#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADAM33	80332	broad.mit.edu;hgsc.bcm.edu	37	20	3653456	3653456	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr20:3653456G>A	ENST00000356518.2	-	12	1464	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	ADAM33_ENST00000350009.2_Missense_Mutation_p.A408V|ADAM33_ENST00000379861.4_Missense_Mutation_p.A408V|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	408	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A408V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGGGTCCGGGGCATTGGAGAG	0.726																																																	1	Substitution - Missense(1)	kidney(1)											6.0	8.0	8.0					20																	3653456		2032	4036	6068	SO:0001583	missense	80332			AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1223C>T	20.37:g.3653456G>A	ENSP00000348912:p.Ala408Val	Somatic		WXS	Illumina HiSeq	Phase_I	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	g	6.465	0.453995	0.12283	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.64260	-0.09;-0.09;-0.09	4.43	0.204	0.15199	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.37265	0.0997	N	0.11892	0.195	0.09310	N	1	B;B;B	0.16802	0.015;0.019;0.019	B;B;B	0.09377	0.002;0.004;0.004	T	0.19614	-1.0300	9	0.14656	T	0.56	.	7.9882	0.30224	0.5651:0.0:0.4349:0.0	.	408;408;408	Q9BZ11-2;Q9BZ11;A2A2L3	.;ADA33_HUMAN;.	V	408;408;408;288	ENSP00000348912:A408V;ENSP00000369190:A408V;ENSP00000322550:A408V	ENSP00000322550:A408V	A	-	2	0	ADAM33	3601456	0.003000	0.15002	0.001000	0.08648	0.681000	0.39784	0.432000	0.21461	-0.088000	0.12506	0.306000	0.20318	GCC		0.726	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2		NM_025220	
ALMS1	7840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	73680768	73680768	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr2:73680768A>C	ENST00000264448.6	+	8	7222	c.7111A>C	c.(7111-7113)Atg>Ctg	p.M2371L	ALMS1_ENST00000377715.1_Missense_Mutation_p.M2371L|ALMS1_ENST00000409009.1_Missense_Mutation_p.M2329L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2371					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.M2371L(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAAAGTCAGTATGGCATTAGA	0.393																																																	1	Substitution - Missense(1)	kidney(1)											78.0	71.0	73.0					2																	73680768		1875	4118	5993	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7111A>C	2.37:g.73680768A>C	ENSP00000264448:p.Met2371Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	8.246	0.807953	0.16467	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.14391	3.39;3.39;2.51	5.92	-4.86	0.03132	.	2.188850	0.01605	N	0.022232	T	0.10594	0.0259	L	0.29908	0.895	0.09310	N	1	B;B;B	0.21225	0.021;0.053;0.053	B;B;B	0.18871	0.015;0.023;0.023	T	0.27905	-1.0060	10	0.36615	T	0.2	.	8.6973	0.34305	0.5986:0.1125:0.289:0.0	.	2371;2329;2371	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	L	2329;2371;2371	ENSP00000386627:M2329L;ENSP00000264448:M2371L;ENSP00000366944:M2371L	ENSP00000264448:M2371L	M	+	1	0	ALMS1	73534276	0.000000	0.05858	0.000000	0.03702	0.530000	0.34684	-0.342000	0.07801	-1.152000	0.02832	-0.256000	0.11100	ATG		0.393	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120	
ARCN1	372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118454666	118454666	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr11:118454666C>T	ENST00000264028.4	+	4	685	c.590C>T	c.(589-591)gCt>gTt	p.A197V	ARCN1_ENST00000359415.4_Missense_Mutation_p.A238V|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.A109V	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	197					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A197V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGCAGCACAGCTGCCATGATC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											97.0	89.0	92.0					11																	118454666		2200	4295	6495	SO:0001583	missense	372			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.590C>T	11.37:g.118454666C>T	ENSP00000264028:p.Ala197Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218110	0.58560	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.50277	0.75;0.75;0.75	5.89	5.89	0.94794	.	0.319928	0.37304	N	0.002154	T	0.31638	0.0803	N	0.14661	0.345	0.58432	D	0.99999	B;B;B	0.18610	0.02;0.007;0.029	B;B;B	0.15052	0.012;0.005;0.01	T	0.08046	-1.0741	10	0.36615	T	0.2	-7.5208	13.115	0.59295	0.0:0.9264:0.0:0.0736	.	109;238;197	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	V	109;238;197	ENSP00000376599:A109V;ENSP00000352385:A238V;ENSP00000264028:A197V	ENSP00000264028:A197V	A	+	2	0	ARCN1	117959876	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.201000	0.58439	2.797000	0.96272	0.563000	0.77884	GCT		0.488	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			
BMPR1B	658	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	96035969	96035969	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr4:96035969G>T	ENST00000515059.1	+	5	525	c.242G>T	c.(241-243)tGt>tTt	p.C81F	BMPR1B_ENST00000264568.4_Missense_Mutation_p.C81F|BMPR1B_ENST00000502683.1_Missense_Mutation_p.C81F|BMPR1B_ENST00000394931.1_Missense_Mutation_p.C81F|BMPR1B_ENST00000440890.2_Missense_Mutation_p.C111F	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	81					BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.C81F(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GATTTTCAGTGTCGGGTAAGG	0.428																																																	2	Substitution - Missense(2)	kidney(2)											229.0	224.0	226.0					4																	96035969		2203	4300	6503	SO:0001583	missense	658			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.242G>T	4.37:g.96035969G>T	ENSP00000426617:p.Cys81Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067317	0.76301	.	.	ENSG00000138696	ENST00000515059;ENST00000506363;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000502683;ENST00000264568;ENST00000394931	D;D;D;D;D;D;D;D	0.99567	-6.18;-6.18;-6.18;-6.18;-6.18;-6.18;-6.18;-6.18	5.6	5.6	0.85130	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97693	1.0180	10	0.62326	D	0.03	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	81	O00238	BMR1B_HUMAN	F	81;81;81;81;111;81;81;81	ENSP00000426617:C81F;ENSP00000421144:C81F;ENSP00000425444:C81F;ENSP00000421671:C81F;ENSP00000401907:C111F;ENSP00000424693:C81F;ENSP00000264568:C81F;ENSP00000378389:C81F	ENSP00000264568:C81F	C	+	2	0	BMPR1B	96254992	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	8.084000	0.89516	2.820000	0.97059	0.644000	0.83932	TGT		0.428	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3		NM_001203	
BOC	91653	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	112998188	112998188	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr3:112998188A>C	ENST00000495514.1	+	12	2610	c.1906A>C	c.(1906-1908)Atc>Ctc	p.I636L	BOC_ENST00000355385.3_Missense_Mutation_p.I636L|BOC_ENST00000273395.4_Missense_Mutation_p.I637L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	636	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.I636L(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGGGTTCCCAATCCAGTCCTT	0.602																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											79.0	79.0	79.0					3																	112998188		2203	4300	6503	SO:0001583	missense	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1906A>C	3.37:g.112998188A>C	ENSP00000418663:p.Ile636Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	A	32	5.174404	0.94807	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.60797	0.16;0.16;0.16	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.162323	0.53938	D	0.000051	T	0.74390	0.3710	M	0.64630	1.985	0.58432	D	0.999997	B;B	0.28419	0.176;0.211	P;P	0.53649	0.612;0.731	T	0.75258	-0.3381	10	0.62326	D	0.03	.	15.6792	0.77354	1.0:0.0:0.0:0.0	.	637;636	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	L	636;637;636	ENSP00000418663:I636L;ENSP00000273395:I637L;ENSP00000347546:I636L	ENSP00000273395:I637L	I	+	1	0	BOC	114480878	1.000000	0.71417	0.916000	0.36221	0.877000	0.50540	8.722000	0.91452	2.097000	0.63578	0.460000	0.39030	ATC		0.602	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3		NM_033254	
SMIM8	57150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	88046871	88046871	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr6:88046871T>C	ENST00000392863.1	+	3	211	c.122T>C	c.(121-123)cTc>cCc	p.L41P	RP1-102H19.8_ENST00000448282.2_Missense_Mutation_p.L41P|SMIM8_ENST00000608353.1_Missense_Mutation_p.L41P|SMIM8_ENST00000608525.1_Missense_Mutation_p.L41P|SMIM8_ENST00000229570.5_Missense_Mutation_p.L41P|SMIM8_ENST00000608868.1_Missense_Mutation_p.L41P	NM_001042493.1	NP_001035958.1	Q96KF7	SMIM8_HUMAN	small integral membrane protein 8	41						integral component of membrane (GO:0016021)		p.L41P(1)									AATCCAGAGCTCTTCATTAAA	0.393																																																	1	Substitution - Missense(1)	kidney(1)											101.0	103.0	103.0					6																	88046871		2203	4300	6503	SO:0001583	missense	0			AL050201	CCDS34496.1, CCDS75493.1	6q15	2013-06-21	2012-11-20	2012-11-20	ENSG00000111850	ENSG00000111850			21401	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 162"""	C6orf162			Standard	NM_001287445		Approved	DKFZP586E1923, dJ102H19.2	uc003plq.1	Q96KF7	OTTHUMG00000015168	ENST00000392863.1:c.122T>C	6.37:g.88046871T>C	ENSP00000376603:p.Leu41Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2R4V6|E1P505|Q5TEZ3|Q6NSD2|Q8IZ10	Missense_Mutation	SNP	ENST00000392863.1	37	CCDS34496.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.557036	0.86231	.	.	ENSG00000111850	ENST00000392863;ENST00000229570	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.76835	0.4043	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80837	-0.1204	8	0.87932	D	0	-8.2011	16.3453	0.83126	0.0:0.0:0.0:1.0	.	41	Q96KF7	CF162_HUMAN	P	41	.	ENSP00000229570:L41P	L	+	2	0	C6orf162	88103590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.914000	0.75764	2.261000	0.74972	0.533000	0.62120	CTC		0.393	SMIM8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472479.2		NM_020425	
CDT1	81620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	88872184	88872184	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr16:88872184T>G	ENST00000301019.4	+	5	1358	c.739T>G	c.(739-741)Tac>Gac	p.Y247D		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1									p.Y247D(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CCCGGCCTCCTACCGCTTCCG	0.637																																					Melanoma(159;511 3380 30971)												1	Substitution - Missense(1)	kidney(1)											45.0	46.0	45.0					16																	88872184		2198	4300	6498	SO:0001583	missense	81620			AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.739T>G	16.37:g.88872184T>G	ENSP00000301019:p.Tyr247Asp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000301019.4	37	CCDS32510.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996821	0.54147	.	.	ENSG00000167513	ENST00000301019	T	0.30714	1.52	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69146	-0.5222	10	0.87932	D	0	.	14.3931	0.66994	0.0:0.0:0.0:1.0	.	247	Q9H211	CDT1_HUMAN	D	247	ENSP00000301019:Y247D	ENSP00000301019:Y247D	Y	+	1	0	CDT1	87399685	1.000000	0.71417	0.114000	0.21550	0.041000	0.13682	7.481000	0.81124	1.818000	0.53035	0.379000	0.24179	TAC		0.637	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423215.1		NM_030928	
CYP1A2	1544	hgsc.bcm.edu	37	15	75044488	75044489	+	Frame_Shift_Ins	INS	-	-	G	rs147333000|rs55918015	byFrequency	TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr15:75044488_75044489insG	ENST00000343932.4	+	5	1129_1130	c.1066_1067insG	c.(1066-1068)cggfs	p.R356fs		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	356					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CAGGGAGCGGCGGCCCCGGCTC	0.594																																																	0																																										SO:0001589	frameshift_variant	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1068dupG	15.37:g.75044490_75044490dupG	ENSP00000342007:p.Arg356fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Frame_Shift_Ins	INS	ENST00000343932.4	37	CCDS32293.1																																																																																				0.594	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2		NM_000761	
ELP2	55250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	33734957	33734957	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr18:33734957T>G	ENST00000358232.6	+	12	1333	c.1270T>G	c.(1270-1272)Tca>Gca	p.S424A	ELP2_ENST00000351393.6_Missense_Mutation_p.S398A|ELP2_ENST00000350494.6_Missense_Mutation_p.S419A|ELP2_ENST00000423854.2_Missense_Mutation_p.S354A|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000542824.1_Missense_Mutation_p.S354A|ELP2_ENST00000442325.2_Missense_Mutation_p.S489A	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	424					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)		p.S424A(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						AAAAGACCAATCACAGGTAAA	0.408																																																	1	Substitution - Missense(1)	kidney(1)											104.0	104.0	104.0					18																	33734957		2203	4300	6503	SO:0001583	missense	55250			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1270T>G	18.37:g.33734957T>G	ENSP00000350967:p.Ser424Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.738588	0.30774	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.65732	-0.17;2.28;1.06;2.28;-0.01;-0.17	5.68	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.462420	0.22438	N	0.060046	T	0.45875	0.1364	L	0.31526	0.94	0.35684	D	0.814312	B;B;B;B;B;B	0.21606	0.058;0.058;0.009;0.056;0.007;0.009	B;B;B;B;B;B	0.23419	0.017;0.023;0.015;0.046;0.023;0.015	T	0.47032	-0.9148	10	0.10111	T	0.7	-6.6287	10.6411	0.45594	0.0:0.0:0.1607:0.8393	.	419;489;354;354;398;424	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	A	424;398;489;354;419;354	ENSP00000350967:S424A;ENSP00000257191:S398A;ENSP00000414851:S489A;ENSP00000391202:S354A;ENSP00000316051:S419A;ENSP00000443800:S354A	ENSP00000316051:S419A	S	+	1	0	ELP2	31988955	0.602000	0.26916	0.990000	0.47175	0.921000	0.55340	1.307000	0.33516	2.162000	0.67917	0.459000	0.35465	TCA		0.408	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2		NM_018255	
FGFR3	2261	hgsc.bcm.edu	37	4	1807542	1807543	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr4:1807542_1807543insG	ENST00000260795.2	+	12	1813_1814	c.1711_1712insG	c.(1711-1713)cggfs	p.R571fs	FGFR3_ENST00000340107.4_Frame_Shift_Ins_p.R573fs|FGFR3_ENST00000481110.2_Frame_Shift_Ins_p.R572fs|FGFR3_ENST00000412135.2_Frame_Shift_Ins_p.R459fs|FGFR3_ENST00000352904.1_Frame_Shift_Ins_p.R459fs|FGFR3_ENST00000440486.2_Frame_Shift_Ins_p.R571fs			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	571	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	gcgggcgcggcggcccccgggc	0.703		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																															Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"""L, E"""	0																																										SO:0001589	frameshift_variant	2261	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1713dupG	4.37:g.1807544_1807544dupG	ENSP00000260795:p.Arg571fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Frame_Shift_Ins	INS	ENST00000260795.2	37	CCDS3353.1																																																																																				0.703	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142	
GON4L	54856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155732098	155732098	+	Silent	SNP	C	C	A	rs369040451		TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr1:155732098C>A	ENST00000368331.1	-	23	4842	c.4794G>T	c.(4792-4794)cgG>cgT	p.R1598R	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Silent_p.R1598R|GON4L_ENST00000271883.5_Silent_p.R1598R	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1598					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1598R(2)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGCCCGAGCCCGACTTCCCC	0.547																																																	2	Substitution - coding silent(2)	kidney(2)											68.0	68.0	68.0					1																	155732098		2004	4142	6146	SO:0001819	synonymous_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4794G>T	1.37:g.155732098C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37																																																																																					0.547	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_032292	
HCFC2	29915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104476292	104476293	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr12:104476292_104476293insT	ENST00000229330.4	+	6	886_887	c.782_783insT	c.(781-786)ggtggafs	p.G262fs		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	262					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TACATTTTTGGTGGATGGGTCC	0.356																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0																																										SO:0001589	frameshift_variant	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.783dupT	12.37:g.104476293_104476293dupT	ENSP00000229330:p.Gly262fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8Q5|C0H5X3	Frame_Shift_Ins	INS	ENST00000229330.4	37	CCDS9097.1																																																																																				0.356	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1		NM_013320	
HNRNPA0	10949	hgsc.bcm.edu	37	5	137088945	137088946	+	In_Frame_Ins	INS	-	-	GCT	rs78232709|rs201570235|rs548286503	byFrequency	TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr5:137088945_137088946insGCT	ENST00000314940.4	-	1	1093_1094	c.810_811insAGC	c.(808-813)agcggc>agcAGCggc	p.270_271insS		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	270	Gly-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ccgccgccgccgcTCTTCATGG	0.673														38	0.00758786	0.0015	0.013	5008	,	,		9196	0.0		0.0209	False		,,,				2504	0.0061																0										20,3804		3,14,1895						2.6	0.0		dbSNP_131	9	196,7418		14,168,3625	no	coding	HNRNPA0	NM_006805.3		17,182,5520	A1A1,A1R,RR		2.5742,0.523,1.8884				216,11222				SO:0001652	inframe_insertion	10949			U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"""RNA binding motif (RRM) containing"""	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.808_810dupAGC	5.37:g.137088946_137088948dupGCT	ENSP00000316042:p.Ser270_Ser270dup	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IB18	In_Frame_Ins	INS	ENST00000314940.4	37	CCDS4193.1																																																																																				0.673	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1		NM_006805	
IDE	3416	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	94239093	94239093	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr10:94239093A>G	ENST00000265986.6	-	15	1881	c.1825T>C	c.(1825-1827)Tat>Cat	p.Y609H	IDE_ENST00000371581.5_Missense_Mutation_p.Y54H|IDE_ENST00000496903.1_Intron	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	609					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.Y609H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TCTGCTGCATATGCATACTCG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											187.0	160.0	169.0					10																	94239093		2203	4300	6503	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1825T>C	10.37:g.94239093A>G	ENSP00000265986:p.Tyr609His	Somatic		WXS	Illumina HiSeq	Phase_I	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059659	0.76074	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.56444	0.46;0.46	5.64	5.64	0.86602	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.139526	0.49916	D	0.000136	T	0.80160	0.4572	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.86026	0.1510	10	0.87932	D	0	-12.9568	15.5248	0.75894	1.0:0.0:0.0:0.0	.	609	P14735	IDE_HUMAN	H	609;54	ENSP00000265986:Y609H;ENSP00000360637:Y54H	ENSP00000265986:Y609H	Y	-	1	0	IDE	94229073	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.152000	0.67230	0.533000	0.62120	TAT		0.448	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1		NM_004969	
KDM6A	7403	broad.mit.edu;hgsc.bcm.edu	37	X	44928976	44928976	+	Silent	SNP	G	G	A			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chrX:44928976G>A	ENST00000377967.4	+	17	2117	c.2076G>A	c.(2074-2076)caG>caA	p.Q692Q	KDM6A_ENST00000536777.1_Silent_p.Q647Q|KDM6A_ENST00000382899.4_Silent_p.Q699Q|KDM6A_ENST00000543216.1_Silent_p.Q613Q	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	692	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.Q692Q(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAGTAACACAGGGGGCTGCTC	0.517			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	7	Whole gene deletion(6)|Substitution - coding silent(1)	oesophagus(2)|breast(2)|pancreas(2)|kidney(1)											101.0	74.0	83.0					X																	44928976		2203	4300	6503	SO:0001819	synonymous_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2076G>A	X.37:g.44928976G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q52LL9|Q5JVQ7	Silent	SNP	ENST00000377967.4	37	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	5.877	0.345943	0.11126	.	.	ENSG00000147050	ENST00000414389;ENST00000433797	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	T	0.73969	0.3655	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73572	-0.3940	4	.	.	.	-1.0876	17.9308	0.88996	0.0:0.0:1.0:0.0	.	.	.	.	R	290;335	.	.	G	+	1	0	KDM6A	44813920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.328000	0.65887	2.255000	0.74692	0.600000	0.82982	GGG		0.517	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140	
KRT31	3881	broad.mit.edu;hgsc.bcm.edu	37	17	39553695	39553695	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr17:39553695C>T	ENST00000251645.2	-	1	149	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	33	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.G33R(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TTGCAGGCCCCGGGCAGGGTG	0.637																																																	2	Substitution - Missense(2)	kidney(2)											41.0	45.0	44.0					17																	39553695		2203	4300	6503	SO:0001583	missense	3881			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.97G>A	17.37:g.39553695C>T	ENSP00000251645:p.Gly33Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.050482	0.75960	.	.	ENSG00000094796	ENST00000251645	D	0.82167	-1.58	5.82	4.85	0.62838	.	0.000000	0.64402	D	0.000003	D	0.90964	0.7159	M	0.81802	2.56	0.38540	D	0.949199	D	0.89917	1.0	D	0.80764	0.994	D	0.92881	0.6323	10	0.62326	D	0.03	.	15.2224	0.73324	0.1415:0.8585:0.0:0.0	.	33	Q15323	K1H1_HUMAN	R	33	ENSP00000251645:G33R	ENSP00000251645:G33R	G	-	1	0	KRT31	36807221	0.004000	0.15560	0.955000	0.39395	0.782000	0.44232	1.403000	0.34612	1.462000	0.47948	0.655000	0.94253	GGG		0.637	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1		NM_002277	
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	6980564	6980564	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr18:6980564C>T	ENST00000389658.3	-	42	6056	c.5963G>A	c.(5962-5964)aGg>aAg	p.R1988K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1988	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R1988K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATTGGTTTGCCTGGTAATTTC	0.343																																																	1	Substitution - Missense(1)	kidney(1)											197.0	172.0	181.0					18																	6980564		2202	4300	6502	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5963G>A	18.37:g.6980564C>T	ENSP00000374309:p.Arg1988Lys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	7.465	0.645525	0.14451	.	.	ENSG00000101680	ENST00000389658	T	0.15256	2.44	5.15	0.684	0.18003	.	1.389440	0.04448	N	0.372139	T	0.13030	0.0316	L	0.41710	1.295	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33394	-0.9870	10	0.02654	T	1	.	8.4338	0.32775	0.0:0.51:0.0:0.49	.	1988	P25391	LAMA1_HUMAN	K	1988	ENSP00000374309:R1988K	ENSP00000374309:R1988K	R	-	2	0	LAMA1	6970564	0.021000	0.18746	0.241000	0.24154	0.927000	0.56198	0.278000	0.18753	0.265000	0.21872	0.655000	0.94253	AGG		0.343	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559	
LNPEP	4012	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	96315099	96315099	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr5:96315099A>G	ENST00000231368.5	+	2	969	c.277A>G	c.(277-279)Act>Gct	p.T93A	LNPEP_ENST00000395770.3_Missense_Mutation_p.T79A	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	93					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T93A(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAACAGTGCAACTGGTTACAG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											72.0	77.0	76.0					5																	96315099		2203	4300	6503	SO:0001583	missense	4012			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.277A>G	5.37:g.96315099A>G	ENSP00000231368:p.Thr93Ala	Somatic		WXS	Illumina HiSeq	Phase_I	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.106038	0.00356	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.01209	5.17;5.17	6.07	-6.93	0.01638	.	0.930959	0.09278	N	0.824140	T	0.00552	0.0018	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48681	-0.9014	10	0.08599	T	0.76	.	13.609	0.62065	0.6005:0.0:0.3277:0.0718	.	93	Q9UIQ6	LCAP_HUMAN	A	93;79	ENSP00000231368:T93A;ENSP00000379117:T79A	ENSP00000231368:T93A	T	+	1	0	LNPEP	96340855	0.000000	0.05858	0.001000	0.08648	0.384000	0.30261	-1.126000	0.03254	-1.827000	0.01204	-1.463000	0.01021	ACT		0.498	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1		NM_005575	
LONP1	9361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	5699087	5699087	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr19:5699087G>C	ENST00000360614.3	-	10	1793	c.1636C>G	c.(1636-1638)Cgc>Ggc	p.R546G	LONP1_ENST00000590729.1_Missense_Mutation_p.R416G|LONP1_ENST00000585374.1_Missense_Mutation_p.R432G|LONP1_ENST00000593119.1_Missense_Mutation_p.R482G|LONP1_ENST00000540670.2_Missense_Mutation_p.R350G	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial									p.R546G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACGCTGAAGCGGAAGTACTCT	0.647																																																	1	Substitution - Missense(1)	kidney(1)											60.0	52.0	55.0					19																	5699087		2203	4300	6503	SO:0001583	missense	9361			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1636C>G	19.37:g.5699087G>C	ENSP00000353826:p.Arg546Gly	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000360614.3	37	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501487	0.85176	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	D;D	0.93366	-3.21;-3.21	4.73	4.73	0.59995	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	H	0.96805	3.885	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.995	D	0.99187	1.0869	10	0.87932	D	0	-24.7376	15.1874	0.73016	0.0:0.0:1.0:0.0	.	546;482;546	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	G	546;510;350	ENSP00000353826:R546G;ENSP00000441523:R350G	ENSP00000351177:R510G	R	-	1	0	LONP1	5650087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.301000	0.78850	2.183000	0.69458	0.549000	0.68633	CGC		0.647	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1		NM_004793	
MTF1	4520	broad.mit.edu;ucsc.edu	37	1	38323150	38323150	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr1:38323150C>A	ENST00000373036.4	-	2	321	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	MTF1_ENST00000468190.1_5'UTR	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	61					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.E61*(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCGTCATCTTCATCCTCCAAA	0.483																																																	1	Substitution - Nonsense(1)	kidney(1)											147.0	124.0	132.0					1																	38323150		2203	4300	6503	SO:0001587	stop_gained	4520			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.181G>T	1.37:g.38323150C>A	ENSP00000362127:p.Glu61*	Somatic		WXS	Illumina GAIIx	Phase_I	B2RAK6|Q96CB1	Nonsense_Mutation	SNP	ENST00000373036.4	37	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034065	0.93575	.	.	ENSG00000188786	ENST00000373036	.	.	.	5.62	4.71	0.59529	.	0.228776	0.44097	D	0.000497	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	14.7961	0.69878	0.0:0.9306:0.0:0.0694	.	.	.	.	X	61	.	ENSP00000362127:E61X	E	-	1	0	MTF1	38095737	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.194000	0.77789	1.366000	0.46076	0.650000	0.86243	GAA		0.483	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2		NM_005955	
NDUFA13	51079	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19637065	19637065	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr19:19637065C>T	ENST00000507754.4	+	2	653	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	NDUFA13_ENST00000428459.2_Missense_Mutation_p.R57C|YJEFN3_ENST00000436027.5_5'Flank|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.R57C|NDUFA13_ENST00000512771.3_Missense_Mutation_p.R57C|YJEFN3_ENST00000608404.1_Missense_Mutation_p.R57C|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000503283.1_Missense_Mutation_p.R57C|YJEFN3_ENST00000514277.4_5'Flank|NDUFA13_ENST00000252576.5_Missense_Mutation_p.R140C			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	57					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.R140C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GAACCGTGAGCGCAGGTAGGG	0.612																																																	1	Substitution - Missense(1)	kidney(1)											79.0	65.0	70.0					19																	19637065		2203	4300	6503	SO:0001583	missense	51079			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.169C>T	19.37:g.19637065C>T	ENSP00000423673:p.Arg57Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064137	0.55432	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	T;T;T	0.78364	-1.17;-1.17;-1.17	4.58	4.58	0.56647	.	0.056879	0.64402	D	0.000004	D	0.89276	0.6669	M	0.90369	3.11	0.36260	D	0.854516	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.987;0.991	D	0.93240	0.6625	10	0.66056	D	0.02	.	12.9354	0.58311	0.0:1.0:0.0:0.0	.	57;57;57	E7ENQ6;B4DF76;Q9P0J0	.;.;NDUAD_HUMAN	C	57;140;57;57	ENSP00000423673:R57C;ENSP00000252576:R140C;ENSP00000452549:R57C	ENSP00000252576:R140C	R	+	1	0	YJEFN3;NDUFA13;CTC-260F20.3	19498065	0.982000	0.34865	0.956000	0.39512	0.231000	0.25187	1.774000	0.38573	2.112000	0.64535	0.585000	0.79938	CGC		0.612	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6		NM_015965	
NOL6	65083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	33467191	33467191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr9:33467191C>A	ENST00000379471.2	-	14	1882	c.1795G>T	c.(1795-1797)Gaa>Taa	p.E599*	NOL6_ENST00000455041.2_Nonsense_Mutation_p.E547*|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	599					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E599*(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACCACAGCTTCCCGAATGGCT	0.597											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Nonsense(1)	kidney(1)											67.0	73.0	71.0					9																	33467191		2203	4300	6503	SO:0001587	stop_gained	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1795G>T	9.37:g.33467191C>A	ENSP00000368784:p.Glu599*	Somatic	840	WXS	Illumina HiSeq	Phase_I	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Nonsense_Mutation	SNP	ENST00000379471.2	37		.	.	.	.	.	.	.	.	.	.	C	41	8.627248	0.98890	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	.	.	.	X	599;599;599;155;599;547	.	ENSP00000297990:E599X	E	-	1	0	NOL6	33457191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.428000	0.80296	2.755000	0.94549	0.655000	0.94253	GAA		0.597	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2		NM_022917	
PHF12	57649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27251182	27251182	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr17:27251182C>T	ENST00000332830.4	-	4	1270	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	RP11-20B24.5_ENST00000580782.1_RNA|PHF12_ENST00000577226.1_Missense_Mutation_p.A154T|PHF12_ENST00000268756.3_Missense_Mutation_p.A154T|RP11-20B24.5_ENST00000582631.1_RNA|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12									p.A154T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGGATCCGGGCATGGGCAATG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											105.0	85.0	91.0					17																	27251182		2203	4300	6503	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.460G>A	17.37:g.27251182C>T	ENSP00000329933:p.Ala154Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000332830.4	37	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448466	0.96205	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94828	-3.48;-3.53;-3.53	5.69	5.69	0.88448	.	0.052478	0.85682	D	0.000000	D	0.94837	0.8332	L	0.44542	1.39	0.58432	D	0.999998	D;D;D;D	0.60575	0.97;0.982;0.988;0.97	P;P;P;P	0.55615	0.607;0.78;0.76;0.607	D	0.93959	0.7239	10	0.38643	T	0.18	-17.1499	18.3578	0.90364	0.0:1.0:0.0:0.0	.	136;154;154;154	B4DFE2;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;PHF12_HUMAN	T	154	ENSP00000329933:A154T;ENSP00000368157:A154T;ENSP00000268756:A154T	ENSP00000268756:A154T	A	-	1	0	PHF12	24275308	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.456000	0.80751	2.680000	0.91292	0.655000	0.94253	GCC		0.557	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1		NM_020889	
PRSS55	203074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	10396087	10396087	+	Silent	SNP	C	C	G			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr8:10396087C>G	ENST00000328655.3	+	5	883	c.843C>G	c.(841-843)acC>acG	p.T281T	PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	281	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.T281T(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AGAAGAACACCCCAGGGATAT	0.557																																																	2	Substitution - coding silent(2)	kidney(2)											105.0	111.0	109.0					8																	10396087		2203	4300	6503	SO:0001819	synonymous_variant	203074			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.843C>G	8.37:g.10396087C>G		Somatic		WXS	Illumina HiSeq	Phase_I	E5RJX5	Silent	SNP	ENST00000328655.3	37	CCDS5976.1																																																																																				0.557	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3		NM_198464	
PHF20L1	51105	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	133850030	133850030	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr8:133850030T>C	ENST00000395386.2	+	17	2464	c.2165T>C	c.(2164-2166)aTc>aCc	p.I722T	AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.I697T|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.I109T	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	722							zinc ion binding (GO:0008270)	p.I722T(1)|p.I696T(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GAGCAGTACATCTGCTATATC	0.527																																																	2	Substitution - Missense(2)	kidney(2)											110.0	113.0	112.0					8																	133850030		2116	4231	6347	SO:0001583	missense	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2165T>C	8.37:g.133850030T>C	ENSP00000378784:p.Ile722Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	T	4.114	0.019262	0.08006	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T;T	0.44083	0.93;0.93;0.93	5.78	1.92	0.25849	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.468032	0.17828	N	0.160624	T	0.21718	0.0523	N	0.17278	0.47	0.32345	N	0.55928	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.29701	-1.0003	10	0.12103	T	0.63	-26.4125	7.6457	0.28318	0.0:0.0692:0.2652:0.6656	.	697;722	F8W9L8;A8MW92	.;P20L1_HUMAN	T	722;109;697	ENSP00000378784:I722T;ENSP00000220847:I109T;ENSP00000378788:I697T	ENSP00000220847:I109T	I	+	2	0	PHF20L1	133919212	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	2.376000	0.44292	0.088000	0.17205	0.519000	0.50382	ATC		0.527	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3		NM_016018	
RALGAPB	57148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	37150191	37150191	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr20:37150191C>T	ENST00000262879.6	+	10	1753	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	RALGAPB_ENST00000397038.1_Missense_Mutation_p.S268F|RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397040.1_Missense_Mutation_p.S490F|RALGAPB_ENST00000397042.3_Missense_Mutation_p.S490F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	490					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.S490F(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCACAAATGTCCACAGACACC	0.438																																																	1	Substitution - Missense(1)	kidney(1)											171.0	145.0	154.0					20																	37150191		2203	4300	6503	SO:0001583	missense	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1469C>T	20.37:g.37150191C>T	ENSP00000262879:p.Ser490Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440092	0.63067	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.69078	0.994;0.994;0.997;0.994	D;D;D;D	0.80764	0.989;0.989;0.994;0.989	T	0.66563	-0.5892	9	0.11794	T	0.64	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	318;490;490;490	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	F	490;490;490;268;490;318	.	ENSP00000262879:S490F	S	+	2	0	RALGAPB	36583605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.826000	0.97356	0.561000	0.74099	TCC		0.438	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1		NM_020336	
RGS22	26166	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	101014479	101014479	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr8:101014479T>G	ENST00000360863.6	-	18	2935	c.2741A>C	c.(2740-2742)aAa>aCa	p.K914T	RGS22_ENST00000519421.1_5'Flank|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000523437.1_Missense_Mutation_p.K902T|RGS22_ENST00000523287.1_Missense_Mutation_p.K733T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	914	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.K914T(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAAGAAATATTTTTTATTAAG	0.343																																																	2	Substitution - Missense(2)	kidney(2)											80.0	78.0	78.0					8																	101014479		1794	4061	5855	SO:0001583	missense	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2741A>C	8.37:g.101014479T>G	ENSP00000354109:p.Lys914Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665806	0.47677	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.22134	4.51;4.51;4.51;1.97	5.7	3.29	0.37713	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.121961	0.52532	N	0.000079	T	0.27384	0.0672	M	0.73598	2.24	0.29671	N	0.842437	P;P;P	0.52316	0.898;0.898;0.952	P;P;P	0.45310	0.472;0.472;0.476	T	0.26360	-1.0105	10	0.87932	D	0	.	8.4383	0.32799	0.0:0.0679:0.1323:0.7998	.	902;914;733	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	T	914;901;733;902;229	ENSP00000354109:K914T;ENSP00000429382:K733T;ENSP00000428212:K902T;ENSP00000427754:K229T	ENSP00000354109:K914T	K	-	2	0	RGS22	101083655	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.750000	0.55157	0.418000	0.25898	0.528000	0.53228	AAA		0.343	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1		NM_015668	
SAMD9L	219285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92763473	92763473	+	Silent	SNP	T	T	C			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr7:92763473T>C	ENST00000318238.4	-	5	3028	c.1812A>G	c.(1810-1812)ctA>ctG	p.L604L	SAMD9L_ENST00000411955.1_Silent_p.L604L|SAMD9L_ENST00000437805.1_Silent_p.L604L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	604					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.L604L(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTGGTTTGTTAGTTCATCTT	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											98.0	97.0	97.0					7																	92763473		2203	4299	6502	SO:0001819	synonymous_variant	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1812A>G	7.37:g.92763473T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	CCDS34681.1																																																																																				0.358	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1		NM_152703	
EIF4A1	1973	broad.mit.edu;hgsc.bcm.edu	37	17	7480257	7480257	+	Intron	SNP	T	T	A			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr17:7480257T>A	ENST00000293831.8	+	6	530				EIF4A1_ENST00000582746.1_Intron|SNORA48_ENST00000386847.1_RNA|CD68_ENST00000250092.6_5'Flank|EIF4A1_ENST00000577269.1_Intron|CD68_ENST00000380498.6_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA|SNORA67_ENST00000384423.1_RNA|SNORD10_ENST00000459579.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1						cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GATCAGTCTTTGTACTCTGAG	0.507																																					Melanoma(120;278 1668 15796 27423 46368)												0													48.0	44.0	45.0					17																	7480257		876	1991	2867	SO:0001627	intron_variant	652966			D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.515-117T>A	17.37:g.7480257T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	RNA	SNP	ENST00000293831.8	37	CCDS11113.1																																																																																				0.507	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6		NM_001416	
SNTG1	54212	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	51415372	51415372	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr8:51415372C>T	ENST00000522124.1	+	9	1059	c.398C>T	c.(397-399)aCt>aTt	p.T133I	SNTG1_ENST00000518864.1_Missense_Mutation_p.T133I|SNTG1_ENST00000276467.5_Missense_Mutation_p.T133I|SNTG1_ENST00000517473.1_Missense_Mutation_p.T133I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	133	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.T133I(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GAAGAAGTGACTCTAACAGTG	0.333																																																	2	Substitution - Missense(2)	kidney(2)											80.0	78.0	78.0					8																	51415372		2203	4299	6502	SO:0001583	missense	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.398C>T	8.37:g.51415372C>T	ENSP00000429842:p.Thr133Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309189	0.60414	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.86	3.04	0.35103	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	L	0.55213	1.73	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.81914	0.982;0.995	T	0.38329	-0.9666	10	0.48119	T	0.1	.	12.9287	0.58275	0.2953:0.7047:0.0:0.0	.	133;133	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	I	133	ENSP00000429276:T133I;ENSP00000429842:T133I;ENSP00000431123:T133I;ENSP00000276467:T133I	ENSP00000276467:T133I	T	+	2	0	SNTG1	51577925	1.000000	0.71417	0.513000	0.27749	0.862000	0.49288	3.559000	0.53756	0.548000	0.28955	-0.152000	0.13540	ACT		0.333	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			
TCTEX1D2	255758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	196022891	196022891	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr3:196022891C>T	ENST00000325318.5	-	4	502	c.367G>A	c.(367-369)Gat>Aat	p.D123N	RP11-447L10.1_ENST00000431391.1_Intron	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	123								p.D123N(1)		breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		ATGAAAACATCATGAGTATAG	0.378																																																	1	Substitution - Missense(1)	kidney(1)											119.0	110.0	113.0					3																	196022891		2203	4300	6503	SO:0001583	missense	255758			BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.367G>A	3.37:g.196022891C>T	ENSP00000324323:p.Asp123Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A6NCN5	Missense_Mutation	SNP	ENST00000325318.5	37	CCDS33929.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310807	0.81358	.	.	ENSG00000213123	ENST00000325318	T	0.29142	1.58	4.69	4.69	0.59074	.	0.091999	0.42682	U	0.000677	T	0.49457	0.1558	M	0.87456	2.885	0.42318	D	0.992247	P	0.46859	0.885	P	0.52031	0.688	T	0.50742	-0.8792	10	0.25751	T	0.34	-9.5964	13.3107	0.60378	0.0:1.0:0.0:0.0	.	123	Q8WW35	TC1D2_HUMAN	N	123	ENSP00000324323:D123N	ENSP00000324323:D123N	D	-	1	0	TCTEX1D2	197507288	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.137000	0.64789	2.581000	0.87130	0.655000	0.94253	GAT		0.378	TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341166.1		NM_152773	
TMPO	7112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	98927778	98927778	+	Intron	SNP	G	G	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr12:98927778G>T	ENST00000556029.1	+	3	921				TMPO_ENST00000343315.5_Intron|TMPO_ENST00000266732.4_Missense_Mutation_p.Q581H|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.Q581H(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGCATTGCAGATTGCAACTC	0.493																																																	1	Substitution - Missense(1)	kidney(1)											90.0	72.0	78.0					12																	98927778		2203	4300	6503	SO:0001627	intron_variant	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+2162G>T	12.37:g.98927778G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818741	0.50633	.	.	ENSG00000120802	ENST00000266732	T	0.60797	0.16	5.96	4.15	0.48705	.	0.299365	0.29212	N	0.012804	T	0.58438	0.2122	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	D	0.65140	0.932	T	0.60281	-0.7294	10	0.72032	D	0.01	.	9.0139	0.36157	0.1677:0.0:0.8323:0.0	.	581	P42166	LAP2A_HUMAN	H	581	ENSP00000266732:Q581H	ENSP00000266732:Q581H	Q	+	3	2	TMPO	97451909	1.000000	0.71417	0.734000	0.30879	0.983000	0.72400	1.512000	0.35812	0.859000	0.35456	0.655000	0.94253	CAG		0.493	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2		NM_003276	
TUBB4B	10383	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	140137408	140137408	+	Silent	SNP	C	C	A	rs151064868		TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr9:140137408C>A	ENST00000340384.4	+	4	886	c.738C>A	c.(736-738)ctC>ctA	p.L246L		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	246					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)	p.L246L(1)								Albendazole(DB00518)|Mebendazole(DB00643)	CAGGCCAGCTCAATGCTGACC	0.627																																																	1	Substitution - coding silent(1)	kidney(1)						C		0,4398		0,0,2199	32.0	33.0	33.0		738	2.2	1.0	9	dbSNP_134	33	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	TUBB2C	NM_006088.5		0,1,6493	AA,AC,CC		0.0116,0.0,0.0077		246/446	140137408	1,12987	2199	4295	6494	SO:0001819	synonymous_variant	0			BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.738C>A	9.37:g.140137408C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A2BFA2|P05217	Silent	SNP	ENST00000340384.4	37	CCDS7039.1																																																																																				0.627	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1		NM_006088	
TXNIP	10628	broad.mit.edu;ucsc.edu	37	1	145438912	145438912	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr1:145438912A>G	ENST00000369317.4	+	1	444	c.110A>G	c.(109-111)gAa>gGa	p.E37G	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	37					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.E37G(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGGTGTGTGAAGTTACTCGT	0.522																																																	1	Substitution - Missense(1)	kidney(1)											163.0	143.0	150.0					1																	145438912		2203	4300	6503	SO:0001583	missense	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.110A>G	1.37:g.145438912A>G	ENSP00000358323:p.Glu37Gly	Somatic		WXS	Illumina GAIIx	Phase_I	B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	CCDS913.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.950245	0.53186	.	.	ENSG00000117289	ENST00000369317	T	0.15017	2.46	5.74	5.74	0.90152	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.049982	0.85682	D	0.000000	T	0.06645	0.0170	L	0.37507	1.11	0.80722	D	1	B	0.26708	0.157	B	0.24974	0.057	T	0.19647	-1.0299	10	0.20046	T	0.44	2.7159	13.9793	0.64295	1.0:0.0:0.0:0.0	.	37	Q9H3M7	TXNIP_HUMAN	G	37	ENSP00000358323:E37G	ENSP00000358323:E37G	E	+	2	0	TXNIP	144150269	1.000000	0.71417	0.816000	0.32577	0.964000	0.63967	8.495000	0.90481	2.197000	0.70478	0.533000	0.62120	GAA		0.522	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1		NM_006472	
VAT1	10493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41169909	41169909	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr17:41169909T>A	ENST00000420567.3	-	4	548	c.403A>T	c.(403-405)Act>Tct	p.T135S	VAT1_ENST00000587173.1_Missense_Mutation_p.T201S|VAT1_ENST00000355653.3_Missense_Mutation_p.T269S			P54219	VMAT1_HUMAN	vesicle amine transport 1	0					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.T269S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	CCCTTGGCAGTATCTGACCCA	0.552																																																	1	Substitution - Missense(1)	kidney(1)											116.0	99.0	105.0					17																	41169909		2203	4300	6503	SO:0001583	missense	10493			U18009	CCDS11451.1	17q21	2013-08-23	2013-08-23			ENSG00000108828			16919	protein-coding gene	gene with protein product		604631	"""vesicle amine transport protein 1 homolog (T. californica)"""			7774926, 8938427	Standard	NM_006373		Approved	VATI, FLJ20230	uc002icm.1	Q99536		ENST00000420567.3:c.403A>T	17.37:g.41169909T>A	ENSP00000408553:p.Thr135Ser	Somatic		WXS	Illumina HiSeq	Phase_I	E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000420567.3	37		.	.	.	.	.	.	.	.	.	.	T	15.06	2.722054	0.48728	.	.	ENSG00000108828	ENST00000355653;ENST00000542468;ENST00000420567	T;T	0.03982	3.74;3.74	5.38	5.38	0.77491	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.047350	0.85682	D	0.000000	T	0.06872	0.0175	L	0.49513	1.565	0.58432	D	0.999999	P;B	0.40398	0.716;0.417	B;B	0.39068	0.289;0.27	T	0.46638	-0.9177	10	0.20046	T	0.44	-0.2776	15.3917	0.74751	0.0:0.0:0.0:1.0	.	201;269	B4DPX4;Q99536	.;VAT1_HUMAN	S	269;176;135	ENSP00000347872:T269S;ENSP00000408553:T135S	ENSP00000347872:T269S	T	-	1	0	VAT1	38423435	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.024000	0.88770	2.035000	0.60131	0.379000	0.24179	ACT		0.552	VAT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453104.1		NM_006373	
ADAMTS10	81794	broad.mit.edu	37	19	8651052	8651052	+	Missense_Mutation	SNP	G	G	T	rs200370843		TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr19:8651052G>T	ENST00000597188.1	-	22	2884	c.2614C>A	c.(2614-2616)Ctg>Atg	p.L872M	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.L872M|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.L359M	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	872	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L872M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTTTTGGGCAGCTTGCTGTGG	0.672											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2614C>A	19.37:g.8651052G>T	ENSP00000471851:p.Leu872Met	Somatic	81	WXS	Illumina GAIIx	Phase_I	M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208318	0.39003	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.61392	0.11	4.14	3.09	0.35607	.	0.297372	0.29335	U	0.012455	T	0.28632	0.0709	N	0.04880	-0.145	0.28154	N	0.929281	B;B;B	0.31026	0.304;0.121;0.23	B;B;B	0.27076	0.076;0.063;0.053	T	0.15636	-1.0430	10	0.66056	D	0.02	.	2.2309	0.03996	0.1033:0.1625:0.4193:0.315	.	626;872;359	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	M	872;626	ENSP00000270328:L872M	ENSP00000270328:L872M	L	-	1	2	ADAMTS10	8557052	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.702000	0.47102	0.918000	0.36919	0.561000	0.74099	CTG		0.672	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3		NM_030957	
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																																	13	Substitution - Missense(13)	kidney(6)|endometrium(4)|prostate(3)											37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			
ABHD16B	140701	broad.mit.edu	37	20	62493290	62493290	+	Missense_Mutation	SNP	C	C	A	rs199604302		TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr20:62493290C>A	ENST00000369916.3	+	1	725	c.397C>A	c.(397-399)Cgc>Agc	p.R133S	C20ORF135_ENST00000601296.1_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	133							hydrolase activity (GO:0016787)	p.R133S(2)		endometrium(2)|kidney(1)|lung(3)	6						GGGCCAAGAGCGCCTCGTGGA	0.711																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											8.0	11.0	10.0					20																	62493290		2085	4115	6200	SO:0001583	missense	0				CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.397C>A	20.37:g.62493290C>A	ENSP00000358932:p.Arg133Ser	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000369916.3	37	CCDS13539.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077356	0.55753	.	.	ENSG00000183260	ENST00000369916	T	0.46063	0.88	4.72	4.72	0.59763	.	0.229126	0.35349	U	0.003262	T	0.51822	0.1697	M	0.66939	2.045	0.40369	D	0.979324	P	0.49253	0.921	P	0.49752	0.621	T	0.58233	-0.7672	10	0.52906	T	0.07	0.78	15.167	0.72837	0.0:1.0:0.0:0.0	.	133	Q9H3Z7	ABHGB_HUMAN	S	133	ENSP00000358932:R133S	ENSP00000358932:R133S	R	+	1	0	ABHD16B	61963734	0.999000	0.42202	1.000000	0.80357	0.908000	0.53690	2.238000	0.43070	2.167000	0.68274	0.591000	0.81541	CGC		0.711	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			
ITSN1	6453	broad.mit.edu	37	21	35153771	35153771	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr21:35153771C>A	ENST00000381318.3	+	15	1891	c.1603C>A	c.(1603-1605)Cag>Aag	p.Q535K	ITSN1_ENST00000399338.4_Missense_Mutation_p.Q535K|ITSN1_ENST00000399352.1_Missense_Mutation_p.Q535K|ITSN1_ENST00000399367.3_Missense_Mutation_p.Q535K|ITSN1_ENST00000399349.1_Missense_Mutation_p.Q535K|ITSN1_ENST00000399353.1_Missense_Mutation_p.Q498K|ITSN1_ENST00000399355.2_Missense_Mutation_p.Q535K|ITSN1_ENST00000381285.4_Missense_Mutation_p.Q535K|ITSN1_ENST00000399326.3_Missense_Mutation_p.Q535K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.Q535K|ITSN1_ENST00000381291.4_Missense_Mutation_p.Q535K|ITSN1_ENST00000379960.5_Missense_Mutation_p.Q535K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	535	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q535K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CCAGGAATCTCAGCAAATGCT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											113.0	111.0	112.0					21																	35153771		2203	4300	6503	SO:0001583	missense	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1603C>A	21.37:g.35153771C>A	ENSP00000370719:p.Gln535Lys	Somatic		WXS	Illumina GAIIx	Phase_I	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810671	0.90707	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.39997	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;1.83;2.58;2.58;1.05	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.59436	1.845	0.80722	D	1	D;D;P;P;P;D;P;P;P;D	0.63880	0.984;0.972;0.924;0.885;0.891;0.993;0.934;0.934;0.841;0.972	P;P;P;P;B;D;P;P;P;P	0.67548	0.724;0.655;0.9;0.599;0.387;0.952;0.53;0.53;0.583;0.655	T	0.61729	-0.7003	10	0.54805	T	0.06	.	19.3849	0.94553	0.0:1.0:0.0:0.0	.	498;498;498;535;535;535;535;535;535;498	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	K	498;535;535;535;535;535;535;535;535;535;535;535;535;535	ENSP00000382290:Q498K;ENSP00000370719:Q535K;ENSP00000370691:Q535K;ENSP00000370685:Q535K;ENSP00000382301:Q535K;ENSP00000382289:Q535K;ENSP00000382292:Q535K;ENSP00000382286:Q535K;ENSP00000382275:Q535K;ENSP00000387377:Q535K;ENSP00000382265:Q535K;ENSP00000369294:Q535K	ENSP00000369294:Q535K	Q	+	1	0	ITSN1	34075641	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.603000	0.82811	2.632000	0.89209	0.557000	0.71058	CAG		0.383	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4		NM_003024	
LRRC37A2	474170	broad.mit.edu	37	17	44625842	44625842	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr17:44625842delG	ENST00000576629.1	+	10	3832	c.3337delG	c.(3337-3339)gagfs	p.E1113fs	ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_Frame_Shift_Del_p.E1113fs			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1113						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CACCAATGACGAGAGTGATTT	0.453																																																	0													2.0	2.0	2.0					17																	44625842		611	1784	2395	SO:0001589	frameshift_variant	474170			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3337delG	17.37:g.44625842delG	ENSP00000459551:p.Glu1113fs	Somatic		WXS	Illumina GAIIx	Phase_I	B7ZMC3	Frame_Shift_Del	DEL	ENST00000576629.1	37	CCDS42353.1																																																																																				0.453	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2		NM_001006607	
RSPH10B	222967	broad.mit.edu	37	7	6006558	6006558	+	Missense_Mutation	SNP	C	C	T	rs150311566		TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr7:6006558C>T	ENST00000405415.1	-	2	576	c.190G>A	c.(190-192)Gtt>Att	p.V64I	RSPH10B_ENST00000404406.1_Missense_Mutation_p.V64I|RSPH10B_ENST00000337579.3_Missense_Mutation_p.V64I|RSPH10B_ENST00000441023.2_Missense_Mutation_p.V64I			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	64								p.V64I(1)		breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TTCTGCTGAACGTTTTGGCGG	0.488													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19194	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						T	ILE/VAL	0,4176		0,0,2088	184.0	128.0	148.0		190	-8.3	0.0	7	dbSNP_134	148	1,7577		0,1,3788	no	missense	RSPH10B	NM_173565.3	29	0,1,5876	TT,TC,CC		0.0132,0.0,0.0085	benign	64/871	6006558	1,11753	2088	3789	5877	SO:0001583	missense	728194				CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.190G>A	7.37:g.6006558C>T	ENSP00000385443:p.Val64Ile	Somatic		WXS	Illumina GAIIx	Phase_I	A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000405415.1	37	CCDS34598.1	.	.	.	.	.	.	.	.	.	.	C	7.049	0.564071	0.13498	0.0	1.32E-4	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000441023	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	4.13	-8.26	0.01021	.	29.591000	0.00166	N	0.000000	T	0.23846	0.0577	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.22556	-1.0213	10	0.19590	T	0.45	.	8.3679	0.32397	0.0:0.399:0.1893:0.4116	.	64	P0C881	R10B1_HUMAN	I	64	ENSP00000385443:V64I;ENSP00000384097:V64I;ENSP00000338556:V64I;ENSP00000400988:V64I	ENSP00000338556:V64I	V	-	1	0	RSPH10B	5973084	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.451000	0.06795	-3.516000	0.00148	-3.442000	0.00036	GTT		0.488	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2		NM_173565	
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	lincRNA	SNP	T	T	A	rs6583274	byFrequency	TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884									long intergenic non-protein coding RNA 969																		CCCTTTGAGGTGCACTGGAGG	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		36746	0.1855		0.16	False		,,,				2504	0.1748																0																																												727956			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410687T>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000445430.1	37																																																																																					0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			
TNRC18	84629	broad.mit.edu	37	7	5364768	5364768	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr7:5364768delT	ENST00000430969.1	-	20	6607	c.6259delA	c.(6259-6261)aggfs	p.R2087fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.R2087fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2087							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCTTTGCTCCTTTTGGCAGCG	0.672																																																	0													21.0	21.0	21.0					7																	5364768		1510	3452	4962	SO:0001589	frameshift_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6259delA	7.37:g.5364768delT	ENSP00000395538:p.Arg2087fs	Somatic		WXS	Illumina GAIIx	Phase_I	A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	CCDS47534.1																																																																																				0.672	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				
DNAJC4	3338	broad.mit.edu	37	11	63998312	63998312	+	5'UTR	SNP	T	T	C			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr11:63998312T>C	ENST00000321685.3	+	0	451				RP11-783K16.14_ENST00000539963.1_RNA|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000321460.5_5'UTR|DNAJC4_ENST00000355040.4_5'UTR	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4						protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						CTTTCCCAGCTGCCCGCCCGC	0.711																																																	0													8.0	11.0	10.0					11																	63998312		1910	4073	5983	SO:0001623	5_prime_UTR_variant	0			AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792	ENST00000321685.3:c.-15T>C	11.37:g.63998312T>C		Somatic		WXS	Illumina GAIIx	Phase_I	O14716	Missense_Mutation	SNP	ENST00000321685.3	37	CCDS41666.1																																																																																				0.711	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			
ZSCAN10	84891	broad.mit.edu	37	16	3139570	3139570	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr16:3139570G>A	ENST00000252463.2	-	5	1787	c.1700C>T	c.(1699-1701)gCc>gTc	p.A567V	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.A228V|RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.A485V	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	567					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A567V(1)		breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CTGGTGGCGGGCCAGATCCTG	0.731																																																	1	Substitution - Missense(1)	kidney(1)											8.0	9.0	9.0					16																	3139570		2166	4213	6379	SO:0001583	missense	84891			AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1700C>T	16.37:g.3139570G>A	ENSP00000252463:p.Ala567Val	Somatic		WXS	Illumina GAIIx	Phase_I	B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.520039	0.00967	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.16897	2.31	5.34	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.546317	0.16839	N	0.197403	T	0.04815	0.0130	N	0.02539	-0.55	0.20975	N	0.999817	B;B;B	0.24823	0.004;0.112;0.044	B;B;B	0.10450	0.001;0.003;0.005	T	0.39981	-0.9587	10	0.12103	T	0.63	-15.062	4.6089	0.12391	0.1888:0.2086:0.6026:0.0	.	228;500;567	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	V	500;567	ENSP00000252463:A567V	ENSP00000252463:A567V	A	-	2	0	ZSCAN10	3079571	0.000000	0.05858	0.948000	0.38648	0.262000	0.26303	0.216000	0.17585	2.504000	0.84457	0.561000	0.74099	GCC		0.731	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2		NM_032805	
