#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
DNAJC11	55735	broad.mit.edu	37	1	6727822	6727822	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:6727822G>A	ENST00000377577.5	-	4	448	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	DNAJC11_ENST00000542246.1_Missense_Mutation_p.R71W|DNAJC11_ENST00000377573.5_Missense_Mutation_p.R19W|DNAJC11_ENST00000349363.6_Missense_Mutation_p.R71W|DNAJC11_ENST00000294401.7_Missense_Mutation_p.R109W	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	109						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGCAGCCGCTCAAACTCC	0.522																																						uc001aof.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(325-327)Cgg>Tgg		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.							65.0	61.0	62.0					1																	6727822		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727822G>A	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.325C>T	1.37:g.6727822G>A	ENSP00000366800:p.Arg109Trp					DNAJC11_uc001aog.2_Missense_Mutation_p.R109W|DNAJC11_uc010nzu.1_Missense_Mutation_p.R19W	p.R109W	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	3	431	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	109					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.325C>T	CCDS87.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976601	0.74360	.	.	ENSG00000007923	ENST00000377577;ENST00000451196;ENST00000349363;ENST00000294401;ENST00000542246;ENST00000377573;ENST00000426784	T;T;T;T;T;T;T	0.37235	2.18;1.62;1.21;2.19;1.96;1.59;2.23	5.72	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.83603	2.65	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;0.962;0.988;0.98	T	0.67910	-0.5548	10	0.87932	D	0	-13.6569	12.6918	0.56978	0.0:0.0:0.6906:0.3094	.	19;85;109;109	B4DGD5;Q5TH61;Q9NVH1-3;Q9NVH1	.;.;.;DJC11_HUMAN	W	109;85;71;109;71;19;109	ENSP00000366800:R109W;ENSP00000415871:R85W;ENSP00000326304:R71W;ENSP00000294401:R109W;ENSP00000444020:R71W;ENSP00000366796:R19W;ENSP00000410194:R109W	ENSP00000294401:R109W	R	-	1	2	DNAJC11	6650409	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.344000	0.44010	1.351000	0.45789	0.655000	0.94253	CGG		0.522	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198	
MST1L	11223	broad.mit.edu	37	1	17085479	17085479	+	RNA	SNP	T	T	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:17085479T>C	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GTCTCAACCATTTCCAGGCTC	0.617																																						uc010ock.2																			0				breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						c.(1210-1212)aaA>aaG		Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.																																						11223							g.chr1:17085479T>C	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085479T>C						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR	p.K404K							9	1212	-								B7WPB1|Q13209	Silent	SNP	ENST00000455405.2	37	c.1212A>G																																																																																					0.617	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733	
LPAR3	23566	broad.mit.edu	37	1	85331664	85331665	+	Frame_Shift_Ins	INS	-	-	A	rs76299065		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:85331664_85331665insA	ENST00000440886.1	-	1	177_178	c.139_140insT	c.(139-141)tctfs	p.S47fs	LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.S47fs|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	47					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGAGAATTAGAAAAAAAAATA	0.401																																						uc001dkl.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(139-141)tctfs		Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.																																				SO:0001589	frameshift_variant	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331664_85331665insA	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.140dupT	1.37:g.85331673_85331673dupA	ENSP00000395389:p.Ser47fs					LPAR3_uc009wcj.1_Frame_Shift_Ins_p.S47fs	p.S47fs	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			0	178_179	-			47					A0AVA3	Frame_Shift_Ins	INS	ENST00000440886.1	37	c.139_140insT	CCDS700.1																																																																																				0.401	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152	
NBPF10	100132406	broad.mit.edu	37	1	145324371	145324371	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:145324371T>C	ENST00000342960.5	+	28	3601	c.3566T>C	c.(3565-3567)gTa>gCa	p.V1189A	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	776						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTGCTGGAGGTAGTAGCGCCT	0.498																																						uc021oul.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3565-3567)gTa>gCa		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				SO:0001583	missense	100132406							g.chr1:145324371T>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3566T>C	1.37:g.145324371T>C	ENSP00000345684:p.Val1189Ala					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Non-coding_Transcript	p.V1189A	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	27	3601	+	all_hematologic(923;0.032)		1189					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3566T>C	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.402480	0.00195	.	.	ENSG00000163386	ENST00000342960	T	0.06218	3.33	.	.	.	.	.	.	.	.	T	0.01189	0.0039	L	0.31476	0.935	0.09310	N	1	.	.	.	.	.	.	T	0.45804	-0.9236	5	0.07482	T	0.82	.	.	.	.	.	.	.	.	A	1189	ENSP00000345684:V1189A	ENSP00000345684:V1189A	V	+	2	0	NBPF10	144035728	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-1.639000	0.02011	0.493000	0.27837	0.000000	0.15137	GTA		0.498	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	lincRNA	SNP	A	A	G	rs9729175	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.2																						TGCTGCCCGCAGGATATTGTG	0.562													.|||	630	0.125799	0.112	0.1282	5008	,	,		27649	0.1796		0.0656	False		,,,				2504	0.1493					uc010pbc.1																			0											c.e3-2		Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																																						645166							g.chr1:148933289A>G																													1.37:g.148933289A>G						LOC645166_uc010pbd.1_Intron|LOC645166_uc009wkw.1_Splice_Site								3		+									Splice_Site	SNP	ENST00000539543.1	37	c.236_splice																																																																																					0.562	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA			
TDRKH	11022	broad.mit.edu	37	1	151755433	151755433	+	Silent	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:151755433C>T	ENST00000368822.1	-	2	699	c.66G>A	c.(64-66)ggG>ggA	p.G22G	TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000458431.2_Silent_p.G22G|TDRKH_ENST00000368827.6_Silent_p.G22G|TDRKH_ENST00000368823.1_Silent_p.G22G|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368825.3_Silent_p.G22G|TDRKH_ENST00000368824.3_Silent_p.G22G			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	22					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGCTGGGATCCCAAGGCCCA	0.463																																						uc009wnb.1																			0		p.G22V(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(64-66)ggG>ggA		Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.							108.0	111.0	110.0					1																	151755433		1861	4092	5953	SO:0001819	synonymous_variant	11022						RNA binding	g.chr1:151755433C>T	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.66G>A	1.37:g.151755433C>T						TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Silent_p.G22G|TDRKH_uc001ezc.4_Silent_p.G22G|TDRKH_uc001eza.4_Silent_p.G22G|TDRKH_uc001ezd.4_Silent_p.G22G|TDRKH_uc010pdn.1_5'UTR	p.G22G	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		1	248	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		22					D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	c.66G>A	CCDS41394.1																																																																																				0.463	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862	
CRTC2	200186	broad.mit.edu	37	1	153921628	153921628	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:153921628G>A	ENST00000368633.1	-	12	1764	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	CRTC2_ENST00000368630.3_Missense_Mutation_p.S226F|DENND4B_ENST00000361217.4_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	546					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|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)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCGGTGGTAAGACTGTTGCCC	0.597																																						uc021pab.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1636-1638)tCt>tTt		Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.							98.0	82.0	87.0					1																	153921628		2203	4300	6503	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153921628G>A	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1637C>T	1.37:g.153921628G>A	ENSP00000357622:p.Ser546Phe					DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Missense_Mutation_p.S82F	p.S546F	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		11	1796	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		546					Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.1637C>T	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	g	9.546	1.114743	0.20795	.	.	ENSG00000160741	ENST00000368630;ENST00000368633	T;T	0.44881	0.91;2.74	4.67	3.75	0.43078	.	1.442570	0.04068	N	0.307501	T	0.13927	0.0337	N	0.24115	0.695	0.20975	N	0.999812	B;P	0.50943	0.063;0.94	B;P	0.44732	0.023;0.459	T	0.07214	-1.0784	10	0.09590	T	0.72	7.0E-4	8.3685	0.32402	0.1068:0.0:0.8932:0.0	.	546;226	Q53ET0;Q5T4K5	CRTC2_HUMAN;.	F	226;546	ENSP00000357619:S226F;ENSP00000357622:S546F	ENSP00000357619:S226F	S	-	2	0	CRTC2	152188252	0.677000	0.27577	0.933000	0.37362	0.932000	0.56968	2.472000	0.45136	1.192000	0.43071	0.450000	0.29827	TCT		0.597	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715	
OR10J3	441911	broad.mit.edu	37	1	159283999	159283999	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:159283999C>T	ENST00000332217.5	-	1	450	c.451G>A	c.(451-453)Ggg>Agg	p.G151R		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGGCCAATCCCCAGTGATCCA	0.507																																						uc010piu.2																			0		p.G151G(1)|p.L150M(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(451-453)Ggg>Agg		Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.							69.0	63.0	65.0					1																	159283999		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283999C>T		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.451G>A	1.37:g.159283999C>T	ENSP00000331789:p.Gly151Arg						p.G151R	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			0	451	-	all_hematologic(112;0.0429)		151						Missense_Mutation	SNP	ENST00000332217.5	37	c.451G>A	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276740	0.23307	.	.	ENSG00000196266	ENST00000332217	T	0.38077	1.16	5.03	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17109	0.0411	L	0.48362	1.52	0.30116	N	0.806107	B	0.21821	0.061	B	0.31191	0.125	T	0.06409	-1.0828	9	0.33940	T	0.23	.	7.9524	0.30023	0.0:0.8198:0.0:0.1802	.	151	Q5JRS4	O10J3_HUMAN	R	151	ENSP00000331789:G151R	ENSP00000331789:G151R	G	-	1	0	OR10J3	157550623	0.000000	0.05858	0.998000	0.56505	0.645000	0.38454	0.077000	0.14738	2.589000	0.87451	0.561000	0.74099	GGG		0.507	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1		
POU2F1	5451	broad.mit.edu	37	1	167358969	167358969	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:167358969C>G	ENST00000541643.3	+	10	1051	c.889C>G	c.(889-891)Caa>Gaa	p.Q297E	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Missense_Mutation_p.Q297E|POU2F1_ENST00000367862.5_Missense_Mutation_p.Q309E|POU2F1_ENST00000452019.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.Q257E|POU2F1_ENST00000367866.2_Missense_Mutation_p.Q320E			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	297	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GACCTTCAAACAAAGACGAAT	0.483																																						uc001gec.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(889-891)Caa>Gaa		Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.							103.0	92.0	96.0					1																	167358969		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167358969C>G	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.889C>G	1.37:g.167358969C>G	ENSP00000441285:p.Gln297Glu					POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Missense_Mutation_p.Q320E|POU2F1_uc010plh.2_Missense_Mutation_p.Q257E|POU2F1_uc001ged.3_Missense_Mutation_p.Q295E|POU2F1_uc001gef.3_Missense_Mutation_p.Q309E|POU2F1_uc001geg.3_Missense_Mutation_p.Q195E	p.Q297E	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN			9	1128	+			297			POU-specific.		B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.889C>G		.	.	.	.	.	.	.	.	.	.	C	22.9	4.353264	0.82132	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.88	5.88	0.94601	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.86777	0.6014	L	0.47016	1.485	0.80722	D	1	P;P;P;P;P	0.51147	0.847;0.942;0.815;0.815;0.847	P;P;P;P;P	0.62184	0.858;0.899;0.778;0.841;0.858	D	0.87058	0.2151	10	0.87932	D	0	.	20.2366	0.98359	0.0:1.0:0.0:0.0	.	257;297;309;295;297	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	E	320;257;295;297;297;309;205	ENSP00000356840:Q320E;ENSP00000401217:Q257E;ENSP00000356839:Q295E;ENSP00000414660:Q297E;ENSP00000441285:Q297E;ENSP00000356836:Q309E;ENSP00000415993:Q205E	ENSP00000356836:Q309E	Q	+	1	0	POU2F1	165625593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.792000	0.96026	0.557000	0.71058	CAA		0.483	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697	
SWT1	54823	broad.mit.edu	37	1	185143825	185143825	+	Missense_Mutation	SNP	G	G	C	rs146489629	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:185143825G>C	ENST00000367500.4	+	5	711	c.546G>C	c.(544-546)aaG>aaC	p.K182N	SWT1_ENST00000367501.3_Missense_Mutation_p.K182N	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	182										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGAGAGAGAAGATGAAAGAAC	0.353																																						uc001grg.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(544-546)aaG>aaC		Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.							38.0	40.0	40.0					1																	185143825		2199	4300	6499	SO:0001583	missense	54823							g.chr1:185143825G>C	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.546G>C	1.37:g.185143825G>C	ENSP00000356470:p.Lys182Asn					SWT1_uc001grh.4_Missense_Mutation_p.K182N	p.K182N	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN			4	660	+			182					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.546G>C	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409133	0.25378	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.25250	1.81;1.81	5.56	1.55	0.23275	.	0.287831	0.29587	N	0.011739	T	0.21307	0.0513	M	0.63843	1.955	0.09310	N	1	B	0.20887	0.049	B	0.19666	0.026	T	0.27839	-1.0062	10	0.72032	D	0.01	.	2.4955	0.04621	0.1654:0.1492:0.5314:0.154	.	182	Q5T5J6	SWT1_HUMAN	N	182	ENSP00000356471:K182N;ENSP00000356470:K182N	ENSP00000356470:K182N	K	+	3	2	SWT1	183410448	0.993000	0.37304	0.002000	0.10522	0.642000	0.38348	0.944000	0.29043	0.292000	0.22492	0.455000	0.32223	AAG		0.353	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	
CFH	3075	broad.mit.edu	37	1	196694295	196694295	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:196694295G>A	ENST00000367429.4	+	12	1981	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	581	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTAGTTCCTGATCGCAAGAA	0.343																																						uc001gtj.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1741-1743)Gat>Aat		Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							72.0	63.0	66.0					1																	196694295		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196694295G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1741G>A	1.37:g.196694295G>A	ENSP00000356399:p.Asp581Asn					CFH_uc021pgt.1_Intron	p.D581N	NM_000186	NP_000177	P08603	CFAH_HUMAN			11	1981	+			581			Sushi 10.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1741G>A	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.697290	0.30142	.	.	ENSG00000000971	ENST00000367429	T	0.65364	-0.15	5.74	-11.5	0.00074	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.29061	0.0722	N	0.12746	0.255	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.12016	-1.0564	9	0.23891	T	0.37	.	1.4946	0.02464	0.309:0.2833:0.0844:0.3232	.	581	P08603	CFAH_HUMAN	N	581	ENSP00000356399:D581N	ENSP00000356399:D581N	D	+	1	0	CFH	194960918	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.008000	0.00315	-3.470000	0.00157	-0.145000	0.13849	GAT		0.343	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186	
TLL2	7093	broad.mit.edu	37	10	98155658	98155658	+	Missense_Mutation	SNP	C	C	T	rs368837755		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr10:98155658C>T	ENST00000357947.3	-	12	1729	c.1504G>A	c.(1504-1506)Gtg>Atg	p.V502M	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	502	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTAAGTCCCACGTGAAACCCC	0.498											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001kml.2																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1504-1506)Gtg>Atg		Homo sapiens tolloid-like 2 (TLL2), mRNA.		C	MET/VAL	0,4406		0,0,2203	119.0	111.0	113.0		1504	5.4	1.0	10		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLL2	NM_012465.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	502/1016	98155658	1,13005	2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98155658C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1504G>A	10.37:g.98155658C>T	ENSP00000350630:p.Val502Met		OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1333	TLL2_uc009xvf.2_Missense_Mutation_p.V480M	p.V502M	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	11	1745	-		Colorectal(252;0.0846)	502			CUB 2.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1504G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376228	0.82682	0.0	1.16E-4	ENSG00000095587	ENST00000357947	T	0.28255	1.62	5.37	5.37	0.77165	CUB (5);	0.197273	0.25631	N	0.029352	T	0.60143	0.2246	M	0.91354	3.2	0.58432	D	0.999997	D	0.76494	0.999	D	0.65684	0.937	T	0.67440	-0.5670	10	0.87932	D	0	.	11.3984	0.49856	0.0:0.9104:0.0:0.0896	.	502	Q9Y6L7	TLL2_HUMAN	M	502	ENSP00000350630:V502M	ENSP00000350630:V502M	V	-	1	0	TLL2	98145648	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	5.901000	0.69861	2.793000	0.96121	0.563000	0.77884	GTG		0.498	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1		
CHUK	1147	broad.mit.edu	37	10	101960490	101960490	+	Silent	SNP	A	A	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr10:101960490A>G	ENST00000370397.7	-	15	1703	c.1617T>C	c.(1615-1617)gcT>gcC	p.A539A		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	539					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CCATGATTTCAGCATGCAAAG	0.413																																					Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27						c.(1615-1617)gcT>gcC		Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.							141.0	132.0	135.0					10																	101960490		2203	4300	6503	SO:0001819	synonymous_variant	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101960490A>G	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1617T>C	10.37:g.101960490A>G							p.A539A	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	14	1672	-		Colorectal(252;0.117)	539					O14666|Q13132|Q5W0I4|Q92467	Silent	SNP	ENST00000370397.7	37	c.1617T>C	CCDS7488.1																																																																																				0.413	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278	
MYO7A	4647	broad.mit.edu	37	11	76901767	76901767	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr11:76901767T>C	ENST00000409709.3	+	30	4048	c.3776T>C	c.(3775-3777)aTg>aCg	p.M1259T	MYO7A_ENST00000409619.2_Missense_Mutation_p.M1248T|MYO7A_ENST00000458637.2_Missense_Mutation_p.M1259T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1259	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAGCCAATCATGTTGCCCGTG	0.597																																						uc001oyb.2																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3775-3777)aTg>aCg		Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.							52.0	59.0	57.0					11																	76901767		2075	4194	6269	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76901767T>C	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3776T>C	11.37:g.76901767T>C	ENSP00000386331:p.Met1259Thr					MYO7A_uc010rsm.1_Missense_Mutation_p.M1248T|MYO7A_uc001oyc.2_Missense_Mutation_p.M1259T|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.M470T	p.M1259T	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			29	4048	+			1259			FERM 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.3776T>C	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.121853	0.37436	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.97	4.97	0.65823	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.81014	0.4735	M	0.83312	2.635	0.80722	D	1	P;B;P	0.38020	0.615;0.082;0.615	B;B;B	0.43867	0.254;0.041;0.434	T	0.78568	-0.2154	10	0.12103	T	0.63	.	14.6351	0.68682	0.0:0.0:0.0:1.0	.	1248;1259;1259	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	T	1259;1259;1248;470;1258;1228;1135;440	ENSP00000386331:M1259T;ENSP00000392185:M1259T;ENSP00000386635:M1248T;ENSP00000417017:M440T	ENSP00000345075:M1135T	M	+	2	0	MYO7A	76579415	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.963000	0.70372	1.856000	0.53863	0.472000	0.43445	ATG		0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	
KIAA1551	55196	broad.mit.edu	37	12	32135884	32135884	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:32135884C>G	ENST00000312561.4	+	4	2409	c.1995C>G	c.(1993-1995)gaC>gaG	p.D665E	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	665																	CTAAAAGTGACAGTAGCTGTT	0.423																																						uc001rks.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59						c.(1993-1995)gaC>gaG		Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.							71.0	67.0	68.0					12																	32135884		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32135884C>G	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1995C>G	12.37:g.32135884C>G	ENSP00000310338:p.Asp665Glu						p.D665E	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		3	2409	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		665					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.1995C>G	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645395	0.47258	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.13901	3.57;2.55	4.72	3.6	0.41247	.	1.041540	0.07572	N	0.918764	T	0.16599	0.0399	L	0.54323	1.7	0.09310	N	1	P	0.40731	0.728	B	0.41036	0.346	T	0.14090	-1.0485	9	.	.	.	.	7.7114	0.28679	0.166:0.7321:0.0:0.1019	.	665	Q9HCM1	CL035_HUMAN	E	665	ENSP00000310338:D665E;ENSP00000370442:D665E	.	D	+	3	2	C12orf35	32027151	0.000000	0.05858	0.005000	0.12908	0.017000	0.09413	-0.234000	0.09028	2.181000	0.69327	0.563000	0.77884	GAC		0.423	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
ABCD2	225	broad.mit.edu	37	12	40013182	40013182	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:40013182C>G	ENST00000308666.3	-	1	371	c.236G>C	c.(235-237)gGa>gCa	p.G79A		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	79	Interaction with PEX19.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TGCATTCACTCCAGGCGAAGG	0.463																																						uc001rmb.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(235-237)gGa>gCa		Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.							105.0	111.0	109.0					12																	40013182		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40013182C>G	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.236G>C	12.37:g.40013182C>G	ENSP00000310688:p.Gly79Ala						p.G79A	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			0	662	-			79			Interaction with PEX19.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.236G>C	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	7.380	0.628681	0.14257	.	.	ENSG00000173208	ENST00000308666	D	0.94497	-3.44	4.83	2.96	0.34315	.	0.180590	0.48286	N	0.000191	D	0.86125	0.5858	N	0.05230	-0.09	0.39293	D	0.964766	B	0.10296	0.003	B	0.22880	0.042	T	0.77579	-0.2535	9	.	.	.	-17.7866	14.3629	0.66785	0.0:0.4028:0.5972:0.0	.	79	Q9UBJ2	ABCD2_HUMAN	A	79	ENSP00000310688:G79A	.	G	-	2	0	ABCD2	38299449	0.995000	0.38212	1.000000	0.80357	0.970000	0.65996	2.699000	0.47077	0.603000	0.29913	0.655000	0.94253	GGA		0.463	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	
OR6C2	341416	broad.mit.edu	37	12	55846834	55846834	+	Silent	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:55846834C>T	ENST00000322678.1	+	1	837	c.837C>T	c.(835-837)gtC>gtT	p.V279V	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	279					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)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTACTTCTGTCGCACCCTTGT	0.408																																						uc001sgz.1																			0				kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						c.(835-837)gtC>gtT		Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.							124.0	124.0	124.0					12																	55846834		2203	4300	6503	SO:0001819	synonymous_variant	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846834C>T	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.837C>T	12.37:g.55846834C>T							p.V279V	NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN			0	837	+			279						Silent	SNP	ENST00000322678.1	37	c.837C>T	CCDS31824.1																																																																																				0.408	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105	
LEMD3	23592	broad.mit.edu	37	12	65637180	65637180	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:65637180A>G	ENST00000308330.2	+	10	2344	c.2318A>G	c.(2317-2319)gAt>gGt	p.D773G		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	773	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TTTCATTTAGATAGAAGAAAT	0.303																																						uc001ssl.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2317-2319)gAt>gGt		Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.							118.0	120.0	119.0					12																	65637180		2202	4299	6501	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65637180A>G	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2318A>G	12.37:g.65637180A>G	ENSP00000308369:p.Asp773Gly					LEMD3_uc009zqo.2_Missense_Mutation_p.D772G	p.D773G	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	9	2344	+			773			Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.		Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.2318A>G	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409676	0.83340	.	.	ENSG00000174106	ENST00000308330	T	0.50277	0.75	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.56717	0.2004	L	0.47016	1.485	0.80722	D	1	B	0.33288	0.406	P	0.49451	0.611	T	0.52403	-0.8580	9	.	.	.	-17.0538	15.9956	0.80237	1.0:0.0:0.0:0.0	.	773	Q9Y2U8	MAN1_HUMAN	G	773	ENSP00000308369:D773G	.	D	+	2	0	LEMD3	63923447	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.664000	0.91139	2.248000	0.74166	0.533000	0.62120	GAT		0.303	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2		
IKBIP	121457	broad.mit.edu	37	12	99007867	99007867	+	Silent	SNP	T	T	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:99007867T>C	ENST00000342502.2	-	3	960	c.549A>G	c.(547-549)tcA>tcG	p.S183S	IKBIP_ENST00000420861.1_Silent_p.S77S|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	183					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTACTAAACCTGAAATCCGTC	0.308																																						uc001tfv.3																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(547-549)tcA>tcG		Homo sapiens IKBKB interacting protein (IKBIP), transcript variant 2, mRNA.							72.0	67.0	68.0					12																	99007867		2203	4298	6501	SO:0001819	synonymous_variant	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99007867T>C	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.549A>G	12.37:g.99007867T>C						IKBIP_uc001tfw.3_3'UTR	p.S183S	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN			2	659	-			183					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Silent	SNP	ENST00000342502.2	37	c.549A>G	CCDS9067.1																																																																																				0.308	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687	
ACADS	35	broad.mit.edu	37	12	121176677	121176677	+	Missense_Mutation	SNP	C	C	T	rs140853839		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:121176677C>T	ENST00000242592.4	+	8	1139	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	ACADS_ENST00000411593.2_Missense_Mutation_p.R326C|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	330					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)	p.R330C(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	GCTGACCTGGCGCGCTGCCAT	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17479	0.0		0.0	False		,,,				2504	0.001					uc001tza.4																			1	Substitution - Missense(1)	p.R330H(2)|p.R330C(2)	endometrium(1)	central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	GRCh37	CM067636	ACADS	M	rs140853839	c.(988-990)Cgc>Tgc		Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)	C	CYS/ARG	6,4400	8.1+/-20.4	0,6,2197	47.0	53.0	51.0		988	3.7	1.0	12	dbSNP_134	51	0,8600		0,0,4300	yes	missense	ACADS	NM_000017.2	180	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	probably-damaging	330/413	121176677	6,13000	2203	4300	6503	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121176677C>T	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.988C>T	12.37:g.121176677C>T	ENSP00000242592:p.Arg330Cys					ACADS_uc010szl.1_Missense_Mutation_p.R326C	p.R330C	NM_000017	NP_000008	P16219	ACADS_HUMAN			7	1106	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	330					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.988C>T	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121480	0.77436	0.001362	0.0	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.96745	-4.11;-4.11	4.63	3.7	0.42460	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.053187	0.64402	D	0.000001	D	0.98654	0.9549	H	0.97214	3.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.981;0.981	D	0.98701	1.0700	10	0.87932	D	0	.	11.986	0.53147	0.3855:0.6145:0.0:0.0	.	326;330;330	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	C	330;326	ENSP00000242592:R330C;ENSP00000401045:R326C	ENSP00000242592:R330C	R	+	1	0	ACADS	119661060	1.000000	0.71417	0.993000	0.49108	0.942000	0.58702	5.252000	0.65445	2.125000	0.65367	0.561000	0.74099	CGC		0.637	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017	
MMP14	4323	broad.mit.edu	37	14	23312494	23312494	+	Silent	SNP	C	C	T	rs548260059		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr14:23312494C>T	ENST00000311852.6	+	5	978	c.717C>T	c.(715-717)caC>caT	p.H239H	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	239					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TGGCTGTGCACGAGCTGGGCC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		18495	0.001		0.0	False		,,,				2504	0.0					uc001whc.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(715-717)caC>caT		Homo sapiens matrix metallopeptidase 14 (membrane-inserted) (MMP14), mRNA.							78.0	65.0	69.0					14																	23312494		2203	4300	6503	SO:0001819	synonymous_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23312494C>T		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.717C>T	14.37:g.23312494C>T							p.H239H	NM_004995	NP_004986	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	4	951	+	all_cancers(95;9.47e-05)		239					A8K5L0|Q6GSF3|Q92678	Silent	SNP	ENST00000311852.6	37	c.717C>T	CCDS9577.1																																																																																				0.602	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995	
TMC7	79905	broad.mit.edu	37	16	19073157	19073157	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr16:19073157A>T	ENST00000304381.5	+	16	2294	c.2164A>T	c.(2164-2166)Agg>Tgg	p.R722W	RP11-626G11.5_ENST00000567047.1_RNA|RP11-626G11.5_ENST00000568971.1_RNA|RP11-626G11.5_ENST00000571934.1_RNA|RP11-626G11.5_ENST00000576433.1_RNA|TMC7_ENST00000421369.3_Missense_Mutation_p.R612W	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	722					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AAGGGACATGAGGAACTAACT	0.418																																						uc002dfq.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(2164-2166)Agg>Tgg		Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.							114.0	90.0	98.0					16																	19073157		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19073157A>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.2164A>T	16.37:g.19073157A>T	ENSP00000304710:p.Arg722Trp					TMC7_uc010vap.2_Missense_Mutation_p.R612W	p.R722W	NM_024847	NP_001153836	Q7Z402	TMC7_HUMAN			15	2294	+			722					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.2164A>T	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405199	0.83230	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.74209	-0.81;-0.82	5.03	-1.81	0.07882	.	0.493791	0.20959	N	0.082589	T	0.73690	0.3619	L	0.43152	1.355	0.09310	N	1	D	0.57571	0.98	P	0.60286	0.872	T	0.66575	-0.5889	10	0.87932	D	0	.	7.9876	0.30220	0.3604:0.5166:0.123:0.0	.	722	Q7Z402	TMC7_HUMAN	W	722;612	ENSP00000304710:R722W;ENSP00000397081:R612W	ENSP00000304710:R722W	R	+	1	2	TMC7	18980658	0.339000	0.24784	0.001000	0.08648	0.600000	0.36913	0.502000	0.22594	-0.286000	0.09076	0.533000	0.62120	AGG		0.418	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847	
ULK2	9706	broad.mit.edu	37	17	19699577	19699577	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr17:19699577T>G	ENST00000395544.4	-	19	2327	c.1828A>C	c.(1828-1830)Atc>Ctc	p.I610L	ULK2_ENST00000361658.2_Missense_Mutation_p.I610L|ULK2_ENST00000580130.1_5'Flank	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	610					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)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTTTTAGGGATTTTGAAAGGA	0.413																																						uc002gwm.4																			0				large_intestine(1)|skin(4)|stomach(1)	6						c.(1828-1830)Atc>Ctc		Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.							70.0	69.0	70.0					17																	19699577		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19699577T>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.1828A>C	17.37:g.19699577T>G	ENSP00000378914:p.Ile610Leu					ULK2_uc002gwn.3_Missense_Mutation_p.I610L	p.I610L	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN			18	2337	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		610					A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.1828A>C	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926438	0.73327	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.28255	1.62;1.62	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	M	0.63428	1.95	0.45427	D	0.998405	D	0.53462	0.96	P	0.61592	0.891	T	0.36672	-0.9738	10	0.30078	T	0.28	-16.3367	15.3644	0.74510	0.0:0.0:0.0:1.0	.	610	Q8IYT8	ULK2_HUMAN	L	610	ENSP00000354877:I610L;ENSP00000378914:I610L	ENSP00000354877:I610L	I	-	1	0	ULK2	19640169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.258000	0.78371	2.228000	0.72767	0.533000	0.62120	ATC		0.413	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683	
CNTNAP1	8506	broad.mit.edu	37	17	40847561	40847561	+	Silent	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr17:40847561G>A	ENST00000264638.4	+	19	3232	c.3015G>A	c.(3013-3015)ccG>ccA	p.P1005P	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1005					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.P1005P(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCTTTGAGCCGGGCACCTGGA	0.567																																						uc002iay.3																			1	Substitution - coding silent(1)	p.P1005P(2)	breast(1)	NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3013-3015)ccG>ccA		Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.							65.0	67.0	67.0					17																	40847561		2203	4297	6500	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40847561G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3015G>A	17.37:g.40847561G>A						CNTNAP1_uc010wgs.2_Non-coding_Transcript	p.P1005P	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	18	3231	+		Breast(137;0.000143)	1005						Silent	SNP	ENST00000264638.4	37	c.3015G>A	CCDS11436.1																																																																																				0.567	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632	
TBCD	6904	broad.mit.edu	37	17	80842049	80842049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr17:80842049C>T	ENST00000355528.4	+	15	1634	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	TBCD_ENST00000539345.2_Nonsense_Mutation_p.R502*|TBCD_ENST00000397466.2_Nonsense_Mutation_p.R116*	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	502					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GGTGTTTGACCGAGACATAAA	0.443																																						uc002kfy.1																			0											c.(1504-1506)Cga>Tga		Homo sapiens tubulin folding cofactor D (TBCD), mRNA.							103.0	100.0	101.0					17																	80842049		1917	4131	6048	SO:0001587	stop_gained	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80842049C>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1504C>T	17.37:g.80842049C>T	ENSP00000347719:p.Arg502*					TBCD_uc002kfx.1_Nonsense_Mutation_p.R485*|TBCD_uc002kfz.3_Nonsense_Mutation_p.R502*	p.R502*	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		14	1634	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	502					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Nonsense_Mutation	SNP	ENST00000355528.4	37	c.1504C>T	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	37	6.087877	0.97271	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000397466;ENST00000536182	.	.	.	4.74	4.74	0.60224	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0689	0.86568	0.0:1.0:0.0:0.0	.	.	.	.	X	502;253;116;502	.	.	R	+	1	2	TBCD	78435338	1.000000	0.71417	0.990000	0.47175	0.015000	0.08874	2.716000	0.47219	2.340000	0.79590	0.563000	0.77884	CGA		0.443	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993	
ZNF492	57615	broad.mit.edu	37	19	22846757	22846757	+	Nonsense_Mutation	SNP	G	G	T	rs112130958		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:22846757G>T	ENST00000456783.2	+	4	530	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGTGCACAAAGAATGTTACAA	0.299																																						uc002nqw.3																			0		p.I96K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(286-288)Gaa>Taa		Homo sapiens zinc finger protein 492 (ZNF492), mRNA.							59.0	66.0	64.0					19																	22846757		2040	4220	6260	SO:0001587	stop_gained	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22846757G>T	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.286G>T	19.37:g.22846757G>T	ENSP00000413660:p.Glu96*						p.E96*	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			3	530	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	96					Q08EI7|Q08EI8	Nonsense_Mutation	SNP	ENST00000456783.2	37	c.286G>T	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	14.48	2.548980	0.45383	.	.	ENSG00000229676	ENST00000456783	.	.	.	1.17	-0.265	0.12946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	3.8348	0.08889	0.2785:0.0:0.7215:0.0	.	.	.	.	X	96	.	ENSP00000413660:E96X	E	+	1	0	ZNF492	22638597	0.029000	0.19370	0.001000	0.08648	0.003000	0.03518	0.983000	0.29552	-0.209000	0.10156	-0.511000	0.04467	GAA		0.299	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855	
CEACAM5	1048	broad.mit.edu	37	19	42224052	42224052	+	Missense_Mutation	SNP	G	G	A	rs138799075		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:42224052G>A	ENST00000221992.6	+	7	1810	c.1696G>A	c.(1696-1698)Gca>Aca	p.A566T	CEACAM5_ENST00000405816.1_Missense_Mutation_p.A566T|CEACAM5_ENST00000398599.4_Missense_Mutation_p.A565T|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	566	Ig-like 6.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AAGAAATGACGCAAGAGCCTA	0.522																																						uc002orl.3																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1696-1698)Gca>Aca		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.		A	THR/ALA	2,4404	826.0+/-416.6	0,2,2201	201.0	183.0	189.0		1696	-2.5	0.0	19	dbSNP_134	189	3,8597	819.1+/-406.8	0,3,4297	yes	missense	CEACAM5	NM_004363.2	58	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	benign	566/703	42224052	5,13001	2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224052G>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1696G>A	19.37:g.42224052G>A	ENSP00000221992:p.Ala566Thr					CEACAM5_uc002orj.1_Missense_Mutation_p.A565T	p.A566T	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	6	1817	+			566			Ig-like 6.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1696G>A	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.014|0.014	-1.574856|-1.574856	0.00887|0.00887	4.54E-4|4.54E-4	3.49E-4|3.49E-4	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|.	0.02916|.	4.11;4.11|.	2.54|2.54	-2.46|-2.46	0.06461|0.06461	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.14570|0.14570	0.0352|0.0352	N|N	0.03948|0.03948	-0.315|-0.315	0.09310|0.09310	N|N	1|1	B;B|.	0.16603|.	0.018;0.0|.	B;B|.	0.29524|.	0.103;0.004|.	T|T	0.29274|0.29274	-1.0017|-1.0017	9|5	0.02654|.	T|.	1|.	.|.	10.8788|10.8788	0.46927|0.46927	0.2632:0.0:0.7368:0.0|0.2632:0.0:0.7368:0.0	.|.	566;566|.	P06731;Q53G30|.	CEAM5_HUMAN;.|.	T|H	566;566;284|561	ENSP00000221992:A566T;ENSP00000385072:A566T|.	ENSP00000221992:A566T|.	A|R	+|+	1|2	0|0	CEACAM5|CEACAM5	46915892|46915892	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-2.107000|-2.107000	0.01337|0.01337	-1.248000|-1.248000	0.02503|0.02503	-0.773000|-0.773000	0.03387|0.03387	GCA|CGC		0.522	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363	
KLK11	11012	broad.mit.edu	37	19	51528895	51528895	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:51528895A>G	ENST00000594768.1	-	2	274	c.89T>C	c.(88-90)cTc>cCc	p.L30P	KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000319720.7_5'UTR|KLK11_ENST00000391804.3_5'UTR|KLK11_ENST00000600362.1_5'UTR|KLK11_ENST00000453757.3_5'UTR	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	30						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CATGGCCTGGAGGGGGGAGGA	0.627																																						uc002pvd.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(88-90)cTc>cCc		Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA.							17.0	17.0	17.0					19																	51528895		2202	4298	6500	SO:0001583	missense	11012				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51528895A>G	AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6359	protein-coding gene	gene with protein product		604434	"""kallikrein 11"""	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.89T>C	19.37:g.51528895A>G	ENSP00000473047:p.Leu30Pro					KLK11_uc002pvc.4_5'UTR|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvb.2_5'UTR|KLK11_uc002pvf.1_5'UTR|KLK11_uc010eom.3_5'UTR	p.L30P	NM_144947	NP_006844	Q9UBX7	KLK11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)	1	201	-		all_neural(266;0.026)	30					O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	ENST00000594768.1	37	c.89T>C	CCDS12818.1	.	.	.	.	.	.	.	.	.	.	N	11.35	1.611642	0.28712	.	.	ENSG00000167757	ENST00000319756	D	0.88354	-2.37	3.08	2.07	0.26955	.	.	.	.	.	D	0.86306	0.5901	L	0.34521	1.04	0.21386	N	0.999704	D	0.58970	0.984	P	0.54372	0.75	T	0.75706	-0.3224	9	0.54805	T	0.06	.	5.1794	0.15152	0.865:0.0:0.135:0.0	.	30	Q9UBX7	KLK11_HUMAN	P	30	ENSP00000324414:L30P	ENSP00000324414:L30P	L	-	2	0	KLK11	56220707	0.117000	0.22190	0.179000	0.23059	0.657000	0.38888	0.482000	0.22276	0.588000	0.29660	-0.253000	0.11424	CTC		0.627	KLK11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464314.2	NM_006853	
LILRB2	10288	broad.mit.edu	37	19	54783717	54783717	+	Missense_Mutation	SNP	C	C	T	rs145209585	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:54783717C>T	ENST00000391749.4	-	4	555	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LILRB2_ENST00000434421.1_5'UTR|LILRB2_ENST00000391748.1_Missense_Mutation_p.R95Q|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000314446.5_Missense_Mutation_p.R95Q|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000391746.1_Missense_Mutation_p.R95Q	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	95	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGCCATATCGCCCTGTGTG	0.557																																						uc002qfb.3																			0		p.G94G(1)|p.R95*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(283-285)cGa>cAa		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	173.0	165.0	167.0		284,284	-3.5	0.0	19	dbSNP_134	167	0,8600		0,0,4300	no	missense,missense	LILRB2	NM_001080978.2,NM_005874.3	43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	95/598,95/599	54783717	2,13004	2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783717C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.284G>A	19.37:g.54783717C>T	ENSP00000375629:p.Arg95Gln					LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.R95Q|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.R95Q|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	p.R95Q	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	550	-	Ovarian(34;0.19)		95			Ig-like C2-type 1.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.284G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	4.239	0.043215	0.08196	4.54E-4	0.0	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	1.76	-3.51	0.04696	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.592300	0.04262	N	0.340541	T	0.06917	0.0176	N	0.21545	0.675	0.09310	N	0.999999	P;B;P	0.42692	0.787;0.428;0.456	B;B;B	0.29267	0.1;0.034;0.021	T	0.33954	-0.9848	10	0.25751	T	0.34	.	8.2437	0.31675	0.0:0.66:0.0:0.34	.	95;112;95	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	Q	95	ENSP00000375628:R95Q;ENSP00000319960:R95Q;ENSP00000375629:R95Q;ENSP00000375626:R95Q	ENSP00000319960:R95Q	R	-	2	0	LILRB2	59475529	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-5.777000	0.00099	-1.280000	0.02402	-0.763000	0.03452	CGA		0.557	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1		
HEATR5B	54497	broad.mit.edu	37	2	37295836	37295836	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr2:37295836T>C	ENST00000233099.5	-	8	1260	c.1165A>G	c.(1165-1167)Atg>Gtg	p.M389V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.M389V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	389						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACGGCTTTCATTTGTTTTCCA	0.353																																						uc002rpp.1																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(1165-1167)Atg>Gtg		Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.							73.0	72.0	72.0					2																	37295836		2203	4299	6502	SO:0001583	missense	54497						binding	g.chr2:37295836T>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1165A>G	2.37:g.37295836T>C	ENSP00000233099:p.Met389Val						p.M389V	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			7	1261	-		all_hematologic(82;0.21)	389					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.1165A>G	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.699437	0.48307	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.07688	3.17;3.17	5.47	5.47	0.80525	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.10035	0.0246	L	0.52126	1.63	0.80722	D	1	B	0.28208	0.203	B	0.25506	0.061	T	0.15235	-1.0444	10	0.21014	T	0.42	-22.1435	15.5439	0.76077	0.0:0.0:0.0:1.0	.	389	Q9P2D3	HTR5B_HUMAN	V	389	ENSP00000233099:M389V;ENSP00000346531:M389V	ENSP00000233099:M389V	M	-	1	0	HEATR5B	37149340	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.892000	0.87324	2.072000	0.62099	0.533000	0.62120	ATG		0.353	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	
EIF5B	9669	broad.mit.edu	37	2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr2:99977775_99977777delTGA	ENST00000289371.6	+	4	613_615	c.411_413delTGA	c.(409-414)agtgat>agt	p.D142del		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	142	Poly-Asp.				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)			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						ACTCTGGGAGTGATGATGATGAT	0.345																																					Colon(162;2388 2567 2705 3444)	uc002tab.3																			0		p.D142N(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						c.(409-414)agtgat>agt		Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.																																				SO:0001651	inframe_deletion	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99977775_99977777delTGA	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.411_413delTGA	2.37:g.99977784_99977786delTGA	ENSP00000289371:p.Asp142del						p.D142del	NM_015904	NP_056988	O60841	IF2P_HUMAN			3	595_597	+			142			Poly-Asp.		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	In_Frame_Del	DEL	ENST00000289371.6	37	c.411_413delTGA	CCDS42721.1																																																																																				0.345	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904	
KIF5C	3800	broad.mit.edu	37	2	149793797	149793797	+	Splice_Site	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr2:149793797G>A	ENST00000435030.1	+	4	659		c.e4-1		KIF5C_ENST00000414838.2_Splice_Site			O60282	KIF5C_HUMAN	kinesin family member 5C						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TCGCCCACTAGGGGAAGCTGC	0.512																																						uc010zbu.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.e4-1		Homo sapiens kinesin family member 5C (KIF5C), mRNA.							40.0	38.0	39.0					2																	149793797		1959	4172	6131	SO:0001630	splice_region_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149793797G>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.292-1G>A	2.37:g.149793797G>A							p.G98_splice	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	4	687	+			98			Kinesin-motor.		O95079|Q2YDC5	Splice_Site	SNP	ENST00000435030.1	37	c.292_splice		.	.	.	.	.	.	.	.	.	.	G	24.8	4.574517	0.86542	.	.	ENSG00000168280	ENST00000435030;ENST00000414838	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5302	0.87811	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF5C	149502043	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	9.357000	0.97099	2.512000	0.84698	0.563000	0.77884	.		0.512	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	Intron
SIRPG	55423	broad.mit.edu	37	20	1629729	1629729	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr20:1629729C>A	ENST00000303415.3	-	2	463	c.399G>T	c.(397-399)aaG>aaT	p.K133N	SIRPG_ENST00000381583.2_Missense_Mutation_p.K133N|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.K100N|SIRPG_ENST00000216927.4_Missense_Mutation_p.K133N|SIRPG_ENST00000344103.4_Missense_Mutation_p.K133N	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	133	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTGGTCCAGACTTAAACTCCA	0.493																																						uc002wfm.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(397-399)aaG>aaT		Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.							210.0	185.0	193.0					20																	1629729		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629729C>A	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.399G>T	20.37:g.1629729C>A	ENSP00000305529:p.Lys133Asn					SIRPG_uc002wfn.1_Missense_Mutation_p.K133N|SIRPG_uc002wfo.1_Missense_Mutation_p.K133N	p.K133N	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			1	464	-			133			Ig-like V-type.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.399G>T	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	17.49	3.401679	0.62288	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36	1.93	1.93	0.25924	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.384946	0.25058	N	0.033475	T	0.11196	0.0273	M	0.87328	2.875	0.31239	N	0.69539	D;D;D	0.76494	0.999;0.993;0.995	D;P;P	0.80764	0.994;0.873;0.907	T	0.01108	-1.1449	10	0.62326	D	0.03	.	7.3585	0.26733	0.0:1.0:0.0:0.0	.	133;133;133	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	N	100;133;133;133;133	ENSP00000370992:K100N;ENSP00000342759:K133N;ENSP00000305529:K133N;ENSP00000370995:K133N;ENSP00000216927:K133N	ENSP00000216927:K133N	K	-	3	2	SIRPG	1577729	0.326000	0.24669	0.998000	0.56505	0.530000	0.34684	0.103000	0.15292	1.392000	0.46585	0.195000	0.17529	AAG		0.493	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556	
SIGLEC1	6614	broad.mit.edu	37	20	3673751	3673751	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr20:3673751T>C	ENST00000344754.4	-	14	3535	c.3536A>G	c.(3535-3537)tAc>tGc	p.Y1179C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.Y1179C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1179	Ig-like C2-type 12.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTCCAGGAGGTAGGTCAGGCG	0.682																																						uc002wja.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3535-3537)tAc>tGc		Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.							17.0	23.0	21.0					20																	3673751		2170	4271	6441	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673751T>C	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3536A>G	20.37:g.3673751T>C	ENSP00000341141:p.Tyr1179Cys					SIGLEC1_uc002wiz.4_Missense_Mutation_p.Y1179C|SIGLEC1_uc002wjb.1_5'UTR	p.Y1179C	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			13	3536	-			1179			Ig-like C2-type 12.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3536A>G	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.876000	0.51695	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.22743	1.97;1.94	4.83	2.37	0.29283	Immunoglobulin subtype (1);	0.222908	0.23142	N	0.051452	T	0.28067	0.0692	L	0.36672	1.1	0.34326	D	0.687172	D;D	0.76494	0.999;0.997	P;P	0.62298	0.885;0.9	T	0.30707	-0.9969	10	0.35671	T	0.21	.	9.092	0.36617	0.0:0.0:0.5122:0.4878	.	1179;1179	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	C	1179	ENSP00000341141:Y1179C;ENSP00000202578:Y1179C	ENSP00000202578:Y1179C	Y	-	2	0	SIGLEC1	3621751	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.683000	0.25349	0.810000	0.34279	0.533000	0.62120	TAC		0.682	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	
NTSR1	4923	broad.mit.edu	37	20	61340984	61340984	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr20:61340984G>A	ENST00000370501.3	+	1	796	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	142					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCGGCTGCCGCGGCTACTAC	0.677																																					GBM(37;400 780 6403 19663 35669)	uc002ydf.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(424-426)cGc>cAc		Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.							40.0	45.0	44.0					20																	61340984		2199	4294	6493	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61340984G>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.425G>A	20.37:g.61340984G>A	ENSP00000359532:p.Arg142His						p.R142H	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		0	796	+	Breast(26;3.65e-08)		142					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.425G>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450068	0.84101	.	.	ENSG00000101188	ENST00000370501	T	0.72942	-0.7	5.15	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.66439	2.03	0.36840	D	0.887342	P	0.48350	0.909	B	0.38842	0.283	T	0.69752	-0.5060	10	0.44086	T	0.13	-22.5692	8.8738	0.35332	0.2201:0.0:0.7799:0.0	.	142	P30989	NTR1_HUMAN	H	142	ENSP00000359532:R142H	ENSP00000359532:R142H	R	+	2	0	NTSR1	60811429	0.998000	0.40836	0.979000	0.43373	0.978000	0.69477	3.095000	0.50235	1.176000	0.42840	0.561000	0.74099	CGC		0.677	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1		
TBX1	6899	broad.mit.edu	37	22	19748718	19748718	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:19748718G>T	ENST00000329705.7	+	3	454	c.325G>T	c.(325-327)Ggt>Tgt	p.G109C	TBX1_ENST00000332710.4_Missense_Mutation_p.G109C|TBX1_ENST00000359500.3_Missense_Mutation_p.G109C	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	109					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GAAGGTGGCCGGTGTGAGCGT	0.726																																						uc002zqa.1																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(325-327)Ggt>Tgt		Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.							46.0	31.0	36.0					22																	19748718		2201	4299	6500	SO:0001583	missense	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19748718G>T	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.325G>T	22.37:g.19748718G>T	ENSP00000331176:p.Gly109Cys					TBX1_uc002zqb.3_Missense_Mutation_p.G109C|TBX1_uc002zqc.3_Missense_Mutation_p.G109C	p.G109C	NM_080647	NP_542378	O43435	TBX1_HUMAN			2	454	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	109					C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	c.325G>T	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736563	0.69304	.	.	ENSG00000184058	ENST00000332710;ENST00000329705;ENST00000359500	D;D;D	0.87256	-2.16;-2.1;-2.23	3.46	1.28	0.21552	p53-like transcription factor, DNA-binding (1);	0.239138	0.40640	U	0.001050	D	0.83991	0.5374	N	0.19112	0.55	0.26678	N	0.971592	D;D;D	0.76494	0.992;0.999;0.999	P;D;D	0.63192	0.861;0.912;0.912	T	0.75088	-0.3441	10	0.72032	D	0.01	.	6.2113	0.20631	0.7666:0.0:0.2334:0.0	.	109;109;109	Q152R5;O43435;D9ZGG0	.;TBX1_HUMAN;.	C	109	ENSP00000331791:G109C;ENSP00000331176:G109C;ENSP00000352483:G109C	ENSP00000331176:G109C	G	+	1	0	TBX1	18128718	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.488000	0.45276	0.274000	0.22072	0.289000	0.19496	GGT		0.726	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647	
LZTR1	8216	broad.mit.edu	37	22	21341825	21341825	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:21341825G>A	ENST00000215739.8	+	4	712	c.353G>A	c.(352-354)cGt>cAt	p.R118H	LZTR1_ENST00000389355.3_Missense_Mutation_p.R99H|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	118					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCGGCCCCCCGTTACCACCAC	0.662																																						uc002zto.3																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(352-354)cGt>cAt		Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.							64.0	58.0	60.0					22																	21341825		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21341825G>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.353G>A	22.37:g.21341825G>A	ENSP00000215739:p.Arg118His					LZTR1_uc002ztn.3_Missense_Mutation_p.R77H|LZTR1_uc011ahy.2_Missense_Mutation_p.R99H|LZTR1_uc010gsr.1_5'UTR	p.R118H	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	456	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	118					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.353G>A	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319660	0.95682	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.73789	-0.6;-0.78	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	H	0.95504	3.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.994	D	0.92471	0.5985	10	0.66056	D	0.02	-33.2925	16.4657	0.84078	0.0:0.0:1.0:0.0	.	99;118;77	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	H	77;118;99	ENSP00000215739:R118H;ENSP00000374006:R99H	ENSP00000215739:R118H	R	+	2	0	LZTR1	19671825	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.310000	0.96267	2.746000	0.94184	0.655000	0.94253	CGT		0.662	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	
TFIP11	24144	broad.mit.edu	37	22	26890269	26890269	+	Splice_Site	SNP	A	A	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:26890269A>C	ENST00000407690.1	-	14	2277	c.1994T>G	c.(1993-1995)gTg>gGg	p.V665G	TFIP11_ENST00000405938.1_Splice_Site_p.V665G|SRRD_ENST00000215917.7_3'UTR|TFIP11_ENST00000407431.1_Splice_Site_p.V665G|TFIP11_ENST00000407148.1_Splice_Site_p.V665G	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	665					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGAGCACAGCACCTGCCAAAA	0.463																																						uc003acr.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.e13-1		Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.							84.0	75.0	78.0					22																	26890269		2203	4300	6503	SO:0001630	splice_region_variant	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26890269A>C	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1993-1T>G	22.37:g.26890269A>C						TFIP11_uc003acq.2_Missense_Mutation_p.V24G|TFIP11_uc003acs.2_Splice_Site_p.V665_splice|TFIP11_uc003act.2_Splice_Site_p.V665_splice	p.V665_splice	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN			13	2367	-			665					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.1993_splice	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430413	0.83776	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.3	5.3	0.74995	GC-rich sequence DNA-binding factor domain (1);	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.87617	2.895	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.83275	0.996;0.88	T	0.76921	-0.2780	10	0.56958	D	0.05	-46.0009	14.5888	0.68347	1.0:0.0:0.0:0.0	.	665;24	Q9UBB9;Q9UBB9-2	TFP11_HUMAN;.	G	665;665;665;350;665	ENSP00000384421:V665G;ENSP00000383892:V665G;ENSP00000385861:V665G;ENSP00000384297:V665G	ENSP00000384297:V665G	V	-	2	0	TFIP11	25220269	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.803000	0.91915	2.235000	0.73313	0.533000	0.62120	GTG		0.463	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697	Missense_Mutation
NEFH	4744	broad.mit.edu	37	22	29886360	29886360	+	Missense_Mutation	SNP	C	C	A	rs376751999		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:29886360C>A	ENST00000310624.6	+	4	2764	c.2731C>A	c.(2731-2733)Cct>Act	p.P911T		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	917	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GAAGGAGGCTCCTGCCAAGGT	0.502																																						uc003afo.3																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(2731-2733)Cct>Act		Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.							58.0	62.0	61.0					22																	29886360		2203	4300	6503	SO:0001583	missense	4744				cell death|nervous system development	neurofilament		g.chr22:29886360C>A		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2731C>A	22.37:g.29886360C>A	ENSP00000311997:p.Pro911Thr					KIAA0845_uc003afp.3_5'UTR	p.P911T	NM_021076	NP_066554	P12036	NFH_HUMAN			3	2802	+			917			Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	c.2731C>A	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	C	3.523	-0.097275	0.07010	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.83335	-1.71	5.59	2.32	0.28847	.	0.122512	0.37715	N	0.001973	T	0.77253	0.4103	L	0.60455	1.87	0.31072	N	0.712866	B	0.19706	0.038	B	0.19391	0.025	T	0.75396	-0.3332	10	0.87932	D	0	.	7.3794	0.26847	0.0:0.4202:0.4565:0.1233	.	917	P12036	NFH_HUMAN	T	862;911	ENSP00000311997:P911T	ENSP00000311997:P911T	P	+	1	0	NEFH	28216360	0.001000	0.12720	0.968000	0.41197	0.056000	0.15407	0.162000	0.16501	0.829000	0.34733	0.655000	0.94253	CCT		0.502	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
DEPDC5	9681	broad.mit.edu	37	22	32275577	32275577	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:32275577G>A	ENST00000382112.3	+	37	3915	c.3845G>A	c.(3844-3846)cGc>cAc	p.R1282H	DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1269H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1260H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.A1177T|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R1291H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1191H|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R1291H|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R1260H|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R108H	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1291					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCTTCCAGCGCAAGTGGTTT	0.607																																						uc011alu.2																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(3871-3873)cGc>cAc		Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.							79.0	80.0	80.0					22																	32275577		2105	4220	6325	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32275577G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3845G>A	22.37:g.32275577G>A	ENSP00000371546:p.Arg1282His					DEPDC5_uc011als.2_Missense_Mutation_p.R1191H|DEPDC5_uc003als.3_Missense_Mutation_p.R1260H|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.R1282H|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.R709H|DEPDC5_uc003alw.3_Missense_Mutation_p.R558H|DEPDC5_uc011alx.2_Missense_Mutation_p.R108H|DEPDC5_uc010gwk.3_Missense_Mutation_p.R286H|DEPDC5_uc011aly.2_Missense_Mutation_p.R108H	p.R1291H	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN			37	4074	+			1260					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3872G>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	28.1|28.1	4.894415|4.894415	0.91889|0.91889	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000382105|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	T|T;T;T;T;T;T;T	0.33216|0.32753	1.42|1.44;1.87;1.87;1.81;1.87;1.81;1.87	5.72|5.72	4.71|4.71	0.59529|0.59529	.|Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.125555	.|0.52532	.|N	.|0.000077	T|T	0.45696|0.45696	0.1355|0.1355	L|L	0.44542|0.44542	1.39|1.39	0.48696|0.48696	D|D	0.999694|0.999694	.|D;D;D;D;D;D	.|0.89917	.|0.998;1.0;1.0;0.999;0.998;0.998	.|P;D;D;P;P;P	.|0.69479	.|0.84;0.964;0.949;0.897;0.791;0.791	T|T	0.36792|0.36792	-0.9733|-0.9733	7|10	0.87932|0.48119	D|T	0|0.1	.|.	13.7768|13.7768	0.63059|0.63059	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	.|1291;1191;677;1269;1282;1260	.|B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	T|H	1177|1191;1269;1260;1191;1291;1282;1291;1260;108	ENSP00000371539:A1177T|ENSP00000440210:R1191H;ENSP00000266091:R1269H;ENSP00000383108:R1260H;ENSP00000383105:R1291H;ENSP00000371546:R1282H;ENSP00000371545:R1291H;ENSP00000383107:R1260H	ENSP00000371539:A1177T|ENSP00000266091:R1269H	A|R	+|+	1|2	0|0	DEPDC5|DEPDC5	30605577|30605577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.598000|7.598000	0.82745|0.82745	1.431000|1.431000	0.47355|0.47355	0.651000|0.651000	0.88453|0.88453	GCA|CGC		0.607	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	
STXBP5L	9515	broad.mit.edu	37	3	120871386	120871386	+	Silent	SNP	A	A	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr3:120871386A>G	ENST00000273666.6	+	8	1003	c.732A>G	c.(730-732)gaA>gaG	p.E244E	STXBP5L_ENST00000471454.1_Silent_p.E244E|STXBP5L_ENST00000492541.1_Silent_p.E244E|STXBP5L_ENST00000472879.1_Silent_p.E244E|STXBP5L_ENST00000497029.1_Silent_p.E244E	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	244					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAGAGCAGAACTGAGAGTTT	0.333																																						uc003eec.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(730-732)gaA>gaG		Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.							122.0	122.0	122.0					3																	120871386		1848	4091	5939	SO:0001819	synonymous_variant	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120871386A>G	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.732A>G	3.37:g.120871386A>G						STXBP5L_uc011bji.2_Silent_p.E244E	p.E244E	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	7	872	+			244					Q4G1B4|Q6PIC3	Silent	SNP	ENST00000273666.6	37	c.732A>G	CCDS43137.1																																																																																				0.333	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
PEX5L	51555	broad.mit.edu	37	3	179616029	179616029	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr3:179616029delT	ENST00000467460.1	-	3	429	c.99delA	c.(97-99)aaafs	p.K33fs	PEX5L_ENST00000263962.8_Frame_Shift_Del_p.K31fs|PEX5L_ENST00000465751.1_Frame_Shift_Del_p.K9fs|PEX5L_ENST00000472994.1_Intron|PEX5L_ENST00000476138.1_5'UTR|PEX5L_ENST00000464614.1_5'UTR|PEX5L_ENST00000468741.1_Intron|PEX5L_ENST00000392649.3_5'Flank|PEX5L_ENST00000485199.1_Intron|PEX5L-AS2_ENST00000462801.1_RNA	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	33					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCCTAGAGCCTTTTCCCTATA	0.413																																						uc003fki.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(97-99)aaafs		Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.							90.0	87.0	88.0					3																	179616029		2203	4300	6503	SO:0001589	frameshift_variant	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179616029delT	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.99delA	3.37:g.179616029delT	ENSP00000419975:p.Lys33fs					PEX5L_uc011bqd.1_5'UTR|PEX5L_uc011bqe.1_Intron|PEX5L_uc011bqf.1_5'UTR|PEX5L_uc003fkj.1_Intron|PEX5L_uc010hxd.1_Frame_Shift_Del_p.K31fs|PEX5L_uc011bqg.1_Frame_Shift_Del_p.K9fs|PEX5L_uc011bqh.1_Intron	p.K33fs	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		2	229	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		33					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Frame_Shift_Del	DEL	ENST00000467460.1	37	c.99delA	CCDS3236.1																																																																																				0.413	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559	
MB21D2	151963	broad.mit.edu	37	3	192517421	192517421	+	Missense_Mutation	SNP	T	T	C	rs117555490	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr3:192517421T>C	ENST00000392452.2	-	2	550	c.230A>G	c.(229-231)gAc>gGc	p.D77G		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	77							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						AAGCTTTTGGTCCAGCTTTTG	0.443													T|||	27	0.00539137	0.0	0.0	5008	,	,		20347	0.0268		0.0	False		,,,				2504	0.0					uc011bsp.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(229-231)gAc>gGc		Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.							36.0	34.0	34.0					3																	192517421		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192517421T>C	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.230A>G	3.37:g.192517421T>C	ENSP00000376246:p.Asp77Gly						p.D77G	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN			1	551	-			77					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.230A>G	CCDS3302.2	9	0.004120879120879121	0	0.0	0	0.0	9	0.015734265734265736	0	0.0	T	28.4	4.913345	0.92178	.	.	ENSG00000180611	ENST00000392452	T	0.69926	-0.44	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	L	0.54323	1.7	0.80722	D	1	D	0.67145	0.996	D	0.68192	0.956	T	0.75665	-0.3239	10	0.87932	D	0	.	15.5887	0.76506	0.0:0.0:0.0:1.0	.	77	Q8IYB1	M21D2_HUMAN	G	77	ENSP00000376246:D77G	ENSP00000376246:D77G	D	-	2	0	MB21D2	194000115	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.040000	0.89188	2.275000	0.75901	0.528000	0.53228	GAC		0.443	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496	
NKX3-2	579	broad.mit.edu	37	4	13546023	13546023	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr4:13546023C>T	ENST00000382438.5	-	1	651	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	AC006445.8_ENST00000501050.1_lincRNA	NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	6					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|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 negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGGTGTTGGCGCCGCGCACA	0.771																																						uc003gmx.2																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(16-18)Gcc>Acc		Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.							4.0	5.0	5.0					4																	13546023		1199	2371	3570	SO:0001583	missense	579				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:13546023C>T	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.16G>A	4.37:g.13546023C>T	ENSP00000371875:p.Ala6Thr						p.A6T	NM_001189	NP_001180	P78367	NKX32_HUMAN			0	92	-			6					Q2M2I7	Missense_Mutation	SNP	ENST00000382438.5	37	c.16G>A	CCDS3410.1	.	.	.	.	.	.	.	.	.	.	c	15.44	2.834876	0.50951	.	.	ENSG00000109705	ENST00000382438	D	0.91464	-2.85	3.26	1.46	0.22682	.	0.392920	0.22695	N	0.056762	T	0.75860	0.3907	N	0.08118	0	0.23449	N	0.997653	B	0.06786	0.001	B	0.04013	0.001	T	0.64668	-0.6353	10	0.54805	T	0.06	.	2.9262	0.05785	0.2152:0.5334:0.0:0.2514	.	6	P78367	NKX32_HUMAN	T	6	ENSP00000371875:A6T	ENSP00000371875:A6T	A	-	1	0	NKX3-2	13155121	0.933000	0.31639	0.998000	0.56505	0.997000	0.91878	0.576000	0.23744	0.212000	0.20703	0.550000	0.68814	GCC		0.771	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3		
GEMIN5	25929	broad.mit.edu	37	5	154275813	154275813	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr5:154275813G>C	ENST00000285873.7	-	24	3511	c.3436C>G	c.(3436-3438)Cac>Gac	p.H1146D		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1146					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCCAAGTGTGGTAAGAGGAG	0.547																																						uc003lvx.3																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3436-3438)Cac>Gac		Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.							84.0	77.0	79.0					5																	154275813		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154275813G>C	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3436C>G	5.37:g.154275813G>C	ENSP00000285873:p.His1146Asp					GEMIN5_uc011ddk.1_Missense_Mutation_p.H1145D	p.H1146D	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		23	3519	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1146					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.3436C>G	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521102	0.27211	.	.	ENSG00000082516	ENST00000285873	T	0.73897	-0.79	5.44	4.52	0.55395	.	0.050651	0.85682	D	0.000000	T	0.71846	0.3388	M	0.63843	1.955	0.50632	D	0.99988	B;B	0.29085	0.232;0.232	B;B	0.29176	0.099;0.099	T	0.70528	-0.4847	10	0.49607	T	0.09	-11.2077	13.966	0.64209	0.0:0.0:0.8127:0.1873	.	1145;1146	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	D	1146	ENSP00000285873:H1146D	ENSP00000285873:H1146D	H	-	1	0	GEMIN5	154256006	1.000000	0.71417	0.780000	0.31762	0.371000	0.29859	3.702000	0.54800	1.165000	0.42670	0.462000	0.41574	CAC		0.547	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		
PHYKPL	85007	broad.mit.edu	37	5	177649920	177649920	+	Missense_Mutation	SNP	C	C	T	rs142142484	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr5:177649920C>T	ENST00000308158.5	-	7	868	c.634G>A	c.(634-636)Gct>Act	p.A212T	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	212						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	AGAGACTCAGCGAAGAAGGCT	0.587													C|||	23	0.00459265	0.0174	0.0	5008	,	,		19564	0.0		0.0	False		,,,				2504	0.0					uc003miz.3																			0				breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6						c.(634-636)Gct>Act		Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	C	THR/ALA	31,4375	36.8+/-68.6	1,29,2173	104.0	88.0	93.0		634	3.2	0.0	5	dbSNP_134	93	0,8600		0,0,4300	yes	missense	AGXT2L2	NM_153373.2	58	1,29,6473	TT,TC,CC		0.0,0.7036,0.2384	benign	212/451	177649920	31,12975	2203	4300	6503	SO:0001583	missense	85007					mitochondrion	pyridoxal phosphate binding|transaminase activity	g.chr5:177649920C>T	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.634G>A	5.37:g.177649920C>T	ENSP00000310978:p.Ala212Thr					AGXT2L2_uc003miy.3_5'UTR|AGXT2L2_uc003mjc.3_Missense_Mutation_p.A171T|AGXT2L2_uc003mjb.3_5'UTR|AGXT2L2_uc003mja.3_Non-coding_Transcript|AGXT2L2_uc003mjd.1_Missense_Mutation_p.A70T	p.A212T	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	6	886	-	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	212					A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.634G>A	CCDS4434.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.67	3.673404	0.67928	0.007036	0.0	ENSG00000175309	ENST00000308158	D	0.85556	-2.0	5.34	3.19	0.36642	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.335067	0.35013	N	0.003501	D	0.86385	0.5920	M	0.85373	2.75	0.20703	N	0.999866	D;D	0.63880	0.986;0.993	P;P	0.56700	0.804;0.804	T	0.79734	-0.1679	10	0.59425	D	0.04	.	8.2226	0.31549	0.0:0.7678:0.0:0.2322	.	212;212	A8K7P6;Q8IUZ5	.;AT2L2_HUMAN	T	212	ENSP00000310978:A212T	ENSP00000310978:A212T	A	-	1	0	AGXT2L2	177582526	0.000000	0.05858	0.015000	0.15790	0.841000	0.47740	0.641000	0.24720	1.411000	0.46957	0.563000	0.77884	GCT		0.587	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921	
BMP6	654	broad.mit.edu	37	6	7727630	7727630	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:7727630G>A	ENST00000283147.6	+	1	601	c.442G>A	c.(442-444)Gac>Aac	p.D148N		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	148					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CGCCGACAACGACGAGGACGG	0.731																																						uc003mxu.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(442-444)Gac>Aac		Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.							13.0	14.0	13.0					6																	7727630		2161	4248	6409	SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727630G>A	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.442G>A	6.37:g.7727630G>A	ENSP00000283147:p.Asp148Asn						p.D148N	NM_001718	NP_001709	P22004	BMP6_HUMAN			0	620	+	Ovarian(93;0.0721)		148					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.442G>A	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	G	7.752	0.703640	0.15172	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.75154	-0.91	3.64	2.77	0.32553	Transforming growth factor-beta, N-terminal (1);	0.526708	0.18536	N	0.138352	T	0.30947	0.0781	N	0.16656	0.425	0.20638	N	0.999877	B	0.12630	0.006	B	0.13407	0.009	T	0.23404	-1.0189	10	0.10902	T	0.67	.	9.0002	0.36077	0.1084:0.0:0.8916:0.0	.	148	P22004	BMP6_HUMAN	N	70;148;111	ENSP00000283147:D148N	ENSP00000283147:D148N	D	+	1	0	BMP6	7672629	1.000000	0.71417	0.312000	0.25196	0.185000	0.23345	4.142000	0.58044	0.719000	0.32188	-0.379000	0.06801	GAC		0.731	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718	
NFKBIE	4794	broad.mit.edu	37	6	44229437	44229437	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:44229437C>A	ENST00000275015.5	-	3	1033	c.1034G>T	c.(1033-1035)tGc>tTc	p.C345F		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	345					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCAGCAGGCAGCGGGCACA	0.632																																						uc003oxe.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(1033-1035)tGc>tTc		Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon (NFKBIE), mRNA.							52.0	47.0	49.0					6																	44229437		2203	4300	6503	SO:0001583	missense	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44229437C>A	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.1034G>T	6.37:g.44229437C>A	ENSP00000275015:p.Cys345Phe						p.C345F	NM_004556	NP_004547	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	1059	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		345					Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	c.1034G>T	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833385	0.32421	.	.	ENSG00000146232	ENST00000275015	T	0.61980	0.06	5.28	4.21	0.49690	Ankyrin repeat-containing domain (3);	0.291433	0.33834	N	0.004511	T	0.24699	0.0599	L	0.38175	1.15	0.39141	D	0.962037	B	0.32753	0.383	B	0.32465	0.146	T	0.23619	-1.0183	10	0.09084	T	0.74	-30.5063	3.2491	0.06807	0.1679:0.5418:0.1633:0.127	.	345	O00221	IKBE_HUMAN	F	345	ENSP00000275015:C345F	ENSP00000275015:C345F	C	-	2	0	NFKBIE	44337415	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.283000	0.33237	2.470000	0.83445	0.655000	0.94253	TGC		0.632	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2		
COL19A1	1310	broad.mit.edu	37	6	70589454	70589454	+	5'UTR	SNP	G	G	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:70589454G>T	ENST00000322773.4	+	0	97				COL19A1_ENST00000476656.1_3'UTR	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATGGTTTCAAGGCACAATGAG	0.418																																						uc003pfc.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109								Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.							160.0	124.0	136.0					6																	70589454		2203	4300	6503	SO:0001623	5_prime_UTR_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70589454G>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.-6G>T	6.37:g.70589454G>T								NM_001858	NP_001849	Q14993	COJA1_HUMAN			1		+								Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Translation_Start_Site	SNP	ENST00000322773.4	37		CCDS4970.1																																																																																				0.418	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		
RFPL4B	442247	broad.mit.edu	37	6	112671523	112671523	+	Missense_Mutation	SNP	C	C	T	rs143103700		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:112671523C>T	ENST00000441065.2	+	3	925	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	205	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCCTCGCCTTCGCCGTGTGGG	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		20665	0.0		0.001	False		,,,				2504	0.0					uc003pvx.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14						c.(613-615)Cgc>Tgc		Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA.		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	72.0	67.0	69.0		613	-9.0	0.0	6	dbSNP_134	69	6,8594	5.0+/-18.6	0,6,4294	yes	missense	RFPL4B	NM_001013734.2	180	0,8,6495	TT,TC,CC		0.0698,0.0454,0.0615	benign	205/264	112671523	8,12998	2203	4300	6503	SO:0001583	missense	442247						zinc ion binding	g.chr6:112671523C>T	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.613C>T	6.37:g.112671523C>T	ENSP00000423391:p.Arg205Cys					RFPL4B_uc021zdy.1_Missense_Mutation_p.R205C	p.R205C	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	2	925	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	205			B30.2/SPRY.		A2RU91	Missense_Mutation	SNP	ENST00000441065.2	37	c.613C>T	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	C	7.255	0.604038	0.14002	4.54E-4	6.98E-4	ENSG00000251258	ENST00000441065	T	0.71103	-0.54	4.48	-8.96	0.00761	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	2.793520	0.01584	N	0.021247	T	0.22360	0.0539	N	0.21282	0.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10109	-1.0644	10	0.24483	T	0.36	.	3.2915	0.06950	0.086:0.3126:0.279:0.3224	.	205	Q6ZWI9	RFPLB_HUMAN	C	205	ENSP00000423391:R205C	ENSP00000423391:R205C	R	+	1	0	RFPL4B	112778216	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.751000	0.01821	-3.174000	0.00224	-0.885000	0.02943	CGC		0.448	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734	
DSE	29940	broad.mit.edu	37	6	116757341	116757341	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:116757341C>A	ENST00000331677.3	+	7	2154	c.1710C>A	c.(1708-1710)gaC>gaA	p.D570E	DSE_ENST00000359564.2_Missense_Mutation_p.D570E|DSE_ENST00000452085.3_Missense_Mutation_p.D570E|DSE_ENST00000537543.1_Missense_Mutation_p.D589E			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	570					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCCTTGTAGACCAAATACACC	0.502																																						uc011ebg.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1765-1767)gaC>gaA		Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.							52.0	54.0	53.0					6																	116757341		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116757341C>A	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1710C>A	6.37:g.116757341C>A	ENSP00000332151:p.Asp570Glu					DSE_uc003pws.3_Missense_Mutation_p.D570E|DSE_uc003pwt.3_Missense_Mutation_p.D570E|DSE_uc003pwu.3_Missense_Mutation_p.D237E	p.D589E	NM_013352	NP_037484	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	5	1866	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	570					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.1767C>A	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304054	0.60305	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.42131	0.99;0.98;0.99;0.99	6.01	4.05	0.47172	.	0.042732	0.85682	D	0.000000	T	0.55194	0.1905	M	0.76574	2.34	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.63079	-0.6717	10	0.66056	D	0.02	-25.0831	15.6738	0.77300	0.0:0.9237:0.0:0.0763	.	589;570	B7Z765;Q9UL01	.;DSE_HUMAN	E	570;589;570;570	ENSP00000404049:D570E;ENSP00000441152:D589E;ENSP00000332151:D570E;ENSP00000352567:D570E	ENSP00000332151:D570E	D	+	3	2	DSE	116864034	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.062000	0.41413	0.666000	0.31087	0.650000	0.86243	GAC		0.502	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352	
CLIP2	7461	broad.mit.edu	37	7	73771699	73771699	+	Silent	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr7:73771699G>A	ENST00000395060.1	+	5	1107	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	CLIP2_ENST00000223398.6_Silent_p.E369E|CLIP2_ENST00000361545.5_Silent_p.E369E			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	369						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGCACATTGAGCAGCTGCTGG	0.617																																						uc003uam.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(1105-1107)gaG>gaA		Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.							58.0	39.0	46.0					7																	73771699		2203	4300	6503	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73771699G>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1107G>A	7.37:g.73771699G>A						CLIP2_uc003uan.3_Silent_p.E369E	p.E369E	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			5	1434	+			369					O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.1107G>A	CCDS5569.1																																																																																				0.617	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388	
PRUNE2	158471	broad.mit.edu	37	9	79321219	79321219	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr9:79321219C>G	ENST00000376718.3	-	8	6094	c.5971G>C	c.(5971-5973)Gaa>Caa	p.E1991Q	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E1632Q	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1991					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTTGACCTTCATTAGTTGAA	0.423																																						uc010mpk.3																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(5971-5973)Gaa>Caa		Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.							120.0	104.0	109.0					9																	79321219		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79321219C>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5971G>C	9.37:g.79321219C>G	ENSP00000365908:p.Glu1991Gln					PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.E1813Q	p.E1991Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			7	6095	-			1991					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5971G>C	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.409|7.409	0.634371|0.634371	0.14322|0.14322	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.52295|.	0.67;0.68|.	5.09|5.09	4.19|4.19	0.49359|0.49359	.|.	0.132018|.	0.34700|.	N|.	0.003750|.	T|.	0.48277|.	0.1491|.	M|M	0.64997|0.64997	1.995|1.995	0.30468|0.30468	N|N	0.773602|0.773602	P|.	0.49253|.	0.921|.	B|.	0.42882|.	0.401|.	T|.	0.53940|.	-0.8367|.	10|.	0.23302|.	T|.	0.38|.	-15.6032|-15.6032	4.0749|4.0749	0.09899|0.09899	0.1324:0.5904:0.1284:0.1489|0.1324:0.5904:0.1284:0.1489	.|.	1991|.	Q8WUY3|.	PRUN2_HUMAN|.	Q|S	1991;1632;1990|1312	ENSP00000365908:E1991Q;ENSP00000397425:E1632Q|.	ENSP00000365908:E1991Q|.	E|X	-|-	1|2	0|2	PRUNE2|PRUNE2	78511039|78511039	0.000000|0.000000	0.05858|0.05858	0.097000|0.097000	0.21041|0.21041	0.022000|0.022000	0.10575|0.10575	0.687000|0.687000	0.25407|0.25407	1.468000|1.468000	0.48064|0.48064	0.561000|0.561000	0.74099|0.74099	GAA|TGA		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
DAPK1	1612	broad.mit.edu	37	9	90266587	90266587	+	Missense_Mutation	SNP	C	C	T	rs36214022		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr9:90266587C>T	ENST00000408954.3	+	17	2107	c.1772C>T	c.(1771-1773)cCt>cTt	p.P591L	DAPK1_ENST00000472284.1_Missense_Mutation_p.P591L|DAPK1_ENST00000469640.2_Missense_Mutation_p.P591L|DAPK1_ENST00000491893.1_Missense_Mutation_p.P591L|DAPK1_ENST00000358077.5_Missense_Mutation_p.P591L	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	591			P -> L. {ECO:0000269|Ref.5}.		apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGCAACATGCCTATCGTGGTG	0.498									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.3																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(1771-1773)cCt>cTt		Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.							140.0	143.0	142.0					9																	90266587		2082	4220	6302	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90266587C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1772C>T	9.37:g.90266587C>T	ENSP00000386135:p.Pro591Leu					DAPK1_uc004apd.3_Missense_Mutation_p.P591L|DAPK1_uc011ltg.2_Missense_Mutation_p.P591L|DAPK1_uc011lth.2_Missense_Mutation_p.P328L|DAPK1_uc004apf.1_Missense_Mutation_p.P145L	p.P591L	NM_004938	NP_004929	P53355	DAPK1_HUMAN			16	1910	+			591		P -> L.			B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.1772C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315401	0.81358	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.09	5.1	5.1	0.69264	Ankyrin repeat-containing domain (4);	0.000000	0.52532	D	0.000078	T	0.67135	0.2861	N	0.20845	0.615	0.80722	D	1	P;D;P	0.62365	0.81;0.991;0.954	P;D;P	0.65010	0.498;0.931;0.69	T	0.71159	-0.4674	10	0.66056	D	0.02	.	18.667	0.91493	0.0:1.0:0.0:0.0	rs36214022	591;145;591	B7ZLE7;P53355-2;P53355	.;.;DAPK1_HUMAN	L	591	ENSP00000350785:P591L;ENSP00000417076:P591L;ENSP00000418885:P591L;ENSP00000386135:P591L;ENSP00000419026:P591L	ENSP00000350785:P591L	P	+	2	0	DAPK1	89456407	1.000000	0.71417	0.778000	0.31720	0.426000	0.31534	7.546000	0.82137	2.818000	0.97014	0.655000	0.94253	CCT		0.498	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
