0.1630	L	0.47716	1.5	0.80722	D	1	B	0.32653	0.379	B	0.23716	0.048	T	0.58901	-0.7554	10	0.52906	T	0.07	.	10.8636	0.46842	0.0:0.8563:0.0:0.1437	.	46	P21554	CNR1_HUMAN	H	46	ENSP00000358513:Q46H;ENSP00000442689:Q46H;ENSP00000441046:Q46H;ENSP00000358511:Q46H;ENSP00000446819:Q46H;ENSP00000412192:Q46H	ENSP00000358511:Q46H	Q	-	3	2	CNR1	88911575	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	1.971000	0.40530	1.441000	0.47550	0.563000	0.77884	CAG		0.498	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2				37	94	0	0	0	0.003271	0	37	94		
CASP8AP2	9994	broad.mit.edu	37	6	90576217	90576217	+	RNA	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:90576217G>C	ENST00000551025.1	+	0	4645									caspase 8 associated protein 2									p.E1070Q(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CAGAATTATTGAGTCAGCAAT	0.274																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(3208-3210)GAG>CAG		caspase 8 associated protein 2							27.0	24.0	25.0					6																	90576217		1788	4052	5840			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90576217G>C	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90576217G>C						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E1070Q|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E1070Q	p.E1070Q	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	8	3404	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	1070						Missense_Mutation	SNP	ENST00000551025.1	37	c.3208G>C																																																																																					0.274	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript			NM_001137667		2	5	0	0	0	0.004672	0	2	5		
FRK	2444	broad.mit.edu	37	6	116264315	116264315	+	Missense_Mutation	SNP	C	C	T	rs185354663	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:116264315C>T	ENST00000606080.1	-	7	1620	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	FRK_ENST00000538210.1_Missense_Mutation_p.E250K	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	392	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.E392K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AGCTTTATTTCGTGTCTAGAT	0.378													C|||	6	0.00119808	0.0038	0.0	5008	,	,		17402	0.0		0.0	False		,,,				2504	0.001					uc003pwi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(3)	6						c.(1174-1176)GAA>AAA		fyn-related kinase		C	LYS/GLU	10,4394	15.5+/-35.6	0,10,2192	55.0	58.0	57.0		1174	4.7	0.8	6		57	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FRK	NM_002031.2	56	0,12,6490	TT,TC,CC		0.0233,0.2271,0.0923	benign	392/506	116264315	12,12992	2202	4300	6502	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116264315C>T	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1174G>A	6.37:g.116264315C>T	ENSP00000476145:p.Glu392Lys						p.E392K	NM_002031	NP_002022	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	7	1621	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	392			Protein kinase.		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.1174G>A	CCDS5103.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.81	3.480198	0.63849	0.002271	2.33E-4	ENSG00000111816	ENST00000368626;ENST00000538210	D;D	0.82433	-1.61;-1.61	5.62	4.73	0.59995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.374461	0.24933	N	0.034459	T	0.62974	0.2472	L	0.28344	0.845	0.49798	D	0.999829	P	0.38455	0.632	B	0.31245	0.126	T	0.71140	-0.4679	10	0.87932	D	0	.	16.3592	0.83251	0.0:0.8678:0.1322:0.0	.	392	P42685	FRK_HUMAN	K	392;250	ENSP00000357615:E392K;ENSP00000443075:E250K	ENSP00000357615:E392K	E	-	1	0	FRK	116371008	1.000000	0.71417	0.835000	0.33067	0.986000	0.74619	6.082000	0.71318	1.337000	0.45525	0.591000	0.81541	GAA		0.378	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2		NM_002031		18	52	0	0	0	0.012319	0	18	52		
ROS1	6098	broad.mit.edu	37	6	117718277	117718277	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:117718277G>A	ENST00000368508.3	-	7	778	c.580C>T	c.(580-582)Cct>Tct	p.P194S	ROS1_ENST00000368507.3_Missense_Mutation_p.P203S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	194	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P194S(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCAGTTTCAGGAACTGGAAGA	0.388			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NaN		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		urinary_tract(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(580-582)CCT>TCT		proto-oncogene c-ros-1 protein precursor							72.0	72.0	72.0					6																	117718277		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117718277G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.580C>T	6.37:g.117718277G>A	ENSP00000357494:p.Pro194Ser					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.P194S	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	7	779	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	194			Fibronectin type-III 2.|Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.580C>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264405	0.59431	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.63255	-0.03;-0.03	5.54	4.65	0.58169	.	0.000000	0.64402	D	0.000003	T	0.62612	0.2442	M	0.87547	2.89	0.80722	D	1	P	0.48503	0.911	B	0.43838	0.433	T	0.73078	-0.4096	10	0.87932	D	0	.	14.4082	0.67096	0.075:0.0:0.925:0.0	.	194	P08922	ROS1_HUMAN	S	194;203	ENSP00000357494:P194S;ENSP00000357493:P203S	ENSP00000357493:P203S	P	-	1	0	ROS1	117824970	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	5.424000	0.66464	2.762000	0.94881	0.650000	0.86243	CCT		0.388	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1				22	86	0	0	0	0.010504	0	22	86		
SMPDL3A	10924	broad.mit.edu	37	6	123127407	123127407	+	Missense_Mutation	SNP	C	C	G	rs143627205		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:123127407C>G	ENST00000368440.4	+	7	1126	c.949C>G	c.(949-951)Cct>Gct	p.P317A	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.P186A	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	317					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.P317A(1)		breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		GTTTGTGGCTCCTGCTGTTAC	0.313																																						uc003pzg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(949-951)CCT>GCT		acid sphingomyelinase-like phosphodiesterase 3A							109.0	109.0	109.0					6																	123127407		2203	4300	6503	SO:0001583	missense	10924				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	g.chr6:123127407C>G	AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.949C>G	6.37:g.123127407C>G	ENSP00000357425:p.Pro317Ala					SMPDL3A_uc003pzh.2_Missense_Mutation_p.P186A	p.P317A	NM_006714	NP_006705	Q92484	ASM3A_HUMAN		GBM - Glioblastoma multiforme(226;0.236)	7	1470	+			317					B7Z729|Q8WV13	Missense_Mutation	SNP	ENST00000368440.4	37	c.949C>G	CCDS5128.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273022	0.80580	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.99764	-6.68;-6.68	5.76	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97580	1.0110	10	0.48119	T	0.1	-12.474	14.6379	0.68702	0.0:0.9294:0.0:0.0706	.	317	Q92484	ASM3A_HUMAN	A	317;186	ENSP00000357425:P317A;ENSP00000442152:P186A	ENSP00000357425:P317A	P	+	1	0	SMPDL3A	123169106	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	1.576000	0.49790	0.655000	0.94253	CCT		0.313	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1		NM_006714		12	42	0	0	0	0.00499	0	12	42		
TRMT11	60487	broad.mit.edu	37	6	126320719	126320719	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:126320719G>A	ENST00000334379.5	+	7	760	c.639G>A	c.(637-639)gtG>gtA	p.V213V	TRMT11_ENST00000368332.3_Silent_p.V213V|TRMT11_ENST00000450358.1_Silent_p.V213V	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	213					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)	p.V213V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ATGGAAAAGTGAAAGAAAATG	0.313																																						uc003qam.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(637-639)GTG>GTA		tRNA methyltransferase 11							124.0	113.0	117.0					6																	126320719		2203	4298	6501	SO:0001819	synonymous_variant	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126320719G>A	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.639G>A	6.37:g.126320719G>A						TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Silent_p.V213V	p.V213V	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	7	760	+			213					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Silent	SNP	ENST00000334379.5	37	c.639G>A	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	G	9.256	1.042028	0.19748	.	.	ENSG00000066651	ENST00000453993	.	.	.	5.4	4.53	0.55603	.	.	.	.	.	T	0.46249	0.1383	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47560	-0.9108	4	.	.	.	-13.3954	8.7758	0.34760	0.2173:0.0:0.7827:0.0	.	.	.	.	K	12	.	.	E	+	1	0	TRMT11	126362412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.734000	0.26101	1.267000	0.44247	0.650000	0.86243	GAA		0.313	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_021820		26	81	0	0	0	0.00333	0	26	81		
TCF21	6943	broad.mit.edu	37	6	134210742	134210742	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:134210742G>A	ENST00000367882.4	+	1	467	c.207G>A	c.(205-207)ctG>ctA	p.L69L	RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|TCF21_ENST00000237316.3_Silent_p.L69L	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	69					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L69L(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		AGAGCCCCCTGAGCGGGGTCA	0.682																																						uc003qei.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(205-207)CTG>CTA		transcription factor 21							26.0	35.0	32.0					6																	134210742		2203	4300	6503	SO:0001819	synonymous_variant	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134210742G>A	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.207G>A	6.37:g.134210742G>A						uc003qeg.1_5'Flank|TCF21_uc003qej.2_Silent_p.L69L	p.L69L	NM_003206	NP_003197	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	1	483	+	Colorectal(23;0.221)|Breast(56;0.247)		69					E1P581|O43545|Q6ICV0|Q9BZ14	Silent	SNP	ENST00000367882.4	37	c.207G>A	CCDS5167.1																																																																																				0.682	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1		NM_198392		5	63	0	0	0	0.000602	0	5	63		
SYNE1	23345	broad.mit.edu	37	6	152461256	152461256	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:152461256C>G	ENST00000367255.5	-	140	25888	c.25287G>C	c.(25285-25287)ttG>ttC	p.L8429F	SYNE1_ENST00000356820.4_Missense_Mutation_p.L2953F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L8429F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L8381F|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.L584F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L8381F|SYNE1_ENST00000354674.4_Missense_Mutation_p.L607F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L8041F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8429					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L8429F(2)|p.L8381F(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTCCTTGCTCAATGCCTGGG	0.502										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(25285-25287)TTG>TTC		spectrin repeat containing, nuclear envelope 1							135.0	113.0	121.0					6																	152461256		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152461256C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25287G>C	6.37:g.152461256C>G	ENSP00000356224:p.Leu8429Phe	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.L2953F|SYNE1_uc003qos.3_Missense_Mutation_p.L2953F|SYNE1_uc003qot.3_Missense_Mutation_p.L8381F|SYNE1_uc003qou.3_Missense_Mutation_p.L8429F|SYNE1_uc003qop.3_Missense_Mutation_p.L614F|SYNE1_uc011eez.1_Missense_Mutation_p.L631F|SYNE1_uc003qoq.3_Missense_Mutation_p.L631F|SYNE1_uc003qor.3_Missense_Mutation_p.L1352F	p.L8429F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	140	25889	-		Ovarian(120;0.0955)	8429			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25287G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397605	0.42512	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.57273	0.51;4.58;1.4;0.52;0.41;0.52;0.62;2.5;1.57;4.59	5.92	1.87	0.25490	.	0.323205	0.22156	N	0.063844	T	0.48277	0.1491	M	0.83603	2.65	0.45607	D	0.998547	P;P;P;P;P	0.52463	0.922;0.922;0.953;0.922;0.726	P;P;P;P;P	0.56823	0.646;0.646;0.807;0.646;0.495	T	0.49844	-0.8896	10	0.36615	T	0.2	.	2.05	0.03568	0.3361:0.384:0.1104:0.1695	.	8429;8429;8381;8381;631	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	F	8429;584;1075;8381;8429;8381;8041;2953;614;609;1374;607	ENSP00000356224:L8429F;ENSP00000441052:L584F;ENSP00000356226:L1075F;ENSP00000396024:L8381F;ENSP00000265368:L8429F;ENSP00000390975:L8381F;ENSP00000341887:L8041F;ENSP00000349276:L2953F;ENSP00000356220:L1374F;ENSP00000346701:L607F	ENSP00000265368:L8429F	L	-	3	2	SYNE1	152502949	0.950000	0.32346	0.978000	0.43139	0.368000	0.29767	0.010000	0.13242	0.374000	0.24650	0.561000	0.74099	TTG		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		33	125	0	0	0	0.003755	0	33	125		
TULP4	56995	broad.mit.edu	37	6	158834155	158834155	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:158834155G>A	ENST00000367097.3	+	2	1668	c.311G>A	c.(310-312)gGa>gAa	p.G104E	TULP4_ENST00000367094.2_Missense_Mutation_p.G104E	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	104					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G104E(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GATGCGGACGGAGGCATATTC	0.562																																						uc003qrf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(310-312)GGA>GAA		tubby like protein 4 isoform 1							144.0	123.0	130.0					6																	158834155		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158834155G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.311G>A	6.37:g.158834155G>A	ENSP00000356064:p.Gly104Glu					TULP4_uc011efo.1_Missense_Mutation_p.G104E|TULP4_uc003qrg.2_Missense_Mutation_p.G104E	p.G104E	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	2	1668	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	104			WD 1.		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.311G>A	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966216	0.92855	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.66280	-0.2;-0.2	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78629	0.4313	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.79227	-0.1890	10	0.87932	D	0	-17.1048	20.1358	0.98028	0.0:0.0:1.0:0.0	.	104;104;104	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	E	104	ENSP00000356064:G104E;ENSP00000356061:G104E	ENSP00000356061:G104E	G	+	2	0	TULP4	158754143	1.000000	0.71417	0.567000	0.28434	0.628000	0.37860	9.431000	0.97494	2.865000	0.98341	0.655000	0.94253	GGA		0.562	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1		NM_020245		14	33	0	0	0	0.003163	0	14	33		
T	6862	broad.mit.edu	37	6	166571975	166571975	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:166571975G>C	ENST00000296946.2	-	9	1604	c.1136C>G	c.(1135-1137)tCc>tGc	p.S379C	T_ENST00000366871.3_Missense_Mutation_p.S321C	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	379					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S379C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GTGCGCGGGGGAGCCCCGGAA	0.706									Chordoma, Familial Clustering of																													uc003quu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(1135-1137)TCC>TGC		transcription factor T							27.0	34.0	32.0					6																	166571975		2202	4298	6500	SO:0001583	missense	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166571975G>C	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1136C>G	6.37:g.166571975G>C	ENSP00000296946:p.Ser379Cys					T_uc003qut.1_Missense_Mutation_p.S380C|T_uc003quv.1_Missense_Mutation_p.S321C	p.S379C	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1629	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	379					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.1136C>G	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	9.789	1.177510	0.21787	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.84146	-1.81;-1.81	4.92	4.92	0.64577	.	0.211909	0.40469	N	0.001085	T	0.76040	0.3932	L	0.58669	1.825	0.25510	N	0.987464	B;B;B	0.20550	0.046;0.022;0.021	B;B;B	0.21151	0.033;0.021;0.016	T	0.69187	-0.5211	10	0.46703	T	0.11	.	17.474	0.87655	0.0:0.0:1.0:0.0	.	321;379;321	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	C	379;379;321	ENSP00000296946:S379C;ENSP00000355836:S321C	ENSP00000296946:S379C	S	-	2	0	T	166491965	1.000000	0.71417	0.001000	0.08648	0.034000	0.12701	6.749000	0.74883	2.406000	0.81754	0.655000	0.94253	TCC		0.706	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2		NM_003181		13	55	0	0	0	0.00499	0	13	55		
MLLT4	4301	broad.mit.edu	37	6	168344641	168344641	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:168344641G>C	ENST00000447894.2	+	25	3239	c.3239G>C	c.(3238-3240)aGa>aCa	p.R1080T	MLLT4_ENST00000400822.3_Missense_Mutation_p.R1079T|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1080T|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000392108.3_Missense_Mutation_p.R1080T|MLLT4_ENST00000366806.2_Missense_Mutation_p.R1080T|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1063T|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1087T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1080	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.R1080T(1)|p.R1064T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTCATGACAAGAACAAGCTCT	0.488			T	MLL	AL																																	uc003qwd.2		NaN		Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(3235-3237)AGA>ACA		myeloid/lymphoid or mixed-lineage leukemia							117.0	102.0	107.0					6																	168344641		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168344641G>C	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3239G>C	6.37:g.168344641G>C	ENSP00000404595:p.Arg1080Thr					MLLT4_uc003qwb.1_Missense_Mutation_p.R1064T|MLLT4_uc003qwc.1_Missense_Mutation_p.R1080T|MLLT4_uc003qwg.1_Missense_Mutation_p.R389T	p.R1079T	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	25	3378	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1080			PDZ.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.3236G>C		.	.	.	.	.	.	.	.	.	.	G	22.8	4.337493	0.81911	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69	4.92	4.92	0.64577	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.37404	0.1002	L	0.47190	1.495	0.58432	D	0.999999	D;D;D;D	0.89917	0.996;1.0;0.983;0.994	D;D;D;D	0.85130	0.977;0.997;0.921;0.925	T	0.19418	-1.0306	10	0.56958	D	0.05	-0.2472	18.1404	0.89637	0.0:0.0:1.0:0.0	.	1080;1079;1080;1064	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	T	1080;1087;1080;1080;1063;1080;1079;1080	ENSP00000341118:R1080T;ENSP00000252692:R1087T;ENSP00000375956:R1080T;ENSP00000355771:R1080T;ENSP00000375960:R1063T;ENSP00000383623:R1079T;ENSP00000404595:R1080T	ENSP00000345834:R1080T	R	+	2	0	MLLT4	168087490	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.441000	0.80485	2.257000	0.74773	0.650000	0.86243	AGA		0.488	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1		NM_005936		27	66	0	0	0	0.004656	0	27	66		
LFNG	3955	broad.mit.edu	37	7	2565989	2565989	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:2565989C>G	ENST00000222725.5	+	6	953	c.933C>G	c.(931-933)ttC>ttG	p.F311L	LFNG_ENST00000402045.1_Missense_Mutation_p.F182L|LFNG_ENST00000338732.3_Missense_Mutation_p.F182L|MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000359574.3_Missense_Mutation_p.F311L|LFNG_ENST00000402506.1_Missense_Mutation_p.F240L	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	311					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)	p.F311L(1)|p.F240L(1)|p.F182L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GCGGCCTCTTCCACTCCCACC	0.657																																						uc003smf.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)		0						c.(931-933)TTC>TTG		lunatic fringe isoform a							57.0	63.0	61.0					7																	2565989		2203	4300	6503	SO:0001583	missense	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2565989C>G	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.933C>G	7.37:g.2565989C>G	ENSP00000222725:p.Phe311Leu					LFNG_uc003smg.2_Missense_Mutation_p.F311L	p.F311L	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	6	950	+		Ovarian(82;0.0112)	311			Lumenal (Potential).		B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	ENST00000222725.5	37	c.933C>G	CCDS34587.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968809	0.74131	.	.	ENSG00000106003	ENST00000402506;ENST00000402045;ENST00000338732;ENST00000222725;ENST00000359574	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	4.7	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	M	0.81179	2.53	0.80722	D	1	P;P	0.46784	0.748;0.884	B;P	0.55011	0.436;0.766	T	0.74544	-0.3630	10	0.51188	T	0.08	-36.2249	7.9856	0.30210	0.0:0.7502:0.0:0.2498	.	311;311	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	L	240;182;182;311;311	ENSP00000385764:F240L;ENSP00000384786:F182L;ENSP00000343095:F182L;ENSP00000222725:F311L;ENSP00000352579:F311L	ENSP00000222725:F311L	F	+	3	2	LFNG	2532515	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.397000	0.44477	0.955000	0.37878	0.561000	0.74099	TTC		0.657	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1		NM_002304		34	96	0	0	0	0.010818	0	34	96		
AP5Z1	9907	broad.mit.edu	37	7	4830468	4830468	+	Silent	SNP	G	G	C	rs369716428		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:4830468G>C	ENST00000348624.4	+	16	2197	c.2103G>C	c.(2101-2103)ctG>ctC	p.L701L	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000490487.1_3'UTR	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	701					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L545L(1)|p.L1412L(1)									TCACCGTGCTGATGACCACGC	0.647																																						uc003sne.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	central_nervous_system(1)	1						c.(2101-2103)CTG>CTC		hypothetical protein LOC9907							28.0	31.0	30.0					7																	4830468		2056	4179	6235	SO:0001819	synonymous_variant	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4830468G>C	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.2103G>C	7.37:g.4830468G>C						KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Silent_p.L178L	p.L701L	NM_014855	NP_055670	O43299	K0415_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)	16	2186	+		Ovarian(82;0.0175)	701					Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	c.2103G>C	CCDS47528.1																																																																																				0.647	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1				2	12	0	0	0	0.004672	0	2	12		
USP42	84132	broad.mit.edu	37	7	6180583	6180583	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:6180583G>C	ENST00000306177.5	+	7	921	c.763G>C	c.(763-765)Gat>Cat	p.D255H		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	255	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.D383H(1)|p.D255H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AGATACTTTTGATCCATATCT	0.264																																						uc011jwo.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(2)|ovary(1)|pancreas(1)|breast(1)	5						c.(763-765)GAT>CAT		ubiquitin specific peptidase 42							60.0	61.0	61.0					7																	6180583		1785	4030	5815	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6180583G>C	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.763G>C	7.37:g.6180583G>C	ENSP00000301962:p.Asp255His					USP42_uc011jwn.1_Missense_Mutation_p.D100H|USP42_uc010kth.1_Missense_Mutation_p.D188H|USP42_uc011jwp.1_Missense_Mutation_p.D255H|USP42_uc011jwq.1_Missense_Mutation_p.D62H|USP42_uc011jwr.1_Missense_Mutation_p.D100H	p.D255H	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	7	886	+		Ovarian(82;0.0423)	255					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.763G>C	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580741	0.65992	.	.	ENSG00000106346	ENST00000306177;ENST00000465073;ENST00000426246	T;T;T	0.03441	3.93;3.93;3.93	5.85	5.85	0.93711	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.082645	0.51477	D	0.000083	T	0.25901	0.0631	M	0.89478	3.035	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.996;0.997;0.998	T	0.01440	-1.1354	10	0.87932	D	0	.	20.1634	0.98142	0.0:0.0:1.0:0.0	.	218;255;255;255	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	H	255;188;101	ENSP00000301962:D255H;ENSP00000430568:D188H;ENSP00000408217:D101H	ENSP00000301962:D255H	D	+	1	0	USP42	6147109	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	9.281000	0.95811	2.773000	0.95371	0.655000	0.94253	GAT		0.264	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3		XM_166526		9	48	0	0	0	0.004482	0	9	48		
COL28A1	340267	broad.mit.edu	37	7	7413118	7413118	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:7413118C>G	ENST00000399429.3	-	32	2559	c.2419G>C	c.(2419-2421)Gaa>Caa	p.E807Q		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	807	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E807Q(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCCACGCTTTCTGAGCTGTCG	0.463																																						uc003src.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)	3						c.(2419-2421)GAA>CAA		collagen, type XXVIII precursor							87.0	88.0	87.0					7																	7413118		1862	4098	5960	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7413118C>G	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2419G>C	7.37:g.7413118C>G	ENSP00000382356:p.Glu807Gln					COL28A1_uc011jxe.1_Missense_Mutation_p.E490Q	p.E807Q	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	32	2536	-		Ovarian(82;0.0789)	807			VWFA 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.2419G>C	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603668	0.87157	.	.	ENSG00000215018	ENST00000399429	D	0.93547	-3.24	4.44	4.44	0.53790	von Willebrand factor, type A (3);	0.174481	0.33980	U	0.004372	D	0.96929	0.8997	M	0.86420	2.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.96566	0.9419	10	0.40728	T	0.16	-20.3381	17.6535	0.88171	0.0:1.0:0.0:0.0	.	807	Q2UY09	COSA1_HUMAN	Q	807	ENSP00000382356:E807Q	ENSP00000382356:E807Q	E	-	1	0	COL28A1	7379643	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.705000	0.61838	2.461000	0.83175	0.655000	0.94253	GAA		0.463	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1		NM_001037763		41	134	0	0	0	0.006999	0	41	134		
FAM188B	84182	broad.mit.edu	37	7	30876370	30876370	+	Missense_Mutation	SNP	C	C	T	rs201335083		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:30876370C>T	ENST00000265299.6	+	7	1306	c.1229C>T	c.(1228-1230)tCa>tTa	p.S410L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	410								p.S410L(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATTGACCTCTCAGTAGCAAAG	0.463																																						uc003tbt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1228-1230)TCA>TTA		hypothetical protein LOC84182							174.0	171.0	172.0					7																	30876370		2057	4205	6262	SO:0001583	missense	84182							g.chr7:30876370C>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1229C>T	7.37:g.30876370C>T	ENSP00000265299:p.Ser410Leu					FAM188B_uc010kwe.2_Missense_Mutation_p.S381L	p.S410L	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			7	1306	+			410					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.1229C>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830281	0.32329	.	.	ENSG00000106125	ENST00000265299	T	0.10960	2.82	4.67	3.79	0.43588	.	0.332441	0.28895	N	0.013785	T	0.11793	0.0287	L	0.54323	1.7	0.33329	D	0.568339	P	0.45986	0.87	B	0.39339	0.297	T	0.20840	-1.0263	10	0.87932	D	0	-3.6897	11.0426	0.47840	0.0:0.909:0.0:0.091	.	410	Q4G0A6	F188B_HUMAN	L	410	ENSP00000265299:S410L	ENSP00000265299:S410L	S	+	2	0	FAM188B	30842895	0.177000	0.23109	0.883000	0.34634	0.399000	0.30720	0.572000	0.23684	1.340000	0.45581	-0.157000	0.13467	TCA		0.463	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1		NM_032222		29	128	0	0	0	0.007291	0	29	128		
POLD2	5425	broad.mit.edu	37	7	44157622	44157622	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:44157622C>T	ENST00000406581.2	-	4	911	c.262G>A	c.(262-264)Gag>Aag	p.E88K	POLD2_ENST00000223361.3_Missense_Mutation_p.E88K|POLD2_ENST00000452185.1_Missense_Mutation_p.E88K	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	88					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.E88K(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CACTTCTCCTCAGGCTGCAGT	0.622																																						uc010kxz.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(262-264)GAG>AAG		DNA-directed DNA polymerase delta 2							137.0	108.0	118.0					7																	44157622		2203	4300	6503	SO:0001583	missense	5425				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	g.chr7:44157622C>T		CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.262G>A	7.37:g.44157622C>T	ENSP00000386105:p.Glu88Lys					POLD2_uc003tke.3_Missense_Mutation_p.E88K|POLD2_uc010kya.2_Missense_Mutation_p.E88K|POLD2_uc003tkf.3_Missense_Mutation_p.E88K	p.E88K	NM_006230	NP_006221	P49005	DPOD2_HUMAN			4	912	-			88					A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	37	c.262G>A	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804442	0.70682	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185;ENST00000433715;ENST00000456038;ENST00000418438	T;T;T	0.42131	0.98;0.99;0.98	5.03	5.03	0.67393	.	0.231906	0.43579	D	0.000554	T	0.39784	0.1091	L	0.45352	1.415	0.41283	D	0.986928	B;B	0.12630	0.006;0.005	B;B	0.10450	0.003;0.005	T	0.24977	-1.0145	10	0.51188	T	0.08	-2.254	17.9654	0.89099	0.0:1.0:0.0:0.0	.	88;88	P49005;F8W8R3	DPOD2_HUMAN;.	K	88	ENSP00000386105:E88K;ENSP00000223361:E88K;ENSP00000395231:E88K	ENSP00000223361:E88K	E	-	1	0	POLD2	44124147	0.712000	0.27916	0.026000	0.17262	0.975000	0.68041	5.890000	0.69774	2.317000	0.78254	0.563000	0.77884	GAG		0.622	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2		NM_001127218		25	93	0	0	0	0.003954	0	25	93		
OGDH	4967	broad.mit.edu	37	7	44747299	44747299	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:44747299G>C	ENST00000222673.5	+	22	2957	c.2915G>C	c.(2914-2916)aGa>aCa	p.R972T	OGDH_ENST00000543843.1_Missense_Mutation_p.R923T|OGDH_ENST00000447398.1_Missense_Mutation_p.R983T|OGDH_ENST00000449767.1_Missense_Mutation_p.R968T|OGDH_ENST00000439616.2_Missense_Mutation_p.R822T|OGDH_ENST00000444676.1_Missense_Mutation_p.R987T	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	972					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R972T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GTGAAGCCAAGACTTCGGACC	0.602																																						uc003tln.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2914-2916)AGA>ACA		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						102.0	83.0	89.0					7																	44747299		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44747299G>C	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2915G>C	7.37:g.44747299G>C	ENSP00000222673:p.Arg972Thr					OGDH_uc011kbx.1_Missense_Mutation_p.R968T|OGDH_uc011kby.1_Missense_Mutation_p.R822T|OGDH_uc003tlp.2_Missense_Mutation_p.R983T|OGDH_uc011kbz.1_Missense_Mutation_p.R767T	p.R972T	NM_002541	NP_002532	Q02218	ODO1_HUMAN			22	3024	+			972					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2915G>C	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118909	0.94385	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81;2.81	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.41442	0.1159	M	0.86805	2.84	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0	T	0.44251	-0.9340	10	0.72032	D	0.01	-27.2655	18.9009	0.92442	0.0:0.0:1.0:0.0	.	767;822;968;983;972	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	T	822;968;983;987;972;923	ENSP00000398576:R822T;ENSP00000392878:R968T;ENSP00000388183:R983T;ENSP00000414662:R987T;ENSP00000222673:R972T;ENSP00000443821:R923T	ENSP00000222673:R972T	R	+	2	0	OGDH	44713824	1.000000	0.71417	0.449000	0.26957	0.991000	0.79684	9.824000	0.99380	2.560000	0.86352	0.491000	0.48974	AGA		0.602	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1				23	90	0	0	0	0.012319	0	23	90		
ZNF727	442319	broad.mit.edu	37	7	63538522	63538522	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:63538522G>C	ENST00000550760.3	+	4	1274	c.1095G>C	c.(1093-1095)ttG>ttC	p.L365F	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	365					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.L365F(1)		endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						ATATGGAATTGAGACCTTACA	0.393																																						uc011kdm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1093-1095)TTG>TTC		zinc finger protein 727							18.0	17.0	18.0					7																	63538522		692	1589	2281	SO:0001583	missense	442319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63538522G>C			7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.1095G>C	7.37:g.63538522G>C	ENSP00000447987:p.Leu365Phe						p.L365F	NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN			4	1274	+			365						Missense_Mutation	SNP	ENST00000550760.3	37	c.1095G>C	CCDS55113.1	.	.	.	.	.	.	.	.	.	.	G	5.652	0.305013	0.10678	.	.	ENSG00000257482	ENST00000550760	T	0.17854	2.25	1.02	-0.143	0.13444	Zinc finger, C2H2 (1);	.	.	.	.	T	0.09158	0.0226	N	0.19112	0.55	0.22581	N	0.998967	B	0.09022	0.002	B	0.04013	0.001	T	0.40270	-0.9572	8	.	.	.	.	6.5283	0.22312	0.0:0.3057:0.6943:0.0	.	365	A8MUV8	ZN727_HUMAN	F	365	ENSP00000447987:L365F	.	L	+	3	2	ZNF727	63175957	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.669000	0.05262	-0.484000	0.06763	-0.486000	0.04755	TTG		0.393	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001159522		7	18	0	0	0	0.001984	0	7	18		
MAGI2	9863	broad.mit.edu	37	7	77885556	77885556	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:77885556G>A	ENST00000354212.4	-	10	2004	c.1751C>T	c.(1750-1752)cCg>cTg	p.P584L	MAGI2_ENST00000522391.1_Missense_Mutation_p.P584L|MAGI2_ENST00000536571.1_Missense_Mutation_p.P416L|MAGI2_ENST00000535697.1_Missense_Mutation_p.P421L|MAGI2_ENST00000419488.1_Missense_Mutation_p.P584L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	584					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.P584L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATGGACGGGCGGTGGATACGT	0.527																																						uc003ugx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(1750-1752)CCG>CTG		membrane associated guanylate kinase, WW and PDZ							101.0	88.0	92.0					7																	77885556		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885556G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1751C>T	7.37:g.77885556G>A	ENSP00000346151:p.Pro584Leu					MAGI2_uc003ugy.2_Missense_Mutation_p.P584L|MAGI2_uc010ldx.1_Missense_Mutation_p.P193L|MAGI2_uc010ldy.1_Missense_Mutation_p.P193L|MAGI2_uc011kgr.1_Missense_Mutation_p.P416L|MAGI2_uc011kgs.1_Missense_Mutation_p.P421L	p.P584L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			10	2005	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	584					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1751C>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.826926	0.50739	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.10860	2.93;2.93;2.83;3.71;3.73	5.85	5.85	0.93711	PDZ/DHR/GLGF (1);	0.000000	0.36374	U	0.002622	T	0.26304	0.0642	L	0.45581	1.43	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.997;1.0;1.0;1.0;1.0	P;P;D;D;D;D	0.91635	0.905;0.8;0.998;0.998;0.999;0.998	T	0.01795	-1.1272	10	0.12103	T	0.63	.	19.1657	0.93557	0.0:0.0:1.0:0.0	.	421;416;584;584;584;584	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	L	584;584;584;584;416;421	ENSP00000405766:P584L;ENSP00000346151:P584L;ENSP00000428389:P584L;ENSP00000441584:P416L;ENSP00000441603:P421L	ENSP00000346151:P584L	P	-	2	0	MAGI2	77723492	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	6.824000	0.75288	2.771000	0.95319	0.561000	0.74099	CCG		0.527	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3		NM_012301		7	53	0	0	0	0.004482	0	7	53		
PCLO	27445	broad.mit.edu	37	7	82585375	82585375	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:82585375C>T	ENST00000333891.9	-	5	5231	c.4894G>A	c.(4894-4896)Gaa>Aaa	p.E1632K	PCLO_ENST00000423517.2_Missense_Mutation_p.E1632K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E1632K(2)|p.E1563K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCATCGTCTTCATCATGCCAT	0.428																																						uc003uhx.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(7)	7						c.(4894-4896)GAA>AAA		piccolo isoform 1							306.0	292.0	297.0					7																	82585375		2044	4178	6222	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585375C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4894G>A	7.37:g.82585375C>T	ENSP00000334319:p.Glu1632Lys					PCLO_uc003uhv.2_Missense_Mutation_p.E1632K	p.E1632K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	5183	-			1563						Missense_Mutation	SNP	ENST00000333891.9	37	c.4894G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812541	0.32053	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16743	2.32;2.33	5.32	5.32	0.75619	.	.	.	.	.	T	0.22551	0.0544	L	0.44542	1.39	0.80722	D	1	P;P	0.45902	0.868;0.868	B;B	0.44163	0.443;0.443	T	0.01192	-1.1423	9	0.87932	D	0	.	18.9962	0.92813	0.0:1.0:0.0:0.0	.	1632;1632	Q9Y6V0-5;Q9Y6V0-6	.;.	K	1563;1632;1632	ENSP00000334319:E1632K;ENSP00000388393:E1632K	ENSP00000334319:E1632K	E	-	1	0	PCLO	82423311	1.000000	0.71417	0.989000	0.46669	0.925000	0.55904	5.246000	0.65411	2.483000	0.83821	0.655000	0.94253	GAA		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		25	396	0	0	0	0.00632	0	25	396		
PPP1R9A	55607	broad.mit.edu	37	7	94919406	94919406	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:94919406C>G	ENST00000433881.1	+	16	3620	c.3088C>G	c.(3088-3090)Ctt>Gtt	p.L1030V	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.L1030V|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.L1185V|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.L1185V|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.L1228V|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.L1306V			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	1030	Interacts with TGN38. {ECO:0000250}.|SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.L1306V(1)|p.L1254V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCTTAGGCTCTTGGAATGAC	0.413										HNSCC(28;0.073)																												uc003unp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(3088-3090)CTT>GTT		protein phosphatase 1, regulatory (inhibitor)							46.0	50.0	49.0					7																	94919406		2203	4298	6501	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94919406C>G	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.3088C>G	7.37:g.94919406C>G	ENSP00000398870:p.Leu1030Val	HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Missense_Mutation_p.L1306V|PPP1R9A_uc011kif.1_Missense_Mutation_p.L1228V|PPP1R9A_uc003unq.2_Missense_Mutation_p.L1185V|PPP1R9A_uc011kig.1_Missense_Mutation_p.L1022V|PPP1R9A_uc003unr.2_Missense_Mutation_p.L319V	p.L1030V	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		16	3370	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		1030			Interacts with TGN38 (By similarity).|SAM.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.3088C>G	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314646	0.60524	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;T;D;D;T	0.87966	-2.32;-2.32;1.47;-2.32;-2.32;1.47	4.87	4.87	0.63330	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000001	D	0.94801	0.8321	M	0.90252	3.1	0.39498	D	0.96815	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.997;0.996;0.998;0.991;0.998	D	0.95937	0.8943	10	0.87932	D	0	.	18.5958	0.91229	0.0:1.0:0.0:0.0	.	1022;1228;1306;1246;1185;1030	B7ZLX4;F8W7J9;E9PDX1;D6W5R0;E9PCK6;Q9ULJ8	.;.;.;.;.;NEB1_HUMAN	V	1306;1030;1185;1030;1228;1185	ENSP00000405514:L1306V;ENSP00000344524:L1030V;ENSP00000411342:L1185V;ENSP00000398870:L1030V;ENSP00000289495:L1228V;ENSP00000402893:L1185V	ENSP00000289495:L1228V	L	+	1	0	PPP1R9A	94757342	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	7.151000	0.77411	2.717000	0.92951	0.655000	0.94253	CTT		0.413	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1		NM_001166160		10	41	0	0	0	0.008291	0	10	41		
TAC1	6863	broad.mit.edu	37	7	97362036	97362036	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:97362036G>T	ENST00000319273.5	+	2	409	c.112G>T	c.(112-114)Gac>Tac	p.D38Y	TAC1_ENST00000346867.4_Missense_Mutation_p.D38Y|TAC1_ENST00000350485.4_Missense_Mutation_p.D38Y	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	38					associative learning (GO:0008306)|cell-cell signaling (GO:0007267)|detection of abiotic stimulus (GO:0009582)|inflammatory response (GO:0006954)|insemination (GO:0007320)|long-term memory (GO:0007616)|negative regulation of heart rate (GO:0010459)|neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of blood pressure (GO:0008217)|response to hormone (GO:0009725)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)|tachykinin receptor signaling pathway (GO:0007217)	axon (GO:0030424)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.D38Y(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)					GTACGACAGCGACCAGATCAA	0.557																																						uc003uop.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(112-114)GAC>TAC		tachykinin 1 isoform beta precursor	Bacitracin(DB00626)						105.0	95.0	98.0					7																	97362036		2203	4300	6503	SO:0001583	missense	6863				detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space		g.chr7:97362036G>T	M68907	CCDS5649.1, CCDS5650.1, CCDS5651.1	7q21-q22	2013-02-26	2008-01-17		ENSG00000006128	ENSG00000006128		"""Endogenous ligands"""	11517	protein-coding gene	gene with protein product	"""substance K"", ""substance P"", ""neurokinin 1"", ""neurokinin 2"", ""neuromedin L"", ""neurokinin alpha"", ""neuropeptide K"", ""neuropeptide gamma"", ""preprotachykinin"""	162320	"""tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)"""	TAC2, NKNA		1708336	Standard	NM_003182		Approved	NPK	uc003uop.4	P20366	OTTHUMG00000154069	ENST00000319273.5:c.112G>T	7.37:g.97362036G>T	ENSP00000321106:p.Asp38Tyr					TAC1_uc003uoq.3_Missense_Mutation_p.D38Y|TAC1_uc003uor.3_Missense_Mutation_p.D38Y|TAC1_uc003uos.3_Missense_Mutation_p.D38Y	p.D38Y	NM_003182	NP_003173	P20366	TKN1_HUMAN			2	358	+	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)		38					O60600|O60601|Q00072|Q53GH4|Q549V0|Q549V1|Q549V2|Q6FHM1	Missense_Mutation	SNP	ENST00000319273.5	37	c.112G>T	CCDS5649.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304611	0.60305	.	.	ENSG00000006128	ENST00000319273;ENST00000350485;ENST00000346867	.	.	.	4.91	3.1	0.35709	.	0.102116	0.64402	D	0.000004	T	0.59335	0.2186	L	0.40543	1.245	0.37608	D	0.920831	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.966;0.999;0.999	T	0.63377	-0.6651	9	0.87932	D	0	-7.9028	7.4904	0.27458	0.194:0.0:0.8059:0.0	.	38;38;38;38	P20366-4;P20366-3;P20366-2;P20366	.;.;.;TKN1_HUMAN	Y	38	.	ENSP00000321106:D38Y	D	+	1	0	TAC1	97199972	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.323000	0.65858	0.794000	0.33899	0.561000	0.74099	GAC		0.557	TAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333696.1		NM_003182		24	69	1	0	1.1804e-14	0.003954	1.22119e-14	24	69		
ZNF655	79027	broad.mit.edu	37	7	99170257	99170257	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:99170257G>A	ENST00000394163.2	+	3	709	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	ZNF655_ENST00000424881.1_Missense_Mutation_p.E211K|ZNF655_ENST00000493277.1_Missense_Mutation_p.E211K|ZNF655_ENST00000252713.4_Missense_Mutation_p.E176K|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	176					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E176K(1)|p.E211K(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TGGTAAACATGAACACTTAAA	0.378																																						uc003urh.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(526-528)GAA>AAA		zinc finger protein 655 isoform a							52.0	53.0	53.0					7																	99170257		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170257G>A	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.526G>A	7.37:g.99170257G>A	ENSP00000377718:p.Glu176Lys					ZNF655_uc010lga.2_Missense_Mutation_p.E211K|ZNF655_uc010lgc.2_Missense_Mutation_p.E211K|ZNF655_uc003urj.2_Missense_Mutation_p.E176K|ZNF655_uc003urk.2_Missense_Mutation_p.E13K|ZNF655_uc010lgd.2_Missense_Mutation_p.E13K	p.E176K	NM_138494	NP_612503	Q8N720	ZN655_HUMAN			3	919	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		176					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.526G>A	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168164	0.57476	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.05786	3.43;3.39;3.39;3.43	4.66	3.79	0.43588	.	0.156920	0.30260	N	0.010026	T	0.07324	0.0185	N	0.19112	0.55	0.80722	D	1	P;D	0.59767	0.925;0.986	P;P	0.52159	0.691;0.612	T	0.37126	-0.9719	10	0.44086	T	0.13	-10.5379	8.9017	0.35499	0.0991:0.0:0.9009:0.0	.	211;176	Q8N720-3;Q8N720	.;ZN655_HUMAN	K	176;211;211;176	ENSP00000252713:E176K;ENSP00000419135:E211K;ENSP00000393876:E211K;ENSP00000377718:E176K	ENSP00000252713:E176K	E	+	1	0	ZNF655	99008193	0.045000	0.20229	0.995000	0.50966	0.845000	0.48019	1.088000	0.30877	1.577000	0.49804	0.650000	0.86243	GAA		0.378	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1		NM_138494		9	57	0	0	0	0.004482	0	9	57		
ZNF655	79027	broad.mit.edu	37	7	99170385	99170385	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:99170385G>A	ENST00000394163.2	+	3	837	c.654G>A	c.(652-654)ggG>ggA	p.G218G	ZNF655_ENST00000424881.1_Silent_p.G253G|ZNF655_ENST00000493277.1_Silent_p.G253G|ZNF655_ENST00000252713.4_Silent_p.G218G|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	218					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G218G(1)|p.G253G(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ATGTATGTGGGAAAATTTTCC	0.388																																						uc003urh.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(652-654)GGG>GGA		zinc finger protein 655 isoform a							29.0	31.0	30.0					7																	99170385		2191	4293	6484	SO:0001819	synonymous_variant	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170385G>A	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.654G>A	7.37:g.99170385G>A						ZNF655_uc010lga.2_Silent_p.G253G|ZNF655_uc010lgc.2_Silent_p.G253G|ZNF655_uc003urj.2_Silent_p.G218G|ZNF655_uc003urk.2_Silent_p.G55G|ZNF655_uc010lgd.2_Silent_p.G55G	p.G218G	NM_138494	NP_612503	Q8N720	ZN655_HUMAN			3	1047	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		218			C2H2-type 1.		A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Silent	SNP	ENST00000394163.2	37	c.654G>A	CCDS5669.1																																																																																				0.388	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1		NM_138494		16	46	0	0	0	0.003163	0	16	46		
ZNF655	79027	broad.mit.edu	37	7	99170442	99170442	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:99170442G>A	ENST00000394163.2	+	3	894	c.711G>A	c.(709-711)gaG>gaA	p.E237E	ZNF655_ENST00000424881.1_Silent_p.E272E|ZNF655_ENST00000493277.1_Silent_p.E272E|ZNF655_ENST00000252713.4_Silent_p.E237E|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	237					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E237E(1)|p.E272E(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ATACTAGAGAGAAGCCCTACA	0.378																																						uc003urh.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(709-711)GAG>GAA		zinc finger protein 655 isoform a							28.0	30.0	29.0					7																	99170442		2200	4298	6498	SO:0001819	synonymous_variant	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170442G>A	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.711G>A	7.37:g.99170442G>A						ZNF655_uc010lga.2_Silent_p.E272E|ZNF655_uc010lgc.2_Silent_p.E272E|ZNF655_uc003urj.2_Silent_p.E237E|ZNF655_uc003urk.2_Silent_p.E74E|ZNF655_uc010lgd.2_Silent_p.E74E	p.E237E	NM_138494	NP_612503	Q8N720	ZN655_HUMAN			3	1104	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		237					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Silent	SNP	ENST00000394163.2	37	c.711G>A	CCDS5669.1																																																																																				0.378	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1		NM_138494		9	52	0	0	0	0.004482	0	9	52		
ZNF655	79027	broad.mit.edu	37	7	99170930	99170930	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:99170930G>C	ENST00000394163.2	+	3	1382	c.1199G>C	c.(1198-1200)aGa>aCa	p.R400T	ZNF655_ENST00000424881.1_Missense_Mutation_p.R435T|ZNF655_ENST00000493277.1_Missense_Mutation_p.R435T|ZNF655_ENST00000252713.4_Missense_Mutation_p.R400T|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	400					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R435T(1)|p.R400T(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CAGCATCAAAGAATTCACACA	0.353																																						uc003urh.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1198-1200)AGA>ACA		zinc finger protein 655 isoform a							75.0	76.0	75.0					7																	99170930		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170930G>C	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.1199G>C	7.37:g.99170930G>C	ENSP00000377718:p.Arg400Thr					ZNF655_uc010lga.2_Missense_Mutation_p.R435T|ZNF655_uc010lgc.2_Missense_Mutation_p.R435T|ZNF655_uc003urj.2_Missense_Mutation_p.R400T|ZNF655_uc003urk.2_Missense_Mutation_p.R237T|ZNF655_uc010lgd.2_Missense_Mutation_p.R237T	p.R400T	NM_138494	NP_612503	Q8N720	ZN655_HUMAN			3	1592	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		400			C2H2-type 5.		A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.1199G>C	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723357	0.48728	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.07	0.854	0.19007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000404	T	0.22126	0.0533	M	0.75264	2.295	0.80722	D	1	P;P	0.38617	0.587;0.64	B;B	0.36885	0.151;0.235	T	0.06954	-1.0798	10	0.72032	D	0.01	-9.315	1.2465	0.01973	0.1695:0.1485:0.3775:0.3044	.	435;400	Q8N720-3;Q8N720	.;ZN655_HUMAN	T	400;435;435;400	ENSP00000252713:R400T;ENSP00000419135:R435T;ENSP00000393876:R435T;ENSP00000377718:R400T	ENSP00000252713:R400T	R	+	2	0	ZNF655	99008866	0.000000	0.05858	0.998000	0.56505	0.990000	0.78478	0.311000	0.19380	0.354000	0.24105	0.650000	0.86243	AGA		0.353	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1		NM_138494		23	72	0	0	0	0.014323	0	23	72		
MUC17	140453	broad.mit.edu	37	7	100695124	100695124	+	Silent	SNP	C	C	T	rs572357520		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:100695124C>T	ENST00000306151.4	+	9	13048	c.12984C>T	c.(12982-12984)ttC>ttT	p.F4328F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4328					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.F4328F(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAGACTACTTCGTAGTGGAGT	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19509	0.0		0.0	False		,,,				2504	0.0					uc003uxp.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(12982-12984)TTC>TTT		mucin 17 precursor							134.0	122.0	126.0					7																	100695124		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100695124C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12984C>T	7.37:g.100695124C>T						MUC17_uc010lho.1_RNA	p.F4328F	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			9	13037	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4328			Extracellular (Potential).		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.12984C>T	CCDS34711.1																																																																																				0.587	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		41	116	0	0	0	0.00623	0	41	116		
CUX1	1523	broad.mit.edu	37	7	101845024	101845024	+	Missense_Mutation	SNP	G	G	A	rs374783479		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:101845024G>A	ENST00000292535.7	+	18	2485	c.2447G>A	c.(2446-2448)cGc>cAc	p.R816H	CUX1_ENST00000360264.3_Missense_Mutation_p.R827H|CUX1_ENST00000549414.2_Missense_Mutation_p.R794H|CUX1_ENST00000550008.2_Missense_Mutation_p.R760H|CUX1_ENST00000546411.2_Missense_Mutation_p.R714H|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R658H|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	816					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.R816H(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGGTGGGCCGCAGCGGTGCC	0.672																																						uc003uyx.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(2446-2448)CGC>CAC		cut-like homeobox 1 isoform a		G	HIS/ARG,,,,,,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	21.0	24.0	23.0		2480,,,,,,2447	4.2	0.7	7		23	0,8598		0,0,4299	no	missense,intron,intron,intron,intron,intron,missense	CUX1	NM_001202543.1,NM_001202544.1,NM_001202545.1,NM_001202546.1,NM_001913.3,NM_181500.2,NM_181552.3	29,,,,,,29	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,,,,,,probably-damaging	827/1517,,,,,,816/1506	101845024	1,13001	2202	4299	6501	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101845024G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2447G>A	7.37:g.101845024G>A	ENSP00000292535:p.Arg816His					CUX1_uc003uys.3_Missense_Mutation_p.R827H|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.R816H	NM_181552	NP_853530	P39880	CUX1_HUMAN			18	2485	+			816					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.2447G>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248117	0.80024	2.27E-4	0.0	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.60797	0.18;0.18;0.17;0.16;0.17;0.16	5.03	4.15	0.48705	.	0.278891	0.30771	N	0.008911	T	0.67411	0.2890	M	0.63428	1.95	0.80722	D	1	D;D	0.69078	0.996;0.997	P;P	0.57548	0.67;0.823	T	0.69928	-0.5012	10	0.56958	D	0.05	-10.2813	13.0556	0.58977	0.0774:0.0:0.9226:0.0	.	816;827	P39880;P39880-3	CUX1_HUMAN;.	H	827;816;794;760;714;658	ENSP00000353401:R827H;ENSP00000292535:R816H;ENSP00000446630:R794H;ENSP00000447373:R760H;ENSP00000450125:R714H;ENSP00000451558:R658H	ENSP00000292535:R816H	R	+	2	0	CUX1	101631744	1.000000	0.71417	0.677000	0.29947	0.833000	0.47200	6.536000	0.73842	1.124000	0.41980	0.655000	0.94253	CGC		0.672	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1		NM_001913		11	18	0	0	0	0.008291	0	11	18		
PMPCB	9512	broad.mit.edu	37	7	102940661	102940661	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:102940661G>C	ENST00000249269.4	+	4	402	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	PMPCB_ENST00000428154.1_Missense_Mutation_p.E122Q|PMPCB_ENST00000420236.2_Missense_Mutation_p.E17Q	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	122					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E122Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGGAACTTGAGATTGAAAA	0.388																																						uc003vbl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(364-366)GAG>CAG		mitochondrial processing peptidase beta subunit							133.0	137.0	136.0					7																	102940661		2203	4300	6503	SO:0001583	missense	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102940661G>C	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.364G>C	7.37:g.102940661G>C	ENSP00000249269:p.Glu122Gln					PMPCB_uc010liu.1_Missense_Mutation_p.E122Q|PMPCB_uc003vbk.1_Missense_Mutation_p.E122Q|PMPCB_uc003vbm.2_Missense_Mutation_p.E31Q|PMPCB_uc010liv.2_Missense_Mutation_p.E28Q|PMPCB_uc010liw.2_Missense_Mutation_p.E31Q|PMPCB_uc011kll.1_Missense_Mutation_p.E17Q|PMPCB_uc011klm.1_5'UTR	p.E122Q	NM_004279	NP_004270	O75439	MPPB_HUMAN			4	398	+			122					O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	c.364G>C	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043134	0.55003	.	.	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.19105	2.17;2.17;2.17	5.5	5.5	0.81552	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49729	0.1574	M	0.76727	2.345	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.993;0.996;0.996;0.996;0.996;0.996;1.0	P;D;P;D;D;D;D	0.91635	0.824;0.917;0.86;0.917;0.917;0.917;0.999	T	0.46775	-0.9167	10	0.52906	T	0.07	.	19.4789	0.95000	0.0:0.0:1.0:0.0	.	17;17;122;122;113;122;122	E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4	.;.;.;.;.;MPPB_HUMAN;.	Q	122;122;17	ENSP00000249269:E122Q;ENSP00000390035:E122Q;ENSP00000410393:E17Q	ENSP00000249269:E122Q	E	+	1	0	PMPCB	102727897	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.634000	0.83273	2.594000	0.87642	0.644000	0.83932	GAG		0.388	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1		NM_004279		31	157	0	0	0	0.010818	0	31	157		
BCAP29	55973	broad.mit.edu	37	7	107253828	107253828	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:107253828G>C	ENST00000005259.4	+	7	980	c.641G>C	c.(640-642)aGa>aCa	p.R214T	BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000445771.2_Missense_Mutation_p.R214T|BCAP29_ENST00000379121.2_Missense_Mutation_p.R120T|BCAP29_ENST00000379117.2_Missense_Mutation_p.R214T|BCAP29_ENST00000465919.1_Missense_Mutation_p.R120T|BCAP29_ENST00000379119.2_Missense_Mutation_p.R214T	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	214					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R214T(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						CAGTCAGAGAGACTTTCGAAA	0.328																																						uc003vej.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(640-642)AGA>ACA		B-cell receptor-associated protein BAP29 isoform							81.0	80.0	80.0					7																	107253828		2203	4300	6503	SO:0001583	missense	55973				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		g.chr7:107253828G>C		CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.641G>C	7.37:g.107253828G>C	ENSP00000005259:p.Arg214Thr					BCAP29_uc011kly.1_Missense_Mutation_p.R120T|BCAP29_uc011klz.1_Missense_Mutation_p.R214T|BCAP29_uc011kma.1_Missense_Mutation_p.R214T	p.R214T	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN			7	980	+			214			Cytoplasmic (Potential).		G5E9L4|O95003	Missense_Mutation	SNP	ENST00000005259.4	37	c.641G>C	CCDS34731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.28|16.28	3.078774|3.078774	0.55753|0.55753	.|.	.|.	ENSG00000075790|ENSG00000075790	ENST00000436699|ENST00000005259;ENST00000465919;ENST00000445771;ENST00000457837;ENST00000379117;ENST00000379119;ENST00000491150;ENST00000379121	T|T	0.46451|0.42513	0.87|0.97	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.363841	.|0.35677	.|N	.|0.003055	T|T	0.38558|0.38558	0.1045|0.1045	L|L	0.51422|0.51422	1.61|1.61	0.31878|0.31878	N|N	0.618872|0.618872	.|P;B;B	.|0.43633	.|0.813;0.178;0.178	.|B;B;B	.|0.39152	.|0.292;0.062;0.089	T|T	0.56165|0.56165	-0.8024|-0.8024	7|10	0.37606|0.62326	T|D	0.19|0.03	-6.5039|-6.5039	13.8372|13.8372	0.63417|0.63417	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|214;214;214	.|G5E9L4;C9JTE9;Q9UHQ4	.|.;.;BAP29_HUMAN	D|T	127|214;120;214;214;214;214;171;120	ENSP00000414164:E127D|ENSP00000368416:R120T	ENSP00000414164:E127D|ENSP00000005259:R214T	E|R	+|+	3|2	2|0	BCAP29|BCAP29	107041064|107041064	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	2.509000|2.509000	0.45459|0.45459	2.643000|2.643000	0.89663|0.89663	0.555000|0.555000	0.69702|0.69702	GAG|AGA		0.328	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2		NM_018844		11	41	0	0	0	0.013537	0	11	41		
IFRD1	3475	broad.mit.edu	37	7	112096062	112096062	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:112096062G>A	ENST00000403825.3	+	3	466	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	IFRD1_ENST00000005558.4_Missense_Mutation_p.E69K|IFRD1_ENST00000535603.1_Missense_Mutation_p.E19K|IFRD1_ENST00000429071.1_Missense_Mutation_p.E69K	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	69					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)		p.E69K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CTTAGGACCAGAAGTCCTTGA	0.368																																						uc003vgh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(1)|central_nervous_system(1)	2						c.(205-207)GAA>AAA		interferon-related developmental regulator 1							54.0	55.0	55.0					7																	112096062		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112096062G>A	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.205G>A	7.37:g.112096062G>A	ENSP00000384477:p.Glu69Lys					IFRD1_uc011kmn.1_Missense_Mutation_p.E19K|IFRD1_uc003vgi.2_Missense_Mutation_p.E69K|IFRD1_uc003vgj.2_Missense_Mutation_p.E69K|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Missense_Mutation_p.E19K	p.E69K	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN			4	648	+			69					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.205G>A	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881887	0.91740	.	.	ENSG00000006652	ENST00000005558;ENST00000443101;ENST00000403825;ENST00000429071;ENST00000476927;ENST00000440625;ENST00000535603	T;T;T	0.50548	0.75;0.75;0.74	5.11	5.11	0.69529	Interferon-related developmental regulator, N-terminal (1);	0.193313	0.53938	D	0.000044	T	0.70945	0.3282	M	0.80982	2.52	0.58432	D	0.999996	P;D	0.56035	0.896;0.974	P;D	0.67382	0.649;0.951	T	0.74864	-0.3519	10	0.66056	D	0.02	-30.8677	18.8804	0.92353	0.0:0.0:1.0:0.0	.	69;69	C9JA65;O00458	.;IFRD1_HUMAN	K	69;19;69;69;19;19;19	ENSP00000005558:E69K;ENSP00000384477:E69K;ENSP00000439188:E19K	ENSP00000005558:E69K	E	+	1	0	IFRD1	111883298	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.937000	0.70162	2.532000	0.85374	0.585000	0.79938	GAA		0.368	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1		NM_001550		9	53	0	0	0	0.010729	0	9	53		
WASL	8976	broad.mit.edu	37	7	123332847	123332847	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:123332847G>C	ENST00000223023.4	-	9	1233	c.901C>G	c.(901-903)Cct>Gct	p.P301A		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	301	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.P301A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						gcaggaggaggaggaggacct	0.602																																						uc003vkz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(901-903)CCT>GCT		Wiskott-Aldrich syndrome gene-like protein							46.0	50.0	49.0					7																	123332847		2203	4299	6502	SO:0001583	missense	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332847G>C	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.901C>G	7.37:g.123332847G>C	ENSP00000223023:p.Pro301Ala						p.P301A	NM_003941	NP_003932	O00401	WASL_HUMAN			9	1229	-			301			Pro-rich.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.901C>G	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359629	0.61403	.	.	ENSG00000106299	ENST00000223023	D	0.91521	-2.86	5.39	5.39	0.77823	Wiscott-Aldrich syndrome, C-terminal (1);	0.164086	0.56097	D	0.000037	D	0.89570	0.6753	M	0.62088	1.915	0.80722	D	1	B	0.22541	0.071	B	0.18263	0.021	D	0.85786	0.1364	10	0.33940	T	0.23	-1.9531	19.209	0.93747	0.0:0.0:1.0:0.0	.	301	O00401	WASL_HUMAN	A	301	ENSP00000223023:P301A	ENSP00000223023:P301A	P	-	1	0	WASL	123120083	1.000000	0.71417	0.983000	0.44433	0.984000	0.73092	9.087000	0.94110	2.528000	0.85240	0.644000	0.83932	CCT		0.602	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1		NM_003941		32	89	0	0	0	0.010818	0	32	89		
SND1	27044	broad.mit.edu	37	7	127714730	127714730	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:127714730G>A	ENST00000354725.3	+	17	2150	c.1956G>A	c.(1954-1956)caG>caA	p.Q652Q		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	652	TNase-like 4. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.Q652Q(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCGCAAAGCAGAAGAAAGAGA	0.602																																						uc003vmi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1954-1956)CAG>CAA		staphylococcal nuclease domain containing 1							44.0	36.0	39.0					7																	127714730		2203	4300	6503	SO:0001819	synonymous_variant	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127714730G>A		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1956G>A	7.37:g.127714730G>A						SND1_uc010lle.2_Silent_p.Q305Q	p.Q652Q	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN			17	2182	+			652			TNase-like 4.		Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	37	c.1956G>A	CCDS34747.1																																																																																				0.602	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1		NM_014390		4	23	0	0	0	0.009096	0	4	23		
CHCHD3	54927	broad.mit.edu	37	7	132754904	132754904	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:132754904G>C	ENST00000262570.5	-	2	311	c.167C>G	c.(166-168)tCa>tGa	p.S56*	CHCHD3_ENST00000476546.1_Intron|CHCHD3_ENST00000448878.1_Nonsense_Mutation_p.S56*|CHCHD3_ENST00000542753.1_Nonsense_Mutation_p.S56*	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	56					inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.S56*(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						AGCAATACCTGAGGCACCATA	0.378																																						uc003vre.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(166-168)TCA>TGA		coiled-coil-helix-coiled-coil-helix domain							68.0	59.0	62.0					7																	132754904		2203	4300	6503	SO:0001587	stop_gained	54927				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold	g.chr7:132754904G>C	BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21906	protein-coding gene	gene with protein product	"""mitochondrial inner membrane organizing system 3"", ""protein phosphatase 1, regulatory subunit 22"""	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.167C>G	7.37:g.132754904G>C	ENSP00000262570:p.Ser56*					CHCHD3_uc010lmi.2_RNA|CHCHD3_uc003vrf.2_Nonsense_Mutation_p.S56*|CHCHD3_uc010lmj.2_Intron|CHCHD3_uc011kpn.1_Nonsense_Mutation_p.S56*	p.S56*	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN			2	303	-			56						Nonsense_Mutation	SNP	ENST00000262570.5	37	c.167C>G	CCDS5828.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372184	0.82573	.	.	ENSG00000106554	ENST00000262570;ENST00000448878;ENST00000542753	.	.	.	6.03	5.07	0.68467	.	0.666606	0.15620	N	0.252923	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-8.2027	13.2763	0.60189	0.0:0.0:0.8317:0.1683	.	.	.	.	X	56	.	ENSP00000262570:S56X	S	-	2	0	CHCHD3	132405444	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	2.228000	0.42981	2.861000	0.98227	0.655000	0.94253	TCA		0.378	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1		NM_017812		11	49	0	0	0	0.010729	0	11	49		
PTN	5764	broad.mit.edu	37	7	136936106	136936106	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:136936106C>T	ENST00000348225.2	-	4	749	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	PTN_ENST00000393083.2_Missense_Mutation_p.E108K	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	108					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)	p.E108K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						AGGTCACATTCTCCCCAGGCC	0.507																																						uc003vtq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(322-324)GAA>AAA		pleiotrophin							224.0	204.0	211.0					7																	136936106		2203	4300	6503	SO:0001583	missense	5764				nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	g.chr7:136936106C>T	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.322G>A	7.37:g.136936106C>T	ENSP00000341170:p.Glu108Lys					PTN_uc010lmx.2_Missense_Mutation_p.E108K|PTN_uc003vtr.1_Missense_Mutation_p.E108K	p.E108K	NM_002825	NP_002816	P21246	PTN_HUMAN			4	685	-			108					Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	ENST00000348225.2	37	c.322G>A	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863903	0.91511	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	6.02	6.02	0.97574	Midkine heparin-binding growth factor, N-terminal (1);Midkine heparin-binding growth factor, conserved site (1);Midkine heparin-binding growth factor, C-terminal (2);Midkine heparin-binding growth factor, disulphide-rich domain (1);	0.096959	0.64402	D	0.000001	T	0.75882	0.3910	L	0.52011	1.625	0.58432	D	0.999999	D;P	0.71674	0.998;0.948	D;P	0.67103	0.949;0.607	T	0.74553	-0.3627	9	0.56958	D	0.05	-25.6004	20.5373	0.99239	0.0:1.0:0.0:0.0	.	108;108	C9JR52;P21246	.;PTN_HUMAN	K	108	.	ENSP00000341170:E108K	E	-	1	0	PTN	136586646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.857000	0.98124	0.650000	0.86243	GAA		0.507	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1		NM_002825		57	211	0	0	0	0.01441	0	57	211		
PAXIP1	22976	broad.mit.edu	37	7	154738261	154738261	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:154738261C>T	ENST00000404141.1	-	19	3248	c.3094G>A	c.(3094-3096)Gac>Aac	p.D1032N	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.D1032N			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1032	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.D1032N(1)|p.D998N(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AAATGAAGGTCATTTTCACAG	0.423																																						uc003wlp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(3094-3096)GAC>AAC		PAX interacting protein 1							59.0	59.0	59.0					7																	154738261		1894	4113	6007	SO:0001583	missense	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154738261C>T	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.3094G>A	7.37:g.154738261C>T	ENSP00000384048:p.Asp1032Asn					LOC100132707_uc011kvr.1_Intron|LOC100132707_uc003wlo.2_Intron|PAXIP1_uc003wlq.1_Missense_Mutation_p.D998N|PAXIP1_uc011kvs.1_Missense_Mutation_p.D996N	p.D1032N	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	19	3137	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	1032			Interaction with TP53BP1.|BRCT 6.		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	c.3094G>A	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544637	0.65198	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.59502	0.26;0.26	5.34	5.34	0.76211	BRCT (1);	0.000000	0.64402	U	0.000019	T	0.80444	0.4624	M	0.87180	2.865	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.83275	0.996;0.975;0.902	D	0.83586	0.0120	10	0.66056	D	0.02	-37.1979	19.077	0.93167	0.0:1.0:0.0:0.0	.	985;998;1032	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	N	1032;1032;856;985	ENSP00000384048:D1032N;ENSP00000380376:D1032N	ENSP00000319149:D985N	D	-	1	0	PAXIP1	154369194	1.000000	0.71417	0.950000	0.38849	0.572000	0.35998	7.195000	0.77798	2.491000	0.84063	0.555000	0.69702	GAC		0.423	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1		NM_007349		6	40	0	0	0	0.001168	0	6	40		
RP1L1	94137	broad.mit.edu	37	8	10466192	10466192	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:10466192G>C	ENST00000382483.3	-	4	5639	c.5416C>G	c.(5416-5418)Caa>Gaa	p.Q1806E		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1886					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.Q1806E(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCAGAGCCTTGACCCCCAGTT	0.587																																						uc003wtc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5416-5418)CAA>GAA		retinitis pigmentosa 1-like 1							175.0	196.0	189.0					8																	10466192		2114	4215	6329	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466192G>C	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5416C>G	8.37:g.10466192G>C	ENSP00000371923:p.Gln1806Glu						p.Q1806E	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5645	-			1806					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5416C>G	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.257942	0.01457	.	.	ENSG00000183638	ENST00000382483	T	0.03635	3.86	4.07	-3.33	0.04958	.	1.326240	0.05885	N	0.627197	T	0.01353	0.0044	N	0.04508	-0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43015	-0.9417	10	0.02654	T	1	0.0295	1.7837	0.03037	0.1098:0.2782:0.255:0.357	.	1806	A6NKC6	.	E	1806	ENSP00000371923:Q1806E	ENSP00000371923:Q1806E	Q	-	1	0	RP1L1	10503602	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.742000	0.04850	-0.586000	0.05898	0.455000	0.32223	CAA		0.587	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1				80	308	0	0	0	0.01441	0	80	308		
BIN3	55909	broad.mit.edu	37	8	22487503	22487503	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:22487503C>T	ENST00000276416.6	-	6	380	c.312G>A	c.(310-312)caG>caA	p.Q104Q	BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000520292.1_Silent_p.Q104Q|BIN3_ENST00000399977.4_Silent_p.Q56Q|BIN3_ENST00000519513.1_Silent_p.Q50Q	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	104	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)	p.Q104Q(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TCACAGTCTTCTGGATCTGGT	0.537																																						uc003xcl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(310-312)CAG>CAA		bridging integrator 3							43.0	43.0	43.0					8																	22487503		1868	4104	5972	SO:0001819	synonymous_variant	55909				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity	g.chr8:22487503C>T		CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.312G>A	8.37:g.22487503C>T						BIN3_uc003xck.2_Silent_p.Q56Q|BIN3_uc010ltw.2_Silent_p.Q50Q	p.Q104Q	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	6	409	-		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)	104			BAR.		Q9BVG2|Q9NVY9	Silent	SNP	ENST00000276416.6	37	c.312G>A	CCDS47825.1																																																																																				0.537	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375895.1				4	19	0	0	0	0.000602	0	4	19		
ZNF395	55893	broad.mit.edu	37	8	28206244	28206244	+	Missense_Mutation	SNP	G	G	C	rs12545851		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:28206244G>C	ENST00000344423.5	-	10	1665	c.1534C>G	c.(1534-1536)Ctg>Gtg	p.L512V	ZNF395_ENST00000523095.1_Missense_Mutation_p.L512V|ZNF395_ENST00000523202.1_Missense_Mutation_p.L512V	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L512V(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GCTCAGTCCAGAAAGCGCTGG	0.622																																						uc003xgq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1534-1536)CTG>GTG		zinc finger protein 395							56.0	55.0	55.0					8																	28206244		2203	4300	6503	SO:0001583	missense	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28206244G>C	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1534C>G	8.37:g.28206244G>C	ENSP00000340494:p.Leu512Val					ZNF395_uc003xgt.2_Missense_Mutation_p.L512V|ZNF395_uc003xgr.2_Missense_Mutation_p.L512V|ZNF395_uc003xgs.2_Missense_Mutation_p.L512V	p.L512V	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	10	1622	-		Ovarian(32;2.06e-05)	512					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	37	c.1534C>G	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689449	0.88735	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	T;T;T	0.46063	0.88;0.88;0.88	5.74	5.74	0.90152	.	0.415734	0.25900	N	0.027562	T	0.43055	0.1230	N	0.19112	0.55	0.80722	D	1	D	0.59767	0.986	P	0.56278	0.795	T	0.11518	-1.0584	10	0.16896	T	0.51	-11.1069	17.4265	0.87527	0.0:0.0:1.0:0.0	.	512	Q9H8N7	ZN395_HUMAN	V	512	ENSP00000340494:L512V;ENSP00000429640:L512V;ENSP00000428452:L512V	ENSP00000340494:L512V	L	-	1	2	ZNF395	28262163	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.783000	0.55409	2.720000	0.93068	0.650000	0.86243	CTG		0.622	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1				14	60	0	0	0	0.008871	0	14	60		
EXTL3	2137	broad.mit.edu	37	8	28574875	28574875	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:28574875C>G	ENST00000220562.4	+	3	2201	c.1299C>G	c.(1297-1299)atC>atG	p.I433M	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.I49M	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	433					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.I433M(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCGCCCTCATCATTACCCCCG	0.622																																						uc003xgz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(1297-1299)ATC>ATG		exostoses-like 3							58.0	55.0	56.0					8																	28574875		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28574875C>G	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1299C>G	8.37:g.28574875C>G	ENSP00000220562:p.Ile433Met						p.I433M	NM_001440	NP_001431	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1892	+		Ovarian(32;0.069)	433			Lumenal (Potential).		D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.1299C>G	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042398	0.35989	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.97772	-4.53;-4.53	5.02	-2.43	0.06522	.	0.229238	0.43747	D	0.000536	D	0.97288	0.9113	L	0.57536	1.79	0.39721	D	0.971469	D	0.57899	0.981	P	0.62491	0.903	D	0.95413	0.8500	10	0.52906	T	0.07	-24.6984	11.7954	0.52098	0.1706:0.7133:0.0:0.1161	.	433	O43909	EXTL3_HUMAN	M	49;433	ENSP00000428691:I49M;ENSP00000220562:I433M	ENSP00000220562:I433M	I	+	3	3	EXTL3	28630794	0.435000	0.25577	0.985000	0.45067	0.973000	0.67179	-0.312000	0.08113	-0.431000	0.07307	0.655000	0.94253	ATC		0.622	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3		NM_001440		32	84	0	0	0	0.010818	0	32	84		
IDO2	169355	broad.mit.edu	37	8	39806667	39806667	+	5'Flank	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:39806667G>C	ENST00000389060.4	+	0	0				RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_Splice_Site|IDO2_ENST00000502986.2_Splice_Site			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2						cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TTTCCATGCAGATACTTCAAA	0.428																																						uc010lwy.1		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(2)	2						c.e2-1		indoleamine-pyrrole 2,3 dioxygenase-like 1							52.0	51.0	51.0					8																	39806667		1879	4108	5987	SO:0001631	upstream_gene_variant	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39806667G>C	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271		8.37:g.39806667G>C	Exception_encountered					IDO2_uc003xno.1_Splice_Site	p.D8_splice	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN			2	265	+								A4UD41	Splice_Site	SNP	ENST00000389060.4	37	c.23_splice		.	.	.	.	.	.	.	.	.	.	-	4.046	0.006170	0.07866	.	.	ENSG00000188676	ENST00000502986	.	.	.	4.96	2.14	0.27477	.	.	.	.	.	.	.	.	.	.	.	0.20638	N	0.999877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1028	0.14768	0.1924:0.1864:0.6212:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IDO2	39925824	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.016000	0.12613	0.675000	0.31264	0.645000	0.84053	.		0.428	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1		NM_194294		4	16	0	0	0	0.000602	0	4	16		
CHRNB3	1142	broad.mit.edu	37	8	42585842	42585842	+	Missense_Mutation	SNP	G	G	A	rs75170626		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:42585842G>A	ENST00000289957.2	+	4	483	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	119					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)	p.E119K(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	AGTTCTCTTTGAAAAGTAAGT	0.398																																						uc003xpi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(355-357)GAA>AAA		cholinergic receptor, nicotinic, beta							85.0	81.0	82.0					8																	42585842		2203	4300	6503	SO:0001583	missense	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42585842G>A	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.355G>A	8.37:g.42585842G>A	ENSP00000289957:p.Glu119Lys						p.E119K	NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		4	483	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	119			Extracellular (Potential).		Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	c.355G>A	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	g	18.69	3.677341	0.68042	.	.	ENSG00000147432	ENST00000289957	T	0.79554	-1.28	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.78604	0.4309	L	0.53561	1.675	0.58432	D	0.99999	B	0.22480	0.07	B	0.31614	0.133	T	0.77029	-0.2739	10	0.87932	D	0	.	12.3524	0.55155	0.0819:0.0:0.9181:0.0	.	119	Q05901	ACHB3_HUMAN	K	119	ENSP00000289957:E119K	ENSP00000289957:E119K	E	+	1	0	CHRNB3	42704999	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.779000	0.68948	2.651000	0.90000	0.650000	0.86243	GAA		0.398	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1				14	58	0	0	0	0.003163	0	14	58		
POTEA	340441	broad.mit.edu	37	8	43211963	43211963	+	RNA	SNP	C	C	G	rs200028382		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:43211963C>G	ENST00000522175.2	+	0	1286							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.L474L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TACTAGAACTCAAAAATAGCC	0.353																																						uc003xpz.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1420-1422)CTC>CTG		POTE ankyrin domain family, member A isoform 2							80.0	72.0	74.0					8																	43211963		1819	4090	5909			340441							g.chr8:43211963C>G	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43211963C>G						POTEA_uc003xqa.1_Silent_p.L428L	p.L474L	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			12	1465	+			474			Potential.		A6ND17|A6ND71|Q6S8J6	Silent	SNP	ENST00000522175.2	37	c.1422C>G																																																																																					0.353	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1		NM_001002920		13	63	0	0	0	0.013537	0	13	63		
SPIDR	23514	broad.mit.edu	37	8	48641538	48641538	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:48641538C>T	ENST00000297423.4	+	18	2863	c.2479C>T	c.(2479-2481)Cct>Tct	p.P827S	SPIDR_ENST00000518074.1_Missense_Mutation_p.P767S|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Missense_Mutation_p.P302S|SPIDR_ENST00000541342.1_Missense_Mutation_p.P757S|SPIDR_ENST00000518060.1_Missense_Mutation_p.P29S	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	827					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.P827S(1)									GGTCACATCTCCTGTTCTCAA	0.592																																						uc003xqd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2479-2481)CCT>TCT		hypothetical protein LOC23514							63.0	65.0	65.0					8																	48641538		2035	4187	6222	SO:0001583	missense	23514							g.chr8:48641538C>T	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.2479C>T	8.37:g.48641538C>T	ENSP00000297423:p.Pro827Ser					KIAA0146_uc011ldc.1_Missense_Mutation_p.P757S|KIAA0146_uc011ldd.1_Missense_Mutation_p.P767S|KIAA0146_uc003xqe.2_Missense_Mutation_p.P302S|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_Intron|KIAA0146_uc011ldf.1_Missense_Mutation_p.P332S|KIAA0146_uc011ldg.1_Missense_Mutation_p.P317S|KIAA0146_uc003xqg.1_Intron	p.P827S	NM_001080394	NP_001073863	Q14159	K0146_HUMAN			18	2488	+		Lung NSC(58;0.175)	827					B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.2479C>T	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559971	0.65538	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362;ENST00000517619;ENST00000518060	.	.	.	5.84	4.06	0.47325	.	0.054581	0.64402	N	0.000001	T	0.63105	0.2483	L	0.61218	1.895	0.23361	N	0.997835	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.995;0.995	D;D;D;P;P	0.97110	1.0;1.0;1.0;0.799;0.799	T	0.55872	-0.8072	9	0.87932	D	0	.	10.3189	0.43753	0.0:0.8611:0.0:0.1389	.	317;332;767;757;827	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;Q14159	.;.;.;.;K0146_HUMAN	S	827;767;757;332;302;302;29;29	.	ENSP00000297423:P827S	P	+	1	0	KIAA0146	48804091	0.802000	0.28943	0.080000	0.20451	0.082000	0.17680	2.913000	0.48790	0.823000	0.34589	0.561000	0.74099	CCT		0.592	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1		NM_001080394		24	91	0	0	0	0.003954	0	24	91		
SPIDR	23514	broad.mit.edu	37	8	48641544	48641544	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:48641544C>T	ENST00000297423.4	+	18	2869	c.2485C>T	c.(2485-2487)Ctc>Ttc	p.L829F	SPIDR_ENST00000518074.1_Missense_Mutation_p.L769F|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Missense_Mutation_p.L304F|SPIDR_ENST00000541342.1_Missense_Mutation_p.L759F|SPIDR_ENST00000518060.1_Missense_Mutation_p.L31F	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	829					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.L829F(1)									ATCTCCTGTTCTCAAGAGGCA	0.592																																						uc003xqd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2485-2487)CTC>TTC		hypothetical protein LOC23514							60.0	63.0	62.0					8																	48641544		2047	4193	6240	SO:0001583	missense	23514							g.chr8:48641544C>T	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.2485C>T	8.37:g.48641544C>T	ENSP00000297423:p.Leu829Phe					KIAA0146_uc011ldc.1_Missense_Mutation_p.L759F|KIAA0146_uc011ldd.1_Missense_Mutation_p.L769F|KIAA0146_uc003xqe.2_Missense_Mutation_p.L304F|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_Intron|KIAA0146_uc011ldf.1_Missense_Mutation_p.L334F|KIAA0146_uc011ldg.1_Missense_Mutation_p.L319F|KIAA0146_uc003xqg.1_Intron	p.L829F	NM_001080394	NP_001073863	Q14159	K0146_HUMAN			18	2494	+		Lung NSC(58;0.175)	829					B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.2485C>T	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731658	0.30684	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362;ENST00000517619;ENST00000518060	.	.	.	5.84	0.774	0.18521	.	0.701012	0.14258	N	0.331007	T	0.36552	0.0971	L	0.34521	1.04	0.09310	N	1	D;D;B;B;B	0.53151	0.958;0.958;0.222;0.246;0.246	P;P;B;B;B	0.54312	0.748;0.748;0.08;0.086;0.086	T	0.18587	-1.0332	9	0.44086	T	0.13	.	8.974	0.35924	0.0:0.3909:0.4693:0.1398	.	319;334;769;759;829	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;Q14159	.;.;.;.;K0146_HUMAN	F	829;769;759;334;304;304;31;31	.	ENSP00000297423:L829F	L	+	1	0	KIAA0146	48804097	0.014000	0.17966	0.017000	0.16124	0.107000	0.19398	-0.027000	0.12371	0.106000	0.17784	-1.186000	0.01703	CTC		0.592	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1		NM_001080394		24	90	0	0	0	0.00333	0	24	90		
ARFGEF1	10565	broad.mit.edu	37	8	68163633	68163633	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:68163633C>G	ENST00000262215.3	-	19	3140	c.2751G>C	c.(2749-2751)caG>caC	p.Q917H	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Q371H	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	917					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.Q917H(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCTTGGCCATCTGCTCCATTT	0.398																																						uc003xxo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(2749-2751)CAG>CAC		brefeldin A-inhibited guanine							122.0	106.0	111.0					8																	68163633		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68163633C>G	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2751G>C	8.37:g.68163633C>G	ENSP00000262215:p.Gln917His					ARFGEF1_uc003xxl.1_Missense_Mutation_p.Q371H	p.Q917H	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		19	3141	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	917					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.2751G>C	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214312	0.58452	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.52295	0.67;0.67	5.75	1.45	0.22620	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	M	0.72894	2.215	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.56751	0.805;0.615	T	0.57010	-0.7884	10	0.49607	T	0.09	.	9.8845	0.41253	0.0:0.5611:0.0:0.4389	.	917;371	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	H	371;917	ENSP00000428429:Q371H;ENSP00000262215:Q917H	ENSP00000262215:Q917H	Q	-	3	2	ARFGEF1	68326187	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.899000	0.28417	0.370000	0.24538	0.557000	0.71058	CAG		0.398	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4		NM_006421		7	50	0	0	0	0.004482	0	7	50		
SLCO5A1	81796	broad.mit.edu	37	8	70650368	70650368	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:70650368C>G	ENST00000260126.4	-	5	2036	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.E444Q|SLCO5A1_ENST00000530307.1_Intron	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	444						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.E444Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATGGCACTCTCAGCTGTGTAT	0.423																																						uc003xyl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1330-1332)GAG>CAG		solute carrier organic anion transporter family,							175.0	154.0	161.0					8																	70650368		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70650368C>G	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1330G>C	8.37:g.70650368C>G	ENSP00000260126:p.Glu444Gln					SLCO5A1_uc010lzb.2_Intron|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.E444Q|SLCO5A1_uc010lzc.2_Intron	p.E444Q	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		5	2037	-	Breast(64;0.0654)		444			Helical; Name=7; (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1330G>C	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075209	0.94000	.	.	ENSG00000137571	ENST00000260126;ENST00000524945	T;T	0.57595	0.39;0.39	5.81	5.81	0.92471	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.65873	0.2733	L	0.41124	1.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	T	0.57723	-0.7762	10	0.24483	T	0.36	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	444;444	Q9H2Y9;G3V1C0	SO5A1_HUMAN;.	Q	444	ENSP00000260126:E444Q;ENSP00000434422:E444Q	ENSP00000260126:E444Q	E	-	1	0	SLCO5A1	70812922	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.813000	0.86123	2.736000	0.93811	0.655000	0.94253	GAG		0.423	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3		NM_030958		11	82	0	0	0	0.010729	0	11	82		
GDAP1	54332	broad.mit.edu	37	8	75262801	75262801	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:75262801C>T	ENST00000220822.7	+	1	185	c.105C>T	c.(103-105)ttC>ttT	p.F35F	GDAP1_ENST00000434412.2_Intron|CTD-2320G14.2_ENST00000521872.1_RNA|GDAP1_ENST00000521096.1_Intron	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	35	GST N-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)		p.F35F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CGCATTCGTTCAGCTCTCAAA	0.627																																						uc003yah.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(103-105)TTC>TTT		ganglioside-induced differentiation-associated							57.0	59.0	58.0					8																	75262801		2203	4300	6503	SO:0001819	synonymous_variant	54332					cytoplasm		g.chr8:75262801C>T		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"""Charcot-Marie-Tooth neuropathy 4A"""	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.105C>T	8.37:g.75262801C>T						GDAP1_uc011lfj.1_5'UTR|GDAP1_uc003yai.2_Intron	p.F35F	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		1	184	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	35			GST N-terminal.		A8K957|E7FJF3|E7FJF4	Silent	SNP	ENST00000220822.7	37	c.105C>T	CCDS34911.1																																																																																				0.627	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1		NM_018972		14	58	0	0	0	0.006122	0	14	58		
KIAA1429	25962	broad.mit.edu	37	8	95541352	95541352	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:95541352C>T	ENST00000297591.5	-	7	901	c.826G>A	c.(826-828)Gag>Aag	p.E276K	KIAA1429_ENST00000437199.1_Missense_Mutation_p.E276K|KIAA1429_ENST00000421249.2_Missense_Mutation_p.E276K	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	276	Glu-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E276K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			tcttcctcctcAGGAATACTG	0.433																																						uc003ygo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(826-828)GAG>AAG		hypothetical protein LOC25962 isoform 1							402.0	315.0	345.0					8																	95541352		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95541352C>T	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.826G>A	8.37:g.95541352C>T	ENSP00000297591:p.Glu276Lys					KIAA1429_uc003ygp.2_Missense_Mutation_p.E276K|KIAA1429_uc010maz.1_5'Flank	p.E276K	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		7	839	-	Breast(36;3.29e-05)		276			Glu-rich.		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.826G>A	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575636	0.65878	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.50277	0.78;0.76;0.75	5.23	5.23	0.72850	.	0.616112	0.17031	N	0.189700	T	0.28962	0.0719	N	0.08118	0	0.37474	D	0.915747	P;B	0.37330	0.59;0.081	B;B	0.30105	0.111;0.031	T	0.34153	-0.9840	10	0.39692	T	0.17	-7.5324	18.1527	0.89679	0.0:1.0:0.0:0.0	.	276;276	Q69YN4-4;Q69YN4	.;VIR_HUMAN	K	276	ENSP00000297591:E276K;ENSP00000395600:E276K;ENSP00000398390:E276K	ENSP00000297591:E276K	E	-	1	0	KIAA1429	95610528	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.898000	0.69838	2.595000	0.87683	0.591000	0.81541	GAG		0.433	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2		NM_015496		11	21	0	0	0	0.008291	0	11	21		
KCNS2	3788	broad.mit.edu	37	8	99440459	99440459	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:99440459C>T	ENST00000287042.4	+	2	602	c.252C>T	c.(250-252)ttC>ttT	p.F84F	KCNS2_ENST00000521839.1_Silent_p.F84F	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	84					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.F84F(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TGCTGCATTTCTATCACACCG	0.557																																					Pancreas(138;844 2489 9202 24627)	uc003yin.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(250-252)TTC>TTT		potassium voltage-gated channel,							135.0	107.0	117.0					8																	99440459		2203	4300	6503	SO:0001819	synonymous_variant	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440459C>T	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.252C>T	8.37:g.99440459C>T							p.F84F	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	602	+	Breast(36;2.4e-06)		84			Cytoplasmic (Potential).		A8KAN1	Silent	SNP	ENST00000287042.4	37	c.252C>T	CCDS6279.1																																																																																				0.557	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1		NM_020697		34	138	0	0	0	0.013726	0	34	138		
KCNS2	3788	broad.mit.edu	37	8	99440510	99440510	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:99440510C>A	ENST00000287042.4	+	2	653	c.303C>A	c.(301-303)ttC>ttA	p.F101L	KCNS2_ENST00000521839.1_Missense_Mutation_p.F101L	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	101					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.F101L(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCTTCTCCTTCAGCCAGGAGA	0.537																																					Pancreas(138;844 2489 9202 24627)	uc003yin.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(301-303)TTC>TTA		potassium voltage-gated channel,							125.0	108.0	114.0					8																	99440510		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440510C>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.303C>A	8.37:g.99440510C>A	ENSP00000287042:p.Phe101Leu						p.F101L	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	653	+	Breast(36;2.4e-06)		101			Cytoplasmic (Potential).		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.303C>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110813	0.77210	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.32515	1.45;1.45	5.41	5.41	0.78517	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.66506	2.035	0.52501	D	0.999955	D	0.69078	0.997	D	0.74348	0.983	T	0.53472	-0.8434	10	0.72032	D	0.01	.	12.533	0.56126	0.0:0.9237:0.0:0.0763	.	101	Q9ULS6	KCNS2_HUMAN	L	101	ENSP00000287042:F101L;ENSP00000430712:F101L	ENSP00000287042:F101L	F	+	3	2	KCNS2	99509686	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.051000	0.71072	2.527000	0.85204	0.563000	0.77884	TTC		0.537	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1		NM_020697		38	122	1	0	1.62957e-23	0.00874	1.69344e-23	38	122		
RIMS2	9699	broad.mit.edu	37	8	104987673	104987673	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:104987673C>G	ENST00000436393.2	+	14	2441	c.2200C>G	c.(2200-2202)Cat>Gat	p.H734D	RIMS2_ENST00000262231.10_Missense_Mutation_p.H795D|RIMS2_ENST00000507740.1_Missense_Mutation_p.H748D|RIMS2_ENST00000406091.3_Missense_Mutation_p.H956D			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1018	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.H1023D(1)|p.H956D(1)|p.H748D(1)|p.H734D(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGGTCTCCTCATCGAGTAGA	0.418										HNSCC(12;0.0054)																												uc003yls.2		NaN																	4	Substitution - Missense(4)		urinary_tract(4)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2200-2202)CAT>GAT		regulating synaptic membrane exocytosis 2							106.0	104.0	104.0					8																	104987673		1919	4126	6045	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104987673C>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2200C>G	8.37:g.104987673C>G	ENSP00000390665:p.His734Asp	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.H956D|RIMS2_uc003ylw.2_Missense_Mutation_p.H748D|RIMS2_uc003ylq.2_Missense_Mutation_p.H748D|RIMS2_uc003ylr.2_Missense_Mutation_p.H795D|RIMS2_uc003ylt.2_Missense_Mutation_p.H341D	p.H734D	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2441	+			1018					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2200C>G		.	.	.	.	.	.	.	.	.	.	C	21.2	4.115604	0.77323	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.20881	2.04;2.43;2.24;2.22;2.14;2.65	4.98	4.98	0.66077	.	.	.	.	.	T	0.45155	0.1328	L	0.57536	1.79	0.80722	D	1	D;P;D;D;D;D	0.65815	0.995;0.943;0.982;0.994;0.984;0.984	D;P;D;D;D;D	0.79108	0.992;0.844;0.962;0.983;0.964;0.964	T	0.40515	-0.9559	9	0.72032	D	0.01	.	18.6146	0.91297	0.0:1.0:0.0:0.0	.	1018;1018;734;795;748;956	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	D	956;971;956;1018;795;748;748;734	ENSP00000427018:H956D;ENSP00000384892:H956D;ENSP00000262231:H795D;ENSP00000423559:H748D;ENSP00000386228:H748D;ENSP00000390665:H734D	ENSP00000262231:H795D	H	+	1	0	RIMS2	105056849	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.586000	0.67503	2.474000	0.83562	0.561000	0.74099	CAT		0.418	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1		NM_001100117		14	64	0	0	0	0.004007	0	14	64		
UTP23	84294	broad.mit.edu	37	8	117782565	117782565	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:117782565T>C	ENST00000309822.2	+	2	424	c.323T>C	c.(322-324)gTt>gCt	p.V108A	UTP23_ENST00000520733.1_Missense_Mutation_p.V2A|UTP23_ENST00000357148.3_Missense_Mutation_p.V108A|UTP23_ENST00000517820.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	108					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.V108A(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CTTTCCATGGTTGAAGAGGGA	0.373																																						uc003yoc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(322-324)GTT>GCT		UTP23, small subunit (SSU) processome component,							125.0	115.0	118.0					8																	117782565		2203	4300	6503	SO:0001583	missense	84294				rRNA processing	nucleolus		g.chr8:117782565T>C		CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 53"""	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.323T>C	8.37:g.117782565T>C	ENSP00000308332:p.Val108Ala						p.V108A	NM_032334	NP_115710	Q9BRU9	UTP23_HUMAN			2	424	+			108					B2RE25|Q96NJ8	Missense_Mutation	SNP	ENST00000309822.2	37	c.323T>C	CCDS6320.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.490165	0.44249	.	.	ENSG00000147679	ENST00000309822;ENST00000357148;ENST00000517814;ENST00000520733	T	0.35421	1.31	5.9	4.75	0.60458	.	0.529435	0.21655	N	0.071112	T	0.34454	0.0898	L	0.55213	1.73	0.31848	N	0.622545	B	0.15930	0.015	B	0.27715	0.082	T	0.40156	-0.9578	10	0.48119	T	0.1	-3.4916	8.0187	0.30395	0.0:0.2142:0.0:0.7858	.	108	Q9BRU9	UTP23_HUMAN	A	108;108;108;2	ENSP00000308332:V108A	ENSP00000308332:V108A	V	+	2	0	UTP23	117851746	1.000000	0.71417	0.931000	0.37212	0.933000	0.57130	3.825000	0.55730	1.067000	0.40740	0.528000	0.53228	GTT		0.373	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1		NM_032334		26	154	0	0	0	0.007291	0	26	154		
FER1L6	654463	broad.mit.edu	37	8	125052230	125052230	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:125052230C>T	ENST00000522917.1	+	20	2778	c.2572C>T	c.(2572-2574)Cac>Tac	p.H858Y	FER1L6_ENST00000399018.1_Missense_Mutation_p.H858Y|RP11-959I15.4_ENST00000522005.1_RNA|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	858	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)		p.H858Y(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTTCCTTTCTCACTGCCAGAC	0.522																																						uc003yqw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(2572-2574)CAC>TAC		fer-1-like 6							88.0	91.0	90.0					8																	125052230		2034	4194	6228	SO:0001583	missense	654463					integral to membrane		g.chr8:125052230C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2572C>T	8.37:g.125052230C>T	ENSP00000428280:p.His858Tyr					uc003yqx.1_Intron	p.H858Y	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		20	2778	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		858			Cytoplasmic (Potential).|C2 3.			Missense_Mutation	SNP	ENST00000522917.1	37	c.2572C>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675819	0.67928	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.69306	-0.39;-0.39	5.54	5.54	0.83059	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.126066	0.52532	U	0.000068	T	0.72630	0.3484	L	0.47078	1.49	0.58432	D	0.999993	P	0.47910	0.902	P	0.54270	0.747	T	0.68985	-0.5265	10	0.32370	T	0.25	.	18.2567	0.90022	0.0:1.0:0.0:0.0	.	858	Q2WGJ9	FR1L6_HUMAN	Y	858	ENSP00000428280:H858Y;ENSP00000381982:H858Y	ENSP00000381982:H858Y	H	+	1	0	FER1L6	125121411	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.649000	0.67936	2.590000	0.87494	0.563000	0.77884	CAC		0.522	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1		NM_001039112		24	127	0	0	0	0.004656	0	24	127		
FAM83H	286077	broad.mit.edu	37	8	144808291	144808291	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:144808291C>T	ENST00000388913.3	-	5	3465	c.3340G>A	c.(3340-3342)Gag>Aag	p.E1114K		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1114					biomineral tissue development (GO:0031214)			p.E1114K(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCGCGCTCCTCCGCGCTGGCT	0.652																																						uc003yzk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(3340-3342)GAG>AAG		FAM83H							10.0	12.0	12.0					8																	144808291		1967	4121	6088	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808291C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3340G>A	8.37:g.144808291C>T	ENSP00000373565:p.Glu1114Lys					FAM83H_uc010mfk.1_RNA	p.E1114K	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3409	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1114					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.3340G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	27.4	4.829980	0.91036	.	.	ENSG00000180921	ENST00000388913	T	0.16457	2.34	4.96	4.96	0.65561	.	0.000000	0.47093	U	0.000254	T	0.14056	0.0340	L	0.32530	0.975	0.37018	D	0.896072	P	0.38922	0.651	B	0.32980	0.156	T	0.13335	-1.0513	10	0.33940	T	0.23	.	17.1822	0.86858	0.0:1.0:0.0:0.0	.	1114	Q6ZRV2	FA83H_HUMAN	K	1114	ENSP00000373565:E1114K	ENSP00000373565:E1114K	E	-	1	0	FAM83H	144880279	1.000000	0.71417	0.636000	0.29352	0.886000	0.51366	6.174000	0.71943	2.304000	0.77564	0.556000	0.70494	GAG		0.652	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2		NM_198488		3	14	0	0	0	0.001168	0	3	14		
BNC2	54796	broad.mit.edu	37	9	16435866	16435866	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:16435866C>A	ENST00000380672.4	-	6	2383	c.2326G>T	c.(2326-2328)Gaa>Taa	p.E776*	BNC2_ENST00000380666.2_Nonsense_Mutation_p.E776*|BNC2_ENST00000380667.2_Nonsense_Mutation_p.E709*|BNC2_ENST00000545497.1_Nonsense_Mutation_p.E681*	NM_017637.5	NP_060107.3			basonuclin 2									p.E776*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTAAATTCTTCCTTCACCTTG	0.498																																						uc003zml.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(2326-2328)GAA>TAA		basonuclin 2							116.0	95.0	102.0					9																	16435866		2203	4300	6503	SO:0001587	stop_gained	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16435866C>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2326G>T	9.37:g.16435866C>A	ENSP00000370047:p.Glu776*					BNC2_uc011lmw.1_Nonsense_Mutation_p.E681*|BNC2_uc003zmm.2_Nonsense_Mutation_p.E734*|BNC2_uc003zmq.1_Nonsense_Mutation_p.E790*|BNC2_uc003zmr.1_Nonsense_Mutation_p.E813*|BNC2_uc003zmp.1_Nonsense_Mutation_p.E804*|BNC2_uc010mij.1_Nonsense_Mutation_p.E698*|BNC2_uc011lmv.1_Nonsense_Mutation_p.E602*|BNC2_uc003zmo.1_Nonsense_Mutation_p.E698*|BNC2_uc003zmj.2_Nonsense_Mutation_p.E541*|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Nonsense_Mutation_p.E541*|BNC2_uc003zmn.1_Nonsense_Mutation_p.E541*	p.E776*	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	2466	-			776						Nonsense_Mutation	SNP	ENST00000380672.4	37	c.2326G>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	40	8.286404	0.98742	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-14.924	19.8677	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	X	776;169;733;709;681;602;776;776	.	ENSP00000370041:E776X	E	-	1	0	BNC2	16425866	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.985000	0.70556	2.709000	0.92574	0.655000	0.94253	GAA		0.498	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5		NM_017637		22	57	1	0	3.62473e-10	0.012319	3.71685e-10	22	57		
TPM2	7169	broad.mit.edu	37	9	35689748	35689748	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:35689748C>T	ENST00000360958.2	-	1	171	c.67G>A	c.(67-69)Gag>Aag	p.E23K	TPM2_ENST00000378292.3_Missense_Mutation_p.E23K|TPM2_ENST00000378300.5_Missense_Mutation_p.E23K|TPM2_ENST00000329305.2_Missense_Mutation_p.E23K	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	23					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.E23K(2)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCGGCCTGCTCGGCGCGGTCG	0.677																																						uc003zxq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(67-69)GAG>AAG		tropomyosin 2 (beta) isoform 2							182.0	176.0	178.0					9																	35689748		2203	4300	6503	SO:0001583	missense	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35689748C>T		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.67G>A	9.37:g.35689748C>T	ENSP00000354219:p.Glu23Lys					TPM2_uc003zxr.2_Missense_Mutation_p.E23K|TPM2_uc003zxs.2_Missense_Mutation_p.E23K|TPM2_uc010mkz.2_Missense_Mutation_p.E23K|TPM2_uc011lpa.1_Missense_Mutation_p.E23K	p.E23K	NM_213674	NP_998839	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		1	306	-	all_epithelial(49;0.121)		23			By similarity.		A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	ENST00000360958.2	37	c.67G>A	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743338	0.96873	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	4.62	4.62	0.57501	.	.	.	.	.	D	0.95971	0.8688	M	0.92833	3.35	0.54753	D	0.999983	D;P;P;D;D	0.71674	0.983;0.881;0.873;0.995;0.998	P;P;B;P;D	0.64042	0.874;0.639;0.307;0.835;0.921	D	0.96942	0.9688	9	0.72032	D	0.01	-7.2648	16.185	0.81946	0.0:1.0:0.0:0.0	.	23;23;23;23;23	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	K	23	ENSP00000367550:E23K;ENSP00000367542:E23K;ENSP00000367541:E23K;ENSP00000354219:E23K	ENSP00000367541:E23K	E	-	1	0	TPM2	35679748	1.000000	0.71417	0.968000	0.41197	0.991000	0.79684	7.567000	0.82357	2.384000	0.81235	0.561000	0.74099	GAG		0.677	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1		NM_003289		55	193	0	0	0	0.01441	0	55	193		
GBA2	57704	broad.mit.edu	37	9	35736618	35736618	+	IGR	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:35736618C>G	ENST00000378103.3	-	0	3611				CREB3_ENST00000353704.2_Silent_p.L337L|GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.L337L(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGAGCCTCTCTGCCGAGGTC	0.587											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zxv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1009-1011)CTC>CTG		cAMP responsive element binding protein 3							136.0	135.0	135.0					9																	35736618		2203	4300	6503	SO:0001628	intergenic_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity	g.chr9:35736618C>G	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736618C>G			OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	CREB3_uc010mla.2_Silent_p.L256L	p.L337L	NM_006368	NP_006359	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	9	1464	+	all_epithelial(49;0.167)		361			Lumenal (Potential).|Pro-rich.		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	c.1011C>G	CCDS6589.1																																																																																				0.587	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1		NM_020944		54	267	0	0	0	0.01441	0	54	267		
AGTPBP1	23287	broad.mit.edu	37	9	88190360	88190360	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:88190360C>T	ENST00000357081.3	-	25	3517	c.3373G>A	c.(3373-3375)Gag>Aag	p.E1125K	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.E1137K|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.E1085K|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1125					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E1085K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCTCCCATCTCTTCCAGTTCT	0.363																																						uc011ltd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(3373-3375)GAG>AAG		ATP/GTP binding protein 1							88.0	94.0	92.0					9																	88190360		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88190360C>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3373G>A	9.37:g.88190360C>T	ENSP00000349592:p.Glu1125Lys					AGTPBP1_uc004aod.3_Missense_Mutation_p.E751K|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.E1085K|AGTPBP1_uc011lte.1_Missense_Mutation_p.E1137K	p.E1125K	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			24	3406	-			1125					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.3373G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.626998	0.96671	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.22743	1.95;1.96;1.94	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	M	0.72576	2.205	0.80722	D	1	P;D;D	0.89917	0.699;0.999;1.0	B;D;D	0.78314	0.413;0.988;0.991	T	0.21042	-1.0257	10	0.44086	T	0.13	-21.3248	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1137;1125;1085	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	K	1125;1085;1137	ENSP00000349592:E1125K;ENSP00000365251:E1085K;ENSP00000365277:E1137K	ENSP00000349592:E1125K	E	-	1	0	AGTPBP1	87380180	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.498000	0.81546	2.885000	0.99019	0.655000	0.94253	GAG		0.363	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1		NM_015239		30	84	0	0	0	0.013726	0	30	84		
PTPDC1	138639	broad.mit.edu	37	9	96847533	96847533	+	Splice_Site	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:96847533G>C	ENST00000375360.3	+	3	423	c.83G>C	c.(82-84)gGa>gCa	p.G28A	PTPDC1_ENST00000288976.3_Splice_Site_p.R80T	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	28					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R80T(1)|p.G28A(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TATGTTCTAGGAAATTTAGAA	0.408																																						uc004auf.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(82-84)GGA>GCA		protein tyrosine phosphatase domain containing 1							73.0	67.0	69.0					9																	96847533		2203	4300	6503	SO:0001630	splice_region_variant	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96847533G>C	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.83-1G>C	9.37:g.96847533G>C						PTPDC1_uc004aug.1_Missense_Mutation_p.G28A|PTPDC1_uc004auh.1_Missense_Mutation_p.R80T|PTPDC1_uc010mrj.1_Missense_Mutation_p.G82A|PTPDC1_uc010mri.1_Missense_Mutation_p.R80T	p.G28A	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN			3	423	+			28					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.83G>C	CCDS6707.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	5.956|5.956	0.360397|0.360397	0.11296|0.11296	.|.	.|.	ENSG00000158079|ENSG00000158079	ENST00000375360|ENST00000288976	T|T	0.10668|0.11930	2.85|2.73	5.51|5.51	3.66|3.66	0.41972|0.41972	.|.	.|0.789063	.|0.12094	.|N	.|0.500106	T|T	0.11067|0.11067	0.0270|0.0270	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;B;B|B	0.13145|0.33612	0.007;0.007;0.003|0.419	B;B;B|B	0.11329|0.37239	0.006;0.004;0.004|0.244	T|T	0.17868|0.17868	-1.0355|-1.0355	8|9	.|.	.|.	.|.	.|.	9.154|9.154	0.36980|0.36980	0.17:0.0:0.83:0.0|0.17:0.0:0.83:0.0	.|.	82;82;28|80	E7EN59;A8K0X7;A2A3K4|A2A3K4-2	.;.;PTPC1_HUMAN|.	A|T	28|80	ENSP00000364509:G28A|ENSP00000288976:R80T	.|.	G|R	+|+	2|2	0|0	PTPDC1|PTPDC1	95887354|95887354	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.344000|0.344000	0.29017|0.29017	3.420000|3.420000	0.52735|0.52735	0.796000|0.796000	0.33947|0.33947	-0.218000|-0.218000	0.12543|0.12543	GGA|AGA		0.408	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1		NM_177995, NM_152422	Missense_Mutation	16	64	0	0	0	0.006122	0	16	64		
PTCH1	5727	broad.mit.edu	37	9	98232132	98232132	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:98232132C>G	ENST00000331920.6	-	13	2109	c.1810G>C	c.(1810-1812)Gag>Cag	p.E604Q	PTCH1_ENST00000375274.2_Missense_Mutation_p.E603Q|PTCH1_ENST00000418258.1_Missense_Mutation_p.E453Q|PTCH1_ENST00000430669.2_Missense_Mutation_p.E538Q|PTCH1_ENST00000421141.1_Missense_Mutation_p.E453Q|PTCH1_ENST00000437951.1_Missense_Mutation_p.E538Q|PTCH1_ENST00000429896.2_Missense_Mutation_p.E453Q	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	604					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.E604Q(2)|p.E603Q(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTCCTGTCCTCGCGTCGATAT	0.438																																						uc004avk.3		NaN																	4	Substitution - Missense(4)		urinary_tract(4)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(1810-1812)GAG>CAG		patched isoform L							152.0	147.0	149.0					9																	98232132		2203	4300	6503	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98232132C>G	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1810G>C	9.37:g.98232132C>G	ENSP00000332353:p.Glu604Gln					PTCH1_uc010mro.2_Missense_Mutation_p.E453Q|PTCH1_uc010mrp.2_Missense_Mutation_p.E453Q|PTCH1_uc010mrq.2_Missense_Mutation_p.E453Q|PTCH1_uc004avl.3_Missense_Mutation_p.E453Q|PTCH1_uc010mrr.2_Missense_Mutation_p.E538Q|PTCH1_uc004avm.3_Missense_Mutation_p.E603Q|PTCH1_uc010mrs.1_Missense_Mutation_p.E272Q	p.E604Q	NM_000264	NP_000255	Q13635	PTC1_HUMAN			13	1998	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	604			Cytoplasmic (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.1810G>C	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841175	0.91197	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88;-3.88;-3.88;-3.88;-3.88	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.96408	0.8828	L	0.54323	1.7	0.80722	D	1	P;B;B;B	0.49635	0.926;0.059;0.16;0.166	P;B;B;B	0.57324	0.818;0.108;0.155;0.175	D	0.95929	0.8937	10	0.46703	T	0.11	-29.0714	18.9121	0.92490	0.0:1.0:0.0:0.0	.	453;538;603;604	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	Q	604;538;453;453;40;538;453;603;269	ENSP00000332353:E604Q;ENSP00000389744:E538Q;ENSP00000399981:E453Q;ENSP00000396135:E453Q;ENSP00000410287:E538Q;ENSP00000414823:E453Q;ENSP00000364423:E603Q;ENSP00000364420:E269Q	ENSP00000332353:E604Q	E	-	1	0	PTCH1	97271953	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.317000	0.79018	2.686000	0.91538	0.650000	0.86243	GAG		0.438	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2		NM_000264		46	158	0	0	0	0.011902	0	46	158		
ERCC6L2	375748	broad.mit.edu	37	9	98691087	98691087	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:98691087C>G	ENST00000288985.7	+	11	2030	c.1725C>G	c.(1723-1725)ctC>ctG	p.L575L	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Silent_p.L386L	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	575	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.L575L(1)									AGGAAAGACTCAAGATTGTAA	0.368																																						uc004avt.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1723-1725)CTC>CTG		RAD26L hypothetical protein							128.0	117.0	121.0					9																	98691087		2203	4300	6503	SO:0001819	synonymous_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98691087C>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.1725C>G	9.37:g.98691087C>G						C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.L277L|C9orf102_uc010mry.1_Silent_p.L277L|C9orf102_uc010mrz.2_Silent_p.L386L|C9orf102_uc004avu.2_5'UTR	p.L575L	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN			11	2113	+		Acute lymphoblastic leukemia(62;0.0559)	575			Helicase C-terminal.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Silent	SNP	ENST00000288985.7	37	c.1725C>G	CCDS35072.1																																																																																				0.368	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2		NM_001010895		22	102	0	0	0	0.014323	0	22	102		
COL15A1	1306	broad.mit.edu	37	9	101825366	101825366	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:101825366C>G	ENST00000375001.3	+	39	4049	c.3626C>G	c.(3625-3627)tCa>tGa	p.S1209*		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1209	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.S1209*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AACCCTATTTCAAGTGCCAAT	0.373																																						uc004azb.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(6)	6						c.(3625-3627)TCA>TGA		alpha 1 type XV collagen precursor							119.0	108.0	112.0					9																	101825366		2203	4300	6503	SO:0001587	stop_gained	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101825366C>G	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3626C>G	9.37:g.101825366C>G	ENSP00000364140:p.Ser1209*						p.S1209*	NM_001855	NP_001846	P39059	COFA1_HUMAN			39	3832	+		Acute lymphoblastic leukemia(62;0.0562)	1209			Nonhelical region 10 (NC10).		Q5T6J4|Q9UDC5|Q9Y4W4	Nonsense_Mutation	SNP	ENST00000375001.3	37	c.3626C>G	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	41	8.826952	0.98968	.	.	ENSG00000204291	ENST00000375001	.	.	.	5.8	2.21	0.28008	.	0.562508	0.18206	N	0.148327	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-0.636	6.3634	0.21441	0.0:0.5103:0.0:0.4897	.	.	.	.	X	1209	.	ENSP00000364140:S1209X	S	+	2	0	COL15A1	100865187	0.994000	0.37717	0.103000	0.21229	0.159000	0.22180	0.880000	0.28159	0.293000	0.22520	0.655000	0.94253	TCA		0.373	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3		NM_001855		15	53	0	0	0	0.008871	0	15	53		
ZNF462	58499	broad.mit.edu	37	9	109687655	109687655	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:109687655C>T	ENST00000277225.5	+	3	1751	c.1462C>T	c.(1462-1464)Cac>Tac	p.H488Y	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.H488Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	488					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H488Y(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACTTGGGGCTCACAAACAGTG	0.448																																						uc004bcz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)	5						c.(1462-1464)CAC>TAC		zinc finger protein 462							101.0	92.0	95.0					9																	109687655		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109687655C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1462C>T	9.37:g.109687655C>T	ENSP00000277225:p.His488Tyr					ZNF462_uc010mto.2_Missense_Mutation_p.H336Y|ZNF462_uc004bda.2_Missense_Mutation_p.H336Y	p.H488Y	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	1751	+			488			C2H2-type 5.		Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.1462C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090253	0.55968	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.41065	1.01;1.79	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.66694	0.2815	M	0.77103	2.36	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.78314	0.991;0.979	T	0.66689	-0.5860	9	.	.	.	.	17.9955	0.89182	0.0:1.0:0.0:0.0	.	488;488	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	Y	488	ENSP00000277225:H488Y;ENSP00000414570:H488Y	.	H	+	1	0	ZNF462	108727476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.411000	0.80078	2.681000	0.91329	0.561000	0.74099	CAC		0.448	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2		NM_021224		19	76	0	0	0	0.008871	0	19	76		
CTNNAL1	8727	broad.mit.edu	37	9	111741738	111741738	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:111741738C>T	ENST00000325551.4	-	7	1010	c.924G>A	c.(922-924)gaG>gaA	p.E308E	CTNNAL1_ENST00000325580.6_Silent_p.E308E|CTNNAL1_ENST00000488130.1_5'Flank|CTNNAL1_ENST00000374595.4_Silent_p.E308E	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	308					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.E308E(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AATAAAGATTCTCCCGAAGAG	0.418																																						uc004bdo.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(922-924)GAG>GAA		catenin, alpha-like 1							83.0	78.0	80.0					9																	111741738		2203	4300	6503	SO:0001819	synonymous_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111741738C>T	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.924G>A	9.37:g.111741738C>T						CTNNAL1_uc010mts.1_Silent_p.E44E|CTNNAL1_uc010mtt.1_Silent_p.E308E|CTNNAL1_uc004bdp.1_Silent_p.E308E	p.E308E	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	7	966	-			308					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.924G>A	CCDS6775.1																																																																																				0.418	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1		NM_003798		9	30	0	0	0	0.004482	0	9	30		
SVEP1	79987	broad.mit.edu	37	9	113231341	113231341	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:113231341G>C	ENST00000401783.2	-	17	3375	c.3039C>G	c.(3037-3039)ttC>ttG	p.F1013L	SVEP1_ENST00000374469.1_Missense_Mutation_p.F990L|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.F1013L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1013					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.F1013L(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						TTTCACAGGTGAAATGTTCCA	0.438																																						uc010mtz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)	7						c.(3037-3039)TTC>TTG		polydom							81.0	78.0	79.0					9																	113231341		1836	4073	5909	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113231341G>C	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.3039C>G	9.37:g.113231341G>C	ENSP00000384917:p.Phe1013Leu					SVEP1_uc010mua.1_Missense_Mutation_p.F1013L	p.F1013L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			17	3376	-			1013					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.3039C>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	2.357	-0.347444	0.05208	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.14893	2.47;2.47;2.47	5.91	-2.33	0.06724	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.718157	0.14614	N	0.308835	T	0.06096	0.0158	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31364	-0.9946	10	0.39692	T	0.17	.	7.3917	0.26913	0.5178:0.0:0.3782:0.104	.	1013;1013	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	L	1013;990;1013	ENSP00000384917:F1013L;ENSP00000363593:F990L;ENSP00000304118:F1013L	ENSP00000304118:F1013L	F	-	3	2	SVEP1	112271162	0.022000	0.18835	0.029000	0.17559	0.173000	0.22820	0.419000	0.21247	-0.305000	0.08831	-0.140000	0.14226	TTC		0.438	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					17	79	0	0	0	0.006122	0	17	79		
SVEP1	79987	broad.mit.edu	37	9	113312147	113312147	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:113312147G>A	ENST00000401783.2	-	2	1105	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C	SVEP1_ENST00000374469.1_Missense_Mutation_p.R234C|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.R257C|SVEP1_ENST00000374461.1_Missense_Mutation_p.R234C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	257	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.R257C(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						AATGCCCGGCGAGCTAAAGCC	0.478																																						uc010mtz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)	7						c.(769-771)CGC>TGC		polydom							63.0	59.0	61.0					9																	113312147		1915	4122	6037	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113312147G>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.769C>T	9.37:g.113312147G>A	ENSP00000384917:p.Arg257Cys					SVEP1_uc010mua.1_Missense_Mutation_p.R257C|SVEP1_uc004beu.2_Missense_Mutation_p.R257C|SVEP1_uc004bev.2_5'UTR	p.R257C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			2	1106	-			257			VWFA.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.769C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690669	0.88735	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.38	5.38	0.77491	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	D	0.89150	0.6633	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.91;0.95;0.998	D	0.90055	0.4152	10	0.87932	D	0	.	19.497	0.95077	0.0:0.0:1.0:0.0	.	257;257;257	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	C	257;234;257;234	ENSP00000384917:R257C;ENSP00000363593:R234C;ENSP00000304118:R257C;ENSP00000363585:R234C	ENSP00000304118:R257C	R	-	1	0	SVEP1	112351968	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.420000	0.97426	2.677000	0.91161	0.563000	0.77884	CGC		0.478	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					6	21	0	0	0	0.001168	0	6	21		
BSPRY	54836	broad.mit.edu	37	9	116131969	116131969	+	Silent	SNP	G	G	A	rs370425380		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:116131969G>A	ENST00000374183.4	+	6	795	c.756G>A	c.(754-756)ctG>ctA	p.L252L	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	252	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.L252L(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GAAAGACCCTGACCTTCAGCA	0.567																																						uc004bhg.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(1)	1						c.(754-756)CTG>CTA		B-box and SPRY domain containing							64.0	67.0	66.0					9																	116131969		2025	4180	6205	SO:0001819	synonymous_variant	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116131969G>A	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.756G>A	9.37:g.116131969G>A						BSPRY_uc010muw.2_3'UTR	p.L252L	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN			6	804	+			252			B30.2/SPRY.		B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Silent	SNP	ENST00000374183.4	37	c.756G>A	CCDS43868.1																																																																																				0.567	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1		NM_017688		30	93	0	0	0	0.009535	0	30	93		
SCAI	286205	broad.mit.edu	37	9	127764247	127764247	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:127764247C>T	ENST00000336505.6	-	12	1199	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	SCAI_ENST00000373549.4_Missense_Mutation_p.E404K|SCAI_ENST00000487795.1_5'UTR	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	381					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.E404K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						ATTGTACCTTCACTATCAGAA	0.473																																						uc004bpe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(1141-1143)GAA>AAA		suppressor of cancer cell invasion isoform 2							128.0	122.0	124.0					9																	127764247		1898	4133	6031	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127764247C>T	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1141G>A	9.37:g.127764247C>T	ENSP00000336756:p.Glu381Lys					SCAI_uc004bpd.2_Missense_Mutation_p.E404K|SCAI_uc010mwu.2_RNA	p.E381K	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN			12	1222	-			381					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.1141G>A	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145662	0.94603	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.44482	0.92;0.92	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.61697	0.979;0.99	D;D	0.74023	0.982;0.979	T	0.53049	-0.8493	10	0.33940	T	0.23	.	19.1218	0.93365	0.0:1.0:0.0:0.0	.	381;404	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	K	381;404	ENSP00000336756:E381K;ENSP00000362650:E404K	ENSP00000336756:E381K	E	-	1	0	SCAI	126804068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.767000	0.95098	0.591000	0.81541	GAA		0.473	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3		NM_173690		46	158	0	0	0	0.01441	0	46	158		
GAPVD1	26130	broad.mit.edu	37	9	128111713	128111713	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:128111713G>A	ENST00000495955.1	+	21	3558	c.3268G>A	c.(3268-3270)Gaa>Aaa	p.E1090K	GAPVD1_ENST00000312123.9_Missense_Mutation_p.E1051K|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E1099K|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E1072K|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E1090K|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E1064K|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E1024K|GAPVD1_ENST00000470056.1_Missense_Mutation_p.E1045K			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1090					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E1099K(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCCCCGTGACGAAGCACTGCA	0.478																																						uc010mwx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3268-3270)GAA>AAA		GTPase activating protein and VPS9 domains 1							186.0	175.0	178.0					9																	128111713		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128111713G>A		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3268G>A	9.37:g.128111713G>A	ENSP00000419063:p.Glu1090Lys					GAPVD1_uc004bpp.2_Missense_Mutation_p.E1099K|GAPVD1_uc004bpq.2_Missense_Mutation_p.E1072K|GAPVD1_uc004bpr.2_Missense_Mutation_p.E1051K|GAPVD1_uc004bps.2_Missense_Mutation_p.E1045K|GAPVD1_uc004bpt.2_Missense_Mutation_p.E105K	p.E1090K	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			21	3594	+			1090					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.3268G>A		.	.	.	.	.	.	.	.	.	.	G	16.91	3.251519	0.59212	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123	T;T;T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39;2.39;2.39	5.69	5.69	0.88448	.	0.247099	0.46442	D	0.000299	T	0.15132	0.0365	L	0.43152	1.355	0.80722	D	1	B;B;P;P;P;P	0.40332	0.378;0.429;0.512;0.512;0.512;0.713	B;B;B;B;B;B	0.27608	0.024;0.039;0.054;0.054;0.054;0.081	T	0.02625	-1.1132	10	0.40728	T	0.16	.	18.7991	0.92008	0.0:0.0:1.0:0.0	.	1090;105;1045;1051;1072;1099	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	K	1045;1099;1090;1064;1024;1090;1072;1051	ENSP00000419767:E1045K;ENSP00000377665:E1099K;ENSP00000377664:E1090K;ENSP00000265956:E1064K;ENSP00000377645:E1024K;ENSP00000419063:E1090K;ENSP00000297933:E1072K;ENSP00000309582:E1051K	ENSP00000265956:E1064K	E	+	1	0	GAPVD1	127151534	1.000000	0.71417	0.320000	0.25306	0.440000	0.31957	9.380000	0.97202	2.691000	0.91804	0.591000	0.81541	GAA		0.478	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1				38	118	0	0	0	0.005524	0	38	118		
ST6GALNAC6	30815	broad.mit.edu	37	9	130652994	130652994	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:130652994T>C	ENST00000373146.1	-	5	805	c.626A>G	c.(625-627)aAc>aGc	p.N209S	ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.N209S|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.N175S|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.N175S|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.N209S|ST6GALNAC6_ENST00000542456.1_Intron			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	209					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.N209S(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCTTCCATGTTGGGGAACAC	0.642																																						uc004bso.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(625-627)AAC>AGC		sialytransferase 7F							49.0	52.0	51.0					9																	130652994		2203	4300	6503	SO:0001583	missense	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130652994T>C	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.626A>G	9.37:g.130652994T>C	ENSP00000362239:p.Asn209Ser					ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.N175S|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.N209S|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.N175S|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.N175S|ST6GALNAC6_uc010mxp.1_RNA	p.N209S	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN			5	745	-			209			Lumenal (Potential).		B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	ENST00000373146.1	37	c.626A>G	CCDS6882.1	.	.	.	.	.	.	.	.	.	.	T	9.117	1.007994	0.19199	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	5.71	1.94	0.25998	.	0.222036	0.52532	N	0.000069	T	0.31167	0.0788	M	0.73962	2.25	0.80722	D	1	B;B	0.16802	0.008;0.019	B;B	0.29176	0.06;0.099	T	0.05599	-1.0875	10	0.27785	T	0.31	-12.0606	6.2294	0.20726	0.0:0.1462:0.1356:0.7182	.	175;209	Q969X2-2;Q969X2	.;SIA7F_HUMAN	S	209;175;209;175;209;175	ENSP00000362239:N209S;ENSP00000362234:N175S;ENSP00000362235:N209S;ENSP00000362237:N175S;ENSP00000291839:N209S;ENSP00000405326:N175S	ENSP00000291839:N209S	N	-	2	0	ST6GALNAC6	129692815	1.000000	0.71417	0.302000	0.25058	0.128000	0.20619	1.198000	0.32223	0.078000	0.16900	0.533000	0.62120	AAC		0.642	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1		NM_013443		15	76	0	0	0	0.007413	0	15	76		
NAIF1	203245	broad.mit.edu	37	9	130829327	130829327	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:130829327C>T	ENST00000373078.4	-	1	273	c.54G>A	c.(52-54)gaG>gaA	p.E18E	SLC25A25_ENST00000373068.2_5'Flank|SLC25A25_ENST00000373069.5_5'Flank|NAIF1_ENST00000488519.1_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	18	Required for nuclear localization and apoptosis-inducing activity.				negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E18E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCACGATGATCTCCACCTCCC	0.577																																						uc004bta.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(52-54)GAG>GAA		nuclear apoptosis inducing factor 1							119.0	120.0	120.0					9																	130829327		2203	4300	6503	SO:0001819	synonymous_variant	203245				apoptosis|induction of apoptosis	nucleus		g.chr9:130829327C>T	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.54G>A	9.37:g.130829327C>T						NAIF1_uc004bsz.2_RNA|SLC25A25_uc004btb.2_5'Flank	p.E18E	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN			1	273	-			18			Required for nuclear localization and apoptosis-inducing activity.		B3KV81|Q8WU12	Silent	SNP	ENST00000373078.4	37	c.54G>A	CCDS6889.1																																																																																				0.577	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1		NM_197956		68	240	0	0	0	0.01441	0	68	240		
LCN2	3934	broad.mit.edu	37	9	130914288	130914288	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:130914288C>G	ENST00000373017.1	+	5	696	c.459C>G	c.(457-459)ttC>ttG	p.F153L	LCN2_ENST00000372998.1_Missense_Mutation_p.F155L|LCN2_ENST00000540948.1_Missense_Mutation_p.F153L|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000373013.2_Missense_Mutation_p.F155L|LCN2_ENST00000277480.2_Missense_Mutation_p.F153L			P80188	NGAL_HUMAN	lipocalin 2	153					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|small molecule binding (GO:0036094)|transporter activity (GO:0005215)	p.F153L(1)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						GGGAGTACTTCAAGATCACCC	0.547																																						uc004bto.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(457-459)TTC>TTG		lipocalin 2 precursor							165.0	148.0	154.0					9																	130914288		2203	4300	6503	SO:0001583	missense	3934				apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	g.chr9:130914288C>G		CCDS6892.1	9q34	2011-10-24	2007-12-18		ENSG00000148346	ENSG00000148346		"""Lipocalins"""	6526	protein-coding gene	gene with protein product	"""oncogene 24p3"", ""neutrophil gelatinase-associated lipocalin"", ""siderocalin"""	600181	"""lipocalin 2 (oncogene 24p3)"""			7683678	Standard	NM_005564		Approved	NGAL, 24p3	uc004bto.1	P80188	OTTHUMG00000020734	ENST00000373017.1:c.459C>G	9.37:g.130914288C>G	ENSP00000362108:p.Phe153Leu					LCN2_uc011map.1_Missense_Mutation_p.F153L	p.F153L	NM_005564	NP_005555	P80188	NGAL_HUMAN			4	532	+			153					A6NII8|B4DWV4|B7ZAA2|P30150|Q5SYV9|Q5SYW0|Q6FGL5|Q92683	Missense_Mutation	SNP	ENST00000373017.1	37	c.459C>G	CCDS6892.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669989	0.47677	.	.	ENSG00000148346	ENST00000373017;ENST00000277480;ENST00000373013;ENST00000540948;ENST00000372998	T;T;T;T;T	0.06449	3.3;3.3;3.3;3.3;3.3	4.05	4.05	0.47172	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.537042	0.16283	N	0.221244	T	0.12518	0.0304	L	0.55990	1.75	0.37404	D	0.912984	D;D	0.63046	0.982;0.992	P;P	0.58577	0.62;0.841	T	0.04103	-1.0977	10	0.05436	T	0.98	-2.4381	11.988	0.53159	0.0:1.0:0.0:0.0	.	153;153	P80188-2;P80188	.;NGAL_HUMAN	L	153;153;155;153;155	ENSP00000362108:F153L;ENSP00000277480:F153L;ENSP00000362104:F155L;ENSP00000441666:F153L;ENSP00000362089:F155L	ENSP00000277480:F153L	F	+	3	2	LCN2	129954109	1.000000	0.71417	0.998000	0.56505	0.120000	0.20174	3.613000	0.54152	2.279000	0.76181	0.456000	0.33151	TTC		0.547	LCN2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054375.1		NM_005564		36	155	0	0	0	0.006999	0	36	155		
SPTAN1	6709	broad.mit.edu	37	9	131395126	131395126	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:131395126G>A	ENST00000372731.4	+	55	7295	c.7185G>A	c.(7183-7185)atG>atA	p.M2395I	SPTAN1_ENST00000358161.5_Missense_Mutation_p.M2400I|WDR34_ENST00000483181.1_5'Flank|SPTAN1_ENST00000372739.3_Missense_Mutation_p.M2400I	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2395	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.M2395I(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGGCTTTCATGATCAGCCGCG	0.602																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(5)|ovary(4)|pancreas(1)	10						c.(7183-7185)ATG>ATA		spectrin, alpha, non-erythrocytic 1							97.0	96.0	96.0					9																	131395126		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131395126G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.7185G>A	9.37:g.131395126G>A	ENSP00000361816:p.Met2395Ile					SPTAN1_uc004bvm.3_Missense_Mutation_p.M2400I|SPTAN1_uc004bvn.3_Missense_Mutation_p.M2375I|SPTAN1_uc004bvo.3_Missense_Mutation_p.M162I|SPTAN1_uc004bvp.3_Missense_Mutation_p.M138I	p.M2395I	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			55	7298	+			2395			EF-hand 2.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.7185G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332307	0.81801	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.70631	-0.5;-0.5;-0.5	5.69	5.69	0.88448	EF-hand-like domain (1);	0.041188	0.85682	D	0.000000	D	0.84224	0.5425	M	0.71296	2.17	0.80722	D	1	D;B;B	0.63880	0.993;0.048;0.009	D;B;B	0.73708	0.981;0.016;0.004	D	0.84921	0.0854	10	0.72032	D	0.01	.	19.8052	0.96529	0.0:0.0:1.0:0.0	.	2375;2400;2395	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	I	2400;2395;2400;2375	ENSP00000350882:M2400I;ENSP00000361816:M2395I;ENSP00000361824:M2400I	ENSP00000350882:M2400I	M	+	3	0	SPTAN1	130434947	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.231000	0.95317	2.688000	0.91661	0.561000	0.74099	ATG		0.602	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		32	178	0	0	0	0.003271	0	32	178		
ZER1	10444	broad.mit.edu	37	9	131517773	131517773	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:131517773G>A	ENST00000291900.2	-	2	478	c.72C>T	c.(70-72)acC>acT	p.T24T	ZER1_ENST00000494461.1_Intron	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	24					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)	p.T24T(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GGTAGCCCAGGGTGCCATCCA	0.622																																						uc004bwa.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(70-72)ACC>ACT		zyg-11 homolog B (C. elegans)-like							116.0	94.0	102.0					9																	131517773		2203	4300	6503	SO:0001819	synonymous_variant	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131517773G>A	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.72C>T	9.37:g.131517773G>A							p.T24T	NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN			2	505	-			24					O00156|Q5T272|Q5T273	Silent	SNP	ENST00000291900.2	37	c.72C>T	CCDS6910.1																																																																																				0.622	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1		NM_006336		28	105	0	0	0	0.00632	0	28	105		
DOLK	22845	broad.mit.edu	37	9	131709436	131709436	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:131709436G>C	ENST00000372586.3	-	1	462	c.147C>G	c.(145-147)ctC>ctG	p.L49L	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	49					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)	p.L49L(1)		breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCTGCACTGCGAGGGCCACGG	0.602																																						uc004bwr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(145-147)CTC>CTG		dolichol kinase							78.0	75.0	76.0					9																	131709436		2203	4300	6503	SO:0001819	synonymous_variant	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131709436G>C	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.147C>G	9.37:g.131709436G>C						NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	p.L49L	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN			1	577	-			49			Cytoplasmic (Potential).		Q5SRE6	Silent	SNP	ENST00000372586.3	37	c.147C>G	CCDS6915.1																																																																																				0.602	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1		NM_014908		19	68	0	0	0	0.010504	0	19	68		
NUP188	23511	broad.mit.edu	37	9	131745618	131745618	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:131745618G>A	ENST00000372577.2	+	18	1864	c.1843G>A	c.(1843-1845)Gtc>Atc	p.V615I		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	615					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.V615I(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						TGCTTCTTGTGTCAACTGCTT	0.443																																						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.(1843-1845)GTC>ATC		nucleoporin 188kDa							218.0	203.0	208.0					9																	131745618		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.chr9:131745618G>A	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.1843G>A	9.37:g.131745618G>A	ENSP00000361658:p.Val615Ile					NUP188_uc004bwu.2_5'Flank	p.V615I	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			18	1865	+			615					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.1843G>A	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897802	0.91962	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.64085	-0.08	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	L	0.27053	0.805	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	T	0.67197	-0.5731	10	0.34782	T	0.22	-11.8947	18.5867	0.91192	0.0:0.0:1.0:0.0	.	615	Q5SRE5	NU188_HUMAN	I	504;615	ENSP00000361658:V615I	ENSP00000349125:V504I	V	+	1	0	NUP188	130785439	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.182000	0.94881	2.708000	0.92522	0.563000	0.77884	GTC		0.443	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2				26	129	0	0	0	0.007291	0	26	129		
ASS1	445	broad.mit.edu	37	9	133327632	133327632	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:133327632C>T	ENST00000372394.1	+	3	498	c.17C>T	c.(16-18)tCc>tTc	p.S6F	snoU13_ENST00000458976.1_RNA|ASS1_ENST00000372393.3_Missense_Mutation_p.S6F|ASS1_ENST00000352480.5_Missense_Mutation_p.S6F			P00966	ASSY_HUMAN	argininosuccinate synthase 1	6					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)	p.S6F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	AGCAAAGGCTCCGTGGTTCTG	0.627																																						uc004bzm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(16-18)TCC>TTC		argininosuccinate synthetase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						101.0	91.0	94.0					9																	133327632		2203	4300	6503	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133327632C>T	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.17C>T	9.37:g.133327632C>T	ENSP00000361471:p.Ser6Phe					ASS1_uc004bzn.2_Missense_Mutation_p.S6F|ASS1_uc010mza.2_Missense_Mutation_p.S82F|ASS1_uc004bzo.2_Missense_Mutation_p.S6F|ASS1_uc010mzb.2_Missense_Mutation_p.S44F|ASS1_uc004bzp.2_Missense_Mutation_p.S6F|ASS1_uc010mzc.2_Missense_Mutation_p.S6F	p.S6F	NM_000050	NP_000041	P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	3	373	+			6					Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.17C>T	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062829	0.55432	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000422569;ENST00000443588	D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6	4.95	4.95	0.65309	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.148239	0.43416	U	0.000562	D	0.91476	0.7309	M	0.69358	2.11	0.42943	D	0.994352	P;P;P	0.35908	0.527;0.527;0.527	B;B;B	0.25506	0.061;0.061;0.061	D	0.91765	0.5423	10	0.87932	D	0	.	11.0901	0.48110	0.0:0.9147:0.0:0.0853	.	6;6;6	A8KAP9;Q5T6L4;P00966	.;.;ASSY_HUMAN	F	6	ENSP00000253004:S6F;ENSP00000361471:S6F;ENSP00000361469:S6F;ENSP00000394212:S6F;ENSP00000397785:S6F	ENSP00000361470:S6F	S	+	2	0	ASS1	132317453	0.999000	0.42202	1.000000	0.80357	0.957000	0.61999	4.314000	0.59166	2.429000	0.82318	0.462000	0.41574	TCC		0.627	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1		NM_000050		5	23	0	0	0	0.001855	0	5	23		
LAMC3	10319	broad.mit.edu	37	9	133907468	133907468	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:133907468G>A	ENST00000361069.4	+	3	848	c.715G>A	c.(715-717)Gac>Aac	p.D239N	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	239	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.D239N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CATCTCTCTAGACCGGCTCAA	0.567																																						uc004caa.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(715-717)GAC>AAC		laminin, gamma 3 precursor							152.0	147.0	148.0					9																	133907468		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133907468G>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.715G>A	9.37:g.133907468G>A	ENSP00000354360:p.Asp239Asn						p.D239N	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	3	813	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	239			Laminin N-terminal.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.715G>A	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	3.559	-0.090095	0.07053	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.74947	-0.89	5.18	2.99	0.34606	Laminin, N-terminal (3);	0.105732	0.64402	D	0.000004	T	0.45296	0.1335	N	0.03281	-0.365	0.47778	D	0.999517	B	0.14438	0.01	B	0.26969	0.075	T	0.28808	-1.0032	10	0.07482	T	0.82	.	6.6751	0.23090	0.3516:0.0:0.6484:0.0	.	239	Q9Y6N6	LAMC3_HUMAN	N	239	ENSP00000354360:D239N	ENSP00000325873:D239N	D	+	1	0	LAMC3	132897289	0.953000	0.32496	0.808000	0.32385	0.754000	0.42855	1.485000	0.35519	1.196000	0.43129	-0.244000	0.11960	GAC		0.567	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3		NM_006059		36	207	0	0	0	0.004878	0	36	207		
STKLD1	169436	broad.mit.edu	37	9	136266896	136266896	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:136266896C>T	ENST00000371957.3	+	13	1335	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	C9orf96_ENST00000371955.1_Intron	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		410							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.P410S(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGCCAAGGCTCCCTGCAACCA	0.622																																						uc004cdk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	stomach(2)|central_nervous_system(2)	4						c.(1228-1230)CCC>TCC		hypothetical protein LOC169436							66.0	58.0	61.0					9																	136266896		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136266896C>T																												ENST00000371957.3:c.1228C>T	9.37:g.136266896C>T	ENSP00000361025:p.Pro410Ser					C9orf96_uc004cdl.2_Intron	p.P410S	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	13	1289	+			410					Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.1228C>T	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	C	8.647	0.897255	0.17686	.	.	ENSG00000198870	ENST00000371957	T	0.47177	0.85	3.97	1.02	0.19986	Armadillo-like helical (1);Armadillo-type fold (1);	0.891569	0.09544	N	0.787882	T	0.39253	0.1071	L	0.56769	1.78	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.32771	-0.9894	10	0.37606	T	0.19	-10.343	4.0409	0.09751	0.0:0.5794:0.1966:0.224	.	410	Q8NE28	SGK71_HUMAN	S	410	ENSP00000361025:P410S	ENSP00000361025:P410S	P	+	1	0	C9orf96	135256717	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.730000	0.26043	0.099000	0.17552	0.491000	0.48974	CCC		0.622	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1				14	37	0	0	0	0.001855	0	14	37		
MRPS2	51116	broad.mit.edu	37	9	138395832	138395832	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:138395832C>G	ENST00000371785.1	+	5	953	c.744C>G	c.(742-744)ctC>ctG	p.L248L	RP11-426A6.5_ENST00000415062.1_RNA|C9orf116_ENST00000371791.1_5'Flank|MRPS2_ENST00000241600.5_Silent_p.L248L			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	248					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)	p.L248L(1)		large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CTGTGCACCTCTACTGCAGGC	0.632																																						uc004cfv.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(742-744)CTC>CTG		mitochondrial ribosomal protein S2							92.0	97.0	95.0					9																	138395832		2203	4300	6503	SO:0001819	synonymous_variant	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138395832C>G	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.744C>G	9.37:g.138395832C>G						MRPS2_uc004cfw.3_Silent_p.L158L|MRPS2_uc004cfx.3_Silent_p.L163L|MRPS2_uc010nat.2_Silent_p.L229L|uc004cfy.2_Intron	p.L248L	NM_016034	NP_057118	Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	4	818	+			248					Q5T899|Q9BSQ4	Silent	SNP	ENST00000371785.1	37	c.744C>G	CCDS6990.1																																																																																				0.632	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1				30	113	0	0	0	0.012213	0	30	113		
KCNT1	57582	broad.mit.edu	37	9	138669288	138669288	+	Silent	SNP	C	C	T	rs149452823		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:138669288C>T	ENST00000263604.3	+	21	2397	c.2397C>T	c.(2395-2397)atC>atT	p.I799I	KCNT1_ENST00000487664.1_Silent_p.I773I|KCNT1_ENST00000298480.5_Silent_p.I818I|KCNT1_ENST00000371757.2_Silent_p.I818I|KCNT1_ENST00000488444.2_Silent_p.I799I|KCNT1_ENST00000486577.2_Silent_p.I777I|KCNT1_ENST00000491806.2_Silent_p.I785I|KCNT1_ENST00000490355.2_Silent_p.I797I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	799					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.I818I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACAACTTCATCGTGCCACTGC	0.602																																						uc011mdq.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(2)|ovary(1)|pancreas(1)	4						c.(2452-2454)ATC>ATT		potassium channel, subfamily T, member 1		C		1,4405	2.1+/-5.4	0,1,2202	103.0	86.0	92.0		2454	-1.1	1.0	9	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNT1	NM_020822.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		818/1236	138669288	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138669288C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2397C>T	9.37:g.138669288C>T						KCNT1_uc011mdr.1_Silent_p.I645I|KCNT1_uc010nbf.2_Silent_p.I773I|KCNT1_uc004cgo.1_Silent_p.I567I	p.I818I	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	21	2528	+		Myeloproliferative disorder(178;0.0821)	818					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.2454C>T																																																																																					0.602	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_020822		17	87	0	0	0	0.007413	0	17	87		
TRAF2	7186	broad.mit.edu	37	9	139802612	139802612	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:139802612G>C	ENST00000247668.2	+	5	509	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.E153Q|TRAF2_ENST00000359662.3_Missense_Mutation_p.E205Q	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	153					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E153Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GCGCCACCTGGAGCACGAGTG	0.662																																						uc010nbu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(457-459)GAG>CAG		TNF receptor-associated factor 2							37.0	37.0	37.0					9																	139802612		2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139802612G>C	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.457G>C	9.37:g.139802612G>C	ENSP00000247668:p.Glu153Gln					TRAF2_uc010nbv.1_Missense_Mutation_p.E205Q|TRAF2_uc004cjv.2_Missense_Mutation_p.E153Q|TRAF2_uc011mek.1_Missense_Mutation_p.E142Q|TRAF2_uc010nbw.2_Missense_Mutation_p.E153Q	p.E153Q	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	6	630	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	153			TRAF-type 1.		A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.457G>C	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.740967	0.69304	.	.	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T;T;T	0.37915	1.65;1.39;1.65;1.39;1.17	4.01	4.01	0.46588	Zinc finger, TRAF-type (1);	0.257192	0.39834	N	0.001244	T	0.57184	0.2036	M	0.76328	2.33	0.51767	D	0.999933	D;D;D;B	0.71674	0.961;0.961;0.998;0.403	D;D;D;B	0.70716	0.93;0.93;0.97;0.217	T	0.58364	-0.7649	10	0.37606	T	0.19	-25.3834	14.0658	0.64828	0.0:0.0:1.0:0.0	.	142;153;205;153	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	Q	153;153;153;177;153;205;205	ENSP00000405860:E153Q;ENSP00000446414:E153Q;ENSP00000406524:E153Q;ENSP00000247668:E153Q;ENSP00000352685:E205Q	ENSP00000247668:E153Q	E	+	1	0	TRAF2	138922433	1.000000	0.71417	0.101000	0.21167	0.431000	0.31685	5.309000	0.65774	2.082000	0.62665	0.561000	0.74099	GAG		0.662	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1		NM_021138		13	35	0	0	0	0.013537	0	13	35		
NPDC1	56654	broad.mit.edu	37	9	139937474	139937474	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:139937474C>G	ENST00000371601.4	-	2	377	c.164G>C	c.(163-165)aGg>aCg	p.R55T	NPDC1_ENST00000371600.3_Missense_Mutation_p.R133T|NPDC1_ENST00000488145.1_5'UTR	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	55						integral component of membrane (GO:0016021)		p.R55T(1)		NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGGAGGACACCTTGCCCGCCT	0.687																																						uc004ckt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(163-165)AGG>ACG		neural proliferation, differentiation and							35.0	36.0	35.0					9																	139937474		2201	4298	6499	SO:0001583	missense	56654					integral to membrane		g.chr9:139937474C>G	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.164G>C	9.37:g.139937474C>G	ENSP00000360660:p.Arg55Thr					NPDC1_uc004ckr.2_Missense_Mutation_p.R55T|NPDC1_uc004cks.2_Missense_Mutation_p.R133T|NPDC1_uc004cku.2_Missense_Mutation_p.R55T	p.R55T	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	2	399	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	55					Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Missense_Mutation	SNP	ENST00000371601.4	37	c.164G>C	CCDS7024.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773513	0.31411	.	.	ENSG00000107281	ENST00000371600;ENST00000371601	.	.	.	4.54	2.36	0.29203	.	0.447685	0.16874	U	0.195988	T	0.31358	0.0794	L	0.36672	1.1	0.09310	N	1	B;B;P;B	0.47545	0.052;0.026;0.897;0.026	B;B;P;B	0.48488	0.038;0.025;0.579;0.025	T	0.06789	-1.0807	9	0.41790	T	0.15	-3.6216	5.7061	0.17909	0.2067:0.6713:0.0:0.122	.	55;55;133;55	Q8WXX4;Q9NQX5;Q5SPY9;Q8NCE1	.;NPDC1_HUMAN;.;.	T	133;55	.	ENSP00000360659:R133T	R	-	2	0	NPDC1	139057295	0.084000	0.21492	0.968000	0.41197	0.794000	0.44872	0.365000	0.20348	0.871000	0.35750	0.555000	0.69702	AGG		0.687	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055182.1		NM_015392		14	30	0	0	0	0.00245	0	14	30		
ARSE	415	broad.mit.edu	37	X	2876407	2876407	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:2876407G>A	ENST00000381134.3	-	3	159	c.93C>T	c.(91-93)agC>agT	p.S31S	ARSE_ENST00000540563.1_Intron|ARSE_ENST00000496095.1_5'Flank|ARSE_ENST00000545496.1_Silent_p.S56S	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	31					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.S31S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGAAATGTCGCTGGAAGCTG	0.552																																						uc004crc.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(91-93)AGC>AGT		arylsulfatase E precursor							122.0	83.0	96.0					X																	2876407		2203	4300	6503	SO:0001819	synonymous_variant	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2876407G>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.93C>T	X.37:g.2876407G>A						ARSE_uc011mhi.1_Intron|ARSE_uc011mhh.1_Silent_p.S56S	p.S31S	NM_000047	NP_000038	P51690	ARSE_HUMAN			3	343	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	31					Q53FT2|Q53FU8	Silent	SNP	ENST00000381134.3	37	c.93C>T	CCDS14122.1																																																																																				0.552	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1		NM_000047		20	58	0	0	0	0.012319	0	20	58		
PHKA2	5256	broad.mit.edu	37	X	18926150	18926150	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:18926150G>C	ENST00000379942.4	-	22	3050	c.2385C>G	c.(2383-2385)ctC>ctG	p.L795L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	795					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.L795L(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCTGTCCAGAGAGATTTGTGT	0.517																																						uc004cyv.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(2383-2385)CTC>CTG		phosphorylase kinase, alpha 2 (liver)							148.0	147.0	147.0					X																	18926150		2203	4300	6503	SO:0001819	synonymous_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18926150G>C		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2385C>G	X.37:g.18926150G>C						PHKA2_uc004cyu.3_Silent_p.L93L|PHKA2_uc010nfe.1_5'Flank|PHKA2_uc010nff.1_5'Flank	p.L795L	NM_000292	NP_000283	P46019	KPB2_HUMAN			22	2815	-	Hepatocellular(33;0.183)		795					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	c.2385C>G	CCDS14190.1																																																																																				0.517	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1		NM_000292		67	321	0	0	0	0.01441	0	67	321		
DMD	1756	broad.mit.edu	37	X	32429880	32429880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:32429880G>A	ENST00000357033.4	-	30	4428	c.4222C>T	c.(4222-4224)Cag>Tag	p.Q1408*	DMD_ENST00000378677.2_Nonsense_Mutation_p.Q1404*	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	1408					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.Q1404*(1)|p.Q67*(1)|p.Q1408*(1)|p.Q1403*(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)				TGGGCTTCCTGAGGCATTTGA	0.398																																						uc004dda.1		NaN																	4	Substitution - Nonsense(4)		urinary_tract(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(4222-4224)CAG>TAG		dystrophin Dp427m isoform							112.0	81.0	92.0					X																	32429880		2202	4300	6502	SO:0001587	stop_gained	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:32429880G>A	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.4222C>T	X.37:g.32429880G>A	ENSP00000354923:p.Gln1408*					DMD_uc004dcw.2_Nonsense_Mutation_p.Q64*|DMD_uc004dcx.2_Nonsense_Mutation_p.Q67*|DMD_uc004dcz.2_Nonsense_Mutation_p.Q1285*|DMD_uc004dcy.1_Nonsense_Mutation_p.Q1404*|DMD_uc004ddb.1_Nonsense_Mutation_p.Q1400*|DMD_uc010ngo.1_Intron	p.Q1408*	NM_004006	NP_003997	P11532	DMD_HUMAN			30	4466	-		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)	1408					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.4222C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	45	11.860614	0.99611	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.	.	.	5.68	5.68	0.88126	.	0.000000	0.33572	U	0.004775	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.7838	0.91946	0.0:0.0:1.0:0.0	.	.	.	.	X	1400;67;64;1404;1408;1408;1285	.	ENSP00000354923:Q1408X	Q	-	1	0	DMD	32339801	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.978000	0.88095	2.381000	0.81170	0.506000	0.49869	CAG		0.398	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006		29	98	0	0	0	0.010818	0	29	98		
BCOR	54880	broad.mit.edu	37	X	39933287	39933287	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:39933287C>T	ENST00000378444.4	-	4	1540	c.1312G>A	c.(1312-1314)Gat>Aat	p.D438N	BCOR_ENST00000342274.4_Missense_Mutation_p.D438N|BCOR_ENST00000378455.4_Missense_Mutation_p.D438N|BCOR_ENST00000397354.3_Missense_Mutation_p.D438N	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	438					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D438N(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGTGGCTTATCTGTGACGTCT	0.532			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3		NaN		Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(1312-1314)GAT>AAT		BCL-6 interacting corepressor isoform c							77.0	57.0	63.0					X																	39933287		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933287C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1312G>A	X.37:g.39933287C>T	ENSP00000367705:p.Asp438Asn					BCOR_uc004dep.3_Missense_Mutation_p.D438N|BCOR_uc004deo.3_Missense_Mutation_p.D438N|BCOR_uc004dem.3_Missense_Mutation_p.D438N|BCOR_uc004deq.3_Missense_Mutation_p.D438N	p.D438N	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			4	1604	-			438					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.1312G>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170262	0.78452	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	5.56	5.56	0.83823	.	.	.	.	.	T	0.36248	0.0960	L	0.27053	0.805	0.58432	D	0.999996	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.995;0.998	T	0.13469	-1.0508	9	0.52906	T	0.07	-24.3463	18.5854	0.91187	0.0:1.0:0.0:0.0	.	438;438;438;438	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	N	438	ENSP00000367716:D438N;ENSP00000380512:D438N;ENSP00000367705:D438N;ENSP00000345923:D438N;ENSP00000384485:D438N	ENSP00000345923:D438N	D	-	1	0	BCOR	39818231	1.000000	0.71417	0.908000	0.35775	0.991000	0.79684	7.445000	0.80570	2.331000	0.79229	0.600000	0.82982	GAT		0.532	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2		NM_017745		18	67	0	0	0	0.008871	0	18	67		
MED14	9282	broad.mit.edu	37	X	40568682	40568682	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:40568682C>G	ENST00000324817.1	-	10	1321	c.1203G>C	c.(1201-1203)ctG>ctC	p.L401L		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	401	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|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)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L401L(1)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTGTCAATCAGGAGTTTTT	0.353																																						uc004dex.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(2)|kidney(1)|skin(1)	4						c.(1201-1203)CTG>CTC		mediator complex subunit 14							66.0	57.0	60.0					X																	40568682		2203	4300	6503	SO:0001819	synonymous_variant	9282				androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40568682C>G	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1203G>C	X.37:g.40568682C>G						MED14_uc010nhe.1_Silent_p.L285L	p.L401L	NM_004229	NP_004220	O60244	MED14_HUMAN			10	1343	-			401			Interaction with STAT2.		Q4KMR7|Q9UNB3	Silent	SNP	ENST00000324817.1	37	c.1203G>C	CCDS14254.1																																																																																				0.353	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1		NM_004229		13	73	0	0	0	0.00245	0	13	73		
USP9X	8239	broad.mit.edu	37	X	41077663	41077663	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:41077663A>T	ENST00000324545.8	+	37	6881	c.6248A>T	c.(6247-6249)aAt>aTt	p.N2083I	USP9X_ENST00000378308.2_Missense_Mutation_p.N2083I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2083					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.N2083I(1)|p.N2076I(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CACAGCAAGAATGTACGTTTT	0.373																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(3)|breast(2)|ovary(1)	6						c.(6247-6249)AAT>ATT		ubiquitin specific protease 9, X-linked isoform							191.0	173.0	179.0					X																	41077663		2202	4300	6502	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41077663A>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6248A>T	X.37:g.41077663A>T	ENSP00000316357:p.Asn2083Ile					USP9X_uc004dfc.2_Missense_Mutation_p.N2083I	p.N2083I	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			37	6881	+			2083					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.6248A>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	16.09	3.024812	0.54683	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.02944	4.1;4.1	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.02380	0.0073	N	0.17474	0.49	0.80722	D	1	B;B	0.33266	0.04;0.404	B;B	0.24006	0.014;0.05	T	0.62807	-0.6776	10	0.36615	T	0.2	.	15.1123	0.72368	1.0:0.0:0.0:0.0	.	2083;2083	Q93008-1;Q93008	.;USP9X_HUMAN	I	2083	ENSP00000367558:N2083I;ENSP00000316357:N2083I	ENSP00000316357:N2083I	N	+	2	0	USP9X	40962607	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	8.962000	0.93254	1.952000	0.56665	0.417000	0.27973	AAT		0.373	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4		NM_004652		59	196	0	0	0	0.01441	0	59	196		
TBC1D25	4943	broad.mit.edu	37	X	48418785	48418785	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:48418785G>A	ENST00000376771.4	+	6	1830	c.1489G>A	c.(1489-1491)Ggt>Agt	p.G497S	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.G243S	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	497	Poly-Gly.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)	p.G497S(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GGGGCCTGGTGGTGGGGGGCG	0.642																																						uc004dka.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1489-1491)GGT>AGT		TBC1 domain family, member 25							30.0	34.0	33.0					X																	48418785		2203	4297	6500	SO:0001583	missense	4943					intracellular	Rab GTPase activator activity	g.chrX:48418785G>A	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1489G>A	X.37:g.48418785G>A	ENSP00000365962:p.Gly497Ser					TBC1D25_uc011mly.1_Missense_Mutation_p.G439S|TBC1D25_uc004dkb.1_Missense_Mutation_p.G243S|TBC1D25_uc011mlz.1_Missense_Mutation_p.G243S|TBC1D25_uc011mma.1_Missense_Mutation_p.G243S|TBC1D25_uc004dkc.1_Missense_Mutation_p.G243S|TBC1D25_uc011mmb.1_Missense_Mutation_p.G501S|TBC1D25_uc011mmc.1_Missense_Mutation_p.G243S|TBC1D25_uc011mmd.1_Missense_Mutation_p.G243S	p.G497S	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN			6	1600	+			497			Poly-Gly.		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	c.1489G>A	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907367	0.33628	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.14266	2.52;2.52	5.44	-0.226	0.13106	Rab-GAP/TBC domain (1);	0.930819	0.09090	N	0.850019	T	0.07999	0.0200	L	0.40543	1.245	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43540	-0.9385	10	0.07990	T	0.79	-12.4145	1.7323	0.02934	0.2958:0.1365:0.427:0.1406	.	501;439;497	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	S	497;243	ENSP00000365962:G497S;ENSP00000444091:G243S	ENSP00000365962:G497S	G	+	1	0	TBC1D25	48303729	0.148000	0.22702	0.209000	0.23619	0.803000	0.45373	0.238000	0.18004	0.413000	0.25759	0.436000	0.28706	GGT		0.642	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2		NM_002536		16	61	0	0	0	0.008871	0	16	61		
HUWE1	10075	broad.mit.edu	37	X	53587226	53587226	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:53587226C>T	ENST00000342160.3	-	55	8116	c.7659G>A	c.(7657-7659)ctG>ctA	p.L2553L	MIRLET7F2_ENST00000385277.1_RNA|HUWE1_ENST00000262854.6_Silent_p.L2553L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2553					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.L2553L(1)|p.L2416L(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						TATTGGCCGTCAGCTGCCTTA	0.562																																						uc004dsp.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(7657-7659)CTG>CTA		HECT, UBA and WWE domain containing 1							91.0	58.0	69.0					X																	53587226		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:53587226C>T	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.7659G>A	X.37:g.53587226C>T						HUWE1_uc004dsn.2_Silent_p.L1377L|uc004dss.2_5'Flank|MIRLET7F2_hsa-let-7f-2|MI0000068_5'Flank	p.L2553L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			56	8061	-			2553					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.7659G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	7.962	0.747257	0.15710	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.69	0.691	0.18045	.	.	.	.	.	T	0.51534	0.1680	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36212	-0.9757	4	.	.	.	.	5.8489	0.18681	0.0:0.4691:0.2373:0.2936	.	.	.	.	N	1587	.	.	D	-	1	0	HUWE1	53603951	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	0.678000	0.25277	0.003000	0.14656	0.600000	0.82982	GAC		0.562	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119		8	27	0	0	0	0.013537	0	8	27		
ITIH6	347365	broad.mit.edu	37	X	54781511	54781511	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:54781511C>T	ENST00000218436.6	-	9	3170	c.3141G>A	c.(3139-3141)gaG>gaA	p.E1047E		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1047					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E1047E(1)									CTCCCAGGATCTCCTCAGAAT	0.488																																						uc004dtj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(3139-3141)GAG>GAA		inter-alpha (globulin) inhibitor H5-like							103.0	85.0	91.0					X																	54781511		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54781511C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3141G>A	X.37:g.54781511C>T							p.E1047E	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			9	3171	-			1047					A6NN03	Silent	SNP	ENST00000218436.6	37	c.3141G>A	CCDS14361.1																																																																																				0.488	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2		NM_198510		38	119	0	0	0	0.005524	0	38	119		
TRO	7216	broad.mit.edu	37	X	54956580	54956580	+	Silent	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:54956580T>C	ENST00000173898.7	+	12	3535	c.3423T>C	c.(3421-3423)ggT>ggC	p.G1141G	SNORA11_ENST00000408823.1_RNA|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Silent_p.G744G|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Silent_p.G672G|TRO_ENST00000375022.4_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1141	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G1141G(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCTTTGGTGGTGCTCATGGCA	0.567																																						uc004dtq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(3421-3423)GGT>GGC		trophinin isoform 5							54.0	53.0	53.0					X																	54956580		2018	4150	6168	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54956580T>C	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.3423T>C	X.37:g.54956580T>C						TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.G672G|TRO_uc004dtw.2_Silent_p.G744G|TRO_uc004dtx.2_Silent_p.G524G	p.G1141G	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			12	3530	+			1141			34.|62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.3423T>C	CCDS43959.1																																																																																				0.567	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3		NM_016157		17	68	0	0	0	0.008871	0	17	68		
DLG3	1741	broad.mit.edu	37	X	69719849	69719849	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:69719849G>A	ENST00000374360.3	+	16	2328	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N	DLG3_ENST00000374355.3_Missense_Mutation_p.D394N|DLG3_ENST00000542398.1_Missense_Mutation_p.D248N|DLG3_ENST00000194900.4_Missense_Mutation_p.D731N|DLG3_ENST00000461646.1_3'UTR	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	699	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)	p.D699N(1)|p.D394N(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CCAATTTAATGATAACCTCTA	0.493																																						uc004dyi.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(1)|pancreas(1)	2						c.(2095-2097)GAT>AAT		synapse-associated protein 102 isoform a							84.0	67.0	73.0					X																	69719849		2203	4300	6503	SO:0001583	missense	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69719849G>A	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.2095G>A	X.37:g.69719849G>A	ENSP00000363480:p.Asp699Asn					DLG3_uc004dyj.1_Missense_Mutation_p.D394N|DLG3_uc011mpn.1_Missense_Mutation_p.D247N	p.D699N	NM_021120	NP_066943	Q92796	DLG3_HUMAN			16	2423	+	Renal(35;0.156)		699			Guanylate kinase-like.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	c.2095G>A	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714041	0.30413	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355;ENST00000542398	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.65	5.65	0.86999	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.063541	0.64402	D	0.000008	T	0.24661	0.0598	N	0.17248	0.465	0.50467	D	0.999876	D;B;P	0.54397	0.966;0.001;0.953	P;B;P	0.62089	0.898;0.02;0.898	T	0.03394	-1.1041	9	.	.	.	.	17.55	0.87873	0.0:0.0:1.0:0.0	.	248;394;699	B4E0H1;Q5JUW6;Q92796	.;.;DLG3_HUMAN	N	731;699;394;248	ENSP00000194900:D731N;ENSP00000363480:D699N;ENSP00000363475:D394N;ENSP00000441393:D248N	.	D	+	1	0	DLG3	69636574	1.000000	0.71417	0.817000	0.32601	0.620000	0.37586	6.518000	0.73764	2.618000	0.88619	0.600000	0.82982	GAT		0.493	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2		NM_021120		9	38	0	0	0	0.004482	0	9	38		
HDX	139324	broad.mit.edu	37	X	83723964	83723964	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:83723964C>T	ENST00000297977.5	-	3	878	c.767G>A	c.(766-768)aGa>aAa	p.R256K	HDX_ENST00000506585.2_Missense_Mutation_p.R198K|HDX_ENST00000373177.2_Missense_Mutation_p.R256K	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	256						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R256K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTTTTGTGTTCTACAGTAAGG	0.453																																					Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(766-768)AGA>AAA		highly divergent homeobox							94.0	89.0	91.0					X																	83723964		2203	4299	6502	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83723964C>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.767G>A	X.37:g.83723964C>T	ENSP00000297977:p.Arg256Lys					HDX_uc011mqv.1_Missense_Mutation_p.R256K|HDX_uc004eel.1_Missense_Mutation_p.R198K	p.R256K	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			3	876	-			256					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.767G>A	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	9.339	1.062641	0.19987	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.42513	1.58;1.58;1.58;0.97	5.45	5.45	0.79879	.	0.368487	0.30949	N	0.008556	T	0.37517	0.1006	L	0.48642	1.525	0.31445	N	0.671467	B	0.23442	0.085	B	0.16722	0.016	T	0.34527	-0.9825	10	0.13108	T	0.6	-20.1221	18.5662	0.91118	0.0:1.0:0.0:0.0	.	256	Q7Z353	HDX_HUMAN	K	256;198;256;198	ENSP00000297977:R256K;ENSP00000362272:R198K;ENSP00000423670:R256K;ENSP00000387790:R198K	ENSP00000297977:R256K	R	-	2	0	HDX	83610620	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.514000	0.53422	2.415000	0.81967	0.513000	0.50165	AGA		0.453	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2		NM_144657		47	163	0	0	0	0.01441	0	47	163		
DRP2	1821	broad.mit.edu	37	X	100497935	100497935	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:100497935C>T	ENST00000395209.3	+	9	1545	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	DRP2_ENST00000541709.1_Missense_Mutation_p.R262W|DRP2_ENST00000538510.1_Missense_Mutation_p.R340W|DRP2_ENST00000402866.1_Missense_Mutation_p.R340W	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	340					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.R337W(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						GGATGCCCACCGGGACTTTGG	0.512																																						uc004egz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1018-1020)CGG>TGG		dystrophin related protein 2							144.0	124.0	131.0					X																	100497935		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100497935C>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.1018C>T	X.37:g.100497935C>T	ENSP00000378635:p.Arg340Trp					DRP2_uc011mrh.1_Missense_Mutation_p.R262W	p.R340W	NM_001939	NP_001930	Q13474	DRP2_HUMAN			9	1387	+			340					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1018C>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828705	0.71258	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.46	3.66	0.41972	.	0.118612	0.53938	D	0.000041	T	0.70202	0.3197	M	0.85630	2.765	0.50632	D	0.999885	D	0.89917	1.0	D	0.77557	0.99	T	0.73471	-0.3972	10	0.66056	D	0.02	-19.2864	13.3126	0.60388	0.4092:0.5908:0.0:0.0	.	340	Q13474	DRP2_HUMAN	W	340;340;262;340	ENSP00000385038:R340W;ENSP00000378635:R340W;ENSP00000444752:R262W;ENSP00000441051:R340W	ENSP00000362007:R340W	R	+	1	2	DRP2	100384591	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	2.544000	0.45761	0.471000	0.27319	-0.224000	0.12420	CGG		0.512	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3		NM_001939		43	181	0	0	0	0.00874	0	43	181		
TAF7L	54457	broad.mit.edu	37	X	100537423	100537423	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:100537423C>T	ENST00000372907.3	-	5	567	c.556G>A	c.(556-558)Gat>Aat	p.D186N	TAF7L_ENST00000356784.1_Missense_Mutation_p.D100N|TAF7L_ENST00000372905.2_Missense_Mutation_p.D100N|TAF7L_ENST00000324762.6_Missense_Mutation_p.D100N	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	186					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)		p.D186N(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ATATCACCATCAGCAGTGCAC	0.393																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(556-558)GAT>AAT		TATA box binding protein-associated factor, RNA							150.0	118.0	129.0					X																	100537423		2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100537423C>T	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.556G>A	X.37:g.100537423C>T	ENSP00000361998:p.Asp186Asn					TAF7L_uc004eha.2_Missense_Mutation_p.D100N|TAF7L_uc004ehc.1_Missense_Mutation_p.D100N	p.D186N	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN			5	568	-			186					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.556G>A	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009124	0.54361	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.24350	2.42;1.86;1.86;3.04	5.67	4.79	0.61399	TAFII55 protein, conserved region (1);	1.475730	0.04222	N	0.333666	T	0.44953	0.1318	L	0.48877	1.53	0.33922	D	0.640988	D;P	0.58970	0.984;0.919	P;P	0.55303	0.773;0.544	T	0.27157	-1.0082	10	0.72032	D	0.01	-0.376	15.5872	0.76491	0.0:0.8656:0.1344:0.0	.	186;100	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	N	186;100;100;100	ENSP00000361998:D186N;ENSP00000361996:D100N;ENSP00000320283:D100N;ENSP00000349235:D100N	ENSP00000320283:D100N	D	-	1	0	TAF7L	100424079	0.989000	0.36119	0.082000	0.20525	0.043000	0.13939	4.325000	0.59234	1.118000	0.41863	0.544000	0.68410	GAT		0.393	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2				18	87	0	0	0	0.006122	0	18	87		
GLRA4	441509	broad.mit.edu	37	X	102974114	102974114	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:102974114G>C	ENST00000372617.4	-	7	1224	c.804C>G	c.(802-804)ctC>ctG	p.L268L	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	268						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.L268L(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGATGACGATGAGTAGGCTGG	0.557																																						uc011mse.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(802-804)CTC>CTG		glycine receptor, alpha 4 precursor							156.0	159.0	158.0					X																	102974114		2203	4299	6502	SO:0001819	synonymous_variant	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102974114G>C	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.804C>G	X.37:g.102974114G>C						GLRA4_uc010nou.2_Silent_p.L268L	p.L268L	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			7	1225	-			268			Helical; (Potential).			Silent	SNP	ENST00000372617.4	37	c.804C>G	CCDS43980.2																																																																																				0.557	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2		NM_001024452		60	248	0	0	0	0.01441	0	60	248		
RGAG1	57529	broad.mit.edu	37	X	109695177	109695177	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:109695177C>G	ENST00000465301.2	+	3	1578	c.1332C>G	c.(1330-1332)gtC>gtG	p.V444V	RGAG1_ENST00000540313.1_Silent_p.V444V	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	444								p.V444V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGATGACAGTCCCAAGCTCTG	0.512																																						uc004eor.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1330-1332)GTC>GTG		retrotransposon gag domain containing 1							159.0	146.0	150.0					X																	109695177		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109695177C>G	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1332C>G	X.37:g.109695177C>G						RGAG1_uc011msr.1_Silent_p.V444V	p.V444V	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	1578	+			444					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.1332C>G	CCDS14552.1																																																																																				0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2		NM_020769		60	239	0	0	0	0.01441	0	60	239		
LAMP2	3920	broad.mit.edu	37	X	119581866	119581866	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:119581866T>C	ENST00000200639.4	-	5	707	c.571A>G	c.(571-573)Aaa>Gaa	p.K191E	LAMP2_ENST00000538785.1_Missense_Mutation_p.K80E|LAMP2_ENST00000540603.1_Missense_Mutation_p.K144E|LAMP2_ENST00000371335.4_Missense_Mutation_p.K191E|LAMP2_ENST00000434600.2_Missense_Mutation_p.K191E			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	191	First lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)	p.K191E(3)		endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GTTTTGTCTTTATCACACAGG	0.408																																						uc004est.3		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(1)	1						c.(571-573)AAA>GAA		lysosomal-associated membrane protein 2 isoform							178.0	161.0	167.0					X																	119581866		2203	4300	6503	SO:0001583	missense	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119581866T>C	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.571A>G	X.37:g.119581866T>C	ENSP00000200639:p.Lys191Glu					LAMP2_uc004ess.3_Missense_Mutation_p.K191E|LAMP2_uc011mtz.1_Missense_Mutation_p.K80E|LAMP2_uc011mua.1_Missense_Mutation_p.K144E|LAMP2_uc010nqp.1_Missense_Mutation_p.K191E	p.K191E	NM_002294	NP_002285	P13473	LAMP2_HUMAN			5	751	-			191			Lumenal (Potential).|First lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	ENST00000200639.4	37	c.571A>G	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	T	0.104	-1.148418	0.01714	.	.	ENSG00000005893	ENST00000434600;ENST00000538785;ENST00000200639;ENST00000371335;ENST00000540603	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.98	-2.98	0.05513	.	0.470491	0.22834	N	0.055063	T	0.13500	0.0327	N	0.13098	0.295	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.10450	0.003;0.005;0.001;0.003;0.003	T	0.32214	-0.9915	10	0.02654	T	1	-3.0E-4	13.9209	0.63930	0.0:0.2979:0.0:0.7021	.	144;80;191;191;191	B4E2S7;B7Z2R9;P13473-2;P13473;Q6Q3G8	.;.;.;LAMP2_HUMAN;.	E	191;80;191;191;144	ENSP00000408411:K191E;ENSP00000440506:K80E;ENSP00000200639:K191E;ENSP00000360386:K191E;ENSP00000440479:K144E	ENSP00000200639:K191E	K	-	1	0	LAMP2	119465894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.402000	0.07223	-1.266000	0.02446	-2.387000	0.00228	AAA		0.408	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1				46	132	0	0	0	0.011902	0	46	132		
BCORL1	63035	broad.mit.edu	37	X	129185834	129185834	+	Splice_Site	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:129185834G>A	ENST00000218147.7	+	12	4893		c.e12-1		BCORL1_ENST00000303743.5_Splice_Site|BCORL1_ENST00000540052.1_Splice_Site|BCORL1_ENST00000359304.2_Splice_Site			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.?(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCCCCTTACAGAGGAAAAAGA	0.473																																						uc004evb.1		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(4)|breast(2)|lung(1)	7						c.e12-1		BCL6 co-repressor-like 1							203.0	190.0	194.0					X																	129185834		2203	4300	6503	SO:0001630	splice_region_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129185834G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4697-1G>A	X.37:g.129185834G>A						BCORL1_uc004evc.1_Splice_Site_p.E402_splice	p.E1566_splice	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			12	4811	+								B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Splice_Site	SNP	ENST00000218147.7	37	c.4697_splice	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053500	0.75960	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.092	0.89478	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCORL1	129013515	1.000000	0.71417	0.927000	0.36925	0.799000	0.45148	8.201000	0.89735	2.309000	0.77851	0.513000	0.50165	.		0.473	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1		NM_021946	Intron	78	292	0	0	0	0.01441	0	78	292		
ZIC3	7547	broad.mit.edu	37	X	136649816	136649816	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:136649816C>G	ENST00000287538.5	+	1	1516	c.966C>G	c.(964-966)caC>caG	p.H322Q	ZIC3_ENST00000370606.3_Missense_Mutation_p.H322Q	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	322	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H322Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					TCCGAGTGCACACGGGCGAGA	0.597																																						uc004fak.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(964-966)CAC>CAG		zinc finger protein of the cerebellum 3							76.0	83.0	81.0					X																	136649816		2203	4300	6503	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649816C>G	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.966C>G	X.37:g.136649816C>G	ENSP00000287538:p.His322Gln						p.H322Q	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	1471	+	Acute lymphoblastic leukemia(192;0.000127)		322			Nuclear localization signal.|C2H2-type 2; atypical.		B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.966C>G	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579659	0.65992	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.66995	-0.24;-0.24	4.74	4.74	0.60224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.095802	0.64402	D	0.000001	T	0.81588	0.4854	M	0.87180	2.865	0.58432	D	0.999995	D	0.76494	0.999	D	0.74023	0.982	D	0.84089	0.0389	10	0.87932	D	0	.	9.59	0.39539	0.0:0.9025:0.0:0.0975	.	322	O60481	ZIC3_HUMAN	Q	322	ENSP00000287538:H322Q;ENSP00000359638:H322Q	ENSP00000287538:H322Q	H	+	3	2	ZIC3	136477482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.947000	0.56652	2.183000	0.69458	0.596000	0.82720	CAC		0.597	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1				55	186	0	0	0	0.01441	0	55	186		
MAGEA10	4109	broad.mit.edu	37	X	151303655	151303655	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:151303655G>C	ENST00000370323.4	-	4	754	c.438C>G	c.(436-438)ctC>ctG	p.L146L	MAGEA10_ENST00000244096.3_Silent_p.L146L|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	146	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)		p.L146L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GATACTTGAAGAGCAGAAACT	0.443																																						uc004ffk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(436-438)CTC>CTG		melanoma antigen family A, 10							116.0	111.0	113.0					X																	151303655		2203	4300	6503	SO:0001819	synonymous_variant	4109							g.chrX:151303655G>C		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.438C>G	X.37:g.151303655G>C						MAGEA10_uc004ffl.2_Silent_p.L146L	p.L146L	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN			5	846	-	Acute lymphoblastic leukemia(192;6.56e-05)		146			MAGE.			Silent	SNP	ENST00000370323.4	37	c.438C>G	CCDS14705.1																																																																																				0.443	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3		NM_021048		67	183	0	0	0	0.01441	0	67	183		
PLXNB3	5365	broad.mit.edu	37	X	153040417	153040417	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:153040417G>A	ENST00000361971.5	+	24	4128	c.4014G>A	c.(4012-4014)gaG>gaA	p.E1338E	PLXNB3_ENST00000538282.1_Missense_Mutation_p.A973T|PLXNB3_ENST00000538966.1_Silent_p.E1361E|PLXNB3_ENST00000538776.1_Silent_p.E991E|SRPK3_ENST00000489426.1_5'Flank	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1338					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.E1338E(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTACGCCGAGCGCGCCTTCT	0.706													G|||	1	0.000264901	0.0	0.0	3775	,	,		12024	0.0		0.0	False		,,,				2504	0.001					uc004fii.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)	1						c.(4012-4014)GAG>GAA		plexin B3 isoform 1							46.0	47.0	46.0					X																	153040417		2200	4292	6492	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153040417G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4014G>A	X.37:g.153040417G>A						PLXNB3_uc010nuk.2_Silent_p.E1361E|PLXNB3_uc011mzd.1_Silent_p.E977E|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank	p.E1338E	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			24	4188	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1338			Cytoplasmic (Potential).		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.4014G>A	CCDS14729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.84|11.84	1.759491|1.759491	0.31137|0.31137	.|.	.|.	ENSG00000198753|ENSG00000198753	ENST00000538282|ENST00000411613	T|.	0.69435|.	-0.4|.	5.08|5.08	2.28|2.28	0.28536|0.28536	.|.	.|.	.|.	.|.	.|.	T|T	0.55465|0.55465	0.1922|0.1922	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49799|0.49799	-0.8901|-0.8901	5|4	.|.	.|.	.|.	.|.	7.4617|7.4617	0.27300|0.27300	0.3662:0.0:0.6338:0.0|0.3662:0.0:0.6338:0.0	.|.	.|.	.|.	.|.	T|N	973|44	ENSP00000441919:A973T|.	.|.	A|S	+|+	1|2	0|0	PLXNB3|PLXNB3	152693611|152693611	1.000000|1.000000	0.71417|0.71417	0.794000|0.794000	0.32065|0.32065	0.020000|0.020000	0.10135|0.10135	1.445000|1.445000	0.35079|0.35079	0.912000|0.912000	0.36772|0.36772	0.436000|0.436000	0.28706|0.28706	GCG|AGC		0.706	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1				24	86	0	0	0	0.004656	0	24	86		
FLNA	2316	broad.mit.edu	37	X	153577785	153577785	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:153577785C>T	ENST00000369850.3	-	47	7937	c.7701G>A	c.(7699-7701)ctG>ctA	p.L2567L	FLNA_ENST00000369856.3_Silent_p.L700L|FLNA_ENST00000422373.1_Silent_p.L2559L|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000360319.4_Silent_p.L2559L|FLNA_ENST00000344736.4_Silent_p.L2527L	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2567	Self-association site, tail.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.L2567L(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGCCTTGCTCAGCCCCAGGC	0.657																																						uc004fkk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(6)	6						c.(7699-7701)CTG>CTA		filamin A, alpha isoform 2							50.0	54.0	53.0					X																	153577785		1943	4119	6062	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153577785C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.7701G>A	X.37:g.153577785C>T						FLNA_uc004fki.2_Silent_p.L607L|FLNA_uc011mzn.1_Silent_p.L700L|FLNA_uc010nuu.1_Silent_p.L2559L	p.L2567L	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			47	7950	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2567			Self-association site, tail.|Filamin 24.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.7701G>A	CCDS48194.1																																																																																				0.657	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3				51	119	0	0	0	0.01441	0	51	119		
RPL10	6134	broad.mit.edu	37	X	153629109	153629109	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:153629109G>A	ENST00000369817.2	+	8	1135	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	RPL10_ENST00000424325.2_Missense_Mutation_p.E187K|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000406022.2_Missense_Mutation_p.E136K			P27635	RL10_HUMAN	ribosomal protein L10	187					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.E187K(1)		large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGGTGGCTGAAAAGCGGCT	0.527																																						uc004fkm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(559-561)GAA>AAA		ribosomal protein L10							38.0	37.0	37.0					X																	153629109		2203	4296	6499	SO:0001583	missense	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153629109G>A	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.559G>A	X.37:g.153629109G>A	ENSP00000358832:p.Glu187Lys					uc010nuv.1_5'Flank|RPL10_uc004fko.2_Silent_p.L132L|RPL10_uc004fkn.1_Missense_Mutation_p.E187K|RPL10_uc004fkp.1_3'UTR|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron	p.E187K	NM_006013	NP_006004	P27635	RL10_HUMAN			7	747	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		187					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Missense_Mutation	SNP	ENST00000369817.2	37	c.559G>A	CCDS14746.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179896	0.57800	.	.	ENSG00000147403	ENST00000369817;ENST00000424325;ENST00000436473;ENST00000344746;ENST00000406022	T;T;T;T	0.73258	-0.72;-0.72;-0.72;-0.73	4.81	3.88	0.44766	.	0.137147	0.46442	U	0.000294	T	0.66809	0.2827	M	0.67397	2.05	0.58432	D	0.999997	B	0.06786	0.001	B	0.17433	0.018	T	0.65713	-0.6101	10	0.39692	T	0.17	-10.9872	11.2523	0.49032	0.0:0.1822:0.8178:0.0	.	187	P27635	RL10_HUMAN	K	187;187;187;187;136	ENSP00000358832:E187K;ENSP00000413436:E187K;ENSP00000341730:E187K;ENSP00000385621:E136K	ENSP00000341730:E187K	E	+	1	0	RPL10	153282303	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	3.654000	0.54453	1.976000	0.57569	0.600000	0.82982	GAA		0.527	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5		NM_006013		10	37	0	0	0	0.008291	0	10	37		
F8	2157	broad.mit.edu	37	X	154157864	154157864	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:154157864G>C	ENST00000360256.4	-	14	4401	c.4201C>G	c.(4201-4203)Caa>Gaa	p.Q1401E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1401	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.Q1401E(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTATTTGCTTGAGGGATGCTA	0.443																																						uc004fmt.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	GRCh37	CM061753	F8	M		c.(4201-4203)CAA>GAA		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						157.0	142.0	147.0					X																	154157864		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157864G>C	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4201C>G	X.37:g.154157864G>C	ENSP00000353393:p.Gln1401Glu						p.Q1401E	NM_000132	NP_000123	P00451	FA8_HUMAN			14	4372	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1401			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.4201C>G	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	2.118	-0.402046	0.04865	.	.	ENSG00000185010	ENST00000360256	D	0.99129	-5.46	4.95	2.94	0.34122	.	1.038830	0.07574	N	0.919100	D	0.97046	0.9035	M	0.62723	1.935	0.09310	N	1	B	0.29716	0.255	B	0.19666	0.026	D	0.92890	0.6330	10	0.20046	T	0.44	-1.3577	6.0444	0.19752	0.0:0.3028:0.5064:0.1909	.	1401	P00451	FA8_HUMAN	E	1401	ENSP00000353393:Q1401E	ENSP00000353393:Q1401E	Q	-	1	0	F8	153811058	0.003000	0.15002	0.028000	0.17463	0.016000	0.09150	0.593000	0.23999	2.040000	0.60383	0.509000	0.49947	CAA		0.443	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4				50	229	0	0	0	0.01441	0	50	229		
MYOF	26509	broad.mit.edu	37	10	95132825	95132827	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:95132825_95132827delAGG	ENST00000359263.4	-	24	2316_2318	c.2317_2319delCCT	c.(2317-2319)cctdel	p.P773del	MYOF_ENST00000371501.4_In_Frame_Del_p.P773del|MYOF_ENST00000371502.4_In_Frame_Del_p.P773del|MYOF_ENST00000358334.5_In_Frame_Del_p.P760del	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	773					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGATGATGTCAGGCATGCTGTTC	0.537																																						uc001kin.2		NaN																	0				ovary(3)|breast(1)	4						c.(2317-2319)CCTdel		myoferlin isoform a																																				SO:0001651	inframe_deletion	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95132825_95132827delAGG	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2317_2319delCCT	10.37:g.95132825_95132827delAGG	ENSP00000352208:p.Pro773del					MYOF_uc001kio.2_In_Frame_Del_p.P760del|MYOF_uc009xue.2_RNA	p.P773del	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			24	2440_2442	-			773			Cytoplasmic (Potential).		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	In_Frame_Del	DEL	ENST00000359263.4	37	c.2317_2319delCCT	CCDS41551.1																																																																																				0.537	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2		NM_013451		20	118	NaN	NaN	NaN	NaN	NaN	20	118	---	---
KLF5	688	broad.mit.edu	37	13	73636362	73636362	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:73636362delA	ENST00000377687.4	+	2	1161	c.625delA	c.(625-627)aaafs	p.K209fs	KLF5_ENST00000539231.1_Frame_Shift_Del_p.K118fs|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	209					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)		TATTTTCATCAAACAAGAACT	0.532																																						uc001vje.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(625-627)AAAfs		Kruppel-like factor 5							84.0	84.0	84.0					13																	73636362		2203	4300	6503	SO:0001589	frameshift_variant	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636362delA	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.625delA	13.37:g.73636362delA	ENSP00000366915:p.Lys209fs					KLF5_uc001vjd.2_Frame_Shift_Del_p.K118fs	p.K209fs	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	949	+		Prostate(6;0.00187)|Breast(118;0.0735)	209					L0R3U5|L0R4T9|Q9UHP8	Frame_Shift_Del	DEL	ENST00000377687.4	37	c.625delA	CCDS9448.1																																																																																				0.532	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1				22	81	NaN	NaN	NaN	NaN	NaN	22	81	---	---
CD3EAP	10849	broad.mit.edu	37	19	45910365	45910365	+	Frame_Shift_Del	DEL	C	C	-	rs117289933	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:45910365delC	ENST00000309424.3	+	2	524	c.36delC	c.(34-36)ttcfs	p.F12fs	PPP1R13L_ENST00000418234.2_5'Flank|CD3EAP_ENST00000589804.1_Frame_Shift_Del_p.F14fs|PPP1R13L_ENST00000360957.5_5'Flank|ERCC1_ENST00000588738.1_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	12					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CTGCTCGGTTCTCTTGTCCCC	0.592																																						uc002pbq.1		NaN																	0				large_intestine(2)|ovary(2)	4						c.(34-36)TTCfs		CD3E antigen, epsilon polypeptide associated							119.0	110.0	113.0					19																	45910365		2203	4300	6503	SO:0001589	frameshift_variant	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45910365delC	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.36delC	19.37:g.45910365delC	ENSP00000310966:p.Phe12fs					PPP1R13L_uc002pbn.2_5'Flank|PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Frame_Shift_Del_p.F14fs	p.F12fs	NM_012099	NP_036231	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	2	524	+		all_neural(266;0.224)|Ovarian(192;0.231)	12					Q32N11|Q7Z5U2|Q9UPF6	Frame_Shift_Del	DEL	ENST00000309424.3	37	c.36delC	CCDS12661.1																																																																																				0.592	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1		NM_012099		52	163	NaN	NaN	NaN	NaN	NaN	52	163	---	---
FBXW7	55294	broad.mit.edu	37	4	153249367	153249367	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:153249367delC	ENST00000281708.4	-	9	2640	c.1411delG	c.(1411-1413)gaafs	p.E471fs	FBXW7_ENST00000393956.3_Frame_Shift_Del_p.E295fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.E471fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.E353fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.E391fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.E471fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	471					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.E471*(2)|p.E232*(1)|p.?(1)|p.E391*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TACCTTTTTTCATGAAGATGC	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NaN		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		5	Substitution - Nonsense(4)|Unknown(1)		haematopoietic_and_lymphoid_tissue(5)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1411-1413)GAAfs		F-box and WD repeat domain containing 7 isoform							200.0	179.0	186.0					4																	153249367		2203	4300	6503	SO:0001589	frameshift_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153249367delC	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1411delG	4.37:g.153249367delC	ENSP00000281708:p.Glu471fs					FBXW7_uc011cii.1_Frame_Shift_Del_p.E471fs|FBXW7_uc003imt.2_Frame_Shift_Del_p.E471fs|FBXW7_uc011cih.1_Frame_Shift_Del_p.E295fs|FBXW7_uc003imq.2_Frame_Shift_Del_p.E391fs|FBXW7_uc003imr.2_Frame_Shift_Del_p.E353fs	p.E471fs	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			9	1560	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	471			WD 3.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Del	DEL	ENST00000281708.4	37	c.1411delG	CCDS3777.1																																																																																				0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1				51	179	NaN	NaN	NaN	NaN	NaN	51	179	---	---
