#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCC10	89845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43402469	43402469	+	Silent	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr6:43402469G>A	ENST00000372530.4	+	4	1706	c.1491G>A	c.(1489-1491)cgG>cgA	p.R497R	ABCC10_ENST00000443426.2_3'UTR|ABCC10_ENST00000244533.3_Silent_p.R454R	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	497	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R454R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGCGACTCCGGGTCATCAAAT	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											98.0	105.0	102.0					6																	43402469		2203	4300	6503	SO:0001819	synonymous_variant	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1491G>A	6.37:g.43402469G>A			Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	CCDS56430.1																																																																																				0.602	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2		NM_033450	
Unknown	0	broad.mit.edu	37	14	106899139	106899140	+	IGR	INS	-	-	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr14:106899139_106899140insT								IGHV4-39 (21013 upstream) : IGHV3-43 (27047 downstream)																							GTGAATCGGCCCTTCACAGAGT	0.5																																																	0																																										SO:0001628	intergenic_variant	8755																															14.37:g.106899139_106899140insT				Splice_Site	INS		37																																																																																				0	0.500									
ADAMTS5	11096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	28338273	28338273	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr21:28338273delA	ENST00000284987.5	-	1	559	c.438delT	c.(436-438)tttfs	p.F146fs		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	146					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CACAGAGGTCAAAGACAGCCA	0.672																																					Esophageal Squamous(53;683 1080 10100 14424 45938)												0													26.0	24.0	25.0					21																	28338273		2203	4297	6500	SO:0001589	frameshift_variant	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.438delT	21.37:g.28338273delA	ENSP00000284987:p.Phe146fs		Q52LV4|Q9UKP2	Frame_Shift_Del	DEL	ENST00000284987.5	37	CCDS13579.1																																																																																				0.672	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			
AJAP1	55966	hgsc.bcm.edu	37	1	4772582	4772583	+	In_Frame_Ins	INS	-	-	CCA	rs149907194|rs529940202	byFrequency	TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:4772582_4772583insCCA	ENST00000378191.4	+	2	1033_1034	c.652_653insCCA	c.(652-654)gcc>gCCAcc	p.225_226insT	AJAP1_ENST00000378190.3_In_Frame_Ins_p.225_226insT	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T225_A226insT(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		AACTGTGGccgccaccaccacc	0.639														10	0.00199681	0.0023	0.0029	5008	,	,		14933	0.0		0.005	False		,,,				2504	0.0																1	Insertion - In frame(1)	large_intestine(1)																																								SO:0001652	inframe_insertion	55966			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.671_673dupCCA	1.37:g.4772589_4772591dupCCA	ENSP00000367433:p.Thr226_Thr227dup		Q9Y229	In_Frame_Ins	INS	ENST00000378191.4	37	CCDS54.1																																																																																				0.639	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3		NM_018836	
AKAP8L	26993	hgsc.bcm.edu;ucsc.edu	37	19	15511126	15511126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:15511126delC	ENST00000397410.5	-	8	1158	c.1028delG	c.(1027-1029)ggcfs	p.G343fs	AKAP8L_ENST00000595465.2_Frame_Shift_Del_p.G282fs|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	343						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						ATCCTCTTTGCCTTCTTCTCT	0.498																																																	0													111.0	125.0	120.0					19																	15511126		1937	4144	6081	SO:0001589	frameshift_variant	26993			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1028delG	19.37:g.15511126delC	ENSP00000380557:p.Gly343fs		B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Frame_Shift_Del	DEL	ENST00000397410.5	37	CCDS46005.1																																																																																				0.498	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2		NM_014371	
AKNAD1	254268	broad.mit.edu;hgsc.bcm.edu	37	1	109369917	109369917	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:109369917T>A	ENST00000370001.3	-	11	2114	c.1846A>T	c.(1846-1848)Aac>Tac	p.N616Y	AKNAD1_ENST00000357393.4_Missense_Mutation_p.N323Y|AKNAD1_ENST00000369995.3_Missense_Mutation_p.N616Y|AKNAD1_ENST00000369994.1_Missense_Mutation_p.N586Y	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	616			N -> K (in dbSNP:rs7551421). {ECO:0000269|PubMed:17974005}.			cytoplasm (GO:0005737)		p.N616Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTCTCCACGTTTTGCTTCCTA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											150.0	155.0	153.0					1																	109369917		2203	4299	6502	SO:0001583	missense	254268			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1846A>T	1.37:g.109369917T>A	ENSP00000359018:p.Asn616Tyr		B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	11.33	1.606265	0.28623	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.0	3.86	0.44501	.	0.949771	0.08698	N	0.906845	T	0.04272	0.0118	N	0.19112	0.55	0.09310	N	1	B;B	0.19583	0.037;0.019	B;B	0.13407	0.009;0.009	T	0.42085	-0.9472	10	0.72032	D	0.01	-0.0014	8.1401	0.31078	0.1786:0.0:0.0:0.8214	.	323;616	B4DET8;Q5T1N1	.;AKND1_HUMAN	Y	616;323;586;616	ENSP00000359018:N616Y;ENSP00000349968:N323Y;ENSP00000359011:N586Y;ENSP00000359012:N616Y	ENSP00000349968:N323Y	N	-	1	0	AKNAD1	109171440	0.894000	0.30519	0.068000	0.19968	0.000000	0.00434	3.379000	0.52440	1.013000	0.39391	-0.496000	0.04628	AAC		0.368	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2		NM_152763	
ALDH16A1	126133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49963012	49963012	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:49963012G>A	ENST00000293350.4	+	4	569	c.406G>A	c.(406-408)Gac>Aac	p.D136N	ALDH16A1_ENST00000433981.2_5'UTR|CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.D136N	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	136						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.D136N(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		AGAGGTTCGAGACGGGGACGT	0.642																																																	1	Substitution - Missense(1)	kidney(1)											56.0	55.0	55.0					19																	49963012		2203	4300	6503	SO:0001583	missense	126133			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.406G>A	19.37:g.49963012G>A	ENSP00000293350:p.Asp136Asn		B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646084	0.47258	.	.	ENSG00000161618	ENST00000293350;ENST00000455361	T;T	0.75704	-0.96;-0.96	5.38	5.38	0.77491	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.373199	0.28653	N	0.014593	T	0.72510	0.3469	L	0.47716	1.5	0.80722	D	1	P;P	0.47484	0.896;0.505	P;B	0.45660	0.489;0.282	T	0.73962	-0.3817	10	0.48119	T	0.1	-7.5731	15.0276	0.71682	0.0:0.0:1.0:0.0	.	136;136	B4DLQ1;Q8IZ83	.;A16A1_HUMAN	N	136	ENSP00000293350:D136N;ENSP00000410142:D136N	ENSP00000293350:D136N	D	+	1	0	ALDH16A1	54654824	0.796000	0.28864	0.987000	0.45799	0.048000	0.14542	3.284000	0.51708	2.704000	0.92352	0.585000	0.79938	GAC		0.642	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1		NM_153329	
ALDH1A1	216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	75540461	75540461	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr9:75540461A>G	ENST00000297785.3	-	6	626	c.572T>C	c.(571-573)gTt>gCt	p.V191A	ALDH1A1_ENST00000376939.1_Missense_Mutation_p.V191A|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	191					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)	p.V205A(1)|p.V191A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TGGTTTGACAACCACTGTGTT	0.423																																																	2	Substitution - Missense(2)	kidney(2)											123.0	109.0	114.0					9																	75540461		2203	4300	6503	SO:0001583	missense	216			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.572T>C	9.37:g.75540461A>G	ENSP00000297785:p.Val191Ala		O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	A	31	5.101711	0.94245	.	.	ENSG00000165092	ENST00000297785;ENST00000376939;ENST00000428593;ENST00000419959;ENST00000446946	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.63	5.63	0.86233	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.315970	0.27464	N	0.019245	T	0.55065	0.1897	H	0.94886	3.595	0.51233	D	0.999916	B;B	0.23937	0.094;0.092	B;B	0.42062	0.374;0.311	T	0.62497	-0.6842	10	0.87932	D	0	.	15.841	0.78845	1.0:0.0:0.0:0.0	.	112;191	B4DDF8;P00352	.;AL1A1_HUMAN	A	191;191;205;191;191	ENSP00000297785:V191A;ENSP00000366138:V191A;ENSP00000388026:V191A;ENSP00000401361:V191A	ENSP00000297785:V191A	V	-	2	0	ALDH1A1	74730281	0.978000	0.34361	0.177000	0.23020	0.974000	0.67602	8.903000	0.92573	2.146000	0.66826	0.459000	0.35465	GTT		0.423	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			
ARID1B	57492	broad.mit.edu;hgsc.bcm.edu	37	6	157520041	157520041	+	Splice_Site	SNP	G	G	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr6:157520041G>C	ENST00000350026.5	+	16	4072	c.4071G>C	c.(4069-4071)ccG>ccC	p.P1357P	ARID1B_ENST00000275248.4_Splice_Site_p.P1352P|ARID1B_ENST00000367148.1_Splice_Site_p.P1410P|ARID1B_ENST00000346085.5_Splice_Site_p.P1370P	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1357					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.P1352P(1)|p.P1370P(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CACAGCAGCCGGTGAGTTGGC	0.567																																																	2	Substitution - coding silent(2)	kidney(2)											14.0	17.0	16.0					6																	157520041		2199	4292	6491	SO:0001630	splice_region_variant	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4071+1G>C	6.37:g.157520041G>C			Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	CCDS5251.2																																																																																				0.567	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1		NM_020732	Silent
ASAP1	50807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	131073178	131073179	+	Missense_Mutation	DNP	CC	CC	GG			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr8:131073178_131073179CC>GG	ENST00000518721.1	-	28	3065_3066	c.2838_2839GG>CC	c.(2836-2841)ctGGcc>ctCCcc	p.A947P	ASAP1_ENST00000357668.1_Missense_Mutation_p.A947P	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	947	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.L946>?(1)|p.L946L(1)|p.A947P(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGCTTGGGGGCCAGTTCTGTGG	0.574																																																	3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2838_2839delinsGG	8.37:g.131073178_131073179delinsGG	ENSP00000429900:p.Ala947Pro		B2RNV3	Missense_Mutation|Silent	SNP	ENST00000518721.1	37	CCDS6362.1																																																																																				0.574	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1		NM_018482	
AXL	558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41763495	41763495	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:41763495G>A	ENST00000301178.4	+	19	2484	c.2294G>A	c.(2293-2295)gGa>gAa	p.G765E	AXL_ENST00000359092.3_Missense_Mutation_p.G756E|AXL_ENST00000593513.1_Missense_Mutation_p.G497E	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	765	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G756E(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTGCGCCAGGGAAATCGCCTG	0.562																																																	1	Substitution - Missense(1)	kidney(1)											137.0	127.0	131.0					19																	41763495		2203	4300	6503	SO:0001583	missense	558			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2294G>A	19.37:g.41763495G>A	ENSP00000301178:p.Gly765Glu		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923288	0.92319	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	D;D	0.83992	-1.79;-1.79	4.62	4.62	0.57501	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92718	0.7685	M	0.91459	3.21	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.75484	0.939;0.986	D	0.94238	0.7482	10	0.87932	D	0	-8.2416	16.7643	0.85520	0.0:0.0:1.0:0.0	.	756;765	P30530-2;P30530	.;UFO_HUMAN	E	765;756	ENSP00000301178:G765E;ENSP00000351995:G756E	ENSP00000301178:G765E	G	+	2	0	AXL	46455335	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.478000	0.97927	2.557000	0.86248	0.650000	0.86243	GGA		0.562	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			
BICD1	636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	32369298	32369298	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr12:32369298G>T	ENST00000281474.5	+	2	434	c.331G>T	c.(331-333)Gag>Tag	p.E111*	BICD1_ENST00000548411.1_Nonsense_Mutation_p.E111*	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	111					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.E111*(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GAAGATCTTGGAGATGCAGAA	0.537																																																	1	Substitution - Nonsense(1)	kidney(1)											109.0	101.0	104.0					12																	32369298		2203	4300	6503	SO:0001587	stop_gained	636			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.331G>T	12.37:g.32369298G>T	ENSP00000281474:p.Glu111*		A8K2C3|F8W113|O43892|O43893	Nonsense_Mutation	SNP	ENST00000281474.5	37	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	38	6.949096	0.97956	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	.	.	.	5.55	5.55	0.83447	.	0.131649	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.5182	0.95174	0.0:0.0:1.0:0.0	.	.	.	.	X	111	.	ENSP00000281474:E111X	E	+	1	0	BICD1	32260565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.593000	0.82686	2.603000	0.88011	0.655000	0.94253	GAG		0.537	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1		NM_001714	
MROH8	140699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	35772198	35772198	+	Missense_Mutation	SNP	C	C	A	rs200754300		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr20:35772198C>A	ENST00000400441.3	-	11	1256	c.1257G>T	c.(1255-1257)ttG>ttT	p.L419F	MROH8_ENST00000441008.2_Missense_Mutation_p.L405F|MROH8_ENST00000217333.8_Missense_Mutation_p.L299F			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	304								p.L419F(1)									GACATTTTGTCAATGCTCTTT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											63.0	57.0	59.0					20																	35772198		1839	4085	5924	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1257G>T	20.37:g.35772198C>A	ENSP00000383291:p.Leu419Phe		Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.69|11.69|11.69	1.712504|1.712504|1.712504	0.30322|0.30322|0.30322	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000417458;ENST00000421643|ENST00000441008;ENST00000400441;ENST00000217333|ENST00000343811;ENST00000400440	.|T;T;T|.	.|0.49432|.	.|2.79;2.79;0.78|.	4.91|4.91|4.91	3.94|3.94|3.94	0.45596|0.45596|0.45596	.|.|.	.|3.709890|.	.|0.00783|.	.|N|.	.|0.001297|.	T|T|.	0.29190|0.29190|.	0.0726|0.0726|.	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.34018|0.34018|0.34018	D|D|D	0.652282|0.652282|0.652282	.|P;P;P;P|.	.|0.49090|.	.|0.779;0.919;0.919;0.571|.	.|B;B;B;B|.	.|0.43052|.	.|0.168;0.406;0.406;0.16|.	T|T|.	0.39961|0.39961|.	-0.9588|-0.9588|.	5|10|.	.|0.51188|.	.|T|.	.|0.08|.	-1.6647|-1.6647|-1.6647	10.5821|10.5821|10.5821	0.45261|0.45261|0.45261	0.1926:0.8074:0.0:0.0|0.1926:0.8074:0.0:0.0|0.1926:0.8074:0.0:0.0	.|.|.	.|419;304;429;304|.	.|E7ETR9;Q9H579;Q6PF12;Q9H579-2|.	.|.;CT132_HUMAN;.;.|.	Y|F|L	98;421|405;419;299|446;450	.|ENSP00000392144:L405F;ENSP00000383291:L419F;ENSP00000217333:L299F|.	.|ENSP00000217333:L299F|.	D|L|X	-|-|-	1|3|2	0|2|2	C20orf132|C20orf132|C20orf132	35205612|35205612|35205612	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	0.984000|0.984000|0.984000	0.44739|0.44739|0.44739	0.519000|0.519000|0.519000	0.34347|0.34347|0.34347	1.161000|1.161000|1.161000	0.31773|0.31773|0.31773	1.389000|1.389000|1.389000	0.46526|0.46526|0.46526	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAC|TTG|TGA		0.353	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_152503	
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																																	0																																												0			AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G				RNA	SNP	ENST00000507941.1	37																																																																																					0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1		NR_026916	
CA5B	11238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	15768234	15768234	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chrX:15768234C>G	ENST00000318636.3	+	2	224	c.88C>G	c.(88-90)Cca>Gca	p.P30A	CA5B_ENST00000454127.2_Missense_Mutation_p.P30A|CA5B_ENST00000380313.1_3'UTR	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	0						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.P30A(1)		endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					GAGATTCATGCCAGCGAGGCC	0.493																																																	1	Substitution - Missense(1)	kidney(1)											117.0	115.0	115.0					X																	15768234		2203	4300	6503	SO:0001583	missense	11238			AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.88C>G	X.37:g.15768234C>G	ENSP00000314099:p.Pro30Ala		A6NEZ4	Missense_Mutation	SNP	ENST00000318636.3	37	CCDS14171.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897900	0.33535	.	.	ENSG00000169239	ENST00000498004;ENST00000318636;ENST00000479740;ENST00000454127	T;T;T	0.68624	-0.34;0.1;-0.34	5.37	4.5	0.54988	.	0.417536	0.20109	N	0.099052	T	0.54175	0.1842	L	0.32530	0.975	0.09310	N	0.999999	P	0.36144	0.539	B	0.35899	0.213	T	0.50457	-0.8826	10	0.56958	D	0.05	-2.9105	9.3905	0.38370	0.0:0.898:0.0:0.102	.	30	Q9Y2D0	CAH5B_HUMAN	A	30	ENSP00000314099:P30A;ENSP00000417553:P30A;ENSP00000417021:P30A	ENSP00000314099:P30A	P	+	1	0	CA5B	15678155	0.006000	0.16342	0.006000	0.13384	0.058000	0.15608	1.003000	0.29809	1.032000	0.39892	0.513000	0.50165	CCA		0.493	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1		NM_007220	
CACNA1B	774	broad.mit.edu;hgsc.bcm.edu	37	9	140904474	140904474	+	Missense_Mutation	SNP	A	A	T	rs201912991		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr9:140904474A>T	ENST00000371372.1	+	17	2250	c.2105A>T	c.(2104-2106)aAt>aTt	p.N702I	CACNA1B_ENST00000371363.1_Missense_Mutation_p.N702I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.N703I|CACNA1B_ENST00000277550.3_5'Flank|CACNA1B_ENST00000371357.1_Missense_Mutation_p.N703I|CACNA1B_ENST00000277549.5_De_novo_Start_OutOfFrame|CACNA1B_ENST00000277551.2_Missense_Mutation_p.N702I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	702					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.N702I(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	ACTCTGCTGAATGTCTTTCTG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											65.0	69.0	68.0					9																	140904474		2154	4269	6423	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2105A>T	9.37:g.140904474A>T	ENSP00000360423:p.Asn702Ile		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.317961	0.60524	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.99298	-5.71;-5.71;-5.71;-5.71;-5.71	4.4	4.4	0.53042	.	0.107182	0.64402	D	0.000007	D	0.99661	0.9874	H	0.98754	4.32	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	D	0.97392	0.9990	10	0.87932	D	0	.	12.9033	0.58137	1.0:0.0:0.0:0.0	.	702;702	B1AQK4;B1AQK6	.;.	I	702;702;702;703;703	ENSP00000360423:N702I;ENSP00000277551:N702I;ENSP00000360414:N702I;ENSP00000360408:N703I;ENSP00000360406:N703I	ENSP00000277551:N702I	N	+	2	0	CACNA1B	140024295	1.000000	0.71417	0.903000	0.35520	0.843000	0.47879	8.683000	0.91236	1.751000	0.51876	0.379000	0.24179	AAT		0.602	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1		NM_000718	
CBFA2T3	863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	88958664	88958664	+	Silent	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr16:88958664C>T	ENST00000268679.4	-	4	1005	c.609G>A	c.(607-609)gtG>gtA	p.V203V	CBFA2T3_ENST00000448839.1_Silent_p.V127V|CBFA2T3_ENST00000436887.2_Silent_p.V178V|CBFA2T3_ENST00000327483.5_Silent_p.V117V|CBFA2T3_ENST00000360302.2_Silent_p.V117V	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	203	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V203V(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CCAGGCCCAGCACCAGTGTGC	0.627			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""		L	1	Substitution - coding silent(1)	kidney(1)											41.0	43.0	42.0					16																	88958664		2198	4298	6496	SO:0001819	synonymous_variant	863			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.609G>A	16.37:g.88958664C>T			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	ENST00000268679.4	37	CCDS10972.1																																																																																				0.627	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2		NM_005187	
CEP135	9662	broad.mit.edu;hgsc.bcm.edu	37	4	56884018	56884018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr4:56884018G>T	ENST00000257287.4	+	22	3131	c.3007G>T	c.(3007-3009)Gag>Tag	p.E1003*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1003					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.E1003*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CCTTGAGTTTGAGAGGGTAAG	0.328																																																	1	Substitution - Nonsense(1)	kidney(1)											33.0	36.0	35.0					4																	56884018		2203	4300	6503	SO:0001587	stop_gained	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3007G>T	4.37:g.56884018G>T	ENSP00000257287:p.Glu1003*		B2RMY0|O75130|Q58F25|Q9H8H7	Nonsense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	42	9.606755	0.99217	.	.	ENSG00000174799	ENST00000257287	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	.	.	.	X	1003	.	ENSP00000257287:E1003X	E	+	1	0	CEP135	56578775	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.313000	0.96297	2.677000	0.91161	0.655000	0.94253	GAG		0.328	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2		NM_025009	
CHD9	80205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	53320220	53320220	+	Silent	SNP	T	T	G			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr16:53320220T>G	ENST00000398510.3	+	25	5241	c.5154T>G	c.(5152-5154)gtT>gtG	p.V1718V	CHD9_ENST00000564845.1_Silent_p.V1718V|CHD9_ENST00000566029.1_Silent_p.V1718V|CHD9_ENST00000447540.1_Silent_p.V1718V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1718					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.V1718V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGAAAGCAGTTGCTGCTGAAC	0.363																																																	1	Substitution - coding silent(1)	kidney(1)											90.0	89.0	90.0					16																	53320220		1889	4118	6007	SO:0001819	synonymous_variant	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5154T>G	16.37:g.53320220T>G			B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37																																																																																					0.363	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1		NM_025134	
CHGB	1114	broad.mit.edu	37	20	5903113	5903113	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr20:5903113G>T	ENST00000378961.4	+	4	527	c.323G>T	c.(322-324)gGg>gTg	p.G108V		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	108						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.G108V(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGAGCCCCAGGGGAGGAGGAC	0.582																																																	1	Substitution - Missense(1)	kidney(1)											36.0	37.0	37.0					20																	5903113		2203	4300	6503	SO:0001583	missense	1114				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.323G>T	20.37:g.5903113G>T	ENSP00000368244:p.Gly108Val		A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	8.477	0.858879	0.17178	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.09723	3.43;2.95	5.25	-2.96	0.05547	.	1.172930	0.06186	N	0.680415	T	0.06554	0.0168	L	0.28274	0.84	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.41980	-0.9478	10	0.38643	T	0.18	-6.7663	2.6853	0.05106	0.1389:0.2391:0.3838:0.2382	.	108	P05060	SCG1_HUMAN	V	108;88	ENSP00000368244:G108V;ENSP00000416643:G88V	ENSP00000368244:G108V	G	+	2	0	CHGB	5851113	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.774000	0.01784	-0.285000	0.09089	-2.364000	0.00238	GGG		0.582	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2		NM_001819	
CLEC4M	10332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7833849	7833849	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:7833849C>T	ENST00000327325.5	+	7	1293	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L	CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P341L|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P325L|CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P370L|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P256L|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P380L|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P325L	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	392					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)	p.P392L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGCAAAAAGCCCGCAGCCTGC	0.498																																																	1	Substitution - Missense(1)	kidney(1)											168.0	135.0	146.0					19																	7833849		2203	4300	6503	SO:0001583	missense	10332			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1175C>T	19.37:g.7833849C>T	ENSP00000316228:p.Pro392Leu		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625183	0.28889	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	2.12	1.04	0.20106	C-type lectin fold (1);C-type lectin-like (1);	.	.	.	.	T	0.19248	0.0462	L	0.28649	0.875	0.09310	N	1	B;P;P;P;B;D	0.60160	0.399;0.731;0.954;0.805;0.414;0.987	B;B;B;B;B;P	0.57776	0.058;0.215;0.359;0.344;0.016;0.827	T	0.12528	-1.0544	9	0.39692	T	0.17	.	4.767	0.13137	0.0:0.8092:0.0:0.1908	.	341;325;392;380;369;256	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7	.;.;CLC4M_HUMAN;.;.;.	L	392;380;370;341;325	ENSP00000316228:P392L;ENSP00000377680:P380L;ENSP00000248228:P370L;ENSP00000335228:P341L;ENSP00000351954:P325L	ENSP00000248228:P370L	P	+	2	0	CLEC4M	7739849	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.594000	0.24014	0.448000	0.26722	0.306000	0.20318	CCC		0.498	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1		NM_014257	
CMA1	1215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24975760	24975760	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr14:24975760G>C	ENST00000250378.3	-	3	289	c.260C>G	c.(259-261)aCa>aGa	p.T87R	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_5'UTR	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	87	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.T87R(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CTTCTGCCATGTGTCTTCTTC	0.438																																																	1	Substitution - Missense(1)	kidney(1)											326.0	287.0	300.0					14																	24975760		2203	4300	6503	SO:0001583	missense	1215				CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.260C>G	14.37:g.24975760G>C	ENSP00000250378:p.Thr87Arg		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590225	0.66105	.	.	ENSG00000092009	ENST00000250378	D	0.89050	-2.46	5.52	5.52	0.82312	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000019	D	0.90297	0.6965	L	0.28776	0.89	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	D	0.90895	0.4764	10	0.87932	D	0	.	14.8222	0.70082	0.0:0.0:1.0:0.0	.	87	P23946	CMA1_HUMAN	R	87	ENSP00000250378:T87R	ENSP00000250378:T87R	T	-	2	0	CMA1	24045600	0.195000	0.23338	0.101000	0.21167	0.015000	0.08874	2.025000	0.41059	2.880000	0.98712	0.655000	0.94253	ACA		0.438	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			
CYP2A13	1553	broad.mit.edu;hgsc.bcm.edu	37	19	41594486	41594486	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:41594486C>G	ENST00000330436.3	+	1	110	c.110C>G	c.(109-111)cCc>cGc	p.P37R		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	37					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.P37R(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CCTCCGGGACCCACCCCATTG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											88.0	78.0	81.0					19																	41594486		2203	4300	6503	SO:0001583	missense	1553			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.110C>G	19.37:g.41594486C>G	ENSP00000332679:p.Pro37Arg		Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.939600	0.52972	.	.	ENSG00000197838	ENST00000330436	T	0.02158	4.42	3.33	3.33	0.38152	.	0.000000	0.85682	U	0.000000	T	0.16041	0.0386	M	0.92970	3.365	0.39767	D	0.972116	D	0.89917	1.0	D	0.97110	1.0	T	0.05666	-1.0871	10	0.87932	D	0	.	12.5835	0.56403	0.0:1.0:0.0:0.0	.	37	Q16696	CP2AD_HUMAN	R	37	ENSP00000332679:P37R	ENSP00000332679:P37R	P	+	2	0	CYP2A13	46286326	0.998000	0.40836	0.473000	0.27253	0.545000	0.35147	4.755000	0.62198	1.870000	0.54199	0.444000	0.29173	CCC		0.582	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1		NM_000766	
DNAJC3	5611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	96438228	96438228	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr13:96438228G>A	ENST00000602402.1	+	10	1228	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	DNAJC3_ENST00000376795.6_Missense_Mutation_p.E320K	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	371					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)	p.E371K(1)		NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GGAACACAATGAAAATGATCA	0.318																																																	1	Substitution - Missense(1)	kidney(1)											52.0	52.0	52.0					13																	96438228		2203	4300	6503	SO:0001583	missense	5611			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1111G>A	13.37:g.96438228G>A	ENSP00000473631:p.Glu371Lys		Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	37	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423379	0.83559	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.52	5.52	0.82312	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000002	T	0.53965	0.1829	N	0.25992	0.78	0.80722	D	1	B;B	0.22346	0.068;0.068	B;B	0.24974	0.057;0.057	T	0.46428	-0.9192	9	0.36615	T	0.2	-3.2291	19.8034	0.96518	0.0:0.0:1.0:0.0	.	371;371	A8KA82;Q13217	.;DNJC3_HUMAN	K	371	.	ENSP00000365991:E371K	E	+	1	0	DNAJC3	95236229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.097000	0.94193	2.760000	0.94817	0.655000	0.94253	GAA		0.318	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			
ETFB	2109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51848472	51848472	+	Missense_Mutation	SNP	C	C	T	rs145173884		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:51848472C>T	ENST00000309244.4	-	6	852	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000354232.4_Missense_Mutation_p.R345Q|CTD-2616J11.16_ENST00000601148.1_RNA|CTD-2616J11.16_ENST00000594311.1_RNA	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	254					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)	p.R345Q(1)		kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		GGCTCAAATCCGCCCAATCTC	0.512																																																	1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	111.0	110.0	110.0		1034,761	3.3	1.0	19	dbSNP_134	110	0,8600		0,0,4300	no	missense,missense	ETFB	NM_001014763.1,NM_001985.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	345/347,254/256	51848472	1,13005	2203	4300	6503	SO:0001583	missense	2109			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.761G>A	19.37:g.51848472C>T	ENSP00000311930:p.Arg254Gln		A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	ENST00000309244.4	37	CCDS12828.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063196	0.55432	2.27E-4	0.0	ENSG00000105379	ENST00000309244;ENST00000354232	D;D	0.84070	-1.65;-1.8	4.35	3.3	0.37823	.	0.130868	0.47852	D	0.000209	T	0.73087	0.3542	L	0.33485	1.01	0.45822	D	0.998692	B;B	0.24618	0.001;0.107	B;B	0.17433	0.001;0.018	T	0.72014	-0.4418	10	0.56958	D	0.05	.	10.8707	0.46881	0.0:0.906:0.0:0.094	.	254;345	P38117;P38117-2	ETFB_HUMAN;.	Q	254;345	ENSP00000311930:R254Q;ENSP00000346173:R345Q	ENSP00000311930:R254Q	R	-	2	0	ETFB	56540284	0.997000	0.39634	0.996000	0.52242	0.875000	0.50365	1.392000	0.34486	1.417000	0.47077	0.655000	0.94253	CGG		0.512	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464273.1			
GALNT6	11226	hgsc.bcm.edu;ucsc.edu	37	12	51751134	51751134	+	Splice_Site	SNP	T	T	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr12:51751134T>C	ENST00000543196.2	-	9	1806	c.1601A>G	c.(1600-1602)cAg>cGg	p.Q534R	GALNT6_ENST00000356317.3_Splice_Site_p.Q534R			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	534	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTGCATACCTGGTTGCCGCC	0.587																																																	0													90.0	74.0	79.0					12																	51751134		2203	4300	6503	SO:0001630	splice_region_variant	11226			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1602+1A>G	12.37:g.51751134T>C			Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879977	0.72294	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.63580	-0.05;-0.05	3.3	3.3	0.37823	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.81819	0.4903	M	0.93638	3.44	0.53005	D	0.999966	D	0.89917	1.0	D	0.91635	0.999	D	0.85039	0.0922	10	0.87932	D	0	.	10.0251	0.42066	0.0:0.0:0.0:1.0	.	534	Q8NCL4	GALT6_HUMAN	R	534;534;515	ENSP00000444171:Q534R;ENSP00000348668:Q534R	ENSP00000348668:Q534R	Q	-	2	0	GALNT6	50037401	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	7.802000	0.85969	1.757000	0.51966	0.459000	0.35465	CAG		0.587	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1		NM_007210	Missense_Mutation
FGD6	55785	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	95546763	95546763	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr12:95546763C>A	ENST00000343958.4	-	4	2816	c.2593G>T	c.(2593-2595)Gat>Tat	p.D865Y	FGD6_ENST00000546711.1_Missense_Mutation_p.D865Y|FGD6_ENST00000549499.1_Missense_Mutation_p.D865Y	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	865					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.D865Y(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATTCCATTATCTTCATCCTGT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											132.0	126.0	128.0					12																	95546763		2203	4300	6503	SO:0001583	missense	55785			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2593G>T	12.37:g.95546763C>A	ENSP00000344446:p.Asp865Tyr		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854897	0.32791	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.28666	1.6;1.6;1.6	6.04	5.15	0.70609	Dbl homology (DH) domain (2);	0.146451	0.32736	N	0.005705	T	0.27169	0.0666	N	0.14661	0.345	0.33357	D	0.571834	D	0.56521	0.976	P	0.51016	0.656	T	0.43442	-0.9391	10	0.72032	D	0.01	-14.8851	11.2217	0.48860	0.0:0.8614:0.0:0.1386	.	865	Q6ZV73	FGD6_HUMAN	Y	865	ENSP00000344446:D865Y;ENSP00000450342:D865Y;ENSP00000449005:D865Y	ENSP00000344446:D865Y	D	-	1	0	FGD6	94070894	0.995000	0.38212	1.000000	0.80357	0.968000	0.65278	2.102000	0.41796	1.574000	0.49760	0.561000	0.74099	GAT		0.353	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1		NM_018351	
GBA	2629	broad.mit.edu	37	1	155207294	155207294	+	Silent	SNP	C	C	T	rs371576958		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:155207294C>T	ENST00000327247.5	-	8	1069	c.837G>A	c.(835-837)ctG>ctA	p.L279L	GBA_ENST00000428024.3_Silent_p.L192L|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000536770.1_Silent_p.L166L|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000368373.3_Silent_p.L279L|GBA_ENST00000427500.3_Silent_p.L230L	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	279					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.L279L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	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)		Velaglucerase alfa(DB06720)	ATCCACTCAACAGCCCAGCAG	0.537									Gaucher disease type I																																								1	Substitution - coding silent(1)	kidney(1)											56.0	47.0	50.0					1																	155207294		2202	4279	6481	SO:0001819	synonymous_variant	2629	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.837G>A	1.37:g.155207294C>T			A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Silent	SNP	ENST00000327247.5	37	CCDS1102.1																																																																																				0.537	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1		NM_000157	
GRM4	2914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	34100944	34100944	+	Silent	SNP	G	G	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr6:34100944G>T	ENST00000538487.2	-	2	773	c.330C>A	c.(328-330)tcC>tcA	p.S110S	GRM4_ENST00000374181.4_Silent_p.S110S|GRM4_ENST00000374177.3_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	110					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.S110S(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGGTGTCCCTGGAGCAGGTGT	0.642																																																	2	Substitution - coding silent(2)	kidney(2)											59.0	53.0	55.0					6																	34100944		2203	4300	6503	SO:0001819	synonymous_variant	2914			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.330C>A	6.37:g.34100944G>T			B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	CCDS4787.1																																																																																				0.642	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			
HERC4	26091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	69797906	69797908	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr10:69797906_69797908delTCT	ENST00000395198.3	-	5	652_654	c.405_407delAGA	c.(403-408)tcagat>tct	p.D136del	HERC4_ENST00000373700.4_In_Frame_Del_p.D136del|HERC4_ENST00000395187.2_In_Frame_Del_p.82_83QI>L|HERC4_ENST00000412272.2_In_Frame_Del_p.D136del|HERC4_ENST00000277817.6_In_Frame_Del_p.D26del	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	136					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AATCTGGATATCTGACAAACTTT	0.276																																																	0																																										SO:0001651	inframe_deletion	26091			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.405_407delAGA	10.37:g.69797906_69797908delTCT	ENSP00000378624:p.Asp136del		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	In_Frame_Del	DEL	ENST00000395198.3	37	CCDS41533.1																																																																																				0.276	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1		NM_015601	
HLA-A	3105	hgsc.bcm.edu	37	6	29910622	29910622	+	Silent	SNP	C	C	T	rs199501996	byFrequency	TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr6:29910622C>T	ENST00000396634.1	+	4	503	c.162C>T	c.(160-162)gaC>gaT	p.D54D	HLA-A_ENST00000376809.5_Silent_p.D54D|HLA-A_ENST00000376802.2_Silent_p.D54D|HLA-A_ENST00000376806.5_Silent_p.D54D			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	54	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.D54D(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACGTGGACGACACGCAGTTCG	0.687									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							2	Substitution - coding silent(2)	prostate(2)											47.0	40.0	42.0					6																	29910622		2202	4299	6501	SO:0001819	synonymous_variant	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.162C>T	6.37:g.29910622C>T			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	CCDS34373.1																																																																																				0.687	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1		NM_002116	
ITPKB	3707	hgsc.bcm.edu	37	1	226924876	226924884	+	In_Frame_Del	DEL	CTGCCGCTG	CTGCCGCTG	-	rs147889095	byFrequency	TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	CTGCCGCTG	CTGCCGCTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:226924876_226924884delCTGCCGCTG	ENST00000272117.3	-	1	275_283	c.276_284delCAGCGGCAG	c.(274-285)agcagcggcagt>agt	p.92_95SSGS>S	ITPKB_ENST00000366784.1_In_Frame_Del_p.92_95SSGS>S|ITPKB_ENST00000429204.1_In_Frame_Del_p.92_95SSGS>S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	92					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTCACgctactgccgctgctgccgctgc	0.746														1412	0.281949	0.2428	0.317	5008	,	,		9854	0.2659		0.3141	False		,,,				2504	0.2935				Colon(84;110 1851 5306 33547)												0										530,2426		156,218,1104						0.6	1.0		dbSNP_120	7	1381,4925		379,623,2151	no	coding	ITPKB	NM_002221.3		535,841,3255	A1A1,A1R,RR		21.8998,17.9296,20.6327				1911,7351				SO:0001651	inframe_deletion	3707			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.276_284delCAGCGGCAG	1.37:g.226924885_226924893delCTGCCGCTG	ENSP00000272117:p.Ser92_Gly94del		Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	In_Frame_Del	DEL	ENST00000272117.3	37	CCDS1555.1																																																																																				0.746	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1		NM_002221	
KIAA0754	643314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39877427	39877427	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:39877427C>T	ENST00000530275.1	+	1	1277	c.1082C>T	c.(1081-1083)gCa>gTa	p.A361V	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	361										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGGCTGGCTGCATCCCAGGAT	0.408																																																	0													60.0	59.0	59.0					1																	39877427		1842	4091	5933	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1082C>T	1.37:g.39877427C>T	ENSP00000431179:p.Ala361Val		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	C	11.34	1.608876	0.28623	.	.	ENSG00000255103	ENST00000530275	D	0.86432	-2.12	5.14	2.26	0.28386	.	.	.	.	.	T	0.73434	0.3586	N	0.08118	0	0.09310	N	1	B	0.28933	0.228	B	0.27796	0.083	T	0.65142	-0.6240	9	0.87932	D	0	.	8.3379	0.32225	0.0:0.7582:0.0:0.2418	.	361	O94854	K0754_HUMAN	V	361	ENSP00000431179:A361V	ENSP00000431179:A361V	A	+	2	0	RP4-562N20.1	39650014	0.028000	0.19301	0.962000	0.40283	0.342000	0.28953	1.345000	0.33953	0.578000	0.29487	0.655000	0.94253	GCA		0.408	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1		NM_015038	
KIR3DL1	3811	broad.mit.edu	37	19	55297923	55297923	+	Intron	SNP	G	G	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:55297923G>T	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGGTGGTCAGGACAAGCCCTT	0.567																																																	0													31.0	53.0	46.0					19																	55297923		684	1531	2215	SO:0001627	intron_variant	548594			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-31066G>T	19.37:g.55297923G>T			O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37																																																																																					0.567	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_013289	
LAMA5	3911	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	60904899	60904899	+	Silent	SNP	C	C	G			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr20:60904899C>G	ENST00000252999.3	-	32	4119	c.4053G>C	c.(4051-4053)ctG>ctC	p.L1351L	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1351	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.L1351L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TCACGTCCAGCAGGGCCTGGC	0.677																																																	1	Substitution - coding silent(1)	kidney(1)											36.0	31.0	33.0					20																	60904899		2202	4293	6495	SO:0001819	synonymous_variant	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4053G>C	20.37:g.60904899C>G			Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	CCDS33502.1																																																																																				0.677	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560	
LAMC1	3915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183102612	183102612	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:183102612G>A	ENST00000258341.4	+	22	4033	c.3776G>A	c.(3775-3777)aGg>aAg	p.R1259K		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1259	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R1259K(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GAGGCCAAAAGGGCCGGTGAC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											135.0	134.0	134.0					1																	183102612		2203	4300	6503	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3776G>A	1.37:g.183102612G>A	ENSP00000258341:p.Arg1259Lys		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568797	0.28003	.	.	ENSG00000135862	ENST00000258341	T	0.20881	2.04	5.41	1.46	0.22682	.	0.214672	0.46145	N	0.000310	T	0.07593	0.0191	N	0.02916	-0.46	0.22521	N	0.999027	B	0.02656	0.0	B	0.01281	0.0	T	0.30090	-0.9990	10	0.34782	T	0.22	.	7.335	0.26605	0.5148:0.0:0.4852:0.0	.	1259	P11047	LAMC1_HUMAN	K	1259	ENSP00000258341:R1259K	ENSP00000258341:R1259K	R	+	2	0	LAMC1	181369235	1.000000	0.71417	0.099000	0.21106	0.472000	0.32918	2.890000	0.48609	0.363000	0.24346	0.563000	0.77884	AGG		0.517	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2		NM_002293	
LPA	4018	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	160969596	160969596	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr6:160969596A>G	ENST00000316300.5	-	31	5113	c.5069T>C	c.(5068-5070)cTg>cCg	p.L1690P	LPA_ENST00000447678.1_Missense_Mutation_p.L1690P			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4198	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.L1690P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCATCGCGTCAGGTTGCAGTA	0.547																																																	1	Substitution - Missense(1)	kidney(1)											88.0	95.0	93.0					6																	160969596		2203	4300	6503	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5069T>C	6.37:g.160969596A>G	ENSP00000321334:p.Leu1690Pro		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	a	14.06	2.423283	0.43020	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.70986	-0.53;-0.53	2.71	2.71	0.32032	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.80188	0.4577	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82631	-0.0362	9	0.87932	D	0	.	9.9734	0.41768	1.0:0.0:0.0:0.0	.	4198	P08519	APOA_HUMAN	P	1690	ENSP00000321334:L1690P;ENSP00000395608:L1690P	ENSP00000321334:L1690P	L	-	2	0	LPA	160889586	1.000000	0.71417	0.710000	0.30468	0.526000	0.34562	6.659000	0.74412	1.240000	0.43803	0.358000	0.22013	CTG		0.547	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1		NM_005577	
MAN2C1	4123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75654746	75654746	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr15:75654746G>A	ENST00000267978.5	-	8	992	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	MAN2C1_ENST00000563622.1_Missense_Mutation_p.R217C|MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000565683.1_Missense_Mutation_p.R316C|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R316C	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	316					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.R316C(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TCCTGGATGCGGGAGTACAGG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											46.0	42.0	43.0					15																	75654746		2197	4293	6490	SO:0001583	missense	4123			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.946C>T	15.37:g.75654746G>A	ENSP00000267978:p.Arg316Cys		H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	G	9.572	1.121182	0.20877	.	.	ENSG00000140400	ENST00000267978	T	0.80214	-1.35	5.41	4.5	0.54988	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.627245	0.16862	N	0.196477	T	0.76407	0.3983	L	0.46947	1.48	0.25480	N	0.987744	P;B;B	0.43352	0.804;0.031;0.03	B;B;B	0.40506	0.331;0.013;0.024	T	0.70153	-0.4950	10	0.87932	D	0	-12.2593	13.2867	0.60247	0.0765:0.0:0.9234:0.0	.	98;316;316	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	C	316	ENSP00000267978:R316C	ENSP00000267978:R316C	R	-	1	0	MAN2C1	73441799	0.712000	0.27916	0.221000	0.23827	0.050000	0.14768	2.902000	0.48703	1.293000	0.44690	0.556000	0.70494	CGC		0.627	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			
MAP3K10	4294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40698354	40698354	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:40698354C>A	ENST00000253055.3	+	1	704	c.416C>A	c.(415-417)gCg>gAg	p.A139E	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.A139E(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCAGTGACAGCGGAGCAGGTG	0.667																																																	1	Substitution - Missense(1)	kidney(1)											34.0	41.0	38.0					19																	40698354		2203	4300	6503	SO:0001583	missense	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.416C>A	19.37:g.40698354C>A	ENSP00000253055:p.Ala139Glu		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982629	0.53827	.	.	ENSG00000130758	ENST00000253055	D	0.82255	-1.59	4.3	3.25	0.37280	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75406	0.3845	N	0.17838	0.53	0.44085	D	0.996847	P	0.42584	0.784	P	0.46796	0.527	T	0.71873	-0.4461	10	0.30078	T	0.28	.	11.8257	0.52265	0.0:0.8214:0.1786:0.0	.	139	Q02779	M3K10_HUMAN	E	139	ENSP00000253055:A139E	ENSP00000253055:A139E	A	+	2	0	MAP3K10	45390194	0.962000	0.33011	0.982000	0.44146	0.697000	0.40408	2.972000	0.49256	1.013000	0.39391	-0.175000	0.13238	GCG		0.667	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1		NM_002446	
MAP3K3	4215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61762880	61762880	+	Silent	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr17:61762880C>T	ENST00000361733.3	+	8	960	c.640C>T	c.(640-642)Ctg>Ttg	p.L214L	MAP3K3_ENST00000584573.1_Silent_p.L245L|MAP3K3_ENST00000577395.1_Silent_p.L214L|MAP3K3_ENST00000579585.1_Silent_p.L245L|MAP3K3_ENST00000361357.3_Silent_p.L245L	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	214					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)	p.L214L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTTACAGATGCTGGATCCCCT	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											113.0	92.0	99.0					17																	61762880		2203	4300	6503	SO:0001819	synonymous_variant	4215			U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.640C>T	17.37:g.61762880C>T			B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Silent	SNP	ENST00000361733.3	37	CCDS32702.1																																																																																				0.537	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1		NM_002401	
MC3R	4159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	54824503	54824503	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr20:54824503C>A	ENST00000243911.2	+	1	716	c.604C>A	c.(604-606)Ctc>Atc	p.L202I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	202					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.L239I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CATGATGCTCCTCATGGGCAC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											195.0	163.0	174.0					20																	54824503		2203	4300	6503	SO:0001583	missense	4159				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.604C>A	20.37:g.54824503C>A	ENSP00000243911:p.Leu202Ile		Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409076	0.83340	.	.	ENSG00000124089	ENST00000243911	T	0.36878	1.23	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	T	0.53674	0.1811	L	0.49699	1.58	0.54753	D	0.999988	D	0.67145	0.996	D	0.63488	0.915	T	0.55995	-0.8052	10	0.62326	D	0.03	.	17.9664	0.89100	0.0:1.0:0.0:0.0	.	239	P41968	MC3R_HUMAN	I	202	ENSP00000243911:L202I	ENSP00000243911:L202I	L	+	1	0	MC3R	54257910	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	5.819000	0.69243	2.319000	0.78375	0.555000	0.69702	CTC		0.592	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			
MC4R	4160	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	58039328	58039328	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr18:58039328G>T	ENST00000299766.3	-	1	673	c.255C>A	c.(253-255)agC>agA	p.S85R		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	85					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)	p.S85R(1)		endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CCACAGCCAAGCTGCAGATGA	0.433																																																	1	Substitution - Missense(1)	kidney(1)											100.0	97.0	98.0					18																	58039328		2203	4300	6503	SO:0001583	missense	4160			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.255C>A	18.37:g.58039328G>T	ENSP00000299766:p.Ser85Arg		B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797177	0.70567	.	.	ENSG00000166603	ENST00000299766	T	0.03035	4.07	5.56	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.50676	-0.8800	10	0.62326	D	0.03	.	12.903	0.58135	0.0804:0.0:0.9196:0.0	.	85	P32245	MC4R_HUMAN	R	85	ENSP00000299766:S85R	ENSP00000299766:S85R	S	-	3	2	MC4R	56190308	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.048000	0.57390	1.457000	0.47850	0.655000	0.94253	AGC		0.433	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1		NM_005912	
MERTK	10461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	112767558	112767559	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr2:112767558_112767559insA	ENST00000295408.4	+	15	2251_2252	c.1994_1995insA	c.(1993-1998)ccaaagfs	p.PK665fs	MERTK_ENST00000421804.2_Frame_Shift_Ins_p.PK665fs|MERTK_ENST00000409780.1_Frame_Shift_Ins_p.PK489fs			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	665	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CAAGGCATCCCAAAGCCCATGG	0.426																																																	0																																										SO:0001589	frameshift_variant	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1997dupA	2.37:g.112767561_112767561dupA	ENSP00000295408:p.Pro665fs		Q9HBB4	Frame_Shift_Ins	INS	ENST00000295408.4	37	CCDS2094.1																																																																																				0.426	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			
MTAP	4507	broad.mit.edu;ucsc.edu	37	9	21837965	21837965	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr9:21837965T>C	ENST00000460874.2	+	5	682	c.457T>C	c.(457-459)Tgc>Cgc	p.C153R	MTAP_ENST00000380172.4_Missense_Mutation_p.C136R|RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Missense_Mutation_p.C136R					methylthioadenosine phosphorylase									p.0(1)|p.0?(1)|p.C136R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		CAGAGGAGTGTGCCATATTCC	0.428																																																	3	Whole gene deletion(2)|Substitution - Missense(1)	lung(2)|kidney(1)											267.0	268.0	268.0					9																	21837965		2203	4300	6503	SO:0001583	missense	4507			AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"""S-methyl-5'-thioadenosine phosphorylase"""	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.457T>C	9.37:g.21837965T>C	ENSP00000461932:p.Cys153Arg			Missense_Mutation	SNP	ENST00000460874.2	37		.	.	.	.	.	.	.	.	.	.	T	13.52	2.262836	0.39995	.	.	ENSG00000099810	ENST00000380172	D	0.85773	-2.03	5.54	5.54	0.83059	Nucleoside phosphorylase domain (1);	0.046669	0.85682	D	0.000000	D	0.90741	0.7094	M	0.63428	1.95	0.80722	D	1	D;P	0.89917	1.0;0.854	D;P	0.85130	0.997;0.628	D	0.90634	0.4569	10	0.46703	T	0.11	-13.3137	14.6795	0.69006	0.0:0.0:0.0:1.0	.	153;136	B4DUC8;Q13126	.;MTAP_HUMAN	R	136	ENSP00000369519:C136R	ENSP00000369519:C136R	C	+	1	0	MTAP	21827965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.164000	0.58190	2.108000	0.64289	0.533000	0.62120	TGC		0.428	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000051929.2		NM_002451	
MTMR11	10903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	149903193	149903193	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:149903193G>C	ENST00000439741.2	-	13	1499	c.1249C>G	c.(1249-1251)Ccc>Gcc	p.P417A	MTMR11_ENST00000369140.3_Missense_Mutation_p.P345A|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000492824.1_Intron|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Intron	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	417	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.P417A(1)|p.P345A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GTCAGGAAGGGATGTCCAGCT	0.547																																																	2	Substitution - Missense(2)	kidney(2)											75.0	74.0	74.0					1																	149903193		2203	4300	6503	SO:0001583	missense	10903			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1249C>G	1.37:g.149903193G>C	ENSP00000391668:p.Pro417Ala		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	CCDS53360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.197306|4.197306	0.79015|0.79015	.|.	.|.	ENSG00000014914|ENSG00000014914	ENST00000369140;ENST00000439741|ENST00000405710	D;D|.	0.92858|.	-3.12;-3.12|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Myotubularin phosphatase domain (1);|.	0.059304|.	0.64402|.	D|.	0.000001|.	T|T	0.65260|0.65260	0.2674|0.2674	M|M	0.65677|0.65677	2.01|2.01	0.80722|0.80722	D|D	1|1	D;D|P	0.76494|0.47484	0.999;0.999|0.896	D;D|P	0.69654|0.48815	0.941;0.965|0.591	T|T	0.68416|0.68416	-0.5414|-0.5414	10|8	0.02654|0.87932	T|D	1|0	.|.	19.4575|19.4575	0.94900|0.94900	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	345;417|243	A4FU01-4;A4FU01|F8W8W0	.;MTMRB_HUMAN|.	A|C	345;417|243	ENSP00000358136:P345A;ENSP00000391668:P417A|.	ENSP00000358136:P345A|ENSP00000384228:S243C	P|S	-|-	1|2	0|0	MTMR11|MTMR11	148169817|148169817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.646000|6.646000	0.74348|0.74348	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.547	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_181873	
MUC5B	727897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1258216	1258216	+	Missense_Mutation	SNP	G	G	A	rs377460516		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr11:1258216G>A	ENST00000529681.1	+	25	3177	c.3119G>A	c.(3118-3120)cGt>cAt	p.R1040H	MUC5B_ENST00000447027.1_Missense_Mutation_p.R1043H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1040	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.R1043H(1)|p.R1040H(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTTGCCACGCGTAGCCGGTCC	0.677																																																	2	Substitution - Missense(2)	kidney(2)						G	HIS/ARG	1,4269		0,1,2134	34.0	47.0	42.0		3119	4.4	0.9	11		42	0,8456		0,0,4228	no	missense	MUC5B	NM_002458.2	29	0,1,6362	AA,AG,GG		0.0,0.0234,0.0079	probably-damaging	1040/5763	1258216	1,12725	2135	4228	6363	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3119G>A	11.37:g.1258216G>A	ENSP00000436812:p.Arg1040His		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	8.727	0.915788	0.17907	2.34E-4	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.60424	0.19;0.19	4.38	4.38	0.52667	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.77212	0.4097	M	0.85462	2.755	0.09310	N	1	D;D;D	0.76494	0.973;0.999;0.999	P;P;P	0.61328	0.659;0.887;0.887	T	0.71377	-0.4611	9	0.87932	D	0	.	16.9469	0.86232	0.0:0.0:1.0:0.0	.	1040;1733;1043	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	H	1040;1043;1041;1110	ENSP00000436812:R1040H;ENSP00000415793:R1043H	ENSP00000343037:R1041H	R	+	2	0	MUC5B	1214792	0.686000	0.27661	0.935000	0.37517	0.002000	0.02628	3.944000	0.56629	1.974000	0.57490	0.462000	0.41574	CGT		0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2		XM_001126093	
NF2	4771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30074218	30074218	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr22:30074218G>A	ENST00000338641.4	+	14	1921	c.1480G>A	c.(1480-1482)Gac>Aac	p.D494N	NF2_ENST00000361166.4_Missense_Mutation_p.D494N|NF2_ENST00000334961.7_Missense_Mutation_p.D411N|NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Missense_Mutation_p.D465N|NF2_ENST00000403999.3_Missense_Mutation_p.D494N|NF2_ENST00000347330.5_Silent_p.*221*|NF2_ENST00000397789.3_Missense_Mutation_p.D494N|NF2_ENST00000361452.4_Missense_Mutation_p.D453N|NF2_ENST00000353887.4_Missense_Mutation_p.D411N|NF2_ENST00000361676.4_Missense_Mutation_p.D452N	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	494					actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.D494N(2)|p.P483fs*17(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GTTGCCTCCTGACATACCAAG	0.448			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	6	Unknown(3)|Substitution - Missense(2)|Deletion - Frameshift(1)	kidney(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)											169.0	144.0	153.0					22																	30074218		2203	4300	6503	SO:0001583	missense	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1480G>A	22.37:g.30074218G>A	ENSP00000344666:p.Asp494Asn		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244621	0.95272	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.66	5.66	0.87406	Ezrin/radixin/moesin, C-terminal (1);	0.319914	0.36338	N	0.002654	T	0.80127	0.4566	L	0.31752	0.955	0.80722	D	1	B;B;P;B;B;P;P;P	0.43094	0.012;0.01;0.692;0.02;0.418;0.799;0.692;0.799	B;B;B;B;B;P;B;B	0.44990	0.035;0.008;0.366;0.016;0.19;0.466;0.217;0.222	T	0.77558	-0.2543	9	.	.	.	.	19.7383	0.96217	0.0:0.0:1.0:0.0	.	469;465;453;494;494;452;411;494	B7Z4B6;P35240-8;P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;.;.;MERL_HUMAN;.;.;.;.	N	494;465;453;469;494;411;411;494;452;494	ENSP00000344666:D494N;ENSP00000384029:D465N;ENSP00000354897:D453N;ENSP00000384797:D494N;ENSP00000335652:D411N;ENSP00000340626:D411N;ENSP00000380891:D494N;ENSP00000355183:D452N;ENSP00000354529:D494N	.	D	+	1	0	NF2	28404218	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.775000	0.91772	2.675000	0.91044	0.655000	0.94253	GAC		0.448	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3		NM_000268	
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)												5	Unknown(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)								1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190			AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC			Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37	CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			
OMD	4958	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	95179200	95179200	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr9:95179200A>T	ENST00000375550.4	-	2	916	c.641T>A	c.(640-642)cTa>cAa	p.L214Q	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	214					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.L214Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						GAGCTGCATTAGTTTTTCCAT	0.353			T	USP6	aneurysmal bone cysts																																			Dom	yes		9	9q22.31	4958	osteomodulin		M	1	Substitution - Missense(1)	kidney(1)											107.0	106.0	106.0					9																	95179200		2203	4300	6503	SO:0001583	missense	4958			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.641T>A	9.37:g.95179200A>T	ENSP00000364700:p.Leu214Gln		Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	a	18.90	3.722203	0.68959	.	.	ENSG00000127083	ENST00000375550	T	0.30981	1.51	5.41	5.41	0.78517	.	0.000000	0.47852	D	0.000202	T	0.71970	0.3403	H	0.98646	4.29	0.35242	D	0.77787	D	0.89917	1.0	D	0.87578	0.998	D	0.87720	0.2572	10	0.87932	D	0	-11.1146	15.7425	0.77910	1.0:0.0:0.0:0.0	.	214	Q99983	OMD_HUMAN	Q	214	ENSP00000364700:L214Q	ENSP00000364700:L214Q	L	-	2	0	OMD	94219021	1.000000	0.71417	0.106000	0.21319	0.982000	0.71751	8.958000	0.93099	2.178000	0.69098	0.477000	0.44152	CTA		0.353	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1		NM_005014	
ORMDL2	29095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56213245	56213245	+	Silent	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr12:56213245C>T	ENST00000243045.5	+	3	489	c.294C>T	c.(292-294)tcC>tcT	p.S98S	SARNP_ENST00000552080.1_5'Flank|SARNP_ENST00000336133.3_5'Flank|SARNP_ENST00000444631.2_5'Flank|ORMDL2_ENST00000552672.1_Silent_p.S64S|ORMDL2_ENST00000548974.1_Silent_p.S98S|ORMDL2_ENST00000550836.1_Silent_p.S10S|RP11-762I7.5_ENST00000552719.1_Intron|RP11-762I7.5_ENST00000546837.1_Intron	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORMDL sphingolipid biosynthesis regulator 2	98					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S98S(1)		kidney(1)|lung(3)	4						TTACCTCTTCCCGCAAGTTCC	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											227.0	190.0	203.0					12																	56213245		2203	4300	6503	SO:0001819	synonymous_variant	29095			AF395707	CCDS8893.1	12q13.2	2014-06-16	2014-06-16			ENSG00000123353			16037	protein-coding gene	gene with protein product		610074	"""ORM1 (S. cerevisiae)-like 2"", ""ORM1-like 2 (S. cerevisiae)"""			12093374, 23066021	Standard	NM_014182		Approved	HSPC160, adoplin-2, MST095, MSTP095	uc001shw.1	Q53FV1		ENST00000243045.5:c.294C>T	12.37:g.56213245C>T			B2RA58|Q7Z4E5|Q8NFX0|Q9P004	Silent	SNP	ENST00000243045.5	37	CCDS8893.1																																																																																				0.512	ORMDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407934.1		NM_014182	
PBRM1	55193	broad.mit.edu	37	3	52620362	52620362	+	Intron	SNP	T	T	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr3:52620362T>C	ENST00000296302.7	-	20	3389				PBRM1_ENST00000410007.1_Intron|PBRM1_ENST00000409057.1_Intron|PBRM1_ENST00000409114.3_Intron|PBRM1_ENST00000356770.4_Intron|PBRM1_ENST00000409767.1_Intron|PBRM1_ENST00000394830.3_Intron|PBRM1_ENST00000337303.4_Intron			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTCTAAGTTTGAATACTTTA	0.284			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001627	intron_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3387+78A>G	3.37:g.52620362T>C			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Intron	SNP	ENST00000296302.7	37																																																																																					0.284	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PDCD11	22984	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	105166476	105166476	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr10:105166476G>A	ENST00000369797.3	+	7	893	c.799G>A	c.(799-801)Gct>Act	p.A267T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	267					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.A267T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TACGGCCATTGCTACTGAACA	0.453																																																	1	Substitution - Missense(1)	kidney(1)											122.0	112.0	115.0					10																	105166476		2203	4300	6503	SO:0001583	missense	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.799G>A	10.37:g.105166476G>A	ENSP00000358812:p.Ala267Thr		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139836	0.77775	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.18174	2.23	4.82	4.82	0.62117	Nucleic acid-binding, OB-fold-like (2);	0.219697	0.45867	D	0.000334	T	0.38081	0.1027	M	0.62723	1.935	0.50171	D	0.999853	D	0.69078	0.997	D	0.68192	0.956	T	0.05209	-1.0899	10	0.24483	T	0.36	-4.3392	18.2673	0.90056	0.0:0.0:1.0:0.0	.	267	Q14690	RRP5_HUMAN	T	267	ENSP00000358812:A267T	ENSP00000358812:A267T	A	+	1	0	PDCD11	105156466	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.340000	0.65958	2.400000	0.81607	0.462000	0.41574	GCT		0.453	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			
PHGDH	26227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	120254648	120254648	+	Start_Codon_SNP	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:120254648G>A	ENST00000369409.4	+	1	139	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	1					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)	p.M1I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		CTCCAGCAATGGCTTTTGCAA	0.557																																																	1	Substitution - Missense(1)	kidney(1)											80.0	78.0	79.0					1																	120254648		2203	4300	6503	SO:0001582	initiator_codon_variant	26227			BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.3G>A	1.37:g.120254648G>A	ENSP00000358417:p.Met1Ile		B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	CCDS904.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364402	0.61513	.	.	ENSG00000092621	ENST00000369409	D	0.90444	-2.67	5.22	5.22	0.72569	.	0.077039	0.85682	D	0.000000	D	0.84288	0.5439	.	.	.	0.80722	D	1	P	0.48407	0.91	B	0.38378	0.272	D	0.87900	0.2690	9	0.87932	D	0	-24.2015	15.5122	0.75793	0.0:0.0:1.0:0.0	.	1	O43175	SERA_HUMAN	I	1	ENSP00000358417:M1I	ENSP00000358417:M1I	M	+	3	0	PHGDH	120056171	1.000000	0.71417	0.999000	0.59377	0.325000	0.28411	8.091000	0.89528	2.446000	0.82766	0.561000	0.74099	ATG		0.557	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1		NM_006623	Missense_Mutation
PRB2	653247	broad.mit.edu	37	12	11546588	11546588	+	Missense_Mutation	SNP	G	G	T	rs373613020		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr12:11546588G>T	ENST00000389362.4	-	3	459	c.424C>A	c.(424-426)Cca>Aca	p.P142T	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	142	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.P142T(1)|p.P121T(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGGGGTGGTCCTTGTGGC	0.597																																																	2	Substitution - Missense(2)	kidney(2)											207.0	190.0	196.0					12																	11546588		2199	4294	6493	SO:0001583	missense	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.424C>A	12.37:g.11546588G>T	ENSP00000374013:p.Pro142Thr		O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	1.975	-0.435515	0.04669	.	.	ENSG00000121335	ENST00000389362	T	0.06933	3.24	1.42	0.324	0.15898	.	0.000000	0.34411	U	0.003992	T	0.09686	0.0238	M	0.78456	2.415	0.09310	N	1	B	0.20052	0.041	B	0.11329	0.006	T	0.29640	-1.0005	10	0.27082	T	0.32	.	6.7286	0.23371	0.0:0.0:0.7195:0.2805	.	142	P02812	PRB2_HUMAN	T	142	ENSP00000374013:P142T	ENSP00000374013:P142T	P	-	1	0	PRB2	11437855	0.024000	0.19004	0.001000	0.08648	0.177000	0.22998	0.083000	0.14871	-0.154000	0.11118	0.186000	0.17326	CCA		0.597	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2		NM_006248	
GALNT4	8693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	89917616	89917616	+	Silent	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr12:89917616C>T	ENST00000529983.2	-	1	967	c.711G>A	c.(709-711)ctG>ctA	p.L237L	RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|GALNT4_ENST00000413530.1_Intron|POC1B-GALNT4_ENST00000548729.1_Silent_p.L234L|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549035.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	237	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L237L(1)		endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						AAAGCGGTTCCAGCCAACCGG	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											72.0	74.0	73.0					12																	89917616		1934	4140	6074	SO:0001819	synonymous_variant	100528030			Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.711G>A	12.37:g.89917616C>T			B2R775|B4DMX6|O00208	Silent	SNP	ENST00000529983.2	37	CCDS53817.1																																																																																				0.483	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2		NM_003774	
PTCH1	5727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	98220440	98220440	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr9:98220440C>T	ENST00000331920.6	-	18	3322	c.3023G>A	c.(3022-3024)aGt>aAt	p.S1008N	PTCH1_ENST00000421141.1_Missense_Mutation_p.S857N|PTCH1_ENST00000430669.2_Missense_Mutation_p.S942N|PTCH1_ENST00000429896.2_Missense_Mutation_p.S857N|PTCH1_ENST00000375274.2_Missense_Mutation_p.S1007N|PTCH1_ENST00000418258.1_Missense_Mutation_p.S857N|PTCH1_ENST00000437951.1_Missense_Mutation_p.S942N	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1008					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.S1008N(2)|p.S1007N(2)|p.I963fs*2(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTTGGGGTAACTGGACAGCCC	0.562																																																	5	Substitution - Missense(4)|Deletion - Frameshift(1)	kidney(4)|central_nervous_system(1)											88.0	77.0	81.0					9																	98220440		2203	4300	6503	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3023G>A	9.37:g.98220440C>T	ENSP00000332353:p.Ser1008Asn		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	8.280	0.815289	0.16607	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.87	5.87	0.94306	.	0.078237	0.85682	D	0.000000	T	0.74160	0.3680	N	0.05031	-0.125	0.80722	D	1	B;B;B	0.30482	0.029;0.281;0.03	B;B;B	0.29524	0.063;0.103;0.071	T	0.70839	-0.4763	10	0.35671	T	0.21	-29.8289	20.5827	0.99408	0.0:1.0:0.0:0.0	.	942;1007;1008	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	N	1008;942;857;857;444;942;857;1007	ENSP00000332353:S1008N;ENSP00000389744:S942N;ENSP00000399981:S857N;ENSP00000396135:S857N;ENSP00000410287:S942N;ENSP00000414823:S857N;ENSP00000364423:S1007N	ENSP00000332353:S1008N	S	-	2	0	PTCH1	97260261	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.759000	0.62227	2.941000	0.99782	0.655000	0.94253	AGT		0.562	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2		NM_000264	
PTPRB	5787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	70983898	70983898	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr12:70983898A>C	ENST00000261266.5	-	6	1271	c.1242T>G	c.(1240-1242)aaT>aaG	p.N414K	PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000334414.6_Missense_Mutation_p.N632K|PTPRB_ENST00000551525.1_Missense_Mutation_p.N631K|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000550358.1_Missense_Mutation_p.N632K|PTPRB_ENST00000538708.1_Missense_Mutation_p.N414K|PTPRB_ENST00000538174.2_5'UTR	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	414	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.N414K(2)|p.N632K(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCACAGAATCATTGAAGAGTA	0.517											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					3	Substitution - Missense(3)	kidney(3)											134.0	135.0	135.0					12																	70983898		2009	4190	6199	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1242T>G	12.37:g.70983898A>C	ENSP00000261266:p.Asn414Lys	1126	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.871210	0.51695	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5	5.63	-2.12	0.07165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.092595	0.64402	D	0.000001	T	0.63721	0.2535	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.996;0.999;0.992;0.999;0.984	D;D;D;D;D;D	0.74348	0.979;0.969;0.982;0.951;0.983;0.951	T	0.69591	-0.5104	10	0.07482	T	0.82	.	11.9995	0.53222	0.3714:0.0:0.6286:0.0	.	414;511;631;632;414;632	F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;PTPRB_HUMAN;.	K	632;632;632;414;414;631;511	ENSP00000334928:N632K;ENSP00000448058:N632K;ENSP00000438927:N414K;ENSP00000261266:N414K;ENSP00000448349:N631K;ENSP00000446982:N511K	ENSP00000261266:N414K	N	-	3	2	PTPRB	69270165	0.551000	0.26497	0.650000	0.29550	0.417000	0.31264	0.136000	0.15974	-0.142000	0.11354	-0.256000	0.11100	AAT		0.517	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			
RPS18	6222	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33240470	33240470	+	Silent	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr6:33240470G>A	ENST00000439602.2	+	2	179	c.69G>A	c.(67-69)cgG>cgA	p.R23R	VPS52_ENST00000436044.2_5'Flank|VPS52_ENST00000478934.1_5'Flank|VPS52_ENST00000482399.1_5'Flank|RPS18_ENST00000476222.1_3'UTR|VPS52_ENST00000445902.2_5'Flank|RPS18_ENST00000474973.1_5'UTR			P62269	RS18_HUMAN	ribosomal protein S18	23					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.R23R(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						TCGATGGGCGGCGGAAAATAG	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											109.0	110.0	110.0					6																	33240470		2203	4300	6503	SO:0001819	synonymous_variant	6222			X69150	CCDS4771.1	6p21.3	2011-04-05			ENSG00000231500	ENSG00000231500		"""S ribosomal proteins"""	10401	protein-coding gene	gene with protein product		180473		D6S218E		8441687, 9582194	Standard	NM_022551		Approved	KE3, KE-3, HKE3, S18	uc003odp.1	P62269	OTTHUMG00000031053	ENST00000439602.2:c.69G>A	6.37:g.33240470G>A			P25232|Q5SUJ3|Q6IPF8	Silent	SNP	ENST00000439602.2	37	CCDS4771.1																																																																																				0.423	RPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076059.2			
RPS27	6232	broad.mit.edu	37	1	153963625	153963625	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:153963625A>C	ENST00000368567.4	+	2	79	c.41A>C	c.(40-42)gAg>gCg	p.E14A	RPS27_ENST00000392558.4_Missense_Mutation_p.E14A|RPS27_ENST00000493224.1_3'UTR	NM_001030.4	NP_001021.1	P42677	RS27_HUMAN	ribosomal protein S27	14					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|nucleus (GO:0005634)|ribosome (GO:0005840)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|zinc ion binding (GO:0008270)	p.E14A(1)		kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTCCAGAAGAGGAGAAGAGG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											68.0	59.0	62.0					1																	153963625		2202	4298	6500	SO:0001583	missense	6232			U57847	CCDS1059.1	1q21	2011-04-06	2008-08-29		ENSG00000177954	ENSG00000177954		"""S ribosomal proteins"""	10416	protein-coding gene	gene with protein product	"""metallopanstimulin 1"""	603702	"""ribosomal protein S27 (metallopanstimulin 1)"""			8908372, 8407955	Standard	NM_001030		Approved	MPS-1, MPS1, S27	uc001fdv.3	P42677	OTTHUMG00000036591	ENST00000368567.4:c.41A>C	1.37:g.153963625A>C	ENSP00000357555:p.Glu14Ala		Q5T4L6	Missense_Mutation	SNP	ENST00000368567.4	37	CCDS1059.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.871230	0.72065	.	.	ENSG00000177954	ENST00000368567;ENST00000392558	.	.	.	5.06	5.06	0.68205	.	0.102610	0.35525	N	0.003149	T	0.37625	0.1010	.	.	.	0.43667	D	0.996094	B	0.06786	0.001	B	0.12156	0.007	T	0.30357	-0.9981	8	0.33940	T	0.23	-0.9646	13.975	0.64268	1.0:0.0:0.0:0.0	.	14	P42677	RS27_HUMAN	A	14	.	ENSP00000357555:E14A	E	+	2	0	RPS27	152230249	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.402000	0.59722	2.138000	0.66242	0.454000	0.30748	GAG		0.498	RPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088997.1		NM_001030	
CDR2	1039	broad.mit.edu	37	16	22441236	22441236	+	5'UTR	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr16:22441236G>A	ENST00000569045.1	-	0	619				RRN3P3_ENST00000551766.1_RNA			Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa							cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TGTTCCTCTCGATGATGGTGT	0.507																																																	0																																										SO:0001623	5_prime_UTR_variant	100131998			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000569045.1:c.-207C>T	16.37:g.22441236G>A			A8K8A8|Q13977	RNA	SNP	ENST00000569045.1	37																																																																																					0.507	CDR2-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000430087.1			
RTTN	25914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	67872495	67872495	+	Nonsense_Mutation	SNP	C	C	A	rs200495808		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr18:67872495C>A	ENST00000255674.6	-	2	374	c.88G>T	c.(88-90)Gag>Tag	p.E30*	RTTN_ENST00000454359.1_Nonsense_Mutation_p.E30*|RTTN_ENST00000437017.1_Nonsense_Mutation_p.E30*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	30					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.E30*(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAGTTGTGCTCAATCTTGCAG	0.463																																																	1	Substitution - Nonsense(1)	kidney(1)											103.0	102.0	103.0					18																	67872495		1937	4133	6070	SO:0001587	stop_gained	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.88G>T	18.37:g.67872495C>A	ENSP00000255674:p.Glu30*		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	39	7.652274	0.98412	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	.	.	.	5.48	5.48	0.80851	.	0.141712	0.46145	D	0.000316	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.387	0.94560	0.0:1.0:0.0:0.0	.	.	.	.	X	30	.	ENSP00000255674:E30X	E	-	1	0	RTTN	66023475	1.000000	0.71417	0.833000	0.33012	0.989000	0.77384	5.810000	0.69179	2.572000	0.86782	0.655000	0.94253	GAG		0.463	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1		NM_173630	
SALL1	6299	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	51171323	51171323	+	Silent	SNP	T	T	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr16:51171323T>C	ENST00000251020.4	-	3	3708	c.3675A>G	c.(3673-3675)tcA>tcG	p.S1225S	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Silent_p.S1128S|SALL1_ENST00000541611.1_Silent_p.S48S	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1225					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S1225S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCCCACTTCCTGATCTTGCCG	0.562																																					GBM(103;1352 1446 1855 4775 8890)												1	Substitution - coding silent(1)	kidney(1)											62.0	57.0	58.0					16																	51171323		2198	4300	6498	SO:0001819	synonymous_variant	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3675A>G	16.37:g.51171323T>C			Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.562	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2		NM_002968	
SAMD8	142891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	76928376	76928376	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr10:76928376C>T	ENST00000542569.1	+	4	855	c.752C>T	c.(751-753)tCc>tTc	p.S251F	SAMD8_ENST00000372690.3_Missense_Mutation_p.S314F|SAMD8_ENST00000372687.4_Missense_Mutation_p.S251F	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	251					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.S251F(1)|p.S314F(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTTGTGACCTCCCTCTCCGTG	0.463																																																	2	Substitution - Missense(2)	kidney(2)											291.0	264.0	273.0					10																	76928376		2203	4300	6503	SO:0001583	missense	142891			AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.752C>T	10.37:g.76928376C>T	ENSP00000438042:p.Ser251Phe		Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	ENST00000542569.1	37	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324741	0.95708	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97411	0.9153	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.96716	0.9529	10	0.39692	T	0.17	-13.7453	19.5724	0.95427	0.0:1.0:0.0:0.0	.	251;251	Q96LT4-2;Q96LT4	.;SAMD8_HUMAN	F	251;314;251;251	ENSP00000391799:S251F;ENSP00000361775:S314F;ENSP00000438042:S251F;ENSP00000361772:S251F	ENSP00000361772:S251F	S	+	2	0	SAMD8	76598382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.624000	0.88883	0.650000	0.86243	TCC		0.463	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_144660	
SCFD1	23256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	31122776	31122776	+	Silent	SNP	A	A	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr14:31122776A>T	ENST00000458591.2	+	10	1064	c.837A>T	c.(835-837)gcA>gcT	p.A279A	SCFD1_ENST00000541123.1_Silent_p.A94A|SCFD1_ENST00000421551.3_Silent_p.A220A|SCFD1_ENST00000544052.2_Silent_p.A212A|SCFD1_ENST00000396629.2_Silent_p.A187A	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	279					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)	p.A279A(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CATATCAAGCATTGGTGCACG	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											133.0	126.0	128.0					14																	31122776		2203	4300	6503	SO:0001819	synonymous_variant	23256			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.837A>T	14.37:g.31122776A>T			A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Silent	SNP	ENST00000458591.2	37	CCDS9639.1																																																																																				0.348	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3		NM_182835	
SLC9A1	6548	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	27440565	27440565	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:27440565T>G	ENST00000263980.3	-	2	1140	c.565A>C	c.(565-567)Atc>Ctc	p.I189L	SLC9A1_ENST00000545949.1_Intron|SLC9A1_ENST00000374086.3_Missense_Mutation_p.I189L	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	189					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.I189L(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AAGATCAGGATGGTGCCCAGG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											82.0	70.0	74.0					1																	27440565		2203	4300	6503	SO:0001583	missense	6548			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.565A>C	1.37:g.27440565T>G	ENSP00000263980:p.Ile189Leu		B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	CCDS295.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124002	0.77436	.	.	ENSG00000090020	ENST00000263980;ENST00000374086	T;T	0.19532	2.14;2.14	5.8	5.8	0.92144	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.92784	3.345	0.80722	D	1	B;P	0.50710	0.025;0.938	B;P	0.53006	0.05;0.715	T	0.62338	-0.6875	10	0.87932	D	0	.	15.3267	0.74168	0.0:0.0:0.0:1.0	.	189;189	P19634-2;P19634	.;SL9A1_HUMAN	L	189	ENSP00000263980:I189L;ENSP00000363199:I189L	ENSP00000263980:I189L	I	-	1	0	SLC9A1	27313152	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.004000	0.88535	2.220000	0.72140	0.533000	0.62120	ATC		0.607	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2		NM_003047	
RABGGTB	5876	broad.mit.edu;hgsc.bcm.edu	37	1	76252797	76252797	+	Intron	SNP	A	A	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:76252797A>C	ENST00000319942.3	+	2	74				RABGGTB_ENST00000535300.1_Intron|RABGGTB_ENST00000496055.1_Intron|SNORD45A_ENST00000384512.1_RNA|RABGGTB_ENST00000370826.3_Intron|SNORD45B_ENST00000364617.1_RNA|SNORD45C_ENST00000383893.1_RNA	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit						cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TCTAAAGTTGATTATTACTAC	0.318																																																	0													28.0	30.0	30.0					1																	76252797		874	1991	2865	SO:0001627	intron_variant	692085			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.4-385A>C	1.37:g.76252797A>C			Q92697	RNA	SNP	ENST00000319942.3	37	CCDS669.1																																																																																				0.318	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1		NM_004582	
RABGGTB	5876	broad.mit.edu;hgsc.bcm.edu	37	1	76252833	76252833	+	Intron	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:76252833C>T	ENST00000319942.3	+	2	74				RABGGTB_ENST00000535300.1_Intron|RABGGTB_ENST00000496055.1_Intron|SNORD45A_ENST00000384512.1_RNA|RABGGTB_ENST00000370826.3_Intron|SNORD45B_ENST00000364617.1_RNA|SNORD45C_ENST00000383893.1_RNA	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit						cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						ACTCTGAGACCTGAAAATTAC	0.328																																																	0													24.0	26.0	26.0					1																	76252833		873	1991	2864	SO:0001627	intron_variant	692085			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.4-349C>T	1.37:g.76252833C>T			Q92697	RNA	SNP	ENST00000319942.3	37	CCDS669.1																																																																																				0.328	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1		NM_004582	
SLC39A1	27173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153934708	153934708	+	Silent	SNP	G	G	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:153934708G>T	ENST00000368623.3	-	2	1065	c.306C>A	c.(304-306)gcC>gcA	p.A102A	SLC39A1_ENST00000461071.1_5'Flank|SLC39A1_ENST00000310483.6_Silent_p.A102A|SLC39A1_ENST00000368621.1_Silent_p.A102A|SLC39A1_ENST00000356205.4_Silent_p.A102A|SLC39A1_ENST00000537590.1_Intron			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	102					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)	p.A102A(1)		kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		TCACGTGCAAGGCTGCCAGGG	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											145.0	152.0	149.0					1																	153934708		2203	4300	6503	SO:0001819	synonymous_variant	27173			BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.306C>A	1.37:g.153934708G>T			B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Silent	SNP	ENST00000368623.3	37	CCDS1055.1																																																																																				0.582	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1		NM_014437	
TET2	54790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	106156445	106156445	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr4:106156445T>A	ENST00000540549.1	+	3	2206	c.1346T>A	c.(1345-1347)gTg>gAg	p.V449E	TET2_ENST00000545826.1_Missense_Mutation_p.V449E|TET2_ENST00000513237.1_Missense_Mutation_p.V470E|TET2_ENST00000305737.2_Missense_Mutation_p.V449E|TET2_ENST00000413648.2_Missense_Mutation_p.V449E|TET2_ENST00000380013.4_Missense_Mutation_p.V449E|TET2_ENST00000394764.1_Missense_Mutation_p.V449E			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	449					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.V449E(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTAAGGGAAGTGAAAATAGAG	0.458			"""Mis N, F"""		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	2	Substitution - Missense(2)	kidney(2)											91.0	88.0	89.0					4																	106156445		2203	4300	6503	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1346T>A	4.37:g.106156445T>A	ENSP00000442788:p.Val449Glu		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.765809	0.49574	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.03951	3.75;4.41;3.75;4.41;4.41;3.75;3.76	5.38	2.94	0.34122	.	78.882500	0.00559	U	0.000275	T	0.05914	0.0154	L	0.27053	0.805	0.22562	N	0.998985	P;P;P	0.47677	0.718;0.718;0.899	B;B;B	0.42422	0.216;0.216;0.387	T	0.30851	-0.9964	10	0.52906	T	0.07	.	6.1398	0.20253	0.0:0.0837:0.17:0.7463	.	470;449;449	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	E	449;449;449;470;449;449;449;449	ENSP00000306705:V449E;ENSP00000442788:V449E;ENSP00000442867:V449E;ENSP00000425443:V470E;ENSP00000369351:V449E;ENSP00000378245:V449E;ENSP00000391448:V449E	ENSP00000265149:V449E	V	+	2	0	TET2	106375894	0.998000	0.40836	0.929000	0.37066	0.875000	0.50365	1.653000	0.37323	0.348000	0.23949	0.528000	0.53228	GTG		0.458	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2		NM_017628	
TREM2	54209	hgsc.bcm.edu;ucsc.edu	37	6	41126749	41126749	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr6:41126749delC	ENST00000373113.3	-	4	631	c.538delG	c.(538-540)gccfs	p.A180fs	TREM2_ENST00000338469.3_Intron|TREM2_ENST00000373122.4_Frame_Shift_Del_p.G193fs	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	180					axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.A180T(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAGATGCAGGCCAGGAGGAGA	0.567																																																	1	Substitution - Missense(1)	endometrium(1)											51.0	56.0	54.0					6																	41126749		2203	4300	6503	SO:0001589	frameshift_variant	54209			AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"""Immunoglobulin superfamily / V-set domain containing"""	17761	protein-coding gene	gene with protein product		605086	"""triggering receptor expressed on myeloid cells 2a"""			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.538delG	6.37:g.41126749delC	ENSP00000362205:p.Ala180fs		Q8N5H8|Q8WYN6	Frame_Shift_Del	DEL	ENST00000373113.3	37	CCDS4852.1																																																																																				0.567	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1		NM_018965	
TSEN34	79042	hgsc.bcm.edu;ucsc.edu	37	19	54695606	54695607	+	In_Frame_Ins	INS	-	-	CTT			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:54695606_54695607insCTT	ENST00000396383.1	+	3	589_590	c.278_279insCTT	c.(277-282)agcttc>agCTTcttc	p.94_95insF	MBOAT7_ENST00000338624.6_5'Flank|MBOAT7_ENST00000391754.1_5'Flank|MBOAT7_ENST00000474910.1_5'Flank|CTD-3093M3.1_ENST00000594382.1_lincRNA|TSEN34_ENST00000302937.4_In_Frame_Ins_p.94_95insF|TSEN34_ENST00000396388.2_In_Frame_Ins_p.94_95insF|TSEN34_ENST00000429671.2_In_Frame_Ins_p.94_95insF|MBOAT7_ENST00000245615.1_5'Flank|MBOAT7_ENST00000431666.2_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	94					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAAGAGGAGAGCTTCCAGGAGC	0.584																																					Esophageal Squamous(37;841 964 4869 42824)												0																																										SO:0001652	inframe_insertion	79042			AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"""tRNA splicing endonuclease subunits"""	15506	protein-coding gene	gene with protein product		608754	"""leukocyte receptor cluster (LRC) member 5"", ""tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)"", ""tRNA splicing endonuclease 34 homolog (S. cerevisiae)"""	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.279_281dupCTT	19.37:g.54695607_54695609dupCTT	ENSP00000379667:p.Phe94_Phe94dup		A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	In_Frame_Ins	INS	ENST00000396383.1	37	CCDS42609.1																																																																																				0.584	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1		NM_024075	
UNC5CL	222643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	41002579	41002579	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr6:41002579A>T	ENST00000373164.1	-	1	295	c.235T>A	c.(235-237)Ttc>Atc	p.F79I	UNC5CL_ENST00000470102.1_5'Flank|UNC5CL_ENST00000244565.3_Missense_Mutation_p.F79I			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	79					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)	p.F79I(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCTGGTAGAAGGCAACCATC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											228.0	194.0	205.0					6																	41002579		2203	4300	6503	SO:0001583	missense	222643			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.235T>A	6.37:g.41002579A>T	ENSP00000362258:p.Phe79Ile		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242652	0.58995	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.18338	2.22;2.22	4.66	4.66	0.58398	.	0.000000	0.53938	D	0.000054	T	0.04634	0.0126	L	0.29908	0.895	0.80722	D	1	P	0.34724	0.465	B	0.30495	0.116	T	0.33317	-0.9873	10	0.20519	T	0.43	-32.4506	10.4013	0.44231	1.0:0.0:0.0:0.0	.	79	Q8IV45	UN5CL_HUMAN	I	79	ENSP00000244565:F79I;ENSP00000362258:F79I	ENSP00000244565:F79I	F	-	1	0	UNC5CL	41110557	1.000000	0.71417	0.994000	0.49952	0.950000	0.60333	4.469000	0.60169	1.964000	0.57103	0.460000	0.39030	TTC		0.562	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1		NM_173561	
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188262	10188262	+	Missense_Mutation	SNP	A	A	T	rs119103278|rs397516442		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr3:10188262A>T	ENST00000256474.2	+	2	1245	c.405A>T	c.(403-405)ttA>ttT	p.L135F	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	135	Involved in binding to CCT complex.		L -> F (in hemangioblastoma). {ECO:0000269|PubMed:8069849}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L135fs*24(3)|p.V137fs*7(3)|p.L135F(1)|p.?fs(1)|p.N131fs*7(1)|p.L135fs*7(1)|p.E134fs*7(1)|p.L135fs*9(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AAACTGAATTATTTGTGCCAT	0.433		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	12	Deletion - Frameshift(6)|Insertion - Frameshift(5)|Substitution - Missense(1)	kidney(11)|soft_tissue(1)											214.0	199.0	204.0					3																	10188262		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.405A>T	3.37:g.10188262A>T	ENSP00000256474:p.Leu135Phe		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.891757	0.72524	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99806	-6.84	5.07	-2.96	0.05547	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.254096	0.33290	N	0.005074	D	0.98400	0.9468	L	0.43152	1.355	0.58432	D	0.999998	P	0.44776	0.843	B	0.42851	0.4	D	0.94170	0.7422	10	0.72032	D	0.01	-2.9719	3.6055	0.08041	0.2483:0.1432:0.4687:0.1398	.	135	P40337	VHL_HUMAN	F	135;53	ENSP00000256474:L135F	ENSP00000256474:L135F	L	+	3	2	VHL	10163262	0.927000	0.31430	0.316000	0.25252	0.888000	0.51559	-0.134000	0.10436	-0.460000	0.07003	0.460000	0.39030	TTA		0.433	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VPS37A	137492	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	17137538	17137538	+	Splice_Site	SNP	G	G	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr8:17137538G>T	ENST00000324849.4	+	7	1389	c.715G>T	c.(715-717)Gtg>Ttg	p.V239L	VPS37A_ENST00000521829.1_Splice_Site_p.V214L	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	239					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.V239L(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		TGTTTCTAGTGTGTCACAACT	0.323																																																	1	Substitution - Missense(1)	kidney(1)											75.0	75.0	75.0					8																	17137538		2203	4299	6502	SO:0001630	splice_region_variant	137492				CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"""hepatocellular carcinoma related protein 1"""	609927	"""vacuolar protein sorting 37A (yeast)"", ""polyglutamine binding protein 2"""	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.714-1G>T	8.37:g.17137538G>T			Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	ENST00000324849.4	37	CCDS6001.1	.	.	.	.	.	.	.	.	.	.	G	5.503	0.277797	0.10403	.	.	ENSG00000155975	ENST00000324849;ENST00000521829;ENST00000521976	T;T;T	0.75938	-0.98;-0.98;-0.98	5.0	1.95	0.26073	Modifier of rudimentary, Modr (1);	0.548513	0.19321	N	0.117121	T	0.50480	0.1618	N	0.16266	0.395	0.80722	D	1	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.09377	0.001;0.003;0.004	T	0.25502	-1.0130	10	0.17832	T	0.49	-5.009	4.3479	0.11141	0.1983:0.0:0.4916:0.3101	.	16;214;239	B3KW95;Q8NEZ2-2;Q8NEZ2	.;.;VP37A_HUMAN	L	239;214;12	ENSP00000318629:V239L;ENSP00000429680:V214L;ENSP00000429858:V12L	ENSP00000318629:V239L	V	+	1	0	VPS37A	17181909	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.211000	0.32382	0.765000	0.33221	0.585000	0.79938	GTG		0.323	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2		NM_152415	Missense_Mutation
WDR62	284403	broad.mit.edu;hgsc.bcm.edu	37	19	36574074	36574074	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:36574074G>A	ENST00000270301.7	+	11	1481	c.1481G>A	c.(1480-1482)gGg>gAg	p.G494E	WDR62_ENST00000401500.2_Missense_Mutation_p.G494E			O43379	WDR62_HUMAN	WD repeat domain 62	494					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.G494E(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGAAAGCCGGGGTGCGGGTC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											52.0	47.0	49.0					19																	36574074		2203	4300	6503	SO:0001583	missense	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1481G>A	19.37:g.36574074G>A	ENSP00000270301:p.Gly494Glu		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206318	0.95033	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.62941	1.05;-0.01	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	L	0.37750	1.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73920	-0.3830	10	0.66056	D	0.02	-39.7582	17.3615	0.87351	0.0:0.0:1.0:0.0	.	494;494	O43379-4;O43379	.;WDR62_HUMAN	E	494	ENSP00000384792:G494E;ENSP00000270301:G494E	ENSP00000270301:G494E	G	+	2	0	WDR62	41265914	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.235000	0.95353	2.709000	0.92574	0.655000	0.94253	GGG		0.592	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1		NM_015671	
ZNF148	7707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	124951653	124951653	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr3:124951653delA	ENST00000360647.4	-	9	2402	c.1917delT	c.(1915-1917)aatfs	p.N639fs	ZNF148_ENST00000485866.1_Frame_Shift_Del_p.N639fs|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.N639fs|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Frame_Shift_Del_p.N639fs|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	639					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ATGCTGGCTGATTTGGGAGGG	0.453																																																	0													165.0	176.0	172.0					3																	124951653		2203	4300	6503	SO:0001589	frameshift_variant	7707			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1917delT	3.37:g.124951653delA	ENSP00000353863:p.Asn639fs		D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Frame_Shift_Del	DEL	ENST00000360647.4	37	CCDS3031.1																																																																																				0.453	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4		NM_021964	
