#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
LDB1	8861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	103871263	103871263	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr10:103871263G>A	ENST00000425280.1	-	2	398	c.56C>T	c.(55-57)tCg>tTg	p.S19L	LDB1_ENST00000361198.5_5'UTR|LDB1_ENST00000490751.1_5'UTR	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	19					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CTCCTTCGGCGAGTACAGCTT	0.547																																																0													34.0	42.0	39.0					10																	103871263		692	1591	2283	SO:0001583	missense	8861			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.56C>T	10.37:g.103871263G>A	ENSP00000392466:p.Ser19Leu		B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	ENST00000425280.1	37	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806627	0.70682	.	.	ENSG00000198728	ENST00000425280	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	T	0.32793	0.0841	N	0.14661	0.345	0.53688	D	0.999979	P	0.43094	0.799	B	0.24974	0.057	T	0.41928	-0.9481	8	0.66056	D	0.02	-19.0681	18.165	0.89722	0.0:0.0:1.0:0.0	.	19	Q86U70	LDB1_HUMAN	L	19	.	ENSP00000392466:S19L	S	-	2	0	LDB1	103861253	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.274000	0.95731	2.575000	0.86900	0.561000	0.74099	TCG		0.547	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407		43	66	43	66
OOSP2	219990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	59812148	59812148	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:59812148T>C	ENST00000278855.2	+	3	433	c.248T>C	c.(247-249)gTt>gCt	p.V83A	PLAC1L_ENST00000532905.1_Missense_Mutation_p.V52A	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		83						extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TCCTAGGTAGTTTCTGAGGAA	0.398																																																0													94.0	85.0	88.0					11																	59812148		2201	4295	6496	SO:0001583	missense	219990																														ENST00000278855.2:c.248T>C	11.37:g.59812148T>C	ENSP00000278855:p.Val83Ala		E9PJA4|Q8N9U6	Missense_Mutation	SNP	ENST00000278855.2	37	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.296406	0.23650	.	.	ENSG00000149507	ENST00000278855;ENST00000532905	D;D	0.81908	-1.55;-1.55	2.74	2.74	0.32292	.	.	.	.	.	T	0.77491	0.4138	L	0.54323	1.7	0.09310	N	1	B	0.23185	0.081	B	0.20767	0.031	T	0.69866	-0.5029	9	0.72032	D	0.01	-1.6591	7.3313	0.26584	0.0:0.0:0.0:1.0	.	83	Q86WS3	PLACL_HUMAN	A	83;52	ENSP00000278855:V83A;ENSP00000433831:V52A	ENSP00000278855:V83A	V	+	2	0	PLAC1L	59568724	0.167000	0.22975	0.012000	0.15200	0.057000	0.15508	2.476000	0.45171	1.504000	0.48704	0.460000	0.39030	GTT		0.398	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			28	139	28	139
TMEM109	79073	hgsc.bcm.edu;broad.mit.edu	37	11	60687346	60687346	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:60687346G>C	ENST00000227525.3	+	2	584	c.181G>C	c.(181-183)Gtg>Ctg	p.V61L	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Missense_Mutation_p.V61L	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	61					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						AGGTCGATCTGTGCGAGGGAC	0.542																																																0													127.0	117.0	121.0					11																	60687346		2203	4299	6502	SO:0001583	missense	79073				CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.181G>C	11.37:g.60687346G>C	ENSP00000227525:p.Val61Leu			Missense_Mutation	SNP	ENST00000227525.3	37	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	G	2.276	-0.365892	0.05069	.	.	ENSG00000110108	ENST00000227525;ENST00000446886;ENST00000536171	.	.	.	5.34	-1.98	0.07480	.	1.084920	0.07213	N	0.859576	T	0.22085	0.0532	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23084	-1.0198	9	0.18276	T	0.48	-28.2001	5.4718	0.16674	0.1647:0.5571:0.1757:0.1026	.	61	Q9BVC6	TM109_HUMAN	L	61	.	ENSP00000227525:V61L	V	+	1	0	TMEM109	60443922	0.000000	0.05858	0.016000	0.15963	0.066000	0.16364	-0.922000	0.04004	-0.301000	0.08882	0.563000	0.77884	GTG		0.542	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		15	266	15	266
ZW10	9183	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	113628513	113628513	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:113628513T>C	ENST00000200135.3	-	7	940	c.796A>G	c.(796-798)Ata>Gta	p.I266V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	266	Interaction with RINT1.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TGGCTTTCTATCACAGCATGA	0.378																																																0													80.0	82.0	82.0					11																	113628513		2201	4296	6497	SO:0001583	missense	9183			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.796A>G	11.37:g.113628513T>C	ENSP00000200135:p.Ile266Val		A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.892290	0.00522	.	.	ENSG00000086827	ENST00000200135	T	0.36157	1.27	5.47	-1.02	0.10135	.	0.425883	0.28527	N	0.015022	T	0.09024	0.0223	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23190	-1.0195	10	0.14252	T	0.57	-1.9234	2.5907	0.04841	0.1192:0.345:0.1229:0.413	.	266	O43264	ZW10_HUMAN	V	266	ENSP00000200135:I266V	ENSP00000200135:I266V	I	-	1	0	ZW10	113133723	0.000000	0.05858	0.836000	0.33094	0.200000	0.23975	-0.562000	0.05950	-0.193000	0.10415	-0.256000	0.11100	ATA		0.378	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		16	148	16	148
STAB2	55576	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	104049284	104049284	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104049284C>T	ENST00000388887.2	+	15	1863	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGGACCATACACCATTTTTG	0.423																																																0													173.0	148.0	157.0					12																	104049284		2203	4300	6503	SO:0001819	synonymous_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1659C>T	12.37:g.104049284C>T				Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																				0.423	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			60	56	60	56
TDG	6996	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	104374683	104374683	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104374683C>T	ENST00000392872.3	+	4	655	c.421C>T	c.(421-423)Ccg>Tcg	p.P141S	TDG_ENST00000542036.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.P137S|TDG_ENST00000544861.1_5'UTR	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	141					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TGGCATAAACCCGGGACTAAT	0.363								Base excision repair (BER), DNA glycosylases																																								0													151.0	148.0	149.0					12																	104374683		2203	4300	6503	SO:0001583	missense	6996			U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.421C>T	12.37:g.104374683C>T	ENSP00000376611:p.Pro141Ser		Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546628	0.86022	.	.	ENSG00000139372	ENST00000392872;ENST00000436021;ENST00000266775;ENST00000537100	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	4.56	4.56	0.56223	Uracil-DNA glycosylase-like (3);	0.000000	0.85682	D	0.000000	D	0.94955	0.8368	H	0.95917	3.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.96607	0.9449	10	0.66056	D	0.02	-15.0002	17.6885	0.88262	0.0:1.0:0.0:0.0	.	141;141	B2R848;Q13569	.;TDG_HUMAN	S	141;116;137;141	ENSP00000376611:P141S;ENSP00000390167:P116S;ENSP00000266775:P137S;ENSP00000439825:P141S	ENSP00000266775:P137S	P	+	1	0	TDG	102898813	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	7.423000	0.80229	2.250000	0.74265	0.557000	0.71058	CCG		0.363	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			28	246	28	246
HS3ST4	9951	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	26147367	26147367	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:26147367A>T	ENST00000331351.5	+	2	1561	c.1169A>T	c.(1168-1170)aAa>aTa	p.K390I	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	390					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TATTTCAACAAAACCAAGGGG	0.517																																																0													56.0	54.0	55.0					16																	26147367		1568	3582	5150	SO:0001583	missense	9951			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.1169A>T	16.37:g.26147367A>T	ENSP00000330606:p.Lys390Ile		Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.530739	0.85706	.	.	ENSG00000182601	ENST00000331351	T	0.57752	0.38	5.56	5.56	0.83823	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000001	T	0.71693	0.3370	M	0.80982	2.52	0.58432	D	0.999992	P	0.49307	0.922	P	0.61132	0.884	T	0.75712	-0.3222	10	0.66056	D	0.02	.	14.8801	0.70525	1.0:0.0:0.0:0.0	.	390	Q9Y661	HS3S4_HUMAN	I	390	ENSP00000330606:K390I	ENSP00000330606:K390I	K	+	2	0	HS3ST4	26054868	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.498000	0.81546	2.102000	0.63906	0.533000	0.62120	AAA		0.517	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		21	86	21	86
APOBR	55911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	28507468	28507468	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:28507468G>A	ENST00000431282.1	+	3	1089	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E	APOBR_ENST00000328423.5_Missense_Mutation_p.G360E|CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.G369E			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	360	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)	p.G360E(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCTCAGGAGGGGACGAGGCC	0.657																																																1	Substitution - Missense(1)	skin(1)											18.0	21.0	20.0					16																	28507468		1968	4120	6088	SO:0001583	missense	55911			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1079G>A	16.37:g.28507468G>A	ENSP00000416094:p.Gly360Glu		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37		.	.	.	.	.	.	.	.	.	.	G	0.325	-0.959425	0.02267	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.59502	0.26;0.26	4.59	-6.8	0.01709	.	.	.	.	.	T	0.23846	0.0577	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37619	-0.9698	9	0.02654	T	1	0.0909	0.7543	0.00996	0.3637:0.2788:0.1446:0.2128	.	360	Q9NS13	.	E	360	ENSP00000327669:G360E;ENSP00000416094:G360E	ENSP00000327669:G360E	G	+	2	0	APOBR	28414969	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.048000	0.11944	-0.650000	0.05423	-0.373000	0.07131	GGG		0.657	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		16	13	16	13
CDH19	28513	hgsc.bcm.edu;broad.mit.edu	37	18	64172539	64172539	+	Splice_Site	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr18:64172539C>T	ENST00000540086.1	-	10	1705	c.1459G>A	c.(1459-1461)Ggt>Agt	p.G487S	CDH19_ENST00000262150.2_Splice_Site_p.G610E	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	2500	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AAAAATAAACCCTGATGAAGA	0.303																																																0													35.0	42.0	40.0					18																	64172539		2182	4169	6351	SO:0001630	splice_region_variant	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1459-1G>A	18.37:g.64172539C>T			O15098	Splice_Site	SNP	ENST00000540086.1	37	CCDS59325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.57|10.57	1.388394|1.388394	0.25118|0.25118	.|.	.|.	ENSG00000071991|ENSG00000071991	ENST00000262150|ENST00000540086	T|T	0.57107|0.53640	0.42|0.61	5.19|5.19	4.19|4.19	0.49359|0.49359	.|.	0.397846|0.397846	0.24975|0.24975	N|N	0.034118|0.034118	T|T	0.39655|0.39655	0.1086|0.1086	L|L	0.47716|0.47716	1.5|1.5	0.28793|0.28793	N|N	0.899185|0.899185	P|B	0.51351|0.21520	0.944|0.057	P|B	0.47346|0.19391	0.544|0.025	T|T	0.28170|0.28170	-1.0052|-1.0052	10|10	0.87932|0.39692	D|T	0|0.17	.|.	10.8933|10.8933	0.47008|0.47008	0.408:0.592:0.0:0.0|0.408:0.592:0.0:0.0	.|.	610|487	Q9H159|F5H1K0	CAD19_HUMAN|.	E|S	610|487	ENSP00000262150:G610E|ENSP00000439593:G487S	ENSP00000262150:G610E|ENSP00000439593:G487S	G|G	-|-	2|1	0|0	CDH19|CDH19	62323519|62323519	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.777000|0.777000	0.43975|0.43975	4.722000|4.722000	0.61958|0.61958	2.569000|2.569000	0.86673|0.86673	0.655000|0.655000	0.94253|0.94253	GGG|GGT		0.303	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153	Missense_Mutation	10	173	10	173
DOHH	83475	hgsc.bcm.edu;broad.mit.edu	37	19	3492382	3492382	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:3492382C>T	ENST00000427575.1	-	4	918	c.467G>A	c.(466-468)cGt>cAt	p.R156H	DOHH_ENST00000250937.3_Missense_Mutation_p.R156H	NM_001145165.1	NP_001138637.1			deoxyhypusine hydroxylase/monooxygenase											central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCACGTCACGCTCCTCAGC	0.746																																																0													3.0	4.0	3.0					19																	3492382		1788	3638	5426	SO:0001583	missense	83475			BC002817	CCDS12108.1	19p13.3	2008-02-05	2006-05-22	2006-05-22		ENSG00000129932			28662	protein-coding gene	gene with protein product		611262	"""HEAT-like (PBS lyase) repeat containing 1"""	HLRC1		16371467, 16533814	Standard	NM_031304		Approved	MGC4293	uc002lxs.3	Q9BU89		ENST00000427575.1:c.467G>A	19.37:g.3492382C>T	ENSP00000398882:p.Arg156His			Missense_Mutation	SNP	ENST00000427575.1	37	CCDS12108.1	.	.	.	.	.	.	.	.	.	.	C	8.487	0.861158	0.17178	.	.	ENSG00000129932	ENST00000427575;ENST00000250937	.	.	.	4.26	-1.43	0.08884	Armadillo-like helical (1);Armadillo-type fold (1);	0.710938	0.12413	N	0.471087	T	0.32645	0.0836	L	0.54323	1.7	0.09310	N	1	B	0.31209	0.313	B	0.30029	0.11	T	0.22591	-1.0212	9	0.42905	T	0.14	-2.2304	6.8781	0.24158	0.0:0.3809:0.0:0.6191	.	156	Q9BU89	DOHH_HUMAN	H	156	.	ENSP00000250937:R156H	R	-	2	0	DOHH	3443382	0.002000	0.14202	0.014000	0.15608	0.143000	0.21401	-0.057000	0.11768	-0.083000	0.12618	0.491000	0.48974	CGT		0.746	DOHH-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452932.1	NM_031304		3	3	3	3
C3	718	hgsc.bcm.edu;broad.mit.edu	37	19	6697496	6697496	+	Silent	SNP	G	G	A	rs140780068		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:6697496G>A	ENST00000245907.6	-	21	2747	c.2655C>T	c.(2653-2655)acC>acT	p.T885T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	885					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GGATGGTTACGGTCTGCTGGT	0.587																																																0													120.0	94.0	102.0					19																	6697496		2203	4300	6503	SO:0001819	synonymous_variant	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2655C>T	19.37:g.6697496G>A			A7E236	Silent	SNP	ENST00000245907.6	37	CCDS32883.1																																																																																				0.587	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		9	128	9	128
PLD3	23646	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	40883897	40883897	+	Silent	SNP	C	C	G	rs199717679		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:40883897C>G	ENST00000409587.1	+	13	1687	c.1290C>G	c.(1288-1290)acC>acG	p.T430T	PLD3_ENST00000356508.5_Silent_p.T430T|PLD3_ENST00000409281.1_Silent_p.T430T|PLD3_ENST00000409419.1_Silent_p.T430T|PLD3_ENST00000409735.4_Silent_p.T430T			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	430	PLD phosphodiesterase 2. {ECO:0000255|PROSITE-ProRule:PRU00153}.				cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CTCTAGGAACCTCCAACTGGT	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15753	0.0		0.0	False		,,,				2504	0.0															0													49.0	47.0	48.0					19																	40883897		2203	4300	6503	SO:0001819	synonymous_variant	23646			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1290C>G	19.37:g.40883897C>G			Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	37	CCDS33027.1																																																																																				0.647	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		23	147	23	147
HCN3	57657	hgsc.bcm.edu;broad.mit.edu	37	1	155257756	155257756	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:155257756G>A	ENST00000368358.3	+	8	1835	c.1827G>A	c.(1825-1827)gcG>gcA	p.A609A	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	609					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.A609A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTACATGCGCCCCTTCAGG	0.627																																																1	Substitution - coding silent(1)	lung(1)											61.0	58.0	59.0					1																	155257756		2203	4300	6503	SO:0001819	synonymous_variant	57657			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1827G>A	1.37:g.155257756G>A			D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	CCDS1108.1																																																																																				0.627	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		9	114	9	114
OR1C1	26188	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	247920937	247920937	+	Missense_Mutation	SNP	C	C	T	rs373256453		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:247920937C>T	ENST00000408896.2	-	1	1045	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	258					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGAAATAGACGGCGATGGCT	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		20161	0.001		0.0	False		,,,				2504	0.0															0								C	ILE/VAL	0,4084		0,0,2042	71.0	70.0	70.0		772	3.2	1.0	1		70	1,8419		0,1,4209	no	missense	OR1C1	NM_012353.2	29	0,1,6251	TT,TC,CC		0.0119,0.0,0.0080	possibly-damaging	258/315	247920937	1,12503	2042	4210	6252	SO:0001583	missense	26188			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.772G>A	1.37:g.247920937C>T	ENSP00000386138:p.Val258Ile		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741331	0.30865	0.0	1.19E-4	ENSG00000221888	ENST00000408896	T	0.00091	8.74	3.22	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.32530	0.975	0.09310	N	1	P	0.45126	0.851	P	0.47573	0.55	T	0.49995	-0.8879	9	0.66056	D	0.02	.	5.9827	0.19415	0.0:0.691:0.1975:0.1115	.	258	Q15619	OR1C1_HUMAN	I	258	ENSP00000386138:V258I	ENSP00000386138:V258I	V	-	1	0	OR1C1	245987560	0.000000	0.05858	0.986000	0.45419	0.279000	0.26890	-0.836000	0.04382	1.798000	0.52647	0.591000	0.81541	GTC		0.512	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			54	45	54	45
MICALL1	85377	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	38323471	38323471	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr22:38323471C>T	ENST00000215957.6	+	9	1645	c.1519C>T	c.(1519-1521)Cca>Tca	p.P507S	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	507	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CACACCATCGCCAGCGCTCAG	0.677																																																0													38.0	36.0	37.0					22																	38323471		2203	4300	6503	SO:0001583	missense	85377			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1519C>T	22.37:g.38323471C>T	ENSP00000215957:p.Pro507Ser		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	CCDS13961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.61|16.61	3.171917|3.171917	0.57584|0.57584	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000454685|ENST00000215957	.|T	.|0.56941	.|0.43	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.236569	.|0.30302	.|N	.|0.009937	T|T	0.72503|0.72503	0.3468|0.3468	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.75379|0.75379	-0.3338|-0.3338	5|10	.|0.56958	.|D	.|0.05	.|.	18.171|18.171	0.89745|0.89745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|507	.|Q8N3F8	.|MILK1_HUMAN	V|S	84|507	.|ENSP00000215957:P507S	.|ENSP00000215957:P507S	A|P	+|+	2|1	0|0	MICALL1|MICALL1	36653417|36653417	0.997000|0.997000	0.39634|0.39634	0.991000|0.991000	0.47740|0.47740	0.085000|0.085000	0.17905|0.17905	5.650000|5.650000	0.67944|0.67944	2.251000|2.251000	0.74343|0.74343	0.555000|0.555000	0.69702|0.69702	GCC|CCA		0.677	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		44	48	44	48
CLIP4	79745	hgsc.bcm.edu;broad.mit.edu	37	2	29356592	29356592	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:29356592C>T	ENST00000320081.5	+	5	694	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	CLIP4_ENST00000404424.1_Missense_Mutation_p.R147C|CLIP4_ENST00000401617.2_Missense_Mutation_p.R40C|CLIP4_ENST00000401605.1_Missense_Mutation_p.R147C	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	147								p.R147C(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTTGCGGAGTCGCTGGACAAA	0.368																																																1	Substitution - Missense(1)	large_intestine(1)											126.0	118.0	121.0					2																	29356592		2203	4300	6503	SO:0001583	missense	79745			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.439C>T	2.37:g.29356592C>T	ENSP00000327009:p.Arg147Cys		A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909199	0.92107	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000449202;ENST00000438819;ENST00000530644	T;T;T;T;T;T	0.53857	0.6;0.62;0.6;0.6;0.6;0.6	5.55	5.55	0.83447	Ankyrin repeat-containing domain (4);	0.107305	0.64402	D	0.000003	T	0.64875	0.2638	L	0.38649	1.16	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.65874	0.911;0.939	T	0.67169	-0.5738	10	0.87932	D	0	.	19.5055	0.95113	0.0:1.0:0.0:0.0	.	147;147	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	C	147;40;147;147;147;148;147;40;129	ENSP00000384242:R147C;ENSP00000385148:R40C;ENSP00000385594:R147C;ENSP00000327009:R147C;ENSP00000393354:R147C;ENSP00000392296:R40C	ENSP00000327009:R147C	R	+	1	0	CLIP4	29210096	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.764000	0.85297	2.604000	0.88044	0.650000	0.86243	CGC		0.368	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		8	127	8	127
CAPN13	92291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	30966407	30966407	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:30966407C>T	ENST00000295055.8	-	13	1463	c.1287G>A	c.(1285-1287)tcG>tcA	p.S429S	CAPN13_ENST00000534090.2_Silent_p.S429S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	429					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGTTTCTGAACGAGGAAAAAA	0.473																																																0													147.0	139.0	142.0					2																	30966407		1847	4088	5935	SO:0001819	synonymous_variant	92291				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1287G>A	2.37:g.30966407C>T			Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	37	CCDS46252.1																																																																																				0.473	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		104	138	104	138
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			50	103	50	103
GRM7	2917	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	7188209	7188209	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:7188209G>A	ENST00000357716.4	+	2	864	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GRM7_ENST00000402647.2_Missense_Mutation_p.R197H|GRM7_ENST00000486284.1_Missense_Mutation_p.R197H|GRM7_ENST00000403881.1_Missense_Mutation_p.R197H|GRM7_ENST00000389336.4_Missense_Mutation_p.R197H	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	197					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TTCTTCTCTCGCGTGGTGCCA	0.522																																																0													129.0	115.0	119.0					3																	7188209		2203	4300	6503	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.590G>A	3.37:g.7188209G>A	ENSP00000350348:p.Arg197His		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508291	0.85282	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82	5.87	5.87	0.94306	Extracellular ligand-binding receptor (1);	0.123598	0.53938	D	0.000052	D	0.97145	0.9067	H	0.96269	3.795	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.995;0.999	D	0.97669	1.0165	10	0.87932	D	0	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	197;197;197	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	H	197	ENSP00000350348:R197H;ENSP00000417536:R197H;ENSP00000373987:R197H;ENSP00000385664:R197H;ENSP00000384585:R197H	ENSP00000350348:R197H	R	+	2	0	GRM7	7163209	1.000000	0.71417	0.307000	0.25127	0.308000	0.27856	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGC		0.522	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		39	191	39	191
KLHL18	23276	hgsc.bcm.edu;broad.mit.edu	37	3	47361235	47361235	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:47361235C>T	ENST00000232766.5	+	2	242	c.222C>T	c.(220-222)tgC>tgT	p.C74C	KLHL18_ENST00000455924.2_Intron	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	74	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TGATGGAGTGCAAGCAGGATG	0.493																																																0													243.0	205.0	218.0					3																	47361235		2203	4300	6503	SO:0001819	synonymous_variant	23276			AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.222C>T	3.37:g.47361235C>T			A8K612|Q7Z3E8|Q8N125	Silent	SNP	ENST00000232766.5	37	CCDS33749.1																																																																																				0.493	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		16	296	16	296
GPR116	221395	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	46826878	46826878	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:46826878C>T	ENST00000283296.7	-	17	3050	c.2762G>A	c.(2761-2763)aGc>aAc	p.S921N	GPR116_ENST00000545669.1_Missense_Mutation_p.S350N|GPR116_ENST00000265417.7_Missense_Mutation_p.S921N|GPR116_ENST00000456426.2_Missense_Mutation_p.S779N|GPR116_ENST00000362015.4_Missense_Mutation_p.S921N	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	921					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CATCACTAAGCTCTCTGCAAA	0.448																																					NSCLC(59;410 1274 8751 36715 50546)											0													122.0	111.0	115.0					6																	46826878		2203	4300	6503	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2762G>A	6.37:g.46826878C>T	ENSP00000283296:p.Ser921Asn		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483104	0.26598	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.32	4.45	0.53987	.	0.247626	0.36002	N	0.002854	T	0.54159	0.1841	L	0.60455	1.87	0.37696	D	0.924049	P;P;D;P;D	0.57899	0.911;0.563;0.981;0.928;0.981	P;B;P;P;P	0.58454	0.466;0.334;0.723;0.839;0.723	T	0.61212	-0.7108	10	0.59425	D	0.04	-17.7973	14.1221	0.65195	0.0:0.9274:0.0:0.0726	.	350;476;921;779;921	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	N	921;921;921;779;292;921;350	ENSP00000283296:S921N;ENSP00000354563:S921N;ENSP00000412866:S779N;ENSP00000265417:S921N;ENSP00000441581:S350N	ENSP00000265417:S921N	S	-	2	0	GPR116	46934837	0.814000	0.29104	0.689000	0.30133	0.033000	0.12548	3.741000	0.55090	1.239000	0.43787	-0.300000	0.09419	AGC		0.448	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		49	215	49	215
MCM9	254394	hgsc.bcm.edu;broad.mit.edu	37	6	119245149	119245149	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:119245149A>G	ENST00000316316.6	-	3	734	c.448T>C	c.(448-450)Tgc>Cgc	p.C150R	MCM9_ENST00000316068.3_Missense_Mutation_p.C150R	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	150					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ACATGCTTGCATTTGTTACAC	0.458																																																0													243.0	234.0	237.0					6																	119245149		2203	4300	6503	SO:0001583	missense	254394			BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.448T>C	6.37:g.119245149A>G	ENSP00000314505:p.Cys150Arg		B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.021406	0.75275	.	.	ENSG00000111877	ENST00000316316;ENST00000316068;ENST00000425154	T;T;T	0.21543	2.0;2.0;2.0	5.78	5.78	0.91487	.	.	.	.	.	T	0.46833	0.1413	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58047	-0.7705	9	0.87932	D	0	.	16.1146	0.81295	1.0:0.0:0.0:0.0	.	150	Q9NXL9-2	.	R	150	ENSP00000314505:C150R;ENSP00000312870:C150R;ENSP00000394776:C150R	ENSP00000312870:C150R	C	-	1	0	MCM9	119286848	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	8.962000	0.93254	2.200000	0.70718	0.460000	0.39030	TGC		0.458	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		27	369	27	369
SCRN1	9805	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	29963705	29963705	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:29963705G>A	ENST00000426154.1	-	8	1289	c.1113C>T	c.(1111-1113)acC>acT	p.T371T	SCRN1_ENST00000416113.2_Silent_p.T197T|SCRN1_ENST00000242059.5_Silent_p.T371T|SCRN1_ENST00000434476.2_Silent_p.T391T|SCRN1_ENST00000425819.2_Silent_p.T303T|SCRN1_ENST00000409497.1_Silent_p.T371T	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	371					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GCTCCAGCATGGTGCTCCTCA	0.557																																																0													79.0	72.0	74.0					7																	29963705		2203	4300	6503	SO:0001819	synonymous_variant	9805			D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.1113C>T	7.37:g.29963705G>A			A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Silent	SNP	ENST00000426154.1	37	CCDS5422.1																																																																																				0.557	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		18	158	18	158
RNF133	168433	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	122338205	122338205	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:122338205G>A	ENST00000340112.2	-	1	1005	c.768C>T	c.(766-768)tgC>tgT	p.C256C	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	256					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AGCAAATTACGCAGCTATCCC	0.398																																					Colon(198;1778 2057 7449 19869 45985)											0													167.0	156.0	160.0					7																	122338205		2203	4300	6503	SO:0001819	synonymous_variant	168433			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.768C>T	7.37:g.122338205G>A			A4D0W2|Q8N7G7	Silent	SNP	ENST00000340112.2	37	CCDS5784.1																																																																																				0.398	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		138	393	138	393
CEP41	95681	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	130038826	130038826	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:130038826C>T	ENST00000223208.5	-	11	1298	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	CEP41_ENST00000343969.5_Missense_Mutation_p.R271Q|CEP41_ENST00000541543.1_Missense_Mutation_p.R255Q	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	343					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											CTGAGCGCTTCGGGCACCAGG	0.577																																																0													106.0	121.0	116.0					7																	130038826		2203	4300	6503	SO:0001583	missense	95681			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.1028G>A	7.37:g.130038826C>T	ENSP00000223208:p.Arg343Gln		A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	5.331	0.246316	0.10130	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969	D;D;D	0.90385	-2.66;-2.17;-2.5	5.63	4.74	0.60224	.	0.192970	0.41396	D	0.000884	D	0.89842	0.6832	M	0.69823	2.125	0.09310	N	1	B;B;D	0.58268	0.007;0.429;0.982	B;B;B	0.44108	0.001;0.062;0.441	D	0.84040	0.0364	10	0.46703	T	0.11	-6.1853	12.9098	0.58173	0.0:0.8015:0.1985:0.0	.	255;271;343	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	Q	343;255;271	ENSP00000223208:R343Q;ENSP00000445888:R255Q;ENSP00000342738:R271Q	ENSP00000223208:R343Q	R	-	2	0	TSGA14	129826062	0.279000	0.24239	0.048000	0.18961	0.014000	0.08584	2.338000	0.43957	1.507000	0.48752	0.655000	0.94253	CGA		0.577	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		46	490	46	490
FAM154A	158297	hgsc.bcm.edu;broad.mit.edu	37	9	18928507	18928507	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:18928507C>T	ENST00000380534.4	-	4	1247	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.R131Q	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	323										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AAGTGCAGGTCGGCAGGACTG	0.562																																																0													80.0	72.0	75.0					9																	18928507		2203	4300	6503	SO:0001583	missense	158297			BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.968G>A	9.37:g.18928507C>T	ENSP00000369907:p.Arg323Gln		Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133533	0.56828	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.28255	2.51;1.62	5.09	3.26	0.37387	.	0.164198	0.29444	N	0.012122	T	0.49150	0.1540	M	0.79475	2.455	0.28768	N	0.900503	D	0.89917	1.0	D	0.85130	0.997	T	0.45440	-0.9261	10	0.59425	D	0.04	-4.3564	3.8762	0.09058	0.168:0.5718:0.0:0.2602	.	323	Q8IYX7	F154A_HUMAN	Q	323;131	ENSP00000369907:R323Q;ENSP00000438823:R131Q	ENSP00000369907:R323Q	R	-	2	0	FAM154A	18918507	0.678000	0.27586	0.979000	0.43373	0.587000	0.36485	1.342000	0.33919	0.732000	0.32470	0.650000	0.86243	CGA		0.562	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		10	154	10	154
SPATA31E1	286234	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	90501762	90501762	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:90501762G>A	ENST00000325643.5	+	4	2426	c.2360G>A	c.(2359-2361)cGc>cAc	p.R787H		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	787					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTGTGCGTCGCTCCTGGCTC	0.577																																																0													88.0	92.0	91.0					9																	90501762		2203	4300	6503	SO:0001583	missense	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2360G>A	9.37:g.90501762G>A	ENSP00000322640:p.Arg787His		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	3.946	-0.013274	0.07727	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.08458	3.09	2.43	-4.86	0.03132	.	2.119030	0.02517	N	0.092089	T	0.13970	0.0338	L	0.31578	0.945	0.09310	N	1	P;D	0.89917	0.777;1.0	B;P	0.60886	0.1;0.88	T	0.38001	-0.9681	10	0.66056	D	0.02	.	6.8571	0.24046	0.3438:0.0:0.5273:0.1289	.	787;439	Q6ZUB1;Q8NA33	CI079_HUMAN;.	H	787;439	ENSP00000322640:R787H	ENSP00000322640:R787H	R	+	2	0	C9orf79	89691582	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.817000	0.04472	-2.766000	0.00367	-2.217000	0.00297	CGC		0.577	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		27	203	27	203
ABCA2	20	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	139912486	139912486	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:139912486C>T	ENST00000371605.3	-	14	2179	c.2032G>A	c.(2032-2034)Gat>Aat	p.D678N	ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Missense_Mutation_p.D679N|ABCA2_ENST00000265662.5_Missense_Mutation_p.D679N			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	678					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCCACCACATCGTGCCCCACA	0.662																																																0													39.0	44.0	42.0					9																	139912486		2080	4210	6290	SO:0001583	missense	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2032G>A	9.37:g.139912486C>T	ENSP00000360666:p.Asp678Asn		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37		.	.	.	.	.	.	.	.	.	.	c	13.37	2.218092	0.39201	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.95307	-3.67;-3.67;-3.67	3.22	3.22	0.36961	.	0.000000	0.64402	U	0.000001	D	0.93494	0.7924	L	0.36672	1.1	0.58432	D	0.999996	D;D	0.76494	0.999;0.997	P;P	0.56434	0.798;0.74	D	0.91678	0.5356	10	0.25106	T	0.35	.	14.5887	0.68347	0.0:1.0:0.0:0.0	.	678;709	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	N	679;678;709;679	ENSP00000265662:D679N;ENSP00000360666:D678N;ENSP00000344155:D679N	ENSP00000265662:D679N	D	-	1	0	ABCA2	139032307	1.000000	0.71417	0.981000	0.43875	0.158000	0.22134	7.314000	0.78988	1.639000	0.50556	0.306000	0.20318	GAT		0.662	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		11	50	11	50
NDOR1	27158	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	140110623	140110623	+	Silent	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:140110623A>G	ENST00000344894.5	+	13	1715	c.1632A>G	c.(1630-1632)gcA>gcG	p.A544A	NDOR1_ENST00000371521.4_Silent_p.A553A|NDOR1_ENST00000427047.2_Intron|NDOR1_ENST00000458322.2_Silent_p.A537A	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCAGGGTGCATACTTCTACC	0.642																																																0													51.0	52.0	51.0					9																	140110623		2203	4300	6503	SO:0001819	synonymous_variant	27158			BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1632A>G	9.37:g.140110623A>G				Silent	SNP	ENST00000344894.5	37	CCDS7036.1																																																																																				0.642	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		20	141	20	141
LCLAT1	253558	broad.mit.edu;ucsc.edu	37	2	30863465	30863465	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:30863465A>G	ENST00000309052.4	+	7	1434	c.1225A>G	c.(1225-1227)Aat>Gat	p.N409D	LCLAT1_ENST00000379509.3_Missense_Mutation_p.N371D|LCLAT1_ENST00000540623.1_Missense_Mutation_p.N371D|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	409					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GCCACATTTAAATTCAAAGAA	0.343																																																0													59.0	61.0	61.0					2																	30863465		2193	4296	6489	SO:0001583	missense	253558			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.1225A>G	2.37:g.30863465A>G	ENSP00000310551:p.Asn409Asp		A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.721129	0.00700	.	.	ENSG00000172954	ENST00000379509;ENST00000309052;ENST00000540623	T;T;T	0.29917	1.61;1.55;1.61	6.03	0.97	0.19692	.	1.507620	0.03294	N	0.188038	T	0.16642	0.0400	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17868	-1.0355	10	0.34782	T	0.22	-7.8006	4.7062	0.12851	0.285:0.359:0.356:0.0	.	409	Q6UWP7	LCLT1_HUMAN	D	371;409;371	ENSP00000368823:N371D;ENSP00000310551:N409D;ENSP00000442857:N371D	ENSP00000310551:N409D	N	+	1	0	LCLAT1	30716969	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	0.143000	0.16115	0.171000	0.19730	-0.379000	0.06801	AAT		0.343	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		19	157	19	157
PDE1A	5136	broad.mit.edu;ucsc.edu	37	2	183095781	183095781	+	Nonsense_Mutation	SNP	A	A	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:183095781A>C	ENST00000410103.1	-	6	626	c.543T>G	c.(541-543)taT>taG	p.Y181*	PDE1A_ENST00000435564.1_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000536095.1_Nonsense_Mutation_p.Y77*|PDE1A_ENST00000331935.6_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000346717.4_Nonsense_Mutation_p.Y147*|PDE1A_ENST00000358139.2_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000456212.1_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000409365.1_Nonsense_Mutation_p.Y165*|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000351439.5_Nonsense_Mutation_p.Y165*	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	181					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TAAACAGTTCATAAATCATAA	0.323																																																0													129.0	132.0	131.0					2																	183095781		2203	4299	6502	SO:0001587	stop_gained	5136				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.543T>G	2.37:g.183095781A>C	ENSP00000387037:p.Tyr181*		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Nonsense_Mutation	SNP	ENST00000410103.1	37	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089201	0.76756	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7393	0.77876	1.0:0.0:0.0:0.0	.	.	.	.	X	181;147;77;165;181;165;181;181;181	.	ENSP00000331574:Y181X	Y	-	3	2	PDE1A	182804026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.189000	0.50965	2.308000	0.77769	0.533000	0.62120	TAT		0.323	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			39	255	39	255
MIB2	142678	broad.mit.edu;ucsc.edu	37	1	1563188	1563188	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:1563188C>T	ENST00000357210.4	+	13	2049	c.1833C>T	c.(1831-1833)cgC>cgT	p.R611R	MIB2_ENST00000520777.1_Silent_p.R664R|MIB2_ENST00000378712.1_Silent_p.R488R|MIB2_ENST00000355826.5_Silent_p.R654R|MIB2_ENST00000378710.3_Silent_p.R575R|MIB2_ENST00000504599.1_Silent_p.R567R|MIB2_ENST00000360522.4_Silent_p.R576R|MIB2_ENST00000378708.1_Silent_p.R517R|MIB2_ENST00000518681.1_Silent_p.R603R|MIB2_ENST00000505820.2_Silent_p.R668R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	611					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGTGTGAGCGCGGCTGTGACG	0.692																																																0													24.0	32.0	29.0					1																	1563188		2183	4273	6456	SO:0001819	synonymous_variant	142678			AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.1833C>T	1.37:g.1563188C>T			A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Silent	SNP	ENST00000357210.4	37		.	.	.	.	.	.	.	.	.	.	T	0.425	-0.906480	0.02453	.	.	ENSG00000197530	ENST00000514234	T	0.66815	-0.23	3.8	-7.6	0.01303	.	0.662303	0.15407	N	0.263978	T	0.61677	0.2366	.	.	.	0.41524	D	0.988411	.	.	.	.	.	.	T	0.65977	-0.6037	7	0.52906	T	0.07	-1.1639	6.5973	0.22681	0.216:0.5558:0.1007:0.1276	.	.	.	.	W	427	ENSP00000427680:R427W	ENSP00000427680:R427W	R	+	1	2	MIB2	1553051	0.000000	0.05858	0.001000	0.08648	0.089000	0.18198	-1.303000	0.02743	-2.338000	0.00627	-1.800000	0.00619	CGG		0.692	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		8	12	8	12
CELSR1	9620	broad.mit.edu;ucsc.edu	37	22	46929761	46929761	+	Missense_Mutation	SNP	C	C	T	rs145654024		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr22:46929761C>T	ENST00000262738.3	-	1	3306	c.3307G>A	c.(3307-3309)Gac>Aac	p.D1103N	CELSR1_ENST00000497509.1_5'UTR|CELSR1_ENST00000395964.1_Missense_Mutation_p.D1103N	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1103					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCTGGAAGTCGGGCAGCACA	0.607																																																0													170.0	172.0	172.0					22																	46929761		2203	4300	6503	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3307G>A	22.37:g.46929761C>T	ENSP00000262738:p.Asp1103Asn		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	8.932	0.963783	0.18583	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.37584	1.19;1.19	4.53	4.53	0.55603	Cadherin-like (1);	0.152547	0.41712	U	0.000832	T	0.24736	0.0600	N	0.20445	0.575	0.39837	D	0.973053	B	0.24963	0.115	B	0.18871	0.023	T	0.06917	-1.0800	10	0.21014	T	0.42	.	16.8744	0.86047	0.0:1.0:0.0:0.0	.	1103	Q9NYQ6	CELR1_HUMAN	N	1103	ENSP00000262738:D1103N;ENSP00000379293:D1103N	ENSP00000262738:D1103N	D	-	1	0	CELSR1	45308425	0.941000	0.31946	0.995000	0.50966	0.805000	0.45488	1.715000	0.37971	2.068000	0.61886	0.462000	0.41574	GAC		0.607	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		35	359	35	359
TP53	7157	broad.mit.edu;hgsc.bcm.edu	37	17	7577101	7577101	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:7577101delC	ENST00000269305.4	-	8	1026	c.837delG	c.(835-837)gggfs	p.G279fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.G279fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.G279fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.G279fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.G279fs	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	279	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (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.0?(8)|p.G279G(3)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.G279V(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.G279E(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GCCGGTCTCTCCCAGGACAGG	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	28	Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Substitution - coding silent(3)|Unknown(2)|Substitution - Missense(2)	upper_aerodigestive_tract(7)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|breast(3)|central_nervous_system(2)|oesophagus(2)|stomach(1)|skin(1)|ovary(1)|prostate(1)	GRCh37	CD963012	TP53	D							76.0	65.0	69.0					17																	7577101		2203	4300	6503	SO:0001589	frameshift_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.837delG	17.37:g.7577101delC	ENSP00000269305:p.Gly279fs		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		90	19	90	19
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76907649	76907650	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chrX:76907649_76907650delTC	ENST00000373344.5	-	15	4725_4726	c.4511_4512delGA	c.(4510-4512)cgafs	p.R1504fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1466fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1504					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CAATACGTTTTCGTCTCTCTTC	0.386			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4511_4512delGA	X.37:g.76907649_76907650delTC	ENSP00000362441:p.Arg1504fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.386	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		180	59	180	59
