#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TranscriptID	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_dbSNPPopFreq	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
ADAMTSL1	92949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	18777646	18777646	+	Missense_Mutation	SNP	G	G	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr9:18777646G>A	ENST00000380548.4	+	19	3758	c.3419G>A	c.(3418-3420)gGc>gAc	p.G1140D		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1140						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CACGTGTCTGGCTTCAGCAGC	0.657																																					p.G1140D		.											.	ADAMTSL1	230	0			c.G3419A						.						32.0	36.0	35.0					9																	18777646		2064	4198	6262	SO:0001583	missense	92949	exon19			TGTCTGGCTTCAG	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3419G>A	9.37:g.18777646G>A	ENSP00000369921:p.Gly1140Asp	39.0	0.0		28.0	14.0	NM_001040272	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557837	0.45590	.	.	ENSG00000178031	ENST00000380548	T	0.63255	-0.03	6.03	6.03	0.97812	.	0.063246	0.08080	U	1.000000	T	0.52853	0.1760	N	0.19112	0.55	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.21724	-1.0237	10	0.49607	T	0.09	.	14.6915	0.69091	0.0687:0.0:0.9313:0.0	.	1140	Q8N6G6	ATL1_HUMAN	D	1140	ENSP00000369921:G1140D	ENSP00000369921:G1140D	G	+	2	0	ADAMTSL1	18767646	1.000000	0.71417	0.973000	0.42090	0.783000	0.44284	4.274000	0.58921	2.868000	0.98415	0.557000	0.71058	GGC	.		0.657	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
AMER1	139285	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	63412194	63412194	+	Silent	SNP	A	A	G			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chrX:63412194A>G	ENST00000330258.3	-	2	1245	c.973T>C	c.(973-975)Ttg>Ctg	p.L325L	AMER1_ENST00000374869.3_Silent_p.L325L|AMER1_ENST00000403336.1_Silent_p.L325L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	325					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CAACCTGTCAATGAATCAAAG	0.532																																					p.L325L		.											.	.	.	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	c.T973C						.						148.0	127.0	134.0					X																	63412194		2203	4300	6503	SO:0001819	synonymous_variant	139285	exon2			CTGTCAATGAATC	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.973T>C	X.37:g.63412194A>G		97.0	0.0		87.0	9.0	NM_152424	A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	CCDS14377.2																																																																																			.		0.532	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
AMH	268	hgsc.bcm.edu;mdanderson.org	37	19	2249687	2249687	+	Missense_Mutation	SNP	G	G	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr19:2249687G>T	ENST00000221496.4	+	1	378	c.356G>T	c.(355-357)gGg>gTg	p.G119V	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	119					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			lung(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCGGCTGGGGGCCTGGCTG	0.716									Persistant Mullerian Duct Syndrome (type I and II)																												p.G119V		.											.	AMH	130	0			c.G356T						.						4.0	5.0	5.0					19																	2249687		1704	3520	5224	SO:0001583	missense	268	exon1	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	GGCTGGGGGCCTG	K03474	CCDS12085.1	19p13.3	2014-01-30				ENSG00000104899		"""Endogenous ligands"""	464	protein-coding gene	gene with protein product		600957				3754790, 18784351	Standard	NM_000479		Approved	MIS	uc002lvh.2	P03971		ENST00000221496.4:c.356G>T	19.37:g.2249687G>T	ENSP00000221496:p.Gly119Val	32.0	0.0		41.0	16.0	NM_000479	O75246|Q6GTN3	Missense_Mutation	SNP	ENST00000221496.4	37	CCDS12085.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325721	0.41197	.	.	ENSG00000104899	ENST00000221496	D	0.81579	-1.51	3.91	1.72	0.24424	Anti-Mullerian hormone, N-terminal (1);	1.022220	0.07832	U	0.961496	T	0.75064	0.3799	L	0.46157	1.445	0.09310	N	1	P	0.36412	0.552	B	0.39339	0.297	T	0.60702	-0.7211	10	0.40728	T	0.16	-2.3679	6.2185	0.20667	0.1206:0.0:0.6967:0.1827	.	119	P03971	MIS_HUMAN	V	119	ENSP00000221496:G119V	ENSP00000221496:G119V	G	+	2	0	AMH	2200687	0.000000	0.05858	0.001000	0.08648	0.604000	0.37047	0.395000	0.20850	0.105000	0.17753	0.456000	0.33151	GGG	.		0.716	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451276.3	NM_000479	
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	21233705	21233705	+	Missense_Mutation	SNP	C	C	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr2:21233705C>T	ENST00000233242.1	-	26	6162	c.6035G>A	c.(6034-6036)cGa>cAa	p.R2012Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2012					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCAGAGTTCGTCCAGTAAG	0.433																																					p.R2012Q		.											.	APOB	175	0			c.G6035A						.						173.0	159.0	164.0					2																	21233705		2203	4300	6503	SO:0001583	missense	338	exon26			AGAGTTCGTCCAG	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6035G>A	2.37:g.21233705C>T	ENSP00000233242:p.Arg2012Gln	217.0	0.0		194.0	57.0	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.863	-0.734763	0.03111	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00705	5.81	5.46	2.69	0.31865	.	0.834050	0.10100	N	0.716077	T	0.00845	0.0028	L	0.38838	1.175	0.09310	N	0.999998	B	0.18166	0.026	B	0.10450	0.005	T	0.48151	-0.9060	10	0.18710	T	0.47	.	8.486	0.33071	0.0:0.6244:0.0:0.3756	.	2012	P04114	APOB_HUMAN	Q	2012	ENSP00000233242:R2012Q	ENSP00000233242:R2012Q	R	-	2	0	APOB	21087210	0.000000	0.05858	0.076000	0.20297	0.117000	0.20001	-0.405000	0.07196	0.275000	0.22094	-0.300000	0.09419	CGA	.		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
ARCN1	372	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	118452209	118452209	+	Silent	SNP	G	G	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr11:118452209G>A	ENST00000264028.4	+	2	347	c.252G>A	c.(250-252)agG>agA	p.R84R	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Silent_p.R125R|ARCN1_ENST00000392859.3_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	84					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGACCCTAAGGCTCTTCTCAA	0.383																																					p.R84R		.											.	ARCN1	90	0			c.G252A						.						73.0	74.0	74.0					11																	118452209		2200	4295	6495	SO:0001819	synonymous_variant	372	exon2			CCTAAGGCTCTTC	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.252G>A	11.37:g.118452209G>A		70.0	0.0		56.0	25.0	NM_001655	B4E1X2|E9PEU4|Q52M80	Silent	SNP	ENST00000264028.4	37	CCDS8400.1																																																																																			.		0.383	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1		
ARHGAP31	57514	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	119133178	119133178	+	Missense_Mutation	SNP	A	A	C			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr3:119133178A>C	ENST00000264245.4	+	12	2934	c.2402A>C	c.(2401-2403)aAg>aCg	p.K801T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	801					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CTGCTTTCAAAGGGCGGCCCG	0.552																																					p.K801T	Pancreas(7;176 297 5394 51128 51241)	.											.	ARHGAP31	92	0			c.A2402C						.						55.0	57.0	56.0					3																	119133178		1892	4104	5996	SO:0001583	missense	57514	exon12			TTTCAAAGGGCGG		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2402A>C	3.37:g.119133178A>C	ENSP00000264245:p.Lys801Thr	46.0	0.0		35.0	12.0	NM_020754	Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.354238	0.24512	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.07567	3.18	5.0	1.21	0.21127	.	0.975022	0.08426	N	0.947581	T	0.04543	0.0124	N	0.19112	0.55	0.09310	N	1	B	0.28128	0.201	B	0.24155	0.051	T	0.46652	-0.9176	10	0.17369	T	0.5	.	3.1138	0.06367	0.5034:0.0:0.172:0.3246	.	801	Q2M1Z3	RHG31_HUMAN	T	801	ENSP00000264245:K801T	ENSP00000264245:K801T	K	+	2	0	ARHGAP31	120615868	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	0.098000	0.15189	0.116000	0.18110	0.533000	0.62120	AAG	.		0.552	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2		
AURKA	6790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	54961384	54961384	+	Missense_Mutation	SNP	C	C	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr20:54961384C>T	ENST00000347343.2	-	3	515	c.248G>A	c.(247-249)aGt>aAt	p.S83N	AURKA_ENST00000312783.6_Missense_Mutation_p.S83N|AURKA_ENST00000395914.1_Missense_Mutation_p.S83N|AURKA_ENST00000395911.1_Missense_Mutation_p.S83N|AURKA_ENST00000395907.1_Missense_Mutation_p.S83N|AURKA_ENST00000395909.4_Missense_Mutation_p.S83N|AURKA_ENST00000395915.3_Missense_Mutation_p.S83N|AURKA_ENST00000371356.2_Missense_Mutation_p.S83N|AURKA_ENST00000395913.3_Missense_Mutation_p.S83N	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	83					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			ATGAGGTACACTGGTTGCCTG	0.493																																					p.S83N	Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	.											.	AURKA	1601	0			c.G248A						.						179.0	156.0	164.0					20																	54961384		2203	4300	6503	SO:0001583	missense	6790	exon3			GGTACACTGGTTG	BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.248G>A	20.37:g.54961384C>T	ENSP00000216911:p.Ser83Asn	227.0	0.0		200.0	77.0	NM_198437	E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Missense_Mutation	SNP	ENST00000347343.2	37	CCDS13451.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321452	0.23994	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249	T;T;T;T;T;T;T;T;T;T;T;T;T	0.70399	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.48;-0.06;2.72;2.5;2.43	4.15	-0.229	0.13094	.	1.261820	0.05133	N	0.492845	T	0.54303	0.1850	L	0.38175	1.15	0.09310	N	1	B;B;B;B;B;B;B	0.34015	0.0;0.435;0.003;0.001;0.002;0.215;0.0	B;B;B;B;B;B;B	0.30572	0.0;0.117;0.004;0.002;0.004;0.07;0.001	T	0.38714	-0.9648	10	0.31617	T	0.26	-29.8103	1.7637	0.02998	0.3297:0.3575:0.204:0.1088	.	83;83;83;83;83;83;83	Q5QPD1;Q5QPD2;A3KFJ1;Q5QPD4;A3KFJ0;B2R6Z3;O14965	.;.;.;.;.;.;AURKA_HUMAN	N	83	ENSP00000379245:S83N;ENSP00000379250:S83N;ENSP00000216911:S83N;ENSP00000379251:S83N;ENSP00000321591:S83N;ENSP00000360407:S83N;ENSP00000379249:S83N;ENSP00000379247:S83N;ENSP00000379243:S83N;ENSP00000393452:S83N;ENSP00000388073:S83N;ENSP00000405042:S83N;ENSP00000405170:S83N	ENSP00000321591:S83N	S	-	2	0	AURKA	54394791	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.022000	0.12480	0.006000	0.14734	0.655000	0.94253	AGT	.		0.493	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600	
C11orf54	28970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	93494680	93494680	+	Splice_Site	SNP	G	G	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr11:93494680G>A	ENST00000331239.4	+	9	953		c.e9-1		C11orf54_ENST00000354421.3_Splice_Site|C11orf54_ENST00000528099.1_Splice_Site|C11orf54_ENST00000540113.1_Splice_Site|C11orf54_ENST00000528288.1_Splice_Site			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54						metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGTTATCTTAGGGGTTTGATT	0.343																																					.		.											.	C11orf54	90	0			c.625-1G>A						.						136.0	134.0	134.0					11																	93494680		2201	4298	6499	SO:0001630	splice_region_variant	28970	exon8			ATCTTAGGGGTTT	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.775-1G>A	11.37:g.93494680G>A		129.0	0.0		140.0	40.0	NM_014039	A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Splice_Site	SNP	ENST00000331239.4	37		.	.	.	.	.	.	.	.	.	.	G	20.3	3.959116	0.74016	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000524485;ENST00000533154	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6695	0.91506	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C11orf54	93134328	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.308000	0.96247	2.407000	0.81776	0.561000	0.74099	.	.		0.343	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039	Intron
C16orf70	80262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	67159932	67159932	+	Missense_Mutation	SNP	A	A	G	rs528433156		TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr16:67159932A>G	ENST00000219139.3	+	3	406	c.218A>G	c.(217-219)aAt>aGt	p.N73S	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.N73S	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	73										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GATGCTTTCAATCAGAGACTT	0.373													A|||	1	0.000199681	0.0	0.0	5008	,	,		22231	0.0		0.0	False		,,,				2504	0.001				p.N73S		.											.	C16orf70	70	0			c.A218G						.						137.0	136.0	137.0					16																	67159932		2200	4300	6500	SO:0001583	missense	80262	exon3			CTTTCAATCAGAG	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.218A>G	16.37:g.67159932A>G	ENSP00000219139:p.Asn73Ser	36.0	0.0		30.0	9.0	NM_025187	Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.022540	0.35701	.	.	ENSG00000125149	ENST00000219139	.	.	.	6.17	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.17066	0.0410	N	0.02674	-0.535	0.52501	D	0.999953	B;B	0.24092	0.026;0.097	B;B	0.24269	0.02;0.052	T	0.17471	-1.0368	9	0.02654	T	1	-16.5417	6.8364	0.23939	0.7923:0.0:0.0731:0.1346	.	51;73	Q9BSU1-2;Q9BSU1	.;CP070_HUMAN	S	73	.	ENSP00000219139:N73S	N	+	2	0	C16orf70	65717433	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.883000	0.69721	0.556000	0.29098	0.533000	0.62120	AAT	.		0.373	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187	
C17orf47	284083	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	56620718	56620718	+	Missense_Mutation	SNP	A	A	G			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr17:56620718A>G	ENST00000321691.3	-	1	1011	c.830T>C	c.(829-831)gTc>gCc	p.V277A	RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	277										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATCTTTAAGGACAGAGAGTTT	0.453																																					p.V277A		.											.	C17orf47	135	0			c.T830C						.						98.0	95.0	96.0					17																	56620718		2203	4300	6503	SO:0001583	missense	284083	exon1			TTAAGGACAGAGA		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.830T>C	17.37:g.56620718A>G	ENSP00000354874:p.Val277Ala	107.0	0.0		130.0	50.0	NM_001038704	Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120417	0.56613	.	.	ENSG00000181013	ENST00000321691	T	0.37058	1.22	5.46	2.08	0.27032	.	0.976288	0.08395	N	0.952368	T	0.24624	0.0597	N	0.24115	0.695	0.09310	N	1	B	0.23891	0.093	B	0.19666	0.026	T	0.26950	-1.0088	10	0.59425	D	0.04	0.2948	6.5089	0.22210	0.7201:0.0:0.2799:0.0	.	277	Q8NEP4	CQ047_HUMAN	A	277	ENSP00000354874:V277A	ENSP00000354874:V277A	V	-	2	0	C17orf47	53975717	0.904000	0.30761	0.044000	0.18714	0.075000	0.17131	1.330000	0.33781	0.380000	0.24823	-0.376000	0.06991	GTC	.		0.453	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704	
C9orf135	138255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	9	72459518	72459518	+	Nonsense_Mutation	SNP	C	C	T	rs372154813		TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr9:72459518C>T	ENST00000377197.3	+	2	325	c.238C>T	c.(238-240)Cga>Tga	p.R80*	C9orf135_ENST00000466872.2_Intron|C9orf135_ENST00000527647.1_Nonsense_Mutation_p.R80*	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	80						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						AACATATCGGCGACTGGGAAC	0.383																																					p.R80X		.											.	C9orf135	69	0			c.C238T						.	C	stop/ARG	0,4406		0,0,2203	81.0	84.0	83.0		238	1.9	0.6	9		83	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	C9orf135	NM_001010940.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		80/230	72459518	1,13005	2203	4300	6503	SO:0001587	stop_gained	138255	exon2			TATCGGCGACTGG		CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.238C>T	9.37:g.72459518C>T	ENSP00000366402:p.Arg80*	76.0	0.0		43.0	13.0	NM_001010940	A7E2U4|B2RN61	Nonsense_Mutation	SNP	ENST00000377197.3	37	CCDS35041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.44|16.44	3.124574|3.124574	0.56613|0.56613	0.0|0.0	1.16E-4|1.16E-4	ENSG00000204711|ENSG00000204711	ENST00000480564|ENST00000377197;ENST00000527647	.|.	.|.	.|.	5.35|5.35	1.93|1.93	0.25924|0.25924	.|.	.|0.141488	.|0.32015	.|N	.|0.006707	T|.	0.24509|.	0.0594|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35425|.	-0.9789|.	3|.	.|0.02654	.|T	.|1	-11.4236|-11.4236	11.3758|11.3758	0.49726|0.49726	0.6508:0.3492:0.0:0.0|0.6508:0.3492:0.0:0.0	.|.	.|.	.|.	.|.	V|X	53|80	.|.	.|ENSP00000366402:R80X	A|R	+|+	2|1	0|2	C9orf135|C9orf135	71649338|71649338	0.194000|0.194000	0.23325|0.23325	0.616000|0.616000	0.29078|0.29078	0.341000|0.341000	0.28922|0.28922	0.333000|0.333000	0.19768|0.19768	0.615000|0.615000	0.30124|0.30124	0.655000|0.655000	0.94253|0.94253	GCG|CGA	.		0.383	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	NM_001010940	
CACNA1E	777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	181701775	181701775	+	Missense_Mutation	SNP	C	C	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr1:181701775C>A	ENST00000367573.2	+	20	2553	c.2553C>A	c.(2551-2553)agC>agA	p.S851R	CACNA1E_ENST00000526775.1_Missense_Mutation_p.S832R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S783R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S802R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S832R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S458R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S851R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	851					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGCGCATCAGCCGTGGGGGGT	0.682																																					p.S851R		.											.	CACNA1E	95	0			c.C2553A						.						12.0	15.0	14.0					1																	181701775		1884	4072	5956	SO:0001583	missense	777	exon20			CATCAGCCGTGGG	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2553C>A	1.37:g.181701775C>A	ENSP00000356545:p.Ser851Arg	61.0	0.0		98.0	18.0	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	9.422	1.083395	0.20309	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96104	-3.85;-3.85;-3.85;-3.85;-3.91;-3.85;-3.85	4.14	3.21	0.36854	.	2.396100	0.01164	N	0.006715	D	0.89033	0.6600	N	0.08118	0	0.36238	D	0.853065	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.77958	-0.2392	10	0.18710	T	0.47	.	6.7396	0.23428	0.0:0.6747:0.2256:0.0997	.	832;851;851	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	R	851;832;802;783;458;832;851	ENSP00000356542:S851R;ENSP00000434814:S832R;ENSP00000350183:S802R;ENSP00000351101:S783R;ENSP00000356539:S458R;ENSP00000353222:S832R;ENSP00000356545:S851R	ENSP00000350183:S802R	S	+	3	2	CACNA1E	179968398	0.079000	0.21365	0.999000	0.59377	0.943000	0.58893	0.077000	0.14738	1.302000	0.44855	0.561000	0.74099	AGC	.		0.682	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
CASP4	837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	104819259	104819259	+	Splice_Site	SNP	C	C	A	rs144482787		TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr11:104819259C>A	ENST00000444739.2	-	6	1836		c.e6+1		CASP4_ENST00000531333.1_5'Flank|CASP4_ENST00000393150.3_Splice_Site	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase						apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AAGATACATACGTGGCGTTGA	0.438																																					.		.											.	CASP4	660	0			c.757+1G>T						.						124.0	91.0	102.0					11																	104819259		2202	4299	6501	SO:0001630	splice_region_variant	837	exon7			TACATACGTGGCG	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.925+1G>T	11.37:g.104819259C>A		70.0	0.0		46.0	15.0	NM_033306	A2NHL8|A2NHM0	Splice_Site	SNP	ENST00000444739.2	37	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763490	0.31228	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9508	0.79835	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CASP4	104324469	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	5.233000	0.65337	2.351000	0.79841	0.484000	0.47621	.	C|1.000;T|0.000		0.438	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225	Intron
CDKN2A	1029	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	C	rs121913385		TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr9:21971111G>C	ENST00000304494.5	-	2	517	c.247C>G	c.(247-249)Cac>Gac	p.H83D	CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32D|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97G|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138G|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97G	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																											p.A97G		.											CDKN2A,NS,carcinoma,+1	CDKN2A	23992	1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	c.C290G	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385	.						12.0	15.0	14.0					9																	21971111		2176	4259	6435	SO:0001583	missense	1029	exon2			CGTCGTGCACGGG	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.247C>G	9.37:g.21971111G>C	ENSP00000307101:p.His83Asp	71.0	0.0		35.0	17.0	NM_058195	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.311283|4.311283	0.81358|0.81358	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71341	-1.37;-1.3|-0.56;-0.56	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77370|0.77370	0.4120|0.4120	L|L	0.27053|0.27053	0.805|0.805	0.45962|0.45962	D|D	0.998784|0.998784	P|D	0.36144|0.71674	0.539|0.998	B|D	0.37480|0.79784	0.251|0.993	T|T	0.77773|0.77773	-0.2462|-0.2462	10|9	0.54805|0.52906	T|T	0.06|0.07	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	G|D	138;97|83	ENSP00000355153:A138G;ENSP00000432664:A97G|ENSP00000307101:H83D;ENSP00000394932:H83D	ENSP00000355153:A138G|ENSP00000307101:H83D	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC	.		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	
CFL1	1072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	65623665	65623665	+	Missense_Mutation	SNP	T	T	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr11:65623665T>A	ENST00000525451.2	-	3	767	c.52A>T	c.(52-54)Atg>Ttg	p.M18L	CFL1_ENST00000531407.1_Start_Codon_SNP_p.M1L|CFL1_ENST00000527344.1_Start_Codon_SNP_p.M1L|CFL1_ENST00000308162.5_Missense_Mutation_p.M18L|CFL1_ENST00000524553.1_Start_Codon_SNP_p.M1L|CFL1_ENST00000534769.1_Missense_Mutation_p.M56L|CFL1_ENST00000531413.1_Start_Codon_SNP_p.M1L			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	18	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin cytoskeleton organization (GO:0030036)|actin filament depolymerization (GO:0030042)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytoskeleton organization (GO:0007010)|establishment of cell polarity (GO:0030010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|mitotic cytokinesis (GO:0000281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell size (GO:0045792)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament depolymerization (GO:0030836)|protein import into nucleus (GO:0006606)|protein phosphorylation (GO:0006468)|regulation of cell morphogenesis (GO:0022604)|response to amino acid (GO:0043200)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		CGCACCTTCATGTCGTTGAAC	0.527																																					p.M18L	Esophageal Squamous(90;820 1366 3932 32351 42291)	.											.	CFL1	90	0			c.A52T						.						91.0	82.0	85.0					11																	65623665		2201	4297	6498	SO:0001583	missense	1072	exon2			CCTTCATGTCGTT	X95404	CCDS8114.1	11q13.1	2010-12-03			ENSG00000172757	ENSG00000172757			1874	protein-coding gene	gene with protein product		601442		CFL		8800436	Standard	NM_005507		Approved		uc001ofs.3	P23528		ENST00000525451.2:c.52A>T	11.37:g.65623665T>A	ENSP00000432660:p.Met18Leu	79.0	0.0		62.0	23.0	NM_005507	B3KUQ1|Q53Y87|Q9UCA2	Missense_Mutation	SNP	ENST00000525451.2	37	CCDS8114.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.205823	0.58234	.	.	ENSG00000172757	ENST00000525451;ENST00000308162;ENST00000527344;ENST00000531407;ENST00000524553;ENST00000534769;ENST00000531413;ENST00000532134;ENST00000530413;ENST00000534784;ENST00000526975	D;D;T;T;T;D;T;D;T;T;D	0.82526	-1.62;-1.62;-1.36;-1.36;-1.36;-1.62;-1.36;-1.62;-1.36;-1.36;-1.62	4.13	2.98	0.34508	Actin-binding, cofilin/tropomyosin type (1);	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	N	0.03917	-0.325	0.80722	D	1	B	0.23316	0.083	B	0.35931	0.214	T	0.55062	-0.8199	10	0.02654	T	1	.	8.5544	0.33471	0.1726:0.0:0.0:0.8273	.	18	P23528	COF1_HUMAN	L	18;18;1;1;1;56;1;18;1;1;18	ENSP00000432660:M18L;ENSP00000309629:M18L;ENSP00000432155:M1L;ENSP00000433910:M1L;ENSP00000432226:M1L;ENSP00000431696:M56L;ENSP00000433131:M1L;ENSP00000436431:M18L;ENSP00000436899:M1L;ENSP00000433308:M1L;ENSP00000432153:M18L	ENSP00000309629:M18L	M	-	1	0	CFL1	65380241	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.938000	0.70170	0.892000	0.36259	0.533000	0.62120	ATG	.		0.527	CFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390701.3	NM_005507	
CHD7	55636	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	61693771	61693771	+	Missense_Mutation	SNP	C	C	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr8:61693771C>A	ENST00000423902.2	+	3	2357	c.1878C>A	c.(1876-1878)aaC>aaA	p.N626K	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.N626K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	626	Lys-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGGTAGATAACCAAGAACTAA	0.403																																					p.N626K		.											.	CHD7	141	1	Insertion - In frame(1)	lung(1)	c.C1878A						.						46.0	45.0	45.0					8																	61693771		1827	4075	5902	SO:0001583	missense	55636	exon3			AGATAACCAAGAA	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1878C>A	8.37:g.61693771C>A	ENSP00000392028:p.Asn626Lys	30.0	0.0		24.0	5.0	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961216	0.53400	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	T;T	0.80566	-1.39;-0.97	5.23	4.33	0.51752	.	0.129705	0.35585	N	0.003117	T	0.61874	0.2382	N	0.08118	0	0.38800	D	0.955177	B	0.02656	0.0	B	0.04013	0.001	T	0.58323	-0.7656	10	0.07644	T	0.81	-12.1445	15.9991	0.80275	0.0:0.8651:0.1349:0.0	.	626	Q9P2D1	CHD7_HUMAN	K	626	ENSP00000392028:N626K;ENSP00000436027:N626K	ENSP00000307304:N626K	N	+	3	2	CHD7	61856325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.309000	0.43699	1.302000	0.44855	0.650000	0.86243	AAC	.		0.403	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
COL4A2	1284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	111141810	111141810	+	Missense_Mutation	SNP	G	G	C			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr13:111141810G>C	ENST00000360467.5	+	35	3532	c.3226G>C	c.(3226-3228)Ggg>Cgg	p.G1076R		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1076	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGTGCCCCAGGGAGAGCAGG	0.493																																					p.G1076R		.											.	COL4A2	95	0			c.G3226C						.						115.0	120.0	119.0					13																	111141810		2041	4187	6228	SO:0001583	missense	1284	exon35			GCCCCAGGGAGAG	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3226G>C	13.37:g.111141810G>C	ENSP00000353654:p.Gly1076Arg	107.0	0.0		66.0	15.0	NM_001846	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.695909	0.68386	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99637	-6.29	5.52	5.52	0.82312	.	0.000000	0.56097	D	0.000034	D	0.99792	0.9912	H	0.97465	4.01	0.48087	D	0.999583	D	0.89917	1.0	D	0.97110	1.0	D	0.97059	0.9769	10	0.72032	D	0.01	.	16.3909	0.83537	0.0:0.0:1.0:0.0	.	1076	P08572	CO4A2_HUMAN	R	1076	ENSP00000353654:G1076R	ENSP00000257309:G1076R	G	+	1	0	COL4A2	109939811	0.998000	0.40836	0.045000	0.18777	0.005000	0.04900	4.984000	0.63838	2.595000	0.87683	0.655000	0.94253	GGG	.		0.493	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
COL9A1	1297	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	71003965	71003965	+	Frame_Shift_Del	DEL	T	T	-	rs534004614		TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr6:71003965delT	ENST00000357250.6	-	5	759	c.601delA	c.(601-603)attfs	p.I201fs	COL9A1_ENST00000370496.3_Frame_Shift_Del_p.I201fs	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	201	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AAAGATTCAATCCTGTTGCAG	0.428																																					p.I201fs		.											.	COL9A1	94	0			c.601delA						.						124.0	121.0	122.0					6																	71003965		2203	4300	6503	SO:0001589	frameshift_variant	1297	exon5			ATTCAATCCTGTT		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.601delA	6.37:g.71003965delT	ENSP00000349790:p.Ile201fs	121.0	0.0		114.0	45.0	NM_001851	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Frame_Shift_Del	DEL	ENST00000357250.6	37	CCDS4971.1																																																																																			.		0.428	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		
CPS1	1373	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	211455540	211455540	+	Missense_Mutation	SNP	G	G	A	rs148654695	byFrequency	TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr2:211455540G>A	ENST00000233072.5	+	9	1053	c.857G>A	c.(856-858)cGc>cAc	p.R286H	CPS1_ENST00000430249.2_Missense_Mutation_p.R292H|CPS1_ENST00000451903.2_5'Flank	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	286	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GAGAGTGATCGCAAGGAGCCA	0.383													G|||	3	0.000599042	0.0015	0.0	5008	,	,		11335	0.001		0.0	False		,,,				2504	0.0				p.R292H		.											.	CPS1	162	0			c.G875A						.	G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	83.0	91.0	89.0		875,857	5.8	1.0	2	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense	CPS1	NM_001122633.2,NM_001875.4	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	292/1507,286/1501	211455540	1,13005	2203	4300	6503	SO:0001583	missense	1373	exon10			GTGATCGCAAGGA	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.857G>A	2.37:g.211455540G>A	ENSP00000233072:p.Arg286His	61.0	0.0		40.0	16.0	NM_001122633	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	33	5.276445	0.95459	2.27E-4	0.0	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.89875	-2.58;-2.58	5.82	5.82	0.92795	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.92489	0.7615	L	0.56199	1.76	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.59761	0.863;0.863	D	0.92175	0.5747	10	0.56958	D	0.05	-2.6151	20.0812	0.97776	0.0:0.0:1.0:0.0	.	296;286	Q59HF8;P31327	.;CPSM_HUMAN	H	292;294;286;286	ENSP00000402608:R292H;ENSP00000233072:R286H	ENSP00000233072:R286H	R	+	2	0	CPS1	211163785	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.663000	0.83820	2.744000	0.94065	0.585000	0.79938	CGC	G|0.999;A|0.000		0.383	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
CTNNB1	1499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	41266101	41266101	+	Missense_Mutation	SNP	C	C	G	rs121913416|rs121913400		TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr3:41266101C>G	ENST00000349496.5	+	3	378	c.98C>G	c.(97-99)tCt>tGt	p.S33C	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> F (in PTR, MDB and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> L (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:9065402}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TACCTGGACTCTGGAATCCAT	0.488	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												p.S33C	Colon(6;3 56 14213 18255)	.		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	CTNNB1,gallbladder,other,0	CTNNB1	24361	468	Substitution - Missense(331)|Deletion - In frame(111)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	liver(165)|central_nervous_system(82)|large_intestine(40)|endometrium(37)|stomach(32)|skin(21)|ovary(20)|pituitary(19)|pancreas(12)|lung(7)|biliary_tract(6)|soft_tissue(4)|bone(4)|breast(3)|prostate(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|parathyroid(2)|small_intestine(2)|thyroid(1)|NS(1)|urinary_tract(1)|adrenal_gland(1)	c.C98G						.						92.0	77.0	82.0					3																	41266101		2203	4300	6503	SO:0001583	missense	1499	exon3	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	TGGACTCTGGAAT	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.98C>G	3.37:g.41266101C>G	ENSP00000344456:p.Ser33Cys	215.0	1.0		149.0	16.0	NM_001098209	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381716	0.82792	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74188	-0.3746	10	0.87932	D	0	-10.7796	19.9596	0.97236	0.0:1.0:0.0:0.0	.	33	P35222	CTNB1_HUMAN	C	26;33;33;33;33;26;33;33;33	ENSP00000400508:S26C;ENSP00000385604:S33C;ENSP00000412219:S33C;ENSP00000379486:S33C;ENSP00000344456:S33C;ENSP00000411226:S26C;ENSP00000379488:S33C;ENSP00000409302:S33C;ENSP00000401599:S33C	ENSP00000344456:S33C	S	+	2	0	CTNNB1	41241105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	TCT	.		0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
CUL3	8452	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	225376243	225376243	+	Silent	SNP	T	T	C			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr2:225376243T>C	ENST00000264414.4	-	6	1049	c.711A>G	c.(709-711)gtA>gtG	p.V237V	CUL3_ENST00000432260.2_5'Flank|CUL3_ENST00000409096.1_Silent_p.V213V|CUL3_ENST00000344951.4_Silent_p.V171V|CUL3_ENST00000409777.1_Silent_p.V213V	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	237					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTCTAGCTTCTACTTTCTTTA	0.313																																					p.V243V		.											.	CUL3	229	0			c.A729G						.						138.0	138.0	138.0					2																	225376243		2203	4299	6502	SO:0001819	synonymous_variant	8452	exon6			AGCTTCTACTTTC	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.711A>G	2.37:g.225376243T>C		202.0	0.0		154.0	47.0	NM_001257198	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Silent	SNP	ENST00000264414.4	37	CCDS2462.1																																																																																			.		0.313	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2		
DDO	8528	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	110714035	110714035	+	Missense_Mutation	SNP	C	C	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr6:110714035C>A	ENST00000368924.3	-	5	1068	c.1053G>T	c.(1051-1053)agG>agT	p.R351S	DDO_ENST00000368923.3_Missense_Mutation_p.R292S	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	323					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CGCTCACCAGCCTGGCGGCCT	0.567																																					p.R351S		.											.	DDO	155	0			c.G1053T						.						50.0	45.0	47.0					6																	110714035		2203	4300	6503	SO:0001583	missense	8528	exon5			CACCAGCCTGGCG	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.1053G>T	6.37:g.110714035C>A	ENSP00000357920:p.Arg351Ser	46.0	1.0		30.0	14.0	NM_003649	A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	37	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111002	0.37242	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	T;T;T	0.44482	0.92;0.92;0.92	5.87	2.08	0.27032	.	0.685183	0.15058	N	0.282912	T	0.13756	0.0333	L	0.52759	1.655	0.38315	D	0.943371	B;B	0.33883	0.037;0.43	B;B	0.26693	0.029;0.072	T	0.06789	-1.0807	10	0.21540	T	0.41	-5.6394	6.4392	0.21841	0.0:0.4696:0.1262:0.4043	.	292;351	Q99489-4;Q99489-3	.;.	S	351;292;323	ENSP00000357920:R351S;ENSP00000357919:R292S;ENSP00000357921:R323S	ENSP00000357919:R292S	R	-	3	2	DDO	110820728	0.412000	0.25392	0.997000	0.53966	0.965000	0.64279	0.616000	0.24344	0.386000	0.24997	0.655000	0.94253	AGG	.		0.567	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1		
DMD	1756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	31496267	31496267	+	Missense_Mutation	SNP	C	C	A	rs398124077		TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chrX:31496267C>A	ENST00000357033.4	-	59	9099	c.8893G>T	c.(8893-8895)Gat>Tat	p.D2965Y	DMD_ENST00000445312.1_5'Flank|DMD_ENST00000359836.1_Missense_Mutation_p.D505Y|DMD_ENST00000378677.2_Missense_Mutation_p.D2961Y|DMD_ENST00000541735.1_Missense_Mutation_p.D505Y|DMD_ENST00000474231.1_Missense_Mutation_p.D505Y|DMD_ENST00000343523.2_Missense_Mutation_p.D505Y|DMD_ENST00000378707.3_Missense_Mutation_p.D505Y	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2965					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.D505Y(1)|p.D1624Y(1)|p.D2961Y(1)|p.D2960Y(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGAGGAGATCGCCCACGGGC	0.532																																					p.D2965Y		.											.	DMD	265	4	Substitution - Missense(4)	lung(4)	c.G8893T						.						57.0	47.0	50.0					X																	31496267		2202	4300	6502	SO:0001583	missense	1756	exon59			GGAGATCGCCCAC	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8893G>T	X.37:g.31496267C>A	ENSP00000354923:p.Asp2965Tyr	111.0	0.0		104.0	30.0	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.69|17.69	3.452010|3.452010	0.63290|0.63290	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.50277|.	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.38164|.	U|.	0.001785|.	T|T	0.77558|0.77558	0.4148|0.4148	M|M	0.76838|0.76838	2.35|2.35	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D;D|.	0.87578|.	0.997;0.994;0.996;0.994;0.994;0.988;0.998;0.998;0.989;0.98;0.998|.	T|T	0.77846|0.77846	-0.2436|-0.2436	10|5	0.87932|.	D|.	0|.	.|.	18.4984|18.4984	0.90873|0.90873	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2957;2965;2961;1624;1621;505;505;505;505;505;2842|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	Y|L	2957;1624;1621;661;2961;2965;505;505;2965;2842;505;505;505|693	ENSP00000350765:D661Y;ENSP00000367948:D2961Y;ENSP00000354923:D2965Y;ENSP00000352894:D505Y;ENSP00000340057:D505Y;ENSP00000367979:D505Y;ENSP00000444119:D505Y;ENSP00000417123:D505Y|.	ENSP00000340057:D505Y|.	D|R	-|-	1|2	0|0	DMD|DMD	31406188|31406188	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.422000|0.422000	0.31414|0.31414	7.445000|7.445000	0.80570|0.80570	2.397000|2.397000	0.81536|0.81536	0.529000|0.529000	0.55759|0.55759	GAT|CGA	.		0.532	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DNAH7	56171	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	196891574	196891574	+	Missense_Mutation	SNP	G	G	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr2:196891574G>T	ENST00000312428.6	-	7	677	c.577C>A	c.(577-579)Cca>Aca	p.P193T	DNAH7_ENST00000410072.1_Missense_Mutation_p.P193T	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	193	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGATGTTGTGGAACTAAATCC	0.358																																					p.P193T		.											.	DNAH7	102	0			c.C577A						.						138.0	131.0	133.0					2																	196891574		1873	4096	5969	SO:0001583	missense	56171	exon7			GTTGTGGAACTAA	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.577C>A	2.37:g.196891574G>T	ENSP00000311273:p.Pro193Thr	105.0	0.0		89.0	26.0	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208443	0.79240	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.25250	1.81;2.43	5.92	5.92	0.95590	.	0.066917	0.64402	D	0.000012	T	0.31765	0.0807	L	0.57536	1.79	0.58432	D	0.999999	B	0.21225	0.053	B	0.21917	0.037	T	0.02885	-1.1098	10	0.37606	T	0.19	.	19.9123	0.97029	0.0:0.0:1.0:0.0	.	193	Q8WXX0	DYH7_HUMAN	T	193	ENSP00000311273:P193T;ENSP00000386260:P193T	ENSP00000311273:P193T	P	-	1	0	DNAH7	196599819	1.000000	0.71417	0.966000	0.40874	0.835000	0.47333	6.390000	0.73204	2.801000	0.96364	0.650000	0.86243	CCA	.		0.358	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
FFAR4	338557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	95326941	95326941	+	Missense_Mutation	SNP	G	G	T	rs567274570	byFrequency	TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr10:95326941G>T	ENST00000371483.4	+	1	520	c.464G>T	c.(463-465)cGg>cTg	p.R155L	FFAR4_ENST00000604414.1_Missense_Mutation_p.R155L|FFAR4_ENST00000371481.4_Missense_Mutation_p.R155L	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	155					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										CGGCGGGCGCGGGCAGTGCTG	0.726																																					p.R155L		.											.	.	.	0			c.G464T						.						11.0	13.0	12.0					10																	95326941		2178	4225	6403	SO:0001583	missense	338557	exon1			GGGCGCGGGCAGT		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"""GPCR / Class A : Fatty acid receptors"""	19061	protein-coding gene	gene with protein product		609044	"""G protein-coupled receptor 129"", ""G protein-coupled receptor 120"", ""omega-3 fatty acid receptor 1"""	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.464G>T	10.37:g.95326941G>T	ENSP00000360538:p.Arg155Leu	58.0	0.0		48.0	17.0	NM_001195755	Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	ENST00000371483.4	37	CCDS31248.1	.	.	.	.	.	.	.	.	.	.	G	0.237	-1.016727	0.02078	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.35973	1.28;1.28	5.22	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.308893	0.27622	N	0.018559	T	0.24928	0.0605	L	0.35644	1.08	0.23773	N	0.996882	B;B	0.10296	0.001;0.003	B;B	0.11329	0.001;0.006	T	0.20405	-1.0276	10	0.56958	D	0.05	-20.9351	4.555	0.12133	0.2115:0.0:0.5726:0.2159	.	155;155	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	L	155	ENSP00000360536:R155L;ENSP00000360538:R155L	ENSP00000360536:R155L	R	+	2	0	O3FAR1	95316931	0.217000	0.23597	0.768000	0.31515	0.034000	0.12701	0.328000	0.19681	0.675000	0.31264	-0.254000	0.11334	CGG	.		0.726	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745	
ENTPD1	953	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	97599472	97599472	+	Missense_Mutation	SNP	T	T	C			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr10:97599472T>C	ENST00000371205.4	+	3	452	c.169T>C	c.(169-171)Tct>Cct	p.S57P	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000543964.1_5'UTR|ENTPD1_ENST00000453258.2_Missense_Mutation_p.S64P|ENTPD1_ENST00000539125.1_Intron|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1_ENST00000371207.3_Missense_Mutation_p.S69P			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	57				SS -> G (in Ref. 9; AA sequence). {ECO:0000305}.	ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGATGCGGGTTCTTCTCACAC	0.418																																					p.S69P		.											.	ENTPD1	93	0			c.T205C						.						209.0	202.0	205.0					10																	97599472		2203	4300	6503	SO:0001583	missense	953	exon3			GCGGGTTCTTCTC	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.169T>C	10.37:g.97599472T>C	ENSP00000360248:p.Ser57Pro	227.0	2.0		170.0	51.0	NM_001164178	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	ENST00000371205.4	37	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.769385	0.90020	.	.	ENSG00000138185	ENST00000453258;ENST00000371206;ENST00000371207;ENST00000371205	T;T;T	0.35236	1.32;1.32;1.32	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	M	0.91872	3.25	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;0.994;1.0;0.951	T	0.75127	-0.3427	10	0.87932	D	0	-22.0224	13.4423	0.61121	0.0:0.0:0.0:1.0	.	69;69;64;57;64	B4DWB9;G3XAF6;P49961-2;P49961;P49961-3	.;.;.;ENTP1_HUMAN;.	P	64;64;69;57	ENSP00000390955:S64P;ENSP00000360250:S69P;ENSP00000360248:S57P	ENSP00000360248:S57P	S	+	1	0	ENTPD1	97589462	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.624000	0.83124	2.269000	0.75478	0.455000	0.32223	TCT	.		0.418	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776	
FGF14	2259	bcgsc.ca;mdanderson.org	37	13	102379114	102379114	+	Missense_Mutation	SNP	T	T	G			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_1	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr13:102379114T>G	ENST00000376143.4	-	4	454	c.455A>C	c.(454-456)aAt>aCt	p.N152T	FGF14_ENST00000376131.4_Missense_Mutation_p.N157T	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	152					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACATAATAATTTTCAAAAAC	0.363																																					p.N157T		.											.	FGF14	586	0			c.A470C						.						63.0	62.0	62.0					13																	102379114		2203	4300	6503	SO:0001583	missense	2259	exon4			TAATAATTTTCAA		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.455A>C	13.37:g.102379114T>G	ENSP00000365313:p.Asn152Thr	136.0	0.0		88.0	32.0	NM_175929	Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371838	0.82573	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	T;T	0.72835	-0.69;-0.69	5.86	5.86	0.93980	.	0.135452	0.64402	D	0.000002	D	0.89245	0.6660	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.80764	0.911;0.994	D	0.92545	0.6045	10	0.87932	D	0	.	16.2505	0.82481	0.0:0.0:0.0:1.0	.	157;152	Q92915-2;Q92915	.;FGF14_HUMAN	T	157;152	ENSP00000365301:N157T;ENSP00000365313:N152T	ENSP00000365301:N157T	N	-	2	0	FGF14	101177115	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.248000	0.74166	0.482000	0.46254	AAT	.		0.363	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2		
FLRT2	23768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	86089754	86089754	+	Silent	SNP	G	G	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr14:86089754G>A	ENST00000330753.4	+	2	2663	c.1896G>A	c.(1894-1896)ggG>ggA	p.G632G	FLRT2_ENST00000554746.1_Silent_p.G632G	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	632					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCCCAAATGGGGGCATTAATT	0.493																																					p.G632G		.											.	FLRT2	94	0			c.G1896A						.						201.0	210.0	207.0					14																	86089754		2203	4296	6499	SO:0001819	synonymous_variant	23768	exon2			AAATGGGGGCATT	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1896G>A	14.37:g.86089754G>A		81.0	0.0		55.0	26.0	NM_013231	A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																			.		0.493	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
GPATCH8	23131	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	42477055	42477055	+	Missense_Mutation	SNP	C	C	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr17:42477055C>A	ENST00000591680.1	-	8	2420	c.2390G>T	c.(2389-2391)cGa>cTa	p.R797L	GPATCH8_ENST00000434000.1_Missense_Mutation_p.R719L	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	797							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCCTGCTCTTCGCTGGCAGGA	0.572																																					p.R797L		.											.	GPATCH8	94	0			c.G2390T						.						102.0	77.0	85.0					17																	42477055		2203	4300	6503	SO:0001583	missense	23131	exon8			GCTCTTCGCTGGC	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2390G>T	17.37:g.42477055C>A	ENSP00000467556:p.Arg797Leu	113.0	1.0		99.0	30.0	NM_001002909	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043946	0.36085	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.12361	2.69	5.21	2.16	0.27623	.	0.264711	0.32548	N	0.005953	T	0.07413	0.0187	N	0.14661	0.345	0.29204	N	0.875045	B	0.27498	0.18	B	0.20577	0.03	T	0.15752	-1.0426	10	0.54805	T	0.06	-0.5575	8.998	0.36063	0.0:0.7561:0.0:0.2439	.	797	Q9UKJ3	GPTC8_HUMAN	L	797;719	ENSP00000395016:R719L	ENSP00000335486:R797L	R	-	2	0	GPATCH8	39832581	0.924000	0.31332	0.996000	0.52242	0.914000	0.54420	0.010000	0.13242	0.368000	0.24481	0.561000	0.74099	CGA	.		0.572	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909	
GPHN	10243	broad.mit.edu;ucsc.edu;mdanderson.org	37	14	67389470	67389470	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr14:67389470G>T	ENST00000315266.5	+	7	1665	c.544G>T	c.(544-546)Gaa>Taa	p.E182*	GPHN_ENST00000459628.1_Nonsense_Mutation_p.E164*|GPHN_ENST00000543237.1_Nonsense_Mutation_p.E195*|GPHN_ENST00000478722.1_Nonsense_Mutation_p.E182*|GPHN_ENST00000305960.9_Nonsense_Mutation_p.E151*|GPHN_ENST00000544752.2_3'UTR	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	182	Interaction with GABARAP. {ECO:0000250}.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GGTGCATGATGAACTTGAAGA	0.463			T	MLL	AL																																p.E182X		.		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	.	GPHN	228	0			c.G544T						.						217.0	187.0	197.0					14																	67389470		2203	4300	6503	SO:0001587	stop_gained	10243	exon7			CATGATGAACTTG	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.544G>T	14.37:g.67389470G>T	ENSP00000312771:p.Glu182*	87.0	1.0		23.0	15.0	NM_001024218	Q9H4E9|Q9P2G2	Nonsense_Mutation	SNP	ENST00000315266.5	37	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	36	5.764464	0.96906	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000459628;ENST00000543237;ENST00000305960;ENST00000555456	.	.	.	4.73	4.73	0.59995	.	0.047033	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-8.9267	17.6744	0.88226	0.0:0.0:1.0:0.0	.	.	.	.	X	182;182;164;195;151;115	.	ENSP00000303019:E151X	E	+	1	0	GPHN	66459223	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.550000	0.98110	2.156000	0.67533	0.655000	0.94253	GAA	.		0.463	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806	
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	185976272	185976272	+	Silent	SNP	G	G	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr1:185976272G>A	ENST00000271588.4	+	30	4717	c.4488G>A	c.(4486-4488)ttG>ttA	p.L1496L	HMCN1_ENST00000367492.2_Silent_p.L1496L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1496	Ig-like C2-type 12.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTTATTTTTGGGCGATCCTA	0.348																																					p.L1496L		.											.	HMCN1	113	0			c.G4488A						.						72.0	78.0	76.0					1																	185976272		2203	4300	6503	SO:0001819	synonymous_variant	83872	exon30			ATTTTTGGGCGAT	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4488G>A	1.37:g.185976272G>A		119.0	0.0		172.0	139.0	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																			.		0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
IFI30	10437	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	18284657	18284657	+	Silent	SNP	C	C	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr19:18284657C>T	ENST00000407280.3	+	1	181	c.6C>T	c.(4-6)acC>acT	p.T2T	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	2					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						CTGCGATGACCCTGTCGCCAC	0.667																																					p.T2T		.											.	IFI30	226	0			c.C6T						.						18.0	20.0	19.0					19																	18284657		2035	3901	5936	SO:0001819	synonymous_variant	10437	exon1			GATGACCCTGTCG	J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"""gamma-interferon-inducible lysosomal thiol reductase"", ""interferon gamma-inducible protein 30 preproprotein"""	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.6C>T	19.37:g.18284657C>T		24.0	0.0		15.0	4.0	NM_006332	Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Silent	SNP	ENST00000407280.3	37	CCDS46015.1																																																																																			.		0.667	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	NM_006332	
IFNA13	3447	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	21367937	21367937	+	Missense_Mutation	SNP	A	A	C			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr9:21367937A>C	ENST00000449498.1	-	1	138	c.73T>G	c.(73-75)Tgt>Ggt	p.C25G		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	24					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		GGGAGATCACAGCCCAGAGAG	0.537																																					p.C25G		.											.	IFNA13	23	0			c.T73G						.						64.0	71.0	69.0					9																	21367937		2203	4297	6500	SO:0001583	missense	3447	exon1			GATCACAGCCCAG		CCDS6505.2	9p22	2010-12-10			ENSG00000233816	ENSG00000233816		"""Interferons"""	5419	protein-coding gene	gene with protein product		147578				1385305	Standard	NM_006900		Approved		uc003zpa.2	P01562	OTTHUMG00000019675	ENST00000449498.1:c.73T>G	9.37:g.21367937A>C	ENSP00000394494:p.Cys25Gly	120.0	0.0		86.0	11.0	NM_006900	D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	ENST00000449498.1	37	CCDS6505.2	.	.	.	.	.	.	.	.	.	.	A	12.97	2.096066	0.36952	.	.	ENSG00000233816	ENST00000449498	T	0.05786	3.39	2.56	2.56	0.30785	.	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	M	0.85630	2.765	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01583	-1.1319	10	0.87932	D	0	.	8.2194	0.31532	1.0:0.0:0.0:0.0	.	25	E9PB07	.	G	25	ENSP00000394494:C25G	ENSP00000394494:C25G	C	-	1	0	IFNA13	21357937	0.511000	0.26179	0.005000	0.12908	0.010000	0.07245	4.285000	0.58989	1.167000	0.42706	0.260000	0.18958	TGT	.		0.537	IFNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051904.2	NM_006900	
INHA	3623	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	220439974	220439974	+	Missense_Mutation	SNP	G	G	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr2:220439974G>T	ENST00000243786.2	+	2	1007	c.827G>T	c.(826-828)tGg>tTg	p.W276L		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	276					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GAGCTGGGCTGGGAACGGTGG	0.607																																					p.W276L		.											.	INHA	91	0			c.G827T						.						141.0	140.0	140.0					2																	220439974		2203	4300	6503	SO:0001583	missense	3623	exon2			TGGGCTGGGAACG		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.827G>T	2.37:g.220439974G>T	ENSP00000243786:p.Trp276Leu	89.0	0.0		102.0	37.0	NM_002191	A8K8H5	Missense_Mutation	SNP	ENST00000243786.2	37	CCDS2444.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681252	0.88542	.	.	ENSG00000123999	ENST00000243786	D	0.89746	-2.56	5.48	5.48	0.80851	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96346	0.8808	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97199	0.9863	9	.	.	.	-17.1134	19.3612	0.94438	0.0:0.0:1.0:0.0	.	276	P05111	INHA_HUMAN	L	276	ENSP00000243786:W276L	.	W	+	2	0	INHA	220148218	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.772000	0.91757	2.564000	0.86499	0.561000	0.74099	TGG	.		0.607	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1		
INSIG1	3638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	155094008	155094008	+	Silent	SNP	C	C	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr7:155094008C>T	ENST00000340368.4	+	4	796	c.585C>T	c.(583-585)gcC>gcT	p.A195A	INSIG1_ENST00000342407.5_Intron|INSIG1_ENST00000344756.4_Silent_p.A43A	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	195					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTTAGCAGCCCTATCTTTGG	0.423																																					p.A195A		.											.	INSIG1	90	0			c.C585T						.						108.0	103.0	104.0					7																	155094008		2203	4300	6503	SO:0001819	synonymous_variant	3638	exon4			AGCAGCCCTATCT		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.585C>T	7.37:g.155094008C>T		239.0	0.0		221.0	67.0	NM_005542	A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Silent	SNP	ENST00000340368.4	37	CCDS5938.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311724	0.23821	.	.	ENSG00000186480	ENST00000476756	.	.	.	5.73	-1.21	0.09524	.	.	.	.	.	T	0.43366	0.1244	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29671	-1.0004	4	.	.	.	.	3.963	0.09418	0.1993:0.3996:0.2927:0.1084	.	.	.	.	S	104	.	.	P	+	1	0	INSIG1	154724943	0.012000	0.17670	0.994000	0.49952	0.750000	0.42670	-0.697000	0.05098	0.017000	0.15025	0.650000	0.86243	CCT	.		0.423	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	NM_198336	
IRX1	79192	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	3599650	3599650	+	Silent	SNP	C	C	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr5:3599650C>A	ENST00000302006.3	+	2	640	c.588C>A	c.(586-588)cgC>cgA	p.R196R	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	196					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGGGAGCGCGCAGCAAGGACC	0.632																																					p.R196R		.											.	IRX1	228	0			c.C588A						.						85.0	73.0	77.0					5																	3599650		2203	4300	6503	SO:0001819	synonymous_variant	79192	exon2			AGCGCGCAGCAAG	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.588C>A	5.37:g.3599650C>A		60.0	0.0		68.0	31.0	NM_024337	Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	CCDS34132.1																																																																																			.		0.632	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337	
JAK1	3716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	65306964	65306964	+	Missense_Mutation	SNP	T	T	G			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr1:65306964T>G	ENST00000342505.4	-	19	2861	c.2613A>C	c.(2611-2613)gaA>gaC	p.E871D	JAK1_ENST00000465376.1_5'Flank	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	871					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGAAGCGCTTTTCAAAATGTG	0.478			Mis		ALL																																p.E871D		.		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	.	JAK1	3900	0			c.A2613C						.						101.0	101.0	101.0					1																	65306964		1915	4126	6041	SO:0001583	missense	3716	exon19			GCGCTTTTCAAAA	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2613A>C	1.37:g.65306964T>G	ENSP00000343204:p.Glu871Asp	145.0	0.0		129.0	45.0	NM_002227	Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.251769	0.39797	.	.	ENSG00000162434	ENST00000342505	T	0.77489	-1.1	4.74	1.13	0.20643	Protein kinase-like domain (1);	.	.	.	.	T	0.71204	0.3312	M	0.72894	2.215	0.42632	D	0.993388	D	0.55172	0.97	P	0.51229	0.663	T	0.69468	-0.5137	9	0.40728	T	0.16	-7.1745	10.8454	0.46741	0.0:0.349:0.0:0.651	.	871	P23458	JAK1_HUMAN	D	871	ENSP00000343204:E871D	ENSP00000343204:E871D	E	-	3	2	JAK1	65079552	0.997000	0.39634	0.997000	0.53966	0.752000	0.42762	0.314000	0.19432	-0.136000	0.11475	-1.481000	0.00988	GAA	.		0.478	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
KAT2B	8850	hgsc.bcm.edu;broad.mit.edu	37	3	20181810	20181810	+	Missense_Mutation	SNP	G	G	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr3:20181810G>T	ENST00000263754.4	+	13	2413	c.1958G>T	c.(1957-1959)cGg>cTg	p.R653L	MIR3135A_ENST00000578460.1_RNA	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	653					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CTAAATCCACGGATCCCGTAC	0.418																																					p.R653L		.											.	KAT2B	228	0			c.G1958T						.						83.0	83.0	83.0					3																	20181810		2203	4300	6503	SO:0001583	missense	8850	exon13			ATCCACGGATCCC	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1958G>T	3.37:g.20181810G>T	ENSP00000263754:p.Arg653Leu	71.0	0.0		95.0	4.0	NM_003884	Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664209	0.47572	.	.	ENSG00000114166	ENST00000263754	T	0.22539	1.95	5.41	0.467	0.16721	Acyl-CoA N-acyltransferase (2);	0.381500	0.34460	N	0.003954	T	0.23171	0.0560	M	0.80847	2.515	0.34711	D	0.727731	B	0.26845	0.161	B	0.17979	0.02	T	0.15037	-1.0451	10	0.59425	D	0.04	-1.2702	9.042	0.36322	0.4368:0.0:0.5632:0.0	.	653	Q92831	KAT2B_HUMAN	L	653	ENSP00000263754:R653L	ENSP00000263754:R653L	R	+	2	0	KAT2B	20156814	1.000000	0.71417	0.930000	0.37139	0.720000	0.41350	1.635000	0.37134	-0.127000	0.11661	0.655000	0.94253	CGG	.		0.418	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884	
KCNH1	3756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	210856666	210856666	+	Missense_Mutation	SNP	G	G	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr1:210856666G>T	ENST00000271751.4	-	11	2954	c.2927C>A	c.(2926-2928)cCa>cAa	p.P976Q	KCNH1_ENST00000367007.4_Missense_Mutation_p.P949Q			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	976					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.P976Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGGGACTGTGGCCTCGATAT	0.438																																					p.P976Q		.											.	KCNH1	94	1	Substitution - Missense(1)	lung(1)	c.C2927A						.						95.0	105.0	102.0					1																	210856666		2203	4300	6503	SO:0001583	missense	3756	exon11			GACTGTGGCCTCG	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2927C>A	1.37:g.210856666G>T	ENSP00000271751:p.Pro976Gln	85.0	0.0		130.0	15.0	NM_172362	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663640	0.88251	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99388	-5.81;-5.79	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.99096	0.9689	L	0.55481	1.735	0.80722	D	1	D;D	0.65815	0.987;0.995	P;D	0.64042	0.878;0.921	D	0.99855	1.1076	10	0.54805	T	0.06	.	18.462	0.90741	0.0:0.0:1.0:0.0	.	949;976	Q14CL3;O95259	.;KCNH1_HUMAN	Q	976;949	ENSP00000271751:P976Q;ENSP00000355974:P949Q	ENSP00000271751:P976Q	P	-	2	0	KCNH1	208923289	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.507000	0.97996	2.360000	0.80028	0.655000	0.94253	CCA	.		0.438	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
KDM5A	5927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	443421	443421	+	Missense_Mutation	SNP	G	G	C			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr12:443421G>C	ENST00000399788.2	-	11	1838	c.1476C>G	c.(1474-1476)atC>atG	p.I492M	KDM5A_ENST00000382815.4_Missense_Mutation_p.I492M	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	492	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GCAAGTAGTTGATGGAATAAC	0.393			T	NUP98	AML																																p.I492M		.		Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	.	KDM5A	227	0			c.C1476G						.						131.0	124.0	126.0					12																	443421		2096	4248	6344	SO:0001583	missense	5927	exon11			GTAGTTGATGGAA		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1476C>G	12.37:g.443421G>C	ENSP00000382688:p.Ile492Met	148.0	0.0		86.0	39.0	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635627	0.67130	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	T;T;T	0.72615	-0.67;-0.67;-0.67	5.44	3.52	0.40303	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.84142	0.5407	M	0.88181	2.935	0.54753	D	0.999981	D;D;D;D	0.89917	0.999;0.999;0.99;1.0	D;D;D;D	0.97110	0.998;0.989;0.965;1.0	D	0.83954	0.0318	10	0.87932	D	0	-12.2809	8.7855	0.34818	0.1926:0.0:0.8074:0.0	.	111;492;492;492	B4DVX3;F5H1F7;P29375;P29375-2	.;.;KDM5A_HUMAN;.	M	111;451;492;492;111	ENSP00000382688:I492M;ENSP00000372265:I492M;ENSP00000440622:I111M	ENSP00000261253:I111M	I	-	3	3	KDM5A	313682	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.998000	0.49465	0.580000	0.29522	0.655000	0.94253	ATC	.		0.393	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
KIAA1586	57691	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	56918371	56918371	+	Silent	SNP	A	A	C			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr6:56918371A>C	ENST00000370733.4	+	4	1281	c.1074A>C	c.(1072-1074)atA>atC	p.I358I	KIAA1586_ENST00000545356.1_Silent_p.I331I	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	358							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGTCAACTATAGCAGAGTGTA	0.333																																					p.I358I		.											.	KIAA1586	44	0			c.A1074C						.						116.0	119.0	118.0					6																	56918371		2203	4299	6502	SO:0001819	synonymous_variant	57691	exon4			AACTATAGCAGAG	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.1074A>C	6.37:g.56918371A>C		115.0	2.0		91.0	38.0	NM_020931	A8K4M3|Q8IW25	Silent	SNP	ENST00000370733.4	37	CCDS34480.1																																																																																			.		0.333	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931	
LARP4	113251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	50869602	50869602	+	Silent	SNP	A	A	G			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr12:50869602A>G	ENST00000398473.2	+	16	2242	c.2130A>G	c.(2128-2130)cgA>cgG	p.R710R	LARP4_ENST00000518444.1_Silent_p.R709R|LARP4_ENST00000293618.8_Silent_p.R639R|LARP4_ENST00000429001.3_Silent_p.R716R|LARP4_ENST00000347328.5_Silent_p.R639R	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	710					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GAGTGACTCGACGTAATGGCA	0.453																																					p.R710R		.											.	LARP4	91	0			c.A2130G						.						72.0	73.0	73.0					12																	50869602		1914	4133	6047	SO:0001819	synonymous_variant	113251	exon16			GACTCGACGTAAT	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.2130A>G	12.37:g.50869602A>G		141.0	0.0		91.0	20.0	NM_052879	A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Silent	SNP	ENST00000398473.2	37	CCDS41782.1																																																																																			.		0.453	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879	
LILRA2	11027	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	55086255	55086255	+	Missense_Mutation	SNP	G	G	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr19:55086255G>T	ENST00000251377.3	+	5	543	c.410G>T	c.(409-411)gGg>gTg	p.G137V	LILRA2_ENST00000391737.1_Missense_Mutation_p.G125V|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.G137V|LILRA2_ENST00000391738.3_Missense_Mutation_p.G137V			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	137	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACCTTAGGAGGGAACGTGACC	0.557																																					p.G137V		.											.	LILRA2	91	0			c.G410T						.						159.0	145.0	150.0					19																	55086255		2203	4300	6503	SO:0001583	missense	11027	exon4			TAGGAGGGAACGT	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.410G>T	19.37:g.55086255G>T	ENSP00000251377:p.Gly137Val	53.0	0.0		66.0	18.0	NM_001130917	O75020	Missense_Mutation	SNP	ENST00000251377.3	37	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710724	0.30322	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00808	5.67;5.67;5.67;5.67;5.67	2.93	-0.556	0.11803	Immunoglobulin-like fold (1);	0.540376	0.16737	N	0.201585	T	0.03348	0.0097	M	0.80616	2.505	0.09310	N	1	P;D;P;D;D	0.89917	0.929;0.965;0.92;0.98;1.0	P;P;P;P;D	0.75020	0.526;0.815;0.825;0.867;0.985	T	0.34750	-0.9816	10	0.54805	T	0.06	.	3.0008	0.06012	0.2877:0.2383:0.474:0.0	.	137;137;125;137;137	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	V	137;137;137;137;125	ENSP00000388131:G137V;ENSP00000251377:G137V;ENSP00000375618:G137V;ENSP00000251376:G137V;ENSP00000375617:G125V	ENSP00000251376:G137V	G	+	2	0	LILRA2	59778067	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.194000	0.17135	0.109000	0.17891	-0.358000	0.07595	GGG	.		0.557	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2		
LMTK2	22853	broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	97833378	97833378	+	Missense_Mutation	SNP	G	G	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr7:97833378G>T	ENST00000297293.5	+	13	4656	c.4363G>T	c.(4363-4365)Gcc>Tcc	p.A1455S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1455				Missing (in Ref. 2; BAA83031). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCCGCCACCGGCCCGGAGCAC	0.567																																					p.A1455S		.											.	LMTK2	1381	0			c.G4363T						.						82.0	92.0	89.0					7																	97833378		2203	4300	6503	SO:0001583	missense	22853	exon13			CCACCGGCCCGGA	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4363G>T	7.37:g.97833378G>T	ENSP00000297293:p.Ala1455Ser	51.0	0.0		25.0	9.0	NM_014916	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	6.847	0.525497	0.13066	.	.	ENSG00000164715	ENST00000297293	T	0.79247	-1.25	5.54	1.09	0.20402	.	0.339265	0.32258	N	0.006349	T	0.52240	0.1722	N	0.12182	0.205	0.20074	N	0.999937	B	0.13594	0.008	B	0.08055	0.003	T	0.26503	-1.0101	10	0.21540	T	0.41	.	4.3697	0.11242	0.102:0.4085:0.3536:0.1359	.	1455	Q8IWU2	LMTK2_HUMAN	S	1455	ENSP00000297293:A1455S	ENSP00000297293:A1455S	A	+	1	0	LMTK2	97671314	0.036000	0.19791	0.492000	0.27490	0.201000	0.24016	0.290000	0.18975	0.380000	0.24823	0.563000	0.77884	GCC	.		0.567	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916	
LOXHD1	125336	ucsc.edu;bcgsc.ca	37	18	44143124	44143124	+	Silent	SNP	G	G	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr18:44143124G>T	ENST00000398722.4	-	11	1667	c.1668C>A	c.(1666-1668)gtC>gtA	p.V556V	LOXHD1_ENST00000441551.2_Silent_p.V834V|LOXHD1_ENST00000536736.1_Silent_p.V834V			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	556	PLAT 5. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						TCTGCATGTAGACTCGGGCAC	0.522																																					p.V834V		.											.	.	.	0			c.C2502A						.						70.0	61.0	64.0					18																	44143124		692	1591	2283	SO:0001819	synonymous_variant	125336	exon18			CATGTAGACTCGG	AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.1668C>A	18.37:g.44143124G>T		60.0	0.0		29.0	4.0	NM_144612	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Silent	SNP	ENST00000398722.4	37		.	.	.	.	.	.	.	.	.	.	G	6.866	0.529112	0.13127	.	.	ENSG00000167210	ENST00000441551	.	.	.	5.05	2.2	0.27929	.	.	.	.	.	T	0.52837	0.1759	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39333	-0.9619	4	.	.	.	.	5.1509	0.15009	0.1541:0.0:0.556:0.29	.	.	.	.	I	815	.	.	L	-	1	2	LOXHD1	42397122	1.000000	0.71417	0.732000	0.30844	0.761000	0.43186	1.133000	0.31430	0.144000	0.18951	-0.439000	0.05793	CTA	.		0.522	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_144612	
MAP2	4133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	210561763	210561763	+	Missense_Mutation	SNP	C	C	T	rs369892280		TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr2:210561763C>T	ENST00000360351.4	+	9	5016	c.4510C>T	c.(4510-4512)Cgg>Tgg	p.R1504W	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000475600.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R1500W|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1504					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CTGTGTTAAGCGGAAAACCAC	0.373																																					p.R1504W	Pancreas(27;423 979 28787 29963)	.											.	MAP2	591	0			c.C4510T						.						84.0	90.0	88.0					2																	210561763		2203	4300	6503	SO:0001583	missense	4133	exon9			GTTAAGCGGAAAA		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4510C>T	2.37:g.210561763C>T	ENSP00000353508:p.Arg1504Trp	99.0	0.0		81.0	29.0	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023133	0.54683	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.27104	1.69;1.69	5.56	5.56	0.83823	MAP2/Tau projection (1);	0.000000	0.53938	D	0.000043	T	0.48241	0.1489	M	0.61703	1.905	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	T	0.45145	-0.9281	10	0.87932	D	0	-9.1904	14.385	0.66938	0.1477:0.8523:0.0:0.0	.	1500;1504	P11137-3;P11137	.;MAP2_HUMAN	W	1504;1500	ENSP00000353508:R1504W;ENSP00000392164:R1500W	ENSP00000353508:R1504W	R	+	1	2	MAP2	210270008	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.715000	0.47210	2.626000	0.88956	0.650000	0.86243	CGG	.		0.373	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
MDN1	23195	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	90484380	90484380	+	Missense_Mutation	SNP	G	G	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr6:90484380G>A	ENST00000369393.3	-	13	2009	c.1894C>T	c.(1894-1896)Cgg>Tgg	p.R632W	MDN1_ENST00000428876.1_Missense_Mutation_p.R632W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	632					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CGTAGAAGCCGCACTCGACCC	0.433																																					p.R632W		.											.	MDN1	100	0			c.C1894T						.						161.0	146.0	151.0					6																	90484380		2203	4300	6503	SO:0001583	missense	23195	exon13			GAAGCCGCACTCG	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1894C>T	6.37:g.90484380G>A	ENSP00000358400:p.Arg632Trp	163.0	0.0		148.0	10.0	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487838	0.44249	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.18810	3.93;3.93;2.19	5.32	4.43	0.53597	ATPase, AAA+ type, core (1);	0.473273	0.22025	N	0.065668	T	0.14700	0.0355	L	0.51422	1.61	0.09310	N	0.999998	D;P	0.56968	0.978;0.955	P;P	0.51657	0.586;0.676	T	0.04386	-1.0955	10	0.51188	T	0.08	.	9.3334	0.38036	0.0:0.1402:0.5705:0.2893	.	559;632	Q5T795;Q9NU22	.;MDN1_HUMAN	W	632;632;559	ENSP00000358400:R632W;ENSP00000413970:R632W;ENSP00000409664:R559W	ENSP00000358400:R632W	R	-	1	2	MDN1	90541101	0.015000	0.18098	0.985000	0.45067	0.962000	0.63368	1.251000	0.32862	1.204000	0.43247	0.655000	0.94253	CGG	.		0.433	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MYF5	4617	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	81112792	81112792	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr12:81112792delG	ENST00000228644.3	+	3	882	c.730delG	c.(730-732)gggfs	p.G244fs		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	244					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGCAACTCCAGGGGCTTCTAG	0.507																																					p.G244fs		.											.	MYF5	91	0			c.730delG						.						81.0	81.0	81.0					12																	81112792		2203	4300	6503	SO:0001589	frameshift_variant	4617	exon3			ACTCCAGGGGCTT		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.730delG	12.37:g.81112792delG	ENSP00000228644:p.Gly244fs	77.0	0.0		75.0	22.0	NM_005593	Q6ISR9	Frame_Shift_Del	DEL	ENST00000228644.3	37	CCDS9020.1																																																																																			.		0.507	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593	
NDUFS5	4725	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	39494585	39494585	+	Silent	SNP	C	C	T	rs372457176		TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr1:39494585C>T	ENST00000372969.3	+	2	276	c.189C>T	c.(187-189)ttC>ttT	p.F63F	NDUFS5_ENST00000372967.3_Silent_p.F63F	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	63					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)			ATGATGATTTCGTAGAGTGTT	0.393																																					p.F63F		.											.	NDUFS5	90	0			c.C189T						.	C	,	1,4405	2.1+/-5.4	0,1,2202	114.0	108.0	110.0		189,189	-11.4	0.0	1		110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NDUFS5	NM_001184979.1,NM_004552.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	63/107,63/107	39494585	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4725	exon2			TGATTTCGTAGAG	AF047434	CCDS434.1	1p34.2-p33	2011-07-04	2002-08-29		ENSG00000168653	ENSG00000168653		"""Mitochondrial respiratory chain complex / Complex I"""	7712	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 5"""	603847	"""NADH dehydrogenase (ubiquinone) Fe-S protein 5 (15kD) (NADH-coenzyme Q reductase)"""			9763677, 9653160	Standard	NM_004552		Approved	CI-15k	uc001ccy.3	O43920	OTTHUMG00000007497	ENST00000372969.3:c.189C>T	1.37:g.39494585C>T		89.0	0.0		86.0	31.0	NM_001184979		Silent	SNP	ENST00000372969.3	37	CCDS434.1																																																																																			.		0.393	NDUFS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019688.1	NM_004552	
NHSL1	57224	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	138752106	138752106	+	Missense_Mutation	SNP	C	C	G			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr6:138752106C>G	ENST00000427025.2	-	5	4016	c.3388G>C	c.(3388-3390)Gag>Cag	p.E1130Q	NHSL1_ENST00000343505.5_Missense_Mutation_p.E1126Q	NM_020464.1	NP_065197.1	Q5SYE7	NHSL1_HUMAN	NHS-like 1	1130										breast(2)|endometrium(4)|kidney(1)	7						CTTTCACTCTCCATTTCATTT	0.547																																					p.E1130Q		.											.	NHSL1	68	0			c.G3388C						.						38.0	33.0	34.0					6																	138752106		692	1591	2283	SO:0001583	missense	57224	exon5			CACTCTCCATTTC	AB037778	CCDS47487.1, CCDS55063.1	6q23.3	2009-02-18	2004-10-07	2004-10-07	ENSG00000135540	ENSG00000135540			21021	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 63"""	C6orf63			Standard	NM_001144060		Approved	bA43P8.1, KIAA1357	uc011edp.2	Q5SYE7	OTTHUMG00000016321	ENST00000427025.2:c.3388G>C	6.37:g.138752106C>G	ENSP00000394546:p.Glu1130Gln	172.0	1.0		161.0	43.0	NM_020464	Q3ZCS5|Q5SYE8|Q9P2J0	Missense_Mutation	SNP	ENST00000427025.2	37	CCDS55063.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928486	0.52759	.	.	ENSG00000135540	ENST00000427025;ENST00000343505	T;T	0.52057	0.68;0.68	4.54	3.66	0.41972	.	0.434355	0.21307	N	0.076704	T	0.38719	0.1051	L	0.46157	1.445	0.37568	D	0.919315	P;P	0.52061	0.95;0.95	P;P	0.52309	0.695;0.695	T	0.19289	-1.0310	10	0.34782	T	0.22	-21.4389	14.4683	0.67499	0.0:0.8516:0.1484:0.0	.	1126;1130	E2QRJ1;Q5SYE7	.;NHSL1_HUMAN	Q	1130;1126	ENSP00000394546:E1130Q;ENSP00000344672:E1126Q	ENSP00000344672:E1126Q	E	-	1	0	NHSL1	138793799	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.547000	0.45786	0.880000	0.35969	0.561000	0.74099	GAG	.		0.547	NHSL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043700.2	XM_050421	
PARP1	142	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	226590006	226590006	+	Silent	SNP	C	C	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr1:226590006C>T	ENST00000366794.5	-	2	338	c.195G>A	c.(193-195)cgG>cgA	p.R65R	PARP1_ENST00000366792.1_Silent_p.R65R|PARP1_ENST00000366790.3_Silent_p.R65R|PARP1_ENST00000366791.5_Silent_p.R65R	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	65					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|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)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CGTCAGGGTGCCGGATGGAGT	0.542								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																													p.R65R		.											.	PARP1	727	0			c.G195A						.						87.0	77.0	81.0					1																	226590006		2203	4300	6503	SO:0001819	synonymous_variant	142	exon2			AGGGTGCCGGATG	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.195G>A	1.37:g.226590006C>T		26.0	0.0		40.0	31.0	NM_001618	B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	CCDS1554.1																																																																																			.		0.542	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618	
PGP	283871	broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	2264015	2264015	+	Missense_Mutation	SNP	T	T	C			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr16:2264015T>C	ENST00000333503.7	-	2	709	c.680A>G	c.(679-681)cAg>cGg	p.Q227R	BRICD5_ENST00000328540.3_5'Flank|RP11-304L19.8_ENST00000561544.1_lincRNA	NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	227					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)		magnesium ion binding (GO:0000287)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphoglycolate phosphatase activity (GO:0008967)|protein tyrosine phosphatase activity (GO:0004725)			skin(1)	1						GGCCTGGCGCTGGGCGGCCAT	0.701																																					p.Q227R	GBM(63;906 1080 2092 17773 18795)	.											.	PGP	23	0			c.A680G						.						41.0	45.0	44.0					16																	2264015		1977	4147	6124	SO:0001583	missense	283871	exon2			TGGCGCTGGGCGG	BC035985	CCDS42104.1	16p13.3	2012-10-02				ENSG00000184207	3.1.3.18		8909	protein-coding gene	gene with protein product		172280					Standard	NM_001042371		Approved		uc002cpk.1	A6NDG6		ENST00000333503.7:c.680A>G	16.37:g.2264015T>C	ENSP00000330918:p.Gln227Arg	50.0	1.0		32.0	11.0	NM_001042371		Missense_Mutation	SNP	ENST00000333503.7	37	CCDS42104.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.469114	0.63625	.	.	ENSG00000184207	ENST00000333503	T	0.28666	1.6	4.67	4.67	0.58626	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	0.122860	0.56097	D	0.000026	T	0.23330	0.0564	L	0.28115	0.83	0.50313	D	0.999862	B	0.22983	0.078	B	0.24155	0.051	T	0.04767	-1.0928	10	0.44086	T	0.13	-26.172	13.0765	0.59089	0.0:0.0:0.0:1.0	.	227	A6NDG6	PGP_HUMAN	R	227	ENSP00000330918:Q227R	ENSP00000330918:Q227R	Q	-	2	0	PGP	2204016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.075000	0.57584	1.956000	0.56807	0.533000	0.62120	CAG	.		0.701	PGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435095.1	NM_024118	
PIK3CG	5294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	7	106545719	106545719	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr7:106545719A>T	ENST00000359195.3	+	11	3506	c.3196A>T	c.(3196-3198)Aag>Tag	p.K1066*	PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.K1066*|PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.K1066*	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	1066	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGATGCTAAAAAGTATTTTCT	0.413																																					p.K1066X		.											.	PIK3CG	1316	0			c.A3196T						.						138.0	136.0	137.0					7																	106545719		2203	4300	6503	SO:0001587	stop_gained	5294	exon11			GCTAAAAAGTATT		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.3196A>T	7.37:g.106545719A>T	ENSP00000352121:p.Lys1066*	160.0	0.0		123.0	37.0	NM_002649	A4D0Q6|Q8IV23|Q9BZC8	Nonsense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	A	41	8.754976	0.98941	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	.	.	.	5.94	5.94	0.96194	.	0.138048	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.1533	16.4075	0.83691	1.0:0.0:0.0:0.0	.	.	.	.	X	1066	.	ENSP00000352121:K1066X	K	+	1	0	PIK3CG	106332955	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	3.996000	0.57009	2.275000	0.75901	0.528000	0.53228	AAG	.		0.413	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
PRRG1	5638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	37285115	37285115	+	Silent	SNP	C	C	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chrX:37285115C>A	ENST00000542554.1	+	4	305	c.33C>A	c.(31-33)gcC>gcA	p.A11A	PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000543642.1_Silent_p.A11A|PRRG1_ENST00000449135.2_Silent_p.A11A|TM4SF2_ENST00000465127.1_Silent_p.A11A|PRRG1_ENST00000378628.4_Silent_p.A11A|PRRG1_ENST00000463135.1_Silent_p.A11A	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	11						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						GAGAAAAAGCCAATTCCATAT	0.353																																					p.A11A		.											.	PRRG1	194	0			c.C33A						.						47.0	46.0	46.0					X																	37285115		2202	4300	6502	SO:0001819	synonymous_variant	5638	exon3			AAAAGCCAATTCC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.33C>A	X.37:g.37285115C>A		566.0	1.0		354.0	130.0	NM_001173490	B2R7A3|C9JXL7|D3DWA9|Q5JT66	Silent	SNP	ENST00000542554.1	37	CCDS14239.1																																																																																			.		0.353	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950	
PSMB10	5699	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	67968561	67968561	+	Missense_Mutation	SNP	G	G	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr16:67968561G>A	ENST00000358514.4	-	8	1061	c.724C>T	c.(724-726)Cac>Tac	p.H242Y	CTC-479C5.12_ENST00000573493.1_3'UTR|CTRL_ENST00000574481.1_5'Flank|CTRL_ENST00000576408.1_5'Flank	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	242					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell morphogenesis (GO:0000902)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|humoral immune response (GO:0006959)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Carfilzomib(DB08889)	GGCACAAAGTGGTAGCGGCCA	0.587																																					p.H242Y		.											.	PSMB10	90	0			c.C724T						.						124.0	120.0	121.0					16																	67968561		2198	4300	6498	SO:0001583	missense	5699	exon8			CAAAGTGGTAGCG	Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220		"""Proteasome (prosome, macropain) subunits"""	9538	protein-coding gene	gene with protein product		176847		MECL1		8268911	Standard	NM_002801		Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.724C>T	16.37:g.67968561G>A	ENSP00000351314:p.His242Tyr	62.0	0.0		53.0	22.0	NM_002801	B2R5J4|Q5U098	Missense_Mutation	SNP	ENST00000358514.4	37	CCDS10853.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106125	0.56291	.	.	ENSG00000205220	ENST00000358514	T	0.29655	1.56	5.78	-0.444	0.12245	Proteasome beta subunit, C-terminal (1);	0.780910	0.12241	N	0.486502	T	0.19565	0.0470	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21484	-1.0244	10	0.51188	T	0.08	-10.3564	3.8928	0.09127	0.0787:0.1311:0.3873:0.4029	.	242	P40306	PSB10_HUMAN	Y	242	ENSP00000351314:H242Y	ENSP00000351314:H242Y	H	-	1	0	PSMB10	66526062	0.288000	0.24324	0.103000	0.21229	0.785000	0.44390	0.484000	0.22308	0.316000	0.23135	0.555000	0.69702	CAC	.		0.587	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268887.1	NM_002801	
PTPN13	5783	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	87683886	87683886	+	Missense_Mutation	SNP	C	C	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr4:87683886C>A	ENST00000411767.2	+	24	3623	c.3560C>A	c.(3559-3561)tCt>tAt	p.S1187Y	PTPN13_ENST00000511467.1_Missense_Mutation_p.S1187Y|PTPN13_ENST00000427191.2_Missense_Mutation_p.S1168Y|PTPN13_ENST00000316707.6_Missense_Mutation_p.S996Y|PTPN13_ENST00000436978.1_Missense_Mutation_p.S1187Y			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1187					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTAGTGCCTTCTACTCCTGTG	0.383																																					p.S1187Y		.											.	PTPN13	230	0			c.C3560A						.						72.0	72.0	72.0					4																	87683886		1920	4130	6050	SO:0001583	missense	5783	exon24			TGCCTTCTACTCC		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3560C>A	4.37:g.87683886C>A	ENSP00000407249:p.Ser1187Tyr	82.0	0.0		48.0	24.0	NM_080683	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574332	0.65878	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.56275	0.5;0.52;0.61;0.47;0.52	5.26	5.26	0.73747	.	0.134034	0.34628	N	0.003809	T	0.61236	0.2331	M	0.61703	1.905	0.34315	D	0.685872	D;D;D;D	0.71674	0.998;0.98;0.966;0.98	D;P;P;P	0.79108	0.992;0.648;0.73;0.731	T	0.63501	-0.6623	10	0.02654	T	1	.	9.5356	0.39220	0.0:0.7808:0.1434:0.0758	.	996;1168;1187;1187	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	Y	1168;1187;996;1187;1187;1136	ENSP00000408368:S1168Y;ENSP00000394794:S1187Y;ENSP00000322675:S996Y;ENSP00000407249:S1187Y;ENSP00000426626:S1187Y	ENSP00000322675:S996Y	S	+	2	0	PTPN13	87902910	0.999000	0.42202	1.000000	0.80357	0.918000	0.54935	1.487000	0.35540	2.439000	0.82584	0.650000	0.86243	TCT	.		0.383	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
RALGAPA1	253959	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	14	36008806	36008806	+	3'UTR	SNP	C	C	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr14:36008806C>T	ENST00000389698.3	-	0	6615				RALGAPA1_ENST00000258840.6_3'UTR|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S2065N	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)						activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCGGCTTTTGCTAGTTCGAGG	0.537																																					p.S2065N		.											.	RALGAPA1	138	0			c.G6194A						.						88.0	83.0	85.0					14																	36008806		2203	4297	6500	SO:0001624	3_prime_UTR_variant	253959	exon40			CTTTTGCTAGTTC	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.*114G>A	14.37:g.36008806C>T		65.0	0.0		64.0	18.0	NM_194301	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547936	0.65311	.	.	ENSG00000174373	ENST00000307138;ENST00000554259	D;D	0.97114	-3.51;-4.25	5.53	5.53	0.82687	.	0.190858	0.38111	N	0.001815	D	0.95462	0.8526	N	0.22421	0.69	0.80722	D	1	P	0.46784	0.884	P	0.47864	0.559	D	0.95613	0.8674	10	0.54805	T	0.06	-7.7228	19.8246	0.96612	0.0:1.0:0.0:0.0	.	2065	Q6GYQ0-2	.	N	2065;704	ENSP00000302647:S2065N;ENSP00000451133:S704N	ENSP00000302647:S2065N	S	-	2	0	RALGAPA1	35078557	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.654000	0.67974	2.751000	0.94390	0.561000	0.74099	AGC	.		0.537	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	
RNF43	54894	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	56435197	56435197	+	Missense_Mutation	SNP	A	A	T	rs552361417		TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr17:56435197A>T	ENST00000584437.1	-	8	3895	c.1940T>A	c.(1939-1941)cTc>cAc	p.L647H	RNF43_ENST00000577625.1_Missense_Mutation_p.L520H|RNF43_ENST00000407977.2_Missense_Mutation_p.L647H|RNF43_ENST00000500597.2_Missense_Mutation_p.L606H|RNF43_ENST00000583753.1_Missense_Mutation_p.L606H|RNF43_ENST00000577716.1_Missense_Mutation_p.L647H|RNF43_ENST00000581868.1_Missense_Mutation_p.L520H|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	647	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGGGCAGAGAGGCTGGATTT	0.647																																					p.L647H		.											.	RNF43	92	0			c.T1940A						.						70.0	80.0	77.0					17																	56435197		2200	4295	6495	SO:0001583	missense	54894	exon9			GCAGAGAGGCTGG		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1940T>A	17.37:g.56435197A>T	ENSP00000463069:p.Leu647His	89.0	0.0		82.0	7.0	NM_017763	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	A	5.076	0.199650	0.09652	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.22134	1.97;1.97	4.66	3.53	0.40419	.	0.906266	0.09229	N	0.830816	T	0.16896	0.0406	L	0.29908	0.895	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.12156	0.004;0.007;0.001	T	0.26052	-1.0114	10	0.87932	D	0	-18.1991	7.4488	0.27227	0.7895:0.0:0.0:0.2105	.	606;647;647	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	H	647;606	ENSP00000385328:L647H;ENSP00000441969:L606H	ENSP00000385328:L647H	L	-	2	0	RNF43	53790196	0.992000	0.36948	0.408000	0.26446	0.302000	0.27658	1.577000	0.36515	0.737000	0.32582	0.172000	0.16884	CTC	.		0.647	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763	
SEC22A	26984	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	122978413	122978413	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr3:122978413delG	ENST00000309934.4	+	5	1596	c.700delG	c.(700-702)ggafs	p.G234fs	SEC22A_ENST00000481965.2_Frame_Shift_Del_p.L75fs|SEC22A_ENST00000492595.1_Frame_Shift_Del_p.G234fs	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	234					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		ATTTTTCCTTGGAACAGCAGC	0.358																																					p.G234fs		.											.	SEC22A	91	0			c.700delG						.						89.0	88.0	88.0					3																	122978413		2203	4298	6501	SO:0001589	frameshift_variant	26984	exon6			TTCCTTGGAACAG	AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.700delG	3.37:g.122978413delG	ENSP00000310521:p.Gly234fs	373.0	0.0		339.0	113.0	NM_012430	B2RE26|Q9Y682	Frame_Shift_Del	DEL	ENST00000309934.4	37	CCDS3021.1																																																																																			.		0.358	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430	
SEC24B	10427	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	4	110384263	110384263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr4:110384263C>T	ENST00000265175.5	+	2	395	c.340C>T	c.(340-342)Cag>Tag	p.Q114*	SEC24B_ENST00000399100.2_Nonsense_Mutation_p.Q114*|SEC24B_ENST00000504968.2_Nonsense_Mutation_p.Q145*	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	114					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACCAGGAGCACAGCAGTTGTA	0.493																																					p.Q114X		.											.	SEC24B	137	0			c.C340T						.						117.0	119.0	119.0					4																	110384263		2033	4195	6228	SO:0001587	stop_gained	10427	exon2			GGAGCACAGCAGT	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.340C>T	4.37:g.110384263C>T	ENSP00000265175:p.Gln114*	88.0	0.0		37.0	21.0	NM_006323	B7ZKM8|B7ZKN4|Q0VG08	Nonsense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209344	0.95069	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	.	.	.	5.26	5.26	0.73747	.	1.205850	0.05841	N	0.619316	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-1.3669	17.0668	0.86561	0.0:1.0:0.0:0.0	.	.	.	.	X	145;114;114	.	ENSP00000265175:Q114X	Q	+	1	0	SEC24B	110603712	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	3.403000	0.52615	2.464000	0.83262	0.467000	0.42956	CAG	.		0.493	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		
SGK2	10110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	42195738	42195738	+	Missense_Mutation	SNP	G	G	C			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr20:42195738G>C	ENST00000341458.4	+	2	466	c.247G>C	c.(247-249)Ggg>Cgg	p.G83R	SGK2_ENST00000423407.3_Missense_Mutation_p.G23R|SGK2_ENST00000373100.1_Missense_Mutation_p.G23R|SGK2_ENST00000373092.3_Missense_Mutation_p.G23R|SGK2_ENST00000426287.1_Missense_Mutation_p.G49R|SGK2_ENST00000373077.1_Missense_Mutation_p.G23R	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	83					intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.G83W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CATCAACCTGGGGCCTTCAGC	0.532																																					p.G83R		.											.	SGK2	990	1	Substitution - Missense(1)	lung(1)	c.G247C						.						106.0	106.0	106.0					20																	42195738		2203	4300	6503	SO:0001583	missense	10110	exon2			AACCTGGGGCCTT	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.247G>C	20.37:g.42195738G>C	ENSP00000340608:p.Gly83Arg	56.0	0.0		68.0	20.0	NM_016276	Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604612	0.87157	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.71579	-0.54;-0.54;-0.53;0.05;-0.54;-0.58;-0.54	4.59	4.59	0.56863	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.999;0.981;0.981	D;P;D	0.76071	0.987;0.878;0.921	T	0.77509	-0.2561	10	0.54805	T	0.06	.	15.697	0.77509	0.0:0.0:1.0:0.0	.	49;83;23	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	R	23;23;23;23;23;83;49	ENSP00000362192:G23R;ENSP00000362184:G23R;ENSP00000362168:G23R;ENSP00000396222:G23R;ENSP00000392795:G23R;ENSP00000340608:G83R;ENSP00000412214:G49R	ENSP00000340608:G83R	G	+	1	0	SGK2	41629152	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.044000	0.93805	2.474000	0.83562	0.609000	0.83330	GGG	.		0.532	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1		
SGSH	6448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	78196581	78196581	+	5'Flank	SNP	C	C	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr17:78196581C>T	ENST00000326317.6	-	0	0				SGSH_ENST00000570923.1_5'Flank|SLC26A11_ENST00000361193.3_Missense_Mutation_p.A121V|SLC26A11_ENST00000411502.3_Missense_Mutation_p.A121V|SLC26A11_ENST00000546047.2_Missense_Mutation_p.A121V|SGSH_ENST00000572208.1_5'Flank|SLC26A11_ENST00000571602.1_3'UTR|SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000572725.1_Missense_Mutation_p.A121V	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CATGAGCCCGCCTACGCTGTG	0.617																																					p.A121V		.											.	SLC26A11	90	0			c.C362T						.						176.0	150.0	159.0					17																	78196581		2203	4300	6503	SO:0001631	upstream_gene_variant	284129	exon4			AGCCCGCCTACGC	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78196581C>T	Exception_encountered	86.0	0.0		93.0	47.0	NM_173626	A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	c	10.67	1.416625	0.25552	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.94330	-3.4;-3.4;-3.4	4.69	4.69	0.59074	.	0.508626	0.21916	N	0.067228	D	0.87470	0.6185	N	0.25890	0.77	0.09310	N	1	B	0.13145	0.007	B	0.14023	0.01	T	0.75263	-0.3379	10	0.26408	T	0.33	-24.8582	12.2081	0.54363	0.0:0.9145:0.0:0.0855	.	121	Q86WA9	S2611_HUMAN	V	121	ENSP00000403998:A121V;ENSP00000440724:A121V;ENSP00000355384:A121V	ENSP00000355384:A121V	A	+	2	0	SLC26A11	75811176	0.558000	0.26554	0.188000	0.23233	0.937000	0.57800	0.467000	0.22035	2.183000	0.69458	0.455000	0.32223	GCC	.		0.617	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199	
SLC30A1	7779	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	211749034	211749047	+	Frame_Shift_Del	DEL	AAAACGTCTTTAAT	AAAACGTCTTTAAT	-	rs41283138		TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	AAAACGTCTTTAAT	AAAACGTCTTTAAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr1:211749034_211749047delAAAACGTCTTTAAT	ENST00000367001.4	-	2	1336_1349	c.1207_1220delATTAAAGACGTTTT	c.(1207-1221)attaaagacgtttttfs	p.IKDVF403fs		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	403					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		GTGATTATGAAAAACGTCTTTAATGGTTTTAGCC	0.416																																					p.403_407del		.											.	SLC30A1	93	0			c.1207_1220del						.																																			SO:0001589	frameshift_variant	7779	exon2			TTATGAAAAACGT	AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.1207_1220delATTAAAGACGTTTT	1.37:g.211749034_211749047delAAAACGTCTTTAAT	ENSP00000355968:p.Ile403fs	77.0	0.0		95.0	65.0	NM_021194	Q0VAK9|Q9BZF6	Frame_Shift_Del	DEL	ENST00000367001.4	37	CCDS1499.1																																																																																			.		0.416	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2		
SLC7A7	9056	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	23242904	23242904	+	Missense_Mutation	SNP	T	T	G			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr14:23242904T>G	ENST00000397532.3	-	10	1976	c.1451A>C	c.(1450-1452)cAg>cCg	p.Q484P	SLC7A7_ENST00000285850.7_Missense_Mutation_p.Q484P|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000555702.1_Missense_Mutation_p.Q484P|SLC7A7_ENST00000397528.4_Missense_Mutation_p.Q484P|SLC7A7_ENST00000554517.1_Missense_Mutation_p.Q218P|SLC7A7_ENST00000397529.2_Missense_Mutation_p.Q484P			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	484					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACACAGGACCTGGAGGTACCT	0.473																																					p.Q484P		.											.	SLC7A7	154	0			c.A1451C						.						112.0	98.0	103.0					14																	23242904		2203	4300	6503	SO:0001583	missense	9056	exon11			AGGACCTGGAGGT	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1451A>C	14.37:g.23242904T>G	ENSP00000380666:p.Gln484Pro	78.0	0.0		52.0	17.0	NM_001126105	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876801	0.72180	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	D;D;D;D;D;D	0.93366	-2.85;-2.85;-2.85;-2.85;-2.85;-3.21	5.52	5.52	0.82312	.	0.054265	0.85682	D	0.000000	D	0.96210	0.8764	M	0.76328	2.33	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.96618	0.9457	10	0.87932	D	0	.	13.6011	0.62020	0.0:0.0:0.0:1.0	.	484	Q9UM01	YLAT1_HUMAN	P	484;484;484;457;484;484;218	ENSP00000285850:Q484P;ENSP00000451881:Q484P;ENSP00000380666:Q484P;ENSP00000380663:Q484P;ENSP00000380662:Q484P;ENSP00000452083:Q218P	ENSP00000285850:Q484P	Q	-	2	0	SLC7A7	22312744	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.542000	0.60677	2.097000	0.63578	0.460000	0.39030	CAG	.		0.473	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3		
SLC9C1	285335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	111981884	111981884	+	Missense_Mutation	SNP	G	G	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr3:111981884G>A	ENST00000305815.5	-	10	1336	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R314C	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	362					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AATATCCAGCGCCAACTGAAC	0.368																																					p.R362C		.											.	.	.	0			c.C1084T						.						105.0	102.0	103.0					3																	111981884		2203	4300	6503	SO:0001583	missense	285335	exon10			TCCAGCGCCAACT	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1084C>T	3.37:g.111981884G>A	ENSP00000306627:p.Arg362Cys	206.0	0.0		198.0	69.0	NM_183061	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408688	0.62399	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.20598	2.06;2.39	5.78	4.89	0.63831	Cation/H+ exchanger (1);	0.000000	0.64402	D	0.000013	T	0.42630	0.1211	L	0.61218	1.895	0.46954	D	0.999267	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.34104	-0.9842	10	0.72032	D	0.01	-16.5632	12.1441	0.54014	0.0:0.0:0.8287:0.1713	.	314;362	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	C	362;314	ENSP00000306627:R362C;ENSP00000420688:R314C	ENSP00000306627:R362C	R	-	1	0	SLC9A10	113464574	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	4.968000	0.63728	1.409000	0.46915	0.543000	0.68304	CGC	.		0.368	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
SPAG1	6674	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	101237520	101237520	+	Missense_Mutation	SNP	C	C	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr8:101237520C>T	ENST00000388798.2	+	14	1999	c.1808C>T	c.(1807-1809)tCa>tTa	p.S603L	SPAG1_ENST00000523302.1_3'UTR|SPAG1_ENST00000251809.3_Missense_Mutation_p.S603L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	603					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GAGATGATCTCAAAACAAGCA	0.537																																					p.S603L		.											.	SPAG1	92	0			c.C1808T						.						51.0	48.0	49.0					8																	101237520		2203	4300	6503	SO:0001583	missense	6674	exon14			TGATCTCAAAACA	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.1808C>T	8.37:g.101237520C>T	ENSP00000373450:p.Ser603Leu	66.0	0.0		65.0	12.0	NM_003114	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860563	0.32884	.	.	ENSG00000104450	ENST00000251809;ENST00000388798	T;T	0.62105	0.05;0.05	5.17	3.38	0.38709	.	1.524830	0.03627	N	0.237311	T	0.55000	0.1893	L	0.38175	1.15	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.37337	-0.9710	10	0.32370	T	0.25	-0.0032	9.5565	0.39341	0.0:0.8314:0.0:0.1686	.	603	Q07617	SPAG1_HUMAN	L	603	ENSP00000251809:S603L;ENSP00000373450:S603L	ENSP00000251809:S603L	S	+	2	0	SPAG1	101306696	0.025000	0.19082	0.001000	0.08648	0.006000	0.05464	1.305000	0.33493	0.846000	0.35142	0.650000	0.86243	TCA	.		0.537	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218	
ST6GAL2	84620	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	107460245	107460245	+	Silent	SNP	G	G	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr2:107460245G>T	ENST00000409382.3	-	2	799	c.189C>A	c.(187-189)ggC>ggA	p.G63G	ST6GAL2_ENST00000409087.3_Silent_p.G63G|ST6GAL2_ENST00000361686.4_Silent_p.G63G|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	63					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.G63G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CATGTGCGGCGCCCATGATGG	0.716																																					p.G63G		.											.	ST6GAL2	191	1	Substitution - coding silent(1)	endometrium(1)	c.C189A						.						14.0	17.0	16.0					2																	107460245		2181	4274	6455	SO:0001819	synonymous_variant	84620	exon2			TGCGGCGCCCATG	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.189C>A	2.37:g.107460245G>T		32.0	0.0		40.0	16.0	NM_032528	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	CCDS2073.1																																																																																			.		0.716	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
ST7L	54879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	113098573	113098573	+	Missense_Mutation	SNP	G	G	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr1:113098573G>A	ENST00000358039.4	-	12	1617	c.1313C>T	c.(1312-1314)gCa>gTa	p.A438V	ST7L_ENST00000369669.1_Missense_Mutation_p.A255V|ST7L_ENST00000538187.1_Missense_Mutation_p.A382V|ST7L_ENST00000369666.1_Missense_Mutation_p.A421V|ST7L_ENST00000490067.1_Missense_Mutation_p.A421V|ST7L_ENST00000360743.4_Missense_Mutation_p.A438V|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369668.2_Missense_Mutation_p.A438V|ST7L_ENST00000544629.1_Missense_Mutation_p.A373V|ST7L_ENST00000543570.1_Intron|ST7L_ENST00000343210.7_Missense_Mutation_p.A438V	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	438					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAGGCAATTGCTTCACTATC	0.373																																					p.A438V		.											.	ST7L	90	0			c.C1313T						.						126.0	116.0	119.0					1																	113098573		2203	4300	6503	SO:0001583	missense	54879	exon12			GCAATTGCTTCAC	AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.1313C>T	1.37:g.113098573G>A	ENSP00000350734:p.Ala438Val	55.0	0.0		63.0	20.0	NM_138729	A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	ENST00000358039.4	37	CCDS848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.390251|5.390251	0.95988|0.95988	.|.	.|.	ENSG00000007341|ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000369673;ENST00000544629;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187|ENST00000418497	T;T;T;T;T;T;T;T;T|.	0.27104|.	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.79499|.	0.4456|.	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	0.998;0.998;0.999;1.0;1.0;1.0;1.0;1.0|.	T|.	0.80018|.	-0.1558|.	10|.	0.87932|.	D|.	0|.	-14.6353|-14.6353	19.1881|19.1881	0.93653|0.93653	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	382;373;373;438;421;421;438;438|.	B7Z7D4;B7Z3J2;F5H2P3;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4|.	.;.;.;.;.;.;.;ST7L_HUMAN|.	V|X	438;438;219;373;255;421;438;438;421;382|213	ENSP00000350734:A438V;ENSP00000353972:A438V;ENSP00000445499:A373V;ENSP00000358683:A255V;ENSP00000417140:A421V;ENSP00000358682:A438V;ENSP00000345312:A438V;ENSP00000358680:A421V;ENSP00000444021:A382V|.	ENSP00000345312:A438V|.	A|Q	-|-	2|1	0|0	ST7L|ST7L	112900096|112900096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	9.864000|9.864000	0.99589|0.99589	2.625000|2.625000	0.88918|0.88918	0.585000|0.585000	0.79938|0.79938	GCA|CAA	.		0.373	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3		
TMEM44	93109	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	194336377	194336377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr3:194336377delC	ENST00000392432.2	-	8	1179	c.974delG	c.(973-975)ggafs	p.G325fs	TMEM44_ENST00000347147.4_Frame_Shift_Del_p.G278fs|TMEM44_ENST00000273580.7_Frame_Shift_Del_p.G278fs|TMEM44_ENST00000473092.1_Frame_Shift_Del_p.G278fs|TMEM44_ENST00000381975.3_Frame_Shift_Del_p.G278fs	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	325						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTTGGCAAATCCTAAGGCCTG	0.488																																					p.G325fs		.											.	TMEM44	90	0			c.974delG						.						233.0	219.0	224.0					3																	194336377		2203	4300	6503	SO:0001589	frameshift_variant	93109	exon8			GCAAATCCTAAGG	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.974delG	3.37:g.194336377delC	ENSP00000376227:p.Gly325fs	167.0	0.0		120.0	45.0	NM_001166305	A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Frame_Shift_Del	DEL	ENST00000392432.2	37	CCDS54699.1																																																																																			.		0.488	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1	NM_138399	
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	rs28934571		TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr17:7577534C>A	ENST00000269305.4	-	7	936	c.747G>T	c.(745-747)agG>agT	p.R249S	TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R249S	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	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		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.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(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)	TGAGGATGGGCCTCCGGTTCA	0.572		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)																											p.R249S	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,mouth,carcinoma,0	TP53	70225	378	Substitution - Missense(348)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Substitution - coding silent(5)|Insertion - Frameshift(1)|Insertion - In frame(1)|Deletion - Frameshift(1)|Complex - compound substitution(1)	liver(240)|lung(44)|upper_aerodigestive_tract(12)|breast(12)|central_nervous_system(10)|stomach(7)|ovary(6)|prostate(6)|cervix(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(5)|biliary_tract(5)|urinary_tract(5)|bone(4)|endometrium(3)|oesophagus(3)|skin(2)|peritoneum(1)|kidney(1)|salivary_gland(1)|pancreas(1)	c.G747T						.						155.0	113.0	127.0					17																	7577534		2203	4300	6503	SO:0001583	missense	7157	exon7	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;	GATGGGCCTCCGG	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.747G>T	17.37:g.7577534C>A	ENSP00000269305:p.Arg249Ser	94.0	0.0		48.0	27.0	NM_000546	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	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344264	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29	4.62	-0.0929	0.13654	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	0.99792	0.9912	M	0.92367	3.3	0.50039	D	0.999848	D;D;D;D;D	0.89917	0.996;0.996;0.997;0.99;1.0	D;D;D;D;D	0.79108	0.968;0.966;0.981;0.955;0.992	D	0.98720	1.0708	10	0.72032	D	0.01	-3.0658	3.2479	0.06803	0.1392:0.5551:0.1362:0.1695	rs28934571	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	249;249;249;249;249;249;238;117	ENSP00000410739:R249S;ENSP00000352610:R249S;ENSP00000269305:R249S;ENSP00000398846:R249S;ENSP00000391127:R249S;ENSP00000391478:R249S;ENSP00000425104:R117S	ENSP00000269305:R249S	R	-	3	2	TP53	7518259	0.011000	0.17503	0.998000	0.56505	0.783000	0.44284	-1.379000	0.02554	0.253000	0.21552	0.462000	0.41574	AGG	C|1.000;|0.000		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TPO	7173	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	1440139	1440139	+	Silent	SNP	A	A	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr2:1440139A>T	ENST00000345913.4	+	5	556	c.465A>T	c.(463-465)acA>acT	p.T155T	TPO_ENST00000349624.3_Silent_p.T155T|TPO_ENST00000346956.3_Silent_p.T155T|TPO_ENST00000382269.3_Silent_p.T155T|TPO_ENST00000329066.4_Silent_p.T155T|TPO_ENST00000382201.3_Silent_p.T155T|TPO_ENST00000539820.1_Silent_p.T155T|TPO_ENST00000337415.3_Silent_p.T155T|TPO_ENST00000382198.1_Silent_p.T155T|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	155					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCCATCACAGGAGCTTGCA	0.448																																					p.T155T		.											.	TPO	332	0			c.A465T						.						130.0	125.0	127.0					2																	1440139		2203	4300	6503	SO:0001819	synonymous_variant	7173	exon5			CATCACAGGAGCT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.465A>T	2.37:g.1440139A>T		91.0	1.0		89.0	31.0	NM_175719	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	CCDS1643.1																																																																																			.		0.448	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
UGT2B28	54490	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	70160294	70160294	+	Missense_Mutation	SNP	C	C	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr4:70160294C>T	ENST00000335568.5	+	6	1359	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	453					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						ACATGATCAACCAGTAAAGCC	0.398																																					p.P453S		.											.	UGT2B28	91	0			c.C1357T						.						49.0	56.0	53.0					4																	70160294		2016	4228	6244	SO:0001583	missense	54490	exon6			GATCAACCAGTAA	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1357C>T	4.37:g.70160294C>T	ENSP00000334276:p.Pro453Ser	70.0	1.0		46.0	21.0	NM_053039	B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	11.71	1.719479	0.30503	.	.	ENSG00000135226	ENST00000335568	T	0.75821	-0.97	1.85	1.85	0.25348	.	0.000000	0.64402	U	0.000003	D	0.88024	0.6326	H	0.95539	3.685	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.88668	0.3193	10	0.87932	D	0	.	9.3109	0.37903	0.0:1.0:0.0:0.0	.	453	Q9BY64	UDB28_HUMAN	S	453	ENSP00000334276:P453S	ENSP00000334276:P453S	P	+	1	0	UGT2B28	70194883	0.996000	0.38824	0.016000	0.15963	0.013000	0.08279	6.652000	0.74377	1.023000	0.39654	0.184000	0.17185	CCA	.		0.398	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039	
USP48	84196	broad.mit.edu;bcgsc.ca	37	1	22084268	22084268	+	Missense_Mutation	SNP	C	C	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr1:22084268C>T	ENST00000308271.9	-	2	791	c.143G>A	c.(142-144)tGc>tAc	p.C48Y	USP48_ENST00000529637.1_Missense_Mutation_p.C48Y|USP48_ENST00000400301.1_Missense_Mutation_p.C48Y|USP48_ENST00000421625.2_Missense_Mutation_p.C48Y	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	48					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ATTTCCTTTGCAGTTTCGTCT	0.328																																					p.C48Y		.											.	USP48	659	0			c.G143A						.						85.0	78.0	80.0					1																	22084268		2203	4300	6503	SO:0001583	missense	84196	exon2			CCTTTGCAGTTTC	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.143G>A	1.37:g.22084268C>T	ENSP00000309262:p.Cys48Tyr	88.0	1.0		46.0	14.0	NM_001032730	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483995	0.84854	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625	T;T;T;T	0.08102	3.15;3.13;3.13;3.24	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.31918	0.0812	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.996;0.997;0.993;0.999;0.999;0.999	T	0.01004	-1.1484	10	0.72032	D	0.01	.	18.8507	0.92227	0.0:1.0:0.0:0.0	.	48;48;48;48;48;48	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	Y	48	ENSP00000383157:C48Y;ENSP00000309262:C48Y;ENSP00000431949:C48Y;ENSP00000406256:C48Y	ENSP00000309262:C48Y	C	-	2	0	USP48	21956855	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.343000	0.79319	2.689000	0.91719	0.655000	0.94253	TGC	.		0.328	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236	
WISP3	8838	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	112375575	112375575	+	Silent	SNP	C	C	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr6:112375575C>A	ENST00000368666.2	+	1	301	c.15C>A	c.(13-15)ctC>ctA	p.L5L	WISP3_ENST00000483439.1_3'UTR|WISP3_ENST00000361714.1_Silent_p.L23L|WISP3_ENST00000230529.5_Silent_p.L5L|WISP3_ENST00000604763.1_Silent_p.L5L	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	5					cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		AGGGGCTCCTCTTCTCCACTC	0.592																																					p.L23L		.											.	WISP3	90	0			c.C69A						.						167.0	150.0	155.0					6																	112375575		2203	4300	6503	SO:0001819	synonymous_variant	8838	exon1			GCTCCTCTTCTCC	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.15C>A	6.37:g.112375575C>A		62.0	0.0		75.0	13.0	NM_198239	Q3KR29|Q5H8W4|Q6UXH6	Silent	SNP	ENST00000368666.2	37	CCDS5098.1																																																																																			.		0.592	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880	
WDR27	253769	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	170033072	170033072	+	Missense_Mutation	SNP	G	G	A	rs370579184		TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr6:170033072G>A	ENST00000448612.1	-	21	2303	c.2194C>T	c.(2194-2196)Cgg>Tgg	p.R732W	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Missense_Mutation_p.R732W|WDR27_ENST00000423258.1_Missense_Mutation_p.R605W	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	702						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TGGACAGGCCGTGAGTGGGCT	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16641	0.0		0.0	False		,,,				2504	0.0				p.R732W		.											.	WDR27	69	0			c.C2194T						.	G	TRP/ARG,TRP/ARG	1,3877		0,1,1938	68.0	72.0	71.0		1813,2194	0.4	0.2	6		71	0,8274		0,0,4137	no	missense,missense	WDR27	NM_001202550.1,NM_182552.4	101,101	0,1,6075	AA,AG,GG		0.0,0.0258,0.0082	probably-damaging,probably-damaging	605/731,732/896	170033072	1,12151	1939	4137	6076	SO:0001583	missense	253769	exon21			CAGGCCGTGAGTG	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.2194C>T	6.37:g.170033072G>A	ENSP00000416289:p.Arg732Trp	51.0	1.0		54.0	13.0	NM_182552	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735363	0.48939	2.58E-4	0.0	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.40756	4.99;1.02;4.99	5.04	0.396	0.16309	.	0.000000	0.64402	D	0.000001	T	0.50017	0.1591	M	0.83223	2.63	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.976;0.989;0.995	T	0.54497	-0.8285	10	0.72032	D	0.01	-17.9121	7.7912	0.29121	0.0891:0.0:0.2858:0.6251	.	732;605;732	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	W	732;732;605	ENSP00000416289:R732W;ENSP00000330265:R732W;ENSP00000397869:R605W	ENSP00000330265:R732W	R	-	1	2	WDR27	169774997	0.961000	0.32948	0.177000	0.23020	0.593000	0.36681	1.600000	0.36762	0.114000	0.18032	0.650000	0.86243	CGG	.		0.468	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552	
ZNF195	7748	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	3380429	3380429	+	Missense_Mutation	SNP	C	C	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr11:3380429C>A	ENST00000399602.4	-	6	1935	c.1809G>T	c.(1807-1809)gaG>gaT	p.E603D	ZNF195_ENST00000343338.7_Missense_Mutation_p.E535D|ZNF195_ENST00000429541.2_Missense_Mutation_p.E535D|ZNF195_ENST00000354599.6_Missense_Mutation_p.E531D|ZNF195_ENST00000005082.9_Missense_Mutation_p.E580D|ZNF195_ENST00000526601.1_Missense_Mutation_p.E584D|ZNF195_ENST00000528796.1_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	603					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGTAGGGTTTCTCTCCAGTAT	0.378																																					p.E603D		.											.	ZNF195	90	0			c.G1809T						.						65.0	68.0	67.0					11																	3380429		2064	4227	6291	SO:0001583	missense	7748	exon6			GGGTTTCTCTCCA		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1809G>T	11.37:g.3380429C>A	ENSP00000382511:p.Glu603Asp	100.0	1.0		83.0	35.0	NM_001130520	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	c	13.24	2.178400	0.38511	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	1.27	1.27	0.21489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34978	0.0916	L	0.49256	1.55	0.23913	N	0.996487	B;P;P;P;P;P	0.45902	0.02;0.868;0.552;0.84;0.606;0.84	B;B;P;B;P;B	0.55087	0.232;0.319;0.656;0.213;0.768;0.213	T	0.12630	-1.0540	9	0.72032	D	0.01	.	7.9805	0.30181	0.0:1.0:0.0:0.0	.	584;462;580;535;603;531	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	D	531;603;535;535;580;584	ENSP00000346613:E531D;ENSP00000382511:E603D;ENSP00000344483:E535D;ENSP00000387998:E535D;ENSP00000005082:E580D;ENSP00000435828:E584D	ENSP00000005082:E580D	E	-	3	2	ZNF195	3337005	1.000000	0.71417	0.032000	0.17829	0.341000	0.28922	1.484000	0.35508	0.638000	0.30545	0.305000	0.20034	GAG	.		0.378	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2		
ZNF329	79673	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	58639664	58639664	+	Missense_Mutation	SNP	C	C	T			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr19:58639664C>T	ENST00000598312.1	-	4	1440	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	ZNF329_ENST00000358067.4_Missense_Mutation_p.E403K	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TTGCCACATTCTTTACATTCA	0.468																																					p.E403K		.											.	ZNF329	91	0			c.G1207A						.						79.0	71.0	73.0					19																	58639664		2203	4300	6503	SO:0001583	missense	79673	exon4			CACATTCTTTACA	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1207G>A	19.37:g.58639664C>T	ENSP00000470008:p.Glu403Lys	111.0	0.0		112.0	17.0	NM_024620	B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672738	0.47781	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.07327	3.2;3.2	4.31	4.31	0.51392	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39341	N	0.001388	T	0.16085	0.0387	L	0.43598	1.365	0.33806	D	0.627229	D	0.57571	0.98	P	0.53490	0.727	T	0.03957	-1.0989	10	0.56958	D	0.05	-17.1643	16.7502	0.85483	0.0:1.0:0.0:0.0	.	403	Q86UD4	ZN329_HUMAN	K	403	ENSP00000350773:E403K;ENSP00000439527:E403K	ENSP00000350773:E403K	E	-	1	0	ZNF329	63331476	0.000000	0.05858	0.970000	0.41538	0.862000	0.49288	0.485000	0.22324	2.691000	0.91804	0.655000	0.94253	GAA	.		0.468	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620	
ZNF462	58499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	109773122	109773122	+	Silent	SNP	G	G	A	rs147574890	byFrequency	TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr9:109773122G>A	ENST00000277225.5	+	13	7621	c.7332G>A	c.(7330-7332)aaG>aaA	p.K2444K	ZNF462_ENST00000542028.1_Silent_p.K401K|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Silent_p.K2504K|ZNF462_ENST00000441147.2_Silent_p.K1350K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2444					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATGACACCAAGCAGGTGAGCA	0.378													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17736	0.0		0.0	False		,,,				2504	0.0				p.K2444K		.											.	ZNF462	95	0			c.G7332A						.	G		7,4399	12.9+/-30.5	0,7,2196	62.0	59.0	60.0		7332	5.0	1.0	9	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous	ZNF462	NM_021224.4		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		2444/2507	109773122	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	58499	exon13			CACCAAGCAGGTG	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.7332G>A	9.37:g.109773122G>A		41.0	0.0		28.0	8.0	NM_021224	Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1																																																																																			G|0.999;A|0.001		0.378	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
ZNF469	84627	broad.mit.edu;mdanderson.org	37	16	88503345	88503345	+	Missense_Mutation	SNP	G	G	A			TCGA-ED-A7XP-01A-11D-A34Z-10	TCGA-ED-A7XP-10A-01D-A34Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1041e66f-f2c8-4391-a397-b067e8d51acd	dcbe4804-a5e8-4a45-bccb-c61bca357514	g.chr16:88503345G>A	ENST00000437464.1	+	2	9383	c.9383G>A	c.(9382-9384)cGg>cAg	p.R3128Q	ZNF469_ENST00000565624.1_Missense_Mutation_p.R3156Q	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	3128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						TTTGGCTCGCGGGAGCTGCTG	0.721																																					p.R3128Q		.											.	.	.	0			c.G9383A						.						2.0	3.0	3.0					16																	88503345		608	1417	2025	SO:0001583	missense	84627	exon2			GCTCGCGGGAGCT	AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.9383G>A	16.37:g.88503345G>A	ENSP00000402343:p.Arg3128Gln	20.0	0.0		11.0	3.0	NM_001127464		Missense_Mutation	SNP	ENST00000437464.1	37	CCDS45544.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045386	0.75846	.	.	ENSG00000225614	ENST00000437464	T	0.07021	3.23	4.98	4.98	0.66077	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.20047	0.0482	L	0.29908	0.895	0.34273	D	0.681264	D	0.89917	1.0	D	0.87578	0.998	T	0.14559	-1.0468	9	0.72032	D	0.01	.	17.2281	0.86977	0.0:0.0:1.0:0.0	.	3128	Q96JG9	ZN469_HUMAN	Q	3128	ENSP00000402343:R3128Q	ENSP00000402343:R3128Q	R	+	2	0	ZNF469	87030846	0.999000	0.42202	0.178000	0.23040	0.473000	0.32948	7.450000	0.80656	2.315000	0.78130	0.462000	0.41574	CGG	.		0.721	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NG_012236	
