#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_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_ORegAnno_bin	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
SLC39A12	221074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	18276464	18276464	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr10:18276464A>G	ENST00000377369.2	+	7	1426	c.1153A>G	c.(1153-1155)Aca>Gca	p.T385A	SLC39A12_ENST00000377374.4_Missense_Mutation_p.T385A|SLC39A12_ENST00000539911.1_Missense_Mutation_p.T251A|SLC39A12_ENST00000377371.3_Missense_Mutation_p.T385A	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	385					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CATGCTGGGGACAGCGCTGGT	0.557																																																0													150.0	114.0	126.0					10																	18276464		2203	4300	6503	SO:0001583	missense	221074				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1153A>G	10.37:g.18276464A>G	ENSP00000366586:p.Thr385Ala		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.315600	0.23908	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.84	2.0	0.26442	.	0.360528	0.32175	N	0.006477	T	0.13628	0.0330	N	0.02345	-0.59	0.36500	D	0.868938	B;B;B	0.21821	0.035;0.011;0.061	B;B;B	0.20184	0.015;0.018;0.028	T	0.05599	-1.0875	10	0.23891	T	0.37	-11.17	2.002	0.03469	0.5917:0.1376:0.139:0.1316	.	385;385;385	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	A	385;385;385;251;305	ENSP00000366586:T385A;ENSP00000366591:T385A;ENSP00000366588:T385A;ENSP00000440445:T251A	ENSP00000366586:T385A	T	+	1	0	SLC39A12	18316470	1.000000	0.71417	0.968000	0.41197	0.869000	0.49853	3.243000	0.51392	0.458000	0.26988	0.533000	0.62120	ACA		0.557	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		7	91	7	91
SLIT1	6585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	98924609	98924609	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr10:98924609T>C	ENST00000266058.4	-	2	481	c.236A>G	c.(235-237)aAt>aGt	p.N79S	SLIT1_ENST00000371070.4_Missense_Mutation_p.N79S|SLIT1_ENST00000456008.2_5'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.N79S|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.M505V	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	79					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCAAAGTCATTCTTATGGAT	0.622																																																0													157.0	133.0	142.0					10																	98924609		2203	4300	6503	SO:0001583	missense	100533184			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.236A>G	10.37:g.98924609T>C	ENSP00000266058:p.Asn79Ser		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.70|13.70	2.314405|2.314405	0.40996|0.40996	.|.	.|.	ENSG00000213390|ENSG00000187122	ENST00000453547|ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T|T;T;T;T	0.06933|0.55234	3.24|0.53;0.53;1.88;0.53	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.048752	.|0.85682	.|D	.|0.000000	T|T	0.38401|0.38401	0.1039|0.1039	N|N	0.21583|0.21583	0.68|0.68	0.47778|0.47778	D|D	0.999512|0.999512	.|B;B;B	.|0.12013	.|0.001;0.001;0.005	.|B;B;B	.|0.12837	.|0.006;0.004;0.008	T|T	0.17561|0.17561	-1.0365|-1.0365	7|10	0.44086|0.28530	T|T	0.13|0.3	.|.	13.4236|13.4236	0.61011|0.61011	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|79;79;79	.|E7EWQ8;O75093-2;O75093	.|.;.;SLIT1_HUMAN	V|S	505|79;79;79;79;62;79;79	ENSP00000414774:M505V|ENSP00000266058:N79S;ENSP00000360109:N79S;ENSP00000315005:N62S;ENSP00000360080:N79S	ENSP00000414774:M505V|ENSP00000266058:N79S	M|N	-|-	1|2	0|0	ARHGAP19|SLIT1	98914599|98914599	0.986000|0.986000	0.35501|0.35501	0.991000|0.991000	0.47740|0.47740	0.980000|0.980000	0.70556|0.70556	1.954000|1.954000	0.40362|0.40362	2.002000|2.002000	0.58637|0.58637	0.459000|0.459000	0.35465|0.35465	ATG|AAT		0.622	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		102	119	102	119
OR56A1	120796	hgsc.bcm.edu;broad.mit.edu	37	11	6048480	6048480	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:6048480C>A	ENST00000316650.5	-	1	491	c.455G>T	c.(454-456)aGt>aTt	p.S152I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGAAGACACTAGCTTTGGC	0.493																																																0													151.0	129.0	137.0					11																	6048480		2201	4296	6497	SO:0001583	missense	120796			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.455G>T	11.37:g.6048480C>A	ENSP00000321246:p.Ser152Ile		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	1.519	-0.547465	0.04024	.	.	ENSG00000180934	ENST00000316650	T	0.31769	1.48	4.16	-0.65	0.11457	GPCR, rhodopsin-like superfamily (1);	0.336550	0.21876	N	0.067812	T	0.19046	0.0457	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.13980	-1.0489	10	0.66056	D	0.02	.	4.7157	0.12894	0.1332:0.4339:0.3482:0.0847	.	152	Q8NGH5	O56A1_HUMAN	I	152	ENSP00000321246:S152I	ENSP00000321246:S152I	S	-	2	0	OR56A1	6005056	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.384000	0.07389	-0.204000	0.10235	-0.176000	0.13171	AGT		0.493	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		8	131	8	131
ARHGAP32	9743	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	128840324	128840324	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:128840324C>T	ENST00000310343.9	-	22	4741	c.4742G>A	c.(4741-4743)cGg>cAg	p.R1581Q	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1232Q|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1232Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1581	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.R1581L(1)|p.R1232L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGCACTCTCCGGATGGTAGG	0.552																																																2	Substitution - Missense(2)	lung(2)											82.0	75.0	77.0					11																	128840324		2201	4297	6498	SO:0001583	missense	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4742G>A	11.37:g.128840324C>T	ENSP00000310561:p.Arg1581Gln		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456714	0.84317	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.33654	1.49;1.4;1.4	5.54	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	M	0.70275	2.135	0.49915	D	0.999839	P	0.48230	0.907	B	0.35550	0.205	T	0.45687	-0.9244	10	0.87932	D	0	.	14.333	0.66569	0.0:0.9287:0.0:0.0713	.	1581	A7KAX9	RHG32_HUMAN	Q	1581;1232;1232	ENSP00000310561:R1581Q;ENSP00000376425:R1232Q;ENSP00000432862:R1232Q	ENSP00000310561:R1581Q	R	-	2	0	ARHGAP32	128345534	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.428000	0.80296	1.351000	0.45789	0.655000	0.94253	CGG		0.552	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		31	75	31	75
IGF1R	3480	hgsc.bcm.edu;broad.mit.edu	37	15	99456347	99456347	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr15:99456347A>G	ENST00000268035.6	+	8	2275	c.1664A>G	c.(1663-1665)gAc>gGc	p.D555G	IGF1R_ENST00000558762.1_Missense_Mutation_p.D555G	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	555	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GTGGACGTGGACCTCCCGCCC	0.537																																																0													84.0	69.0	74.0					15																	99456347		2197	4297	6494	SO:0001583	missense	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1664A>G	15.37:g.99456347A>G	ENSP00000268035:p.Asp555Gly		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.807234	0.90623	.	.	ENSG00000140443	ENST00000268035	T	0.70045	-0.45	4.77	4.77	0.60923	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000009	T	0.77123	0.4084	M	0.64170	1.965	0.80722	D	1	D;B	0.71674	0.998;0.037	P;B	0.62885	0.908;0.066	T	0.78448	-0.2200	10	0.49607	T	0.09	.	14.7497	0.69516	1.0:0.0:0.0:0.0	.	555;555	C9J5X1;P08069	.;IGF1R_HUMAN	G	555	ENSP00000268035:D555G	ENSP00000268035:D555G	D	+	2	0	IGF1R	97273870	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	9.068000	0.93961	2.135000	0.66039	0.460000	0.39030	GAC		0.537	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		4	50	4	50
SLC9A5	6553	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	67304913	67304913	+	Silent	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr16:67304913C>T	ENST00000299798.11	+	16	2556	c.2491C>T	c.(2491-2493)Cta>Tta	p.L831L		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	831					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CCCTCTCCACCTACCTTCTGA	0.657																																																0													57.0	62.0	61.0					16																	67304913		2056	4192	6248	SO:0001819	synonymous_variant	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2491C>T	16.37:g.67304913C>T			A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	CCDS42178.1																																																																																				0.657	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			17	54	17	54
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	3	19	3
NCOR1	9611	hgsc.bcm.edu;broad.mit.edu	37	17	15943763	15943763	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:15943763G>C	ENST00000268712.3	-	43	6982	c.6725C>G	c.(6724-6726)aCt>aGt	p.T2242S	AC002553.1_ENST00000442828.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.T826S|NCOR1_ENST00000395851.1_Missense_Mutation_p.T2139S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2242	ID2. {ECO:0000250}.|Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACCTGACGTAGTAACTGCTGG	0.358																																																0													90.0	81.0	84.0					17																	15943763		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6725C>G	17.37:g.15943763G>C	ENSP00000268712:p.Thr2242Ser		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755750	0.49362	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.60424	0.19;0.8;0.3	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75867	0.3908	M	0.66297	2.02	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.993;0.996;0.999;0.999	D;D;D;D;D	0.85130	0.986;0.956;0.99;0.997;0.994	T	0.77453	-0.2582	10	0.87932	D	0	-11.8236	18.6919	0.91586	0.0:0.0:1.0:0.0	.	2146;2242;2139;762;256	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	S	2242;2139;2146;826	ENSP00000268712:T2242S;ENSP00000379192:T2139S;ENSP00000379198:T826S	ENSP00000268712:T2242S	T	-	2	0	NCOR1	15884488	1.000000	0.71417	0.977000	0.42913	0.931000	0.56810	8.756000	0.91651	2.655000	0.90218	0.655000	0.94253	ACT		0.358	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		4	61	4	61
BCL2L15	440603	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	114424577	114424577	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:114424577T>C	ENST00000393316.3	-	3	463	c.292A>G	c.(292-294)Acc>Gcc	p.T98A	BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000471267.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000488450.1_5'UTR	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	98					apoptotic process (GO:0006915)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACACCAGGTCTTGCTGAGA	0.468																																																0													75.0	69.0	71.0					1																	114424577		2203	4300	6503	SO:0001583	missense	440603				CCDS30809.1	1p13.2	2014-03-07			ENSG00000188761	ENSG00000188761			33624	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 178"""	C1orf178		12700646, 15961081, 16690252, 17412810	Standard	NM_001010922		Approved	Bfk, FLJ22588	uc001edw.3	Q5TBC7	OTTHUMG00000011940	ENST00000393316.3:c.292A>G	1.37:g.114424577T>C	ENSP00000376992:p.Thr98Ala		A0PJY6|A8K074|I6LA82	Missense_Mutation	SNP	ENST00000393316.3	37	CCDS30809.1	.	.	.	.	.	.	.	.	.	.	T	0.795	-0.757489	0.03019	.	.	ENSG00000188761	ENST00000393316	T	0.04406	3.63	5.85	-7.12	0.01537	.	1.004100	0.08016	N	0.991176	T	0.00754	0.0025	N	0.13235	0.315	0.09310	N	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.49532	-0.8930	10	0.05620	T	0.96	.	16.7842	0.85570	0.0:0.2287:0.0:0.7713	.	98	Q5TBC7	B2L15_HUMAN	A	98	ENSP00000376992:T98A	ENSP00000376992:T98A	T	-	1	0	BCL2L15	114226100	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.903000	0.04084	-1.305000	0.02327	-0.256000	0.11100	ACC		0.468	BCL2L15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033026.2	NM_001010922		7	55	7	55
RNPEP	6051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	201972432	201972432	+	Silent	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:201972432G>T	ENST00000295640.4	+	9	1537	c.1494G>T	c.(1492-1494)ggG>ggT	p.G498G	RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Silent_p.G459G|RP11-465N4.4_ENST00000415582.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	498					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCTCCCCTGGGGACTCACTCA	0.562																																					GBM(19;39 479 7473 13131 19462)											0													62.0	58.0	60.0					1																	201972432		2203	4300	6503	SO:0001819	synonymous_variant	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1494G>T	1.37:g.201972432G>T			Q9BVM9|Q9H1D4|Q9NPT7	Silent	SNP	ENST00000295640.4	37	CCDS1418.1																																																																																				0.562	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		27	79	27	79
USH2A	7399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	215987173	215987173	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:215987173A>G	ENST00000307340.3	-	49	10030	c.9644T>C	c.(9643-9645)gTt>gCt	p.V3215A	USH2A_ENST00000366943.2_Missense_Mutation_p.V3215A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3215					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAATTCAGAACAAACGGGAT	0.433										HNSCC(13;0.011)																																						0													121.0	110.0	114.0					1																	215987173		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9644T>C	1.37:g.215987173A>G	ENSP00000305941:p.Val3215Ala		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	8.463	0.855743	0.17106	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12255	2.71;2.7	5.8	2.16	0.27623	Fibronectin, type III (2);	2.308810	0.02524	U	0.092895	T	0.07279	0.0184	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32161	-0.9917	10	0.08179	T	0.78	.	6.5116	0.22224	0.5916:0.2229:0.1855:0.0	.	3215	O75445	USH2A_HUMAN	A	3215	ENSP00000305941:V3215A;ENSP00000355910:V3215A	ENSP00000305941:V3215A	V	-	2	0	USH2A	214053796	0.000000	0.05858	0.000000	0.03702	0.289000	0.27227	0.755000	0.26405	0.433000	0.26313	0.482000	0.46254	GTT		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		8	65	8	65
GNPAT	8443	hgsc.bcm.edu;broad.mit.edu	37	1	231403559	231403559	+	Missense_Mutation	SNP	C	C	T	rs569550123		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:231403559C>T	ENST00000366647.4	+	9	1358	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	GNPAT_ENST00000366646.3_Missense_Mutation_p.R336W	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	397					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GCTTCAGAACCGGCCATCCAT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		18893	0.0		0.0	False		,,,				2504	0.001															0													106.0	100.0	102.0					1																	231403559		2203	4300	6503	SO:0001583	missense	8443			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1189C>T	1.37:g.231403559C>T	ENSP00000355607:p.Arg397Trp		B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969816	0.74246	.	.	ENSG00000116906	ENST00000366647;ENST00000366646;ENST00000416000	T;T;T	0.49720	0.77;0.77;0.77	5.09	2.83	0.33086	.	1.237240	0.05353	N	0.532231	T	0.56247	0.1972	M	0.61703	1.905	0.26765	N	0.969922	D;D	0.69078	0.995;0.997	P;P	0.52343	0.517;0.696	T	0.41431	-0.9509	10	0.87932	D	0	.	6.283	0.21017	0.0:0.6013:0.0:0.3987	.	336;397	B4DNM9;O15228	.;GNPAT_HUMAN	W	397;336;387	ENSP00000355607:R397W;ENSP00000355606:R336W;ENSP00000411640:R387W	ENSP00000355606:R336W	R	+	1	2	GNPAT	229470182	0.979000	0.34478	0.948000	0.38648	0.986000	0.74619	3.754000	0.55189	1.129000	0.42072	0.591000	0.81541	CGG		0.458	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			4	60	4	60
TTLL9	164395	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	30486368	30486368	+	Splice_Site	SNP	A	A	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr20:30486368A>C	ENST00000375938.4	+	4	459	c.206A>C	c.(205-207)gAc>gCc	p.D69A	RNU1-94P_ENST00000362627.1_RNA|TTLL9_ENST00000310998.4_Splice_Site_p.D19A|TTLL9_ENST00000375922.4_Splice_Site_p.D19A|TTLL9_ENST00000535842.1_Splice_Site_p.D69A|TTLL9_ENST00000375921.2_Splice_Site_p.D19A|TTLL9_ENST00000375934.4_Splice_Site_p.D51A			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	69	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAAGTGAAGGAGTAAGACCCT	0.562																																																0													80.0	83.0	82.0					20																	30486368		2043	4190	6233	SO:0001630	splice_region_variant	164395			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.206+1A>C	20.37:g.30486368A>C			A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Splice_Site	SNP	ENST00000375938.4	37	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.962361	0.74016	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375935;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.11277	3.72;3.72;3.69;3.09;2.79;3.82	5.48	5.48	0.80851	.	0.233292	0.23319	U	0.049468	T	0.16257	0.0391	L	0.48218	1.51	0.46798	D	0.999204	P	0.48911	0.917	P	0.49301	0.606	T	0.00961	-1.1499	10	0.41790	T	0.15	.	11.9571	0.52986	1.0:0.0:0.0:0.0	.	69	Q3SXZ7	TTLL9_HUMAN	A	69;69;19;19;51;51;19	ENSP00000365105:D69A;ENSP00000442515:D69A;ENSP00000308980:D19A;ENSP00000365086:D19A;ENSP00000365100:D51A;ENSP00000365088:D19A	ENSP00000308980:D19A	D	+	2	0	TTLL9	29950029	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.145000	0.64839	2.087000	0.62958	0.460000	0.39030	GAC		0.562	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409	Missense_Mutation	25	44	25	44
SEZ6L	23544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	26707829	26707829	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr22:26707829A>G	ENST00000248933.6	+	8	1872	c.1777A>G	c.(1777-1779)Acc>Gcc	p.T593A	SEZ6L_ENST00000404234.3_Missense_Mutation_p.T593A|SEZ6L_ENST00000343706.4_Missense_Mutation_p.T593A|SEZ6L_ENST00000402979.1_Missense_Mutation_p.T366A|SEZ6L_ENST00000360929.3_Missense_Mutation_p.T593A|SEZ6L_ENST00000529632.2_Missense_Mutation_p.T593A|SEZ6L_ENST00000403121.1_Missense_Mutation_p.T366A			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	593	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGTGGAGTTCACCTGCGACCC	0.562																																																0													173.0	167.0	169.0					22																	26707829		2203	4300	6503	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1777A>G	22.37:g.26707829A>G	ENSP00000248933:p.Thr593Ala		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338908	0.60963	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	4.83	4.83	0.62350	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000019	T	0.70911	0.3278	M	0.62154	1.92	0.80722	D	1	P;P;P;P;D;P;P	0.57257	0.89;0.898;0.693;0.953;0.979;0.898;0.898	P;P;B;P;P;P;P	0.56163	0.716;0.669;0.433;0.672;0.793;0.669;0.669	T	0.73783	-0.3874	10	0.54805	T	0.06	.	13.7343	0.62809	1.0:0.0:0.0:0.0	.	593;593;366;593;593;593;593	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	A	593;593;593;593;593;366;366	ENSP00000384772:T593A;ENSP00000437037:T593A;ENSP00000354185:T593A;ENSP00000248933:T593A;ENSP00000342661:T593A;ENSP00000384838:T366A;ENSP00000384733:T366A	ENSP00000248933:T593A	T	+	1	0	SEZ6L	25037829	0.988000	0.35896	0.998000	0.56505	0.998000	0.95712	2.925000	0.48884	2.021000	0.59480	0.460000	0.39030	ACC		0.562	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			93	213	93	213
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			50	77	50	77
SPP2	6694	hgsc.bcm.edu;broad.mit.edu	37	2	234978646	234978646	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:234978646G>T	ENST00000168148.3	+	7	713	c.625G>T	c.(625-627)Gac>Tac	p.D209Y	SPP2_ENST00000373368.1_Missense_Mutation_p.D209Y	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	209					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		AATAAATACTGACTTTGAGTA	0.443																																																0													103.0	97.0	99.0					2																	234978646		2203	4300	6503	SO:0001583	missense	6694				CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.625G>T	2.37:g.234978646G>T	ENSP00000168148:p.Asp209Tyr		A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	ENST00000168148.3	37	CCDS2511.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058916	0.36277	.	.	ENSG00000072080	ENST00000373368;ENST00000168148;ENST00000425558	T;T	0.49432	0.78;0.78	3.79	3.79	0.43588	.	0.478780	0.18713	N	0.133254	T	0.43612	0.1255	L	0.36672	1.1	0.25982	N	0.982362	P	0.43885	0.82	P	0.45998	0.5	T	0.38134	-0.9675	10	0.66056	D	0.02	-16.5353	11.4597	0.50202	0.0:0.0:1.0:0.0	.	209	Q13103	SPP24_HUMAN	Y	209;209;129	ENSP00000362466:D209Y;ENSP00000168148:D209Y	ENSP00000168148:D209Y	D	+	1	0	SPP2	234643385	0.669000	0.27502	0.894000	0.35097	0.052000	0.14988	2.221000	0.42917	2.419000	0.82065	0.585000	0.79938	GAC		0.443	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		4	67	4	67
KIF1A	547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	241683359	241683359	+	Splice_Site	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:241683359C>T	ENST00000320389.7	-	31	3439	c.3281G>A	c.(3280-3282)aGc>aAc	p.S1094N	KIF1A_ENST00000498729.2_Splice_Site_p.S1195N	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1094					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGCGCTAACCTGAGCACGTC	0.592																																																0													84.0	93.0	90.0					2																	241683359		1957	4132	6089	SO:0001630	splice_region_variant	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3281+1G>A	2.37:g.241683359C>T			B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Splice_Site	SNP	ENST00000320389.7	37	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.80|13.80	2.344563|2.344563	0.41498|0.41498	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000431776|ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	.|T;T;T	.|0.75367	.|-0.93;-0.93;-0.93	4.91|4.91	4.03|4.03	0.46877|0.46877	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.76126|0.76126	0.3944|0.3944	L|L	0.32530|0.32530	0.975|0.975	0.50039|0.50039	D|D	0.999849|0.999849	.|D;D;P	.|0.56287	.|0.968;0.975;0.937	.|P;P;P	.|0.61477	.|0.889;0.778;0.585	T|T	0.73864|0.73864	-0.3848|-0.3848	5|9	.|.	.|.	.|.	.|.	13.0725|13.0725	0.59070|0.59070	0.0:0.9218:0.0:0.0782|0.0:0.9218:0.0:0.0782	.|.	.|1195;1195;1094	.|F5H045;Q12756-2;Q12756	.|.;.;KIF1A_HUMAN	T|N	18|1094;1195;1195;1195	.|ENSP00000322791:S1094N;ENSP00000438388:S1195N;ENSP00000384231:S1195N	.|.	A|S	-|-	1|2	0|0	KIF1A|KIF1A	241332032|241332032	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.017000|0.017000	0.09413|0.09413	7.618000|7.618000	0.83043|0.83043	1.067000|1.067000	0.40740|0.40740	-0.218000|-0.218000	0.12543|0.12543	GCC|AGC		0.592	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	Missense_Mutation	14	112	14	112
TRIM15	89870	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	30138295	30138295	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:30138295T>C	ENST00000376694.4	+	5	1218	c.749T>C	c.(748-750)tTt>tCt	p.F250S	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	250					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						ATGAAGACTTTTGTGAGTCCT	0.458																																																0													106.0	102.0	103.0					6																	30138295		2203	4300	6503	SO:0001583	missense	89870			AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.749T>C	6.37:g.30138295T>C	ENSP00000365884:p.Phe250Ser		A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.527438	0.27299	.	.	ENSG00000204610	ENST00000376695;ENST00000376694	T	0.55413	0.52	5.52	3.03	0.35002	.	0.111886	0.40302	N	0.001121	T	0.21881	0.0527	L	0.55213	1.73	0.80722	D	1	B	0.22800	0.075	B	0.17098	0.017	T	0.07654	-1.0761	10	0.17832	T	0.49	.	4.9019	0.13779	0.1618:0.0891:0.0:0.7491	.	250	Q9C019	TRI15_HUMAN	S	181;250	ENSP00000365884:F250S	ENSP00000365884:F250S	F	+	2	0	TRIM15	30246274	0.001000	0.12720	0.990000	0.47175	0.673000	0.39480	0.225000	0.17757	0.931000	0.37242	0.472000	0.43445	TTT		0.458	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		9	82	9	82
CD109	135228	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	74472143	74472143	+	Silent	SNP	G	G	A	rs542993766		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:74472143G>A	ENST00000287097.5	+	8	907	c.795G>A	c.(793-795)acG>acA	p.T265T	CD109_ENST00000422508.2_Silent_p.T188T|CD109_ENST00000437994.2_Silent_p.T265T			Q6YHK3	CD109_HUMAN	CD109 molecule	265					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGACGTAACGCTTACATTTT	0.294													G|||	1	0.000199681	0.0	0.0	5008	,	,		18094	0.0		0.0	False		,,,				2504	0.001															0													62.0	65.0	64.0					6																	74472143		2203	4298	6501	SO:0001819	synonymous_variant	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.795G>A	6.37:g.74472143G>A			A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	CCDS4982.1																																																																																				0.294	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		8	56	8	56
WBSCR17	64409	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	70886066	70886066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:70886066G>A	ENST00000333538.5	+	5	1571	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	313					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A313S(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTGGTGGGACGCCGGAGACCC	0.597																																																1	Substitution - Missense(1)	endometrium(1)											56.0	58.0	57.0					7																	70886066		2203	4300	6503	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.937G>A	7.37:g.70886066G>A	ENSP00000329654:p.Ala313Thr		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548491	0.65311	.	.	ENSG00000185274	ENST00000333538	T	0.59364	0.27	5.32	5.32	0.75619	.	0.053435	0.64402	D	0.000001	T	0.45955	0.1368	N	0.17278	0.47	0.80722	D	1	P	0.42973	0.796	B	0.41666	0.363	T	0.43393	-0.9394	10	0.33141	T	0.24	.	18.0015	0.89199	0.0:0.0:1.0:0.0	.	313	Q6IS24	GLTL3_HUMAN	T	313	ENSP00000329654:A313T	ENSP00000329654:A313T	A	+	1	0	WBSCR17	70524002	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.490000	0.84030	0.557000	0.71058	GCC		0.597	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		11	40	11	40
SEMA4D	10507	hgsc.bcm.edu;broad.mit.edu	37	9	91994102	91994102	+	Silent	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr9:91994102C>T	ENST00000450295.1	-	16	2882	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000356444.2_Silent_p.A702A|SEMA4D_ENST00000422704.2_Silent_p.A702A|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000438547.2_Silent_p.A702A			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	702					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGCCGGTGGGCGCAGGCTTGG	0.617																																																0													74.0	73.0	74.0					9																	91994102		2203	4300	6503	SO:0001819	synonymous_variant	10507			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.2106G>A	9.37:g.91994102C>T			B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	CCDS6685.1																																																																																				0.617	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		5	67	5	67
ATRX	546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	76940087	76940087	+	Splice_Site	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:76940087T>C	ENST00000373344.5	-	9	877		c.e9-2		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GCACACCACCTGAAATGTTTT	0.333			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											69.0	74.0	73.0					X																	76940087		2173	4145	6318	SO:0001630	splice_region_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.663-2A>G	X.37:g.76940087T>C			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929671	0.52759	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.493	0.67665	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76826743	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.698000	0.84413	1.803000	0.52742	0.417000	0.27973	.		0.333	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	48	117	48	117
CT55	54967	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	134303695	134303695	+	Silent	SNP	G	G	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:134303695G>C	ENST00000276241.6	-	2	328	c.102C>G	c.(100-102)acC>acG	p.T34T	CXorf48_ENST00000344129.2_Silent_p.T34T	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		34										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TTGTCAACTGGGTGTCACCTA	0.433																																																0													73.0	55.0	61.0					X																	134303695		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000276241.6:c.102C>G	X.37:g.134303695G>C			Q9NWY8	Silent	SNP	ENST00000276241.6	37	CCDS35400.1																																																																																				0.433	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			21	39	21	39
MCF2	4168	hgsc.bcm.edu;broad.mit.edu	37	X	138689854	138689854	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:138689854T>G	ENST00000370576.4	-	12	1695	c.1486A>C	c.(1486-1488)Aag>Cag	p.K496Q	MCF2_ENST00000370573.4_Missense_Mutation_p.K496Q|MCF2_ENST00000370578.4_Missense_Mutation_p.K641Q|MCF2_ENST00000338585.6_Missense_Mutation_p.K512Q|MCF2_ENST00000520602.1_Missense_Mutation_p.K556Q|MCF2_ENST00000414978.1_Missense_Mutation_p.K556Q|MCF2_ENST00000519895.1_Missense_Mutation_p.K572Q|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000536274.1_Missense_Mutation_p.K457Q	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	496	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GGATACTTCTTTAAAACATCC	0.373																																																0													52.0	47.0	49.0					X																	138689854		2203	4300	6503	SO:0001583	missense	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1486A>C	X.37:g.138689854T>G	ENSP00000359608:p.Lys496Gln		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	T	10.33	1.320928	0.23994	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.75	3.48	0.39840	Dbl homology (DH) domain (3);	0.294263	0.39146	N	0.001446	T	0.45013	0.1321	M	0.80183	2.485	0.52099	D	0.999942	B;B;B;B;B;B;B;B	0.23650	0.001;0.015;0.01;0.001;0.046;0.002;0.089;0.001	B;B;B;B;B;B;B;B	0.28139	0.015;0.016;0.009;0.009;0.033;0.024;0.086;0.009	T	0.30563	-0.9974	10	0.33141	T	0.24	.	10.117	0.42596	0.0:0.0:0.2134:0.7866	.	572;641;457;496;496;641;512;496	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	Q	556;496;457;641;556;99;572;496;512	ENSP00000427745:K556Q;ENSP00000359608:K496Q;ENSP00000438155:K457Q;ENSP00000359610:K641Q;ENSP00000397055:K556Q;ENSP00000405848:K99Q;ENSP00000430276:K572Q;ENSP00000359605:K496Q;ENSP00000342204:K512Q	ENSP00000342204:K512Q	K	-	1	0	MCF2	138517520	1.000000	0.71417	0.956000	0.39512	0.235000	0.25334	5.101000	0.64566	0.496000	0.27904	0.437000	0.28790	AAG		0.373	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		5	64	5	64
GPR180	160897	broad.mit.edu;ucsc.edu	37	13	95275437	95275437	+	Silent	SNP	G	G	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr13:95275437G>C	ENST00000376958.4	+	7	994	c.969G>C	c.(967-969)ggG>ggC	p.G323G		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	323					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ACTTAGCAGGGATCCTCCTAA	0.388																																																0													196.0	177.0	184.0					13																	95275437		2203	4300	6503	SO:0001819	synonymous_variant	160897			AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.969G>C	13.37:g.95275437G>C			A8K1D5	Silent	SNP	ENST00000376958.4	37	CCDS9472.1																																																																																				0.388	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989		21	186	21	186
KRT16P2	400578	broad.mit.edu;ucsc.edu	37	17	16734855	16734855	+	RNA	SNP	C	C	T	rs688852	byFrequency	TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:16734855C>T	ENST00000579062.1	-	0	460									keratin 16 pseudogene 2									p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632																																																1	Substitution - Missense(1)	endometrium(1)																																										400578					17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16734855C>T				RNA	SNP	ENST00000579062.1	37																																																																																					0.632	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2	NR_029392		7	52	7	52
MYO15A	51168	broad.mit.edu;ucsc.edu	37	17	18064731	18064731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:18064731G>A	ENST00000205890.5	+	57	9825	c.9487G>A	c.(9487-9489)Gtg>Atg	p.V3163M	MYO15A_ENST00000451725.2_Missense_Mutation_p.V55M|MYO15A_ENST00000418233.3_Missense_Mutation_p.V427M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3163	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTCCAAGACGTGAGCCGGAC	0.632																																																0													74.0	79.0	78.0					17																	18064731		2120	4239	6359	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9487G>A	17.37:g.18064731G>A	ENSP00000205890:p.Val3163Met		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.465080	0.26335	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000556535;ENST00000557190;ENST00000451725	D;D;D	0.91996	-2.95;-2.95;-2.95	5.16	0.971	0.19698	MyTH4 domain (3);	.	.	.	.	D	0.88254	0.6387	L	0.38175	1.15	0.27008	N	0.964757	P;P;B;B;P;P	0.50528	0.66;0.853;0.432;0.29;0.936;0.936	B;B;B;B;P;P	0.46585	0.274;0.179;0.179;0.115;0.521;0.521	T	0.79448	-0.1799	9	0.46703	T	0.11	.	8.8633	0.35272	0.3454:0.0:0.6546:0.0	.	55;152;427;3163;85;170	B4DQJ3;B4DLV9;B4DFC7;Q9UKN7;Q7Z382;Q8TCK0	.;.;.;MYO15_HUMAN;.;.	M	3163;152;117;55;55	ENSP00000205890:V3163M;ENSP00000451782:V117M;ENSP00000409098:V55M	ENSP00000205890:V3163M	V	+	1	0	MYO15A	18005456	0.992000	0.36948	0.046000	0.18839	0.466000	0.32739	3.284000	0.51708	-0.024000	0.13941	-0.369000	0.07265	GTG		0.632	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		13	159	13	159
PAX4	5078	broad.mit.edu;ucsc.edu	37	7	127251252	127251252	+	Missense_Mutation	SNP	G	G	A	rs374507653		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:127251252G>A	ENST00000341640.2	-	9	1103	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S	PAX4_ENST00000378740.2_Intron|PAX4_ENST00000463946.1_Missense_Mutation_p.P298S|PAX4_ENST00000338516.3_3'UTR	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	311	Transcription repression.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCTGTGGGGGCAAGTGGCCT	0.572																																					Ovarian(113;737 1605 7858 27720 34092)											0								G	SER/PRO	0,4402		0,0,2201	43.0	42.0	42.0		898	-2.6	0.0	7		42	1,8599		0,1,4299	no	missense	PAX4	NM_006193.2	74	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	300/344	127251252	1,13001	2201	4300	6501	SO:0001583	missense	5078				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.898C>T	7.37:g.127251252G>A	ENSP00000339906:p.Pro300Ser		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428925	0.43122	0.0	1.16E-4	ENSG00000106331	ENST00000341640;ENST00000463946	D;D	0.93859	-3.3;-3.17	5.11	-2.58	0.06228	.	3.364860	0.00839	N	0.001732	D	0.85375	0.5682	N	0.19112	0.55	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.14023	0.01;0.002	T	0.75772	-0.3200	10	0.11794	T	0.64	.	5.7756	0.18277	0.4938:0.0:0.3752:0.1311	.	300;298	O43316-4;G3V4Q1	.;.	S	300;298	ENSP00000339906:P300S;ENSP00000451923:P298S	ENSP00000339906:P300S	P	-	1	0	PAX4	127038488	0.000000	0.05858	0.000000	0.03702	0.253000	0.25986	-0.297000	0.08276	-0.502000	0.06596	-0.140000	0.14226	CCC		0.572	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			3	4	3	4
RANBP9	10048	broad.mit.edu;ucsc.edu	37	6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761																																																0													4.0	5.0	5.0					6																	13711709		764	1870	2634	SO:0001583	missense	10048			AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.29C>A	6.37:g.13711709G>T	ENSP00000011619:p.Pro10Gln		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	g	8.018	0.759040	0.15846	.	.	ENSG00000010017	ENST00000011619;ENST00000283152	T	0.78003	-1.14	1.59	-3.18	0.05186	.	.	.	.	.	T	0.30198	0.0757	N	0.08118	0	0.21416	N	0.999694	B	0.18968	0.032	B	0.10450	0.005	T	0.18555	-1.0333	9	0.30854	T	0.27	.	5.1241	0.14875	0.0:0.0:0.4149:0.5851	.	10	Q96S59	RANB9_HUMAN	Q	10	ENSP00000011619:P10Q	ENSP00000011619:P10Q	P	-	2	0	RANBP9	13819688	0.000000	0.05858	0.967000	0.41034	0.688000	0.40055	-1.054000	0.03496	-0.053000	0.13289	0.154000	0.16183	CCG		0.761	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			2	8	2	8
ZNF41	7592	broad.mit.edu;ucsc.edu	37	X	47315320	47315320	+	Splice_Site	SNP	C	C	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:47315320C>A	ENST00000377065.4	-	4	934	c.295G>T	c.(295-297)Ggt>Tgt	p.G99C	ZNF41_ENST00000397050.2_Splice_Site_p.G109C|ZNF41_ENST00000313116.7_Splice_Site_p.G99C|ZNF41_ENST00000465311.1_5'UTR	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	141	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GCTCACTCACCTGAACAGCTC	0.522																																																0													100.0	81.0	87.0					X																	47315320		2203	4300	6503	SO:0001630	splice_region_variant	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.295+1G>T	X.37:g.47315320C>A			A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Splice_Site	SNP	ENST00000377065.4	37	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484161	0.44147	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050;ENST00000432977	T;T;T;T	0.08193	3.12;3.12;3.13;5.78	2.3	2.3	0.28687	.	1.094030	0.07280	N	0.870554	T	0.17789	0.0427	L	0.58354	1.805	0.31548	N	0.659095	P;P;D;P;P	0.55800	0.913;0.913;0.973;0.913;0.859	B;B;P;B;B	0.53360	0.123;0.123;0.724;0.123;0.091	T	0.16571	-1.0398	9	.	.	.	.	9.9898	0.41863	0.0:1.0:0.0:0.0	.	99;101;109;133;141	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	C	99;99;109;109	ENSP00000315173:G99C;ENSP00000366265:G99C;ENSP00000380243:G109C;ENSP00000390385:G109C	.	G	-	1	0	ZNF41	47200264	0.969000	0.33509	0.992000	0.48379	0.605000	0.37080	0.586000	0.23894	1.452000	0.47756	0.468000	0.43344	GGT		0.522	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380	Missense_Mutation	8	85	8	85
ZNF567	163081	broad.mit.edu;ucsc.edu	37	19	37210750	37210750	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:37210750G>A	ENST00000536254.2	+	6	1346	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	ZNF567_ENST00000392163.2_Missense_Mutation_p.R344H|ZNF567_ENST00000360729.4_Missense_Mutation_p.R344H|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000585696.1_Missense_Mutation_p.R344H|ZNF567_ENST00000588311.1_Missense_Mutation_p.R344H			Q8N184	ZN567_HUMAN	zinc finger protein 567	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGTCCTTCCGCCAGAAGACA	0.443																																																0													71.0	69.0	70.0					19																	37210750		2203	4300	6503	SO:0001583	missense	163081			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1124G>A	19.37:g.37210750G>A	ENSP00000441838:p.Arg375His		B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37		.	.	.	.	.	.	.	.	.	.	G	10.13	1.267031	0.23136	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.07567	3.18;3.18;3.18	4.66	0.996	0.19844	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000716	T	0.12433	0.0302	L	0.39692	1.235	0.09310	N	1	D;D	0.65815	0.995;0.986	P;P	0.57679	0.825;0.648	T	0.04678	-1.0934	10	0.62326	D	0.03	.	7.0702	0.25173	0.0:0.269:0.4251:0.3058	.	375;344	Q8N184;F8WEL6	ZN567_HUMAN;.	H	375;319;344;374;344	ENSP00000441838:R375H;ENSP00000353957:R344H;ENSP00000376003:R344H	ENSP00000353957:R344H	R	+	2	0	ZNF567	41902590	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	-0.417000	0.07088	0.654000	0.30846	0.561000	0.74099	CGC		0.443	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		6	84	6	84
