#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AAGAB	79719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	67524205	67524205	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr15:67524205C>T	ENST00000261880.5	-	5	586	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	AAGAB_ENST00000561452.1_Missense_Mutation_p.R52Q|AAGAB_ENST00000542650.1_Missense_Mutation_p.R52Q	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	161					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R161Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TTGGACAATTCGCTTTACTCC	0.373																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											253.0	240.0	244.0					15																	67524205		1919	4136	6055	SO:0001583	missense	79719			AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.482G>A	15.37:g.67524205C>T	ENSP00000261880:p.Arg161Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Missense_Mutation	SNP	ENST00000261880.5	37	CCDS42050.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732569	0.89482	.	.	ENSG00000103591	ENST00000261880;ENST00000542650	T;T	0.70164	-0.35;-0.46	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	M	0.69823	2.125	0.80722	D	1	D	0.58970	0.984	P	0.48189	0.57	T	0.78094	-0.2338	10	0.72032	D	0.01	-12.3836	18.9506	0.92640	0.0:1.0:0.0:0.0	.	161	Q6PD74	AAGAB_HUMAN	Q	161;52	ENSP00000261880:R161Q;ENSP00000440735:R52Q	ENSP00000261880:R161Q	R	-	2	0	AAGAB	65311259	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	7.225000	0.78051	2.699000	0.92147	0.650000	0.86243	CGA		0.373	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1		NM_024666	
ACACA	31	broad.mit.edu;ucsc.edu	37	17	35487038	35487038	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr17:35487038A>G	ENST00000394406.2	-	46	5865	c.5675T>C	c.(5674-5676)gTt>gCt	p.V1892A	ACACA_ENST00000353139.5_Missense_Mutation_p.V1929A|ACACA_ENST00000335166.5_Missense_Mutation_p.V1814A|ACACA_ENST00000360679.3_Missense_Mutation_p.V1834A|ACACA_ENST00000361253.5_Missense_Mutation_p.V18A	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1892	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.V1929A(1)|p.V1834A(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GACAGTGAAAACCCCTTCAAA	0.552																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												2	Substitution - Missense(2)	kidney(2)											191.0	162.0	172.0					17																	35487038		2203	4300	6503	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5675T>C	17.37:g.35487038A>G	ENSP00000377928:p.Val1892Ala	Somatic		WXS	Illumina GAIIx	Phase_I	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	A	30	5.051732	0.93793	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	D;D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59;-4.59	5.83	5.83	0.93111	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	M	0.68952	2.095	0.80722	D	1	P;D;D;D	0.63046	0.951;0.992;0.97;0.963	P;D;P;P	0.64595	0.769;0.927;0.858;0.777	D	0.98425	1.0579	10	0.41790	T	0.15	-18.5243	16.1846	0.81942	1.0:0.0:0.0:0.0	.	591;1929;1892;1834	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	A	1929;1834;1892;1916;1814;591;18	ENSP00000344789:V1929A;ENSP00000353898:V1834A;ENSP00000377928:V1892A;ENSP00000335323:V1814A;ENSP00000354565:V18A	ENSP00000335323:V1814A	V	-	2	0	ACACA	32561151	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.339000	0.96797	2.229000	0.72834	0.533000	0.62120	GTT		0.552	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836	
ARHGEF2	9181	broad.mit.edu	37	1	155932492	155932492	+	Silent	SNP	C	C	G	rs75834511	byFrequency	TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:155932492C>G	ENST00000361247.4	-	9	1092	c.993G>C	c.(991-993)gcG>gcC	p.A331A	ARHGEF2_ENST00000313667.4_Silent_p.A330A|ARHGEF2_ENST00000462460.2_Silent_p.A376A|ARHGEF2_ENST00000368315.4_Silent_p.A332A|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Silent_p.A303A|ARHGEF2_ENST00000368316.1_Silent_p.A303A	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	331	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A303A(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACATCTGCTCCGCACTAGGAC	0.537																																					Melanoma(178;35 2768 6610 28839)												1	Substitution - coding silent(1)	kidney(1)											71.0	69.0	69.0					1																	155932492		2203	4300	6503	SO:0001819	synonymous_variant	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.993G>C	1.37:g.155932492C>G		Somatic		WXS	Illumina GAIIx	Phase_I	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	ENST00000361247.4	37	CCDS53376.1																																																																																				0.537	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2		NM_004723	
ATP8B3	148229	broad.mit.edu	37	19	1792020	1792020	+	Missense_Mutation	SNP	G	G	A	rs185225335		TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr19:1792020G>A	ENST00000310127.6	-	19	2408	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	ATP8B3_ENST00000525591.1_Missense_Mutation_p.R677W|ATP8B3_ENST00000539485.1_Missense_Mutation_p.R724W	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	724					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R724W(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTGTGCCCGGTTCTGCAGC	0.677													.|||	1	0.000199681	0.0	0.0	5008	,	,		13422	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											13.0	14.0	14.0					19																	1792020		1939	4121	6060	SO:0001583	missense	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2170C>T	19.37:g.1792020G>A	ENSP00000311336:p.Arg724Trp	Somatic		WXS	Illumina GAIIx	Phase_I	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	CCDS45901.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.20	3.054941	0.55325	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.81078	0.37;-1.45;-1.45	4.58	4.58	0.56647	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.067746	0.64402	D	0.000010	D	0.93969	0.8069	H	0.98936	4.375	0.38517	D	0.94862	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97456	1.0031	10	0.87932	D	0	.	15.9045	0.79412	0.0:0.0:1.0:0.0	.	724;677	O60423;Q7Z485	AT8B3_HUMAN;.	W	724;724;677	ENSP00000311336:R724W;ENSP00000443574:R724W;ENSP00000437115:R677W	ENSP00000311336:R724W	R	-	1	2	ATP8B3	1743020	0.725000	0.28048	0.990000	0.47175	0.112000	0.19704	2.194000	0.42668	2.089000	0.63090	0.555000	0.69702	CGG		0.677	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1		NM_138813	
B3GNT6	192134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	76750646	76750646	+	Silent	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr11:76750646C>T	ENST00000533140.1	+	2	189	c.51C>T	c.(49-51)ctC>ctT	p.L17L	B3GNT6_ENST00000421061.1_Silent_p.L17L|B3GNT6_ENST00000354301.5_Silent_p.L17L			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)	p.L17L(2)		central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						TGGCCTGCCTCCTGGTGGGCG	0.642											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - coding silent(2)	kidney(2)											86.0	90.0	89.0					11																	76750646		2017	4170	6187	SO:0001819	synonymous_variant	192134			AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.51C>T	11.37:g.76750646C>T		Somatic	1170	WXS	Illumina HiSeq	Phase_I	Q4TTN0	Silent	SNP	ENST00000533140.1	37	CCDS53681.1																																																																																				0.642	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2		NM_138706	
BAZ2B	29994	broad.mit.edu;ucsc.edu	37	2	160206389	160206389	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr2:160206389G>C	ENST00000392783.2	-	28	5188	c.4693C>G	c.(4693-4695)Cga>Gga	p.R1565G	BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1531G|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1529G|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1465G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R1565G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CAGGGTGTTCGTGGCAAAAGA	0.458																																																	1	Substitution - Missense(1)	kidney(1)											195.0	192.0	193.0					2																	160206389		2105	4234	6339	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4693C>G	2.37:g.160206389G>C	ENSP00000376534:p.Arg1565Gly	Somatic		WXS	Illumina GAIIx	Phase_I	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	8.572	0.880273	0.17467	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.67698	-0.28;-0.25;-0.28;-0.28	6.17	5.03	0.67393	.	0.185472	0.25546	U	0.029938	T	0.76285	0.3966	M	0.66939	2.045	0.41069	D	0.985439	P;D	0.59357	0.787;0.985	P;P	0.57244	0.469;0.816	T	0.79014	-0.1976	10	0.87932	D	0	-13.7468	13.3736	0.60726	0.0:0.0:0.2569:0.7431	.	1529;1565	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	G	1529;1565;1531;1465	ENSP00000376533:R1529G;ENSP00000376534:R1565G;ENSP00000348087:R1531G;ENSP00000339670:R1465G	ENSP00000339670:R1465G	R	-	1	2	BAZ2B	159914635	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.935000	0.56560	1.162000	0.42619	-0.262000	0.10625	CGA		0.458	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			
C10orf76	79591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	103789421	103789421	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr10:103789421A>G	ENST00000370033.4	-	5	507	c.388T>C	c.(388-390)Ttt>Ctt	p.F130L	C10orf76_ENST00000311122.5_Missense_Mutation_p.F130L	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	130						integral component of membrane (GO:0016021)		p.F130L(2)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GCCTTGTCAAAGCCCATCAGC	0.493																																																	2	Substitution - Missense(2)	kidney(2)											146.0	144.0	145.0					10																	103789421		2071	4222	6293	SO:0001583	missense	79591			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.388T>C	10.37:g.103789421A>G	ENSP00000359050:p.Phe130Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.841866	0.91197	.	.	ENSG00000120029	ENST00000370033;ENST00000311122	T;T	0.65364	-0.15;2.35	5.77	5.77	0.91146	.	0.131902	0.64402	D	0.000001	T	0.74581	0.3735	L	0.56769	1.78	0.80722	D	1	P;D	0.71674	0.894;0.998	P;D	0.76071	0.495;0.987	T	0.70414	-0.4878	10	0.20519	T	0.43	-4.2734	16.1403	0.81517	1.0:0.0:0.0:0.0	.	130;130	Q5T2E6;Q5T2E7	CJ076_HUMAN;.	L	130	ENSP00000359050:F130L;ENSP00000312408:F130L	ENSP00000312408:F130L	F	-	1	0	C10orf76	103779411	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.238000	0.95380	2.210000	0.71456	0.454000	0.30748	TTT		0.493	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1		NM_024541	
C21orf59	56683	hgsc.bcm.edu;ucsc.edu	37	21	33979947	33979947	+	Intron	SNP	A	A	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr21:33979947A>G	ENST00000290155.3	-	3	998				C21orf59_ENST00000540881.1_Intron|AP000275.65_ENST00000553001.1_Intron|C21orf59_ENST00000382549.4_Intron	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59							cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						TGCATCATTTAAAAAAGCCAA	0.358																																																	0													116.0	120.0	119.0					21																	33979947		2201	4299	6500	SO:0001627	intron_variant	56683			AF282851	CCDS13617.1	21q22.11	2014-02-03	2003-07-22		ENSG00000159079	ENSG00000159079			1301	protein-coding gene	gene with protein product		615494	"""chromosome 21 open reading frame 48"""	C21orf48		24094744	Standard	NM_021254		Approved	FLJ20467, FBB18, CILD26	uc002yqc.3	P57076	OTTHUMG00000179510	ENST00000290155.3:c.375+11T>C	21.37:g.33979947A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q53FH0	RNA	SNP	ENST00000290155.3	37	CCDS13617.1																																																																																				0.358	C21orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139431.1		NM_021254	
TRABD2A	129293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	85066361	85066361	+	Silent	SNP	G	G	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr2:85066361G>T	ENST00000409520.2	-	4	945	c.903C>A	c.(901-903)atC>atA	p.I301I	TRABD2A_ENST00000409133.1_Silent_p.I301I|TRABD2A_ENST00000335459.5_Silent_p.I252I	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	301					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)	p.I252I(1)|p.I301I(1)									TCCGCTTGTAGATCAGCTCCC	0.507																																																	2	Substitution - coding silent(2)	kidney(2)											79.0	79.0	79.0					2																	85066361		1913	4122	6035	SO:0001819	synonymous_variant	0			BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.903C>A	2.37:g.85066361G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DKK8|I6UMB9	Silent	SNP	ENST00000409520.2	37																																																																																					0.507	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001080824	
C4BPA	722	broad.mit.edu;ucsc.edu	37	1	207304992	207304992	+	Missense_Mutation	SNP	C	C	T	rs200186980		TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:207304992C>T	ENST00000367070.3	+	8	1185	c.991C>T	c.(991-993)Cgc>Tgc	p.R331C		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	331	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.R331C(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GTTAAGGTACCGCTGTCATCC	0.443																																																	1	Substitution - Missense(1)	kidney(1)											195.0	140.0	159.0					1																	207304992		2203	4300	6503	SO:0001583	missense	722			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.991C>T	1.37:g.207304992C>T	ENSP00000356037:p.Arg331Cys	Somatic		WXS	Illumina GAIIx	Phase_I	Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.677984	0.47886	.	.	ENSG00000123838	ENST00000367070	T	0.65916	-0.18	4.66	-9.31	0.00646	Complement control module (2);Sushi/SCR/CCP (3);	4.082580	0.00357	N	0.000039	T	0.62356	0.2421	L	0.43152	1.355	0.09310	N	1	D	0.71674	0.998	D	0.63703	0.917	T	0.69128	-0.5227	10	0.59425	D	0.04	.	2.2178	0.03964	0.4868:0.1242:0.0917:0.2973	.	331	P04003	C4BPA_HUMAN	C	331	ENSP00000356037:R331C	ENSP00000356037:R331C	R	+	1	0	C4BPA	205371615	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-4.151000	0.00285	-2.115000	0.00831	0.655000	0.94253	CGC		0.443	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			
CCDC149	91050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	24810062	24810062	+	Silent	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr4:24810062G>A	ENST00000389609.4	-	13	1682	c.1539C>T	c.(1537-1539)gaC>gaT	p.D513D	CCDC149_ENST00000428116.2_3'UTR|CCDC149_ENST00000502801.1_3'UTR|CCDC149_ENST00000504487.1_Silent_p.D513D	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	458								p.D513D(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TCCCTTTGCCGTCTTCCGGTG	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											24.0	25.0	25.0					4																	24810062		692	1591	2283	SO:0001819	synonymous_variant	91050				CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.1539C>T	4.37:g.24810062G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Silent	SNP	ENST00000389609.4	37	CCDS33967.2																																																																																				0.617	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1		NM_173463	
CCDC18	343099	hgsc.bcm.edu;ucsc.edu	37	1	93657661	93657661	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:93657661G>C	ENST00000343253.7	+	5	1069	c.567G>C	c.(565-567)ttG>ttC	p.L189F	CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.L307F|CCDC18_ENST00000401026.3_Missense_Mutation_p.L189F			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	189										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ATAAAGTTTTGAGGTAAATAT	0.333																																																	0													59.0	56.0	57.0					1																	93657661		1790	4065	5855	SO:0001583	missense	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.567G>C	1.37:g.93657661G>C	ENSP00000343377:p.Leu189Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.76|16.76	3.212094|3.212094	0.58452|0.58452	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479|ENST00000370276	.|.	.|.	.|.	5.2|5.2	3.34|3.34	0.38264|0.38264	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|.	0.46639|.	0.1403|.	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	T|.	0.42310|.	-0.9459|.	9|.	0.72032|.	D|.	0.01|.	.|.	8.8941|8.8941	0.35453|0.35453	0.1748:0.0:0.8252:0.0|0.1748:0.0:0.8252:0.0	.|.	307|.	G3V388|.	.|.	F|S	189;189;307|243	.|.	ENSP00000343377:L189F|.	L|X	+|+	3|2	2|2	CCDC18|CCDC18	93430249|93430249	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.895000|0.895000	0.52256|0.52256	0.536000|0.536000	0.23129|0.23129	0.604000|0.604000	0.29930|0.29930	-0.259000|-0.259000	0.10710|0.10710	TTG|TGA		0.333	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1		NM_206886	
CD3E	916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118185183	118185184	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr11:118185183_118185184CC>AT	ENST00000361763.4	+	8	832_833	c.541_542CC>AT	c.(541-543)CCa>ATa	p.P181I	CD3E_ENST00000528600.1_Missense_Mutation_p.P175I	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	181	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)	p.P181T(1)|p.P181L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GGAGAGGCCACCACCTGTTCCC	0.559																																																	2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	916			X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"""CD molecules"""	1674	protein-coding gene	gene with protein product		186830	"""CD3e antigen, epsilon polypeptide (TiT3 complex)"""				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	Exception_encountered	11.37:g.118185183_118185184delinsAT	ENSP00000354566:p.Pro181Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8K997	Missense_Mutation	SNP	ENST00000361763.4	37	CCDS31685.1																																																																																				0.559	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1		NM_000733	
CDC20B	166979	broad.mit.edu;hgsc.bcm.edu	37	5	54415634	54415634	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr5:54415634A>C	ENST00000381375.2	-	11	1599	c.1454T>G	c.(1453-1455)tTt>tGt	p.F485C	CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000322374.6_Missense_Mutation_p.F443C|CDC20B_ENST00000334206.5_3'UTR			Q86Y33	CD20B_HUMAN	cell division cycle 20B	485								p.?(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CTTACCAAAAAACCCACCTGA	0.463																																																	1	Unknown(1)	kidney(1)											130.0	120.0	123.0					5																	54415634		2203	4300	6503	SO:0001583	missense	166979			AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1454T>G	5.37:g.54415634A>C	ENSP00000370781:p.Phe485Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751505	0.69533	.	.	ENSG00000164287	ENST00000381375;ENST00000322374	T;T	0.63255	-0.03;-0.03	4.7	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.255261	0.27846	N	0.017601	T	0.75459	0.3852	M	0.78285	2.405	0.80722	D	1	D;D	0.63880	0.992;0.993	P;P	0.59948	0.789;0.866	T	0.79412	-0.1814	10	0.87932	D	0	-26.9515	12.5559	0.56252	1.0:0.0:0.0:0.0	.	443;485	Q86Y33-3;Q86Y33	.;CD20B_HUMAN	C	485;443	ENSP00000370781:F485C;ENSP00000315720:F443C	ENSP00000315720:F443C	F	-	2	0	CDC20B	54451391	0.808000	0.29022	0.850000	0.33497	0.996000	0.88848	3.368000	0.52357	1.973000	0.57446	0.533000	0.62120	TTT		0.463	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1		NM_152623	
CDC73	79577	broad.mit.edu;ucsc.edu	37	1	193181526	193181526	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:193181526G>A	ENST00000367435.3	+	13	1257	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	358	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.R358Q(1)|p.R358L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ATAGGATCTCGAACACCCATT	0.279																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											122.0	136.0	131.0					1																	193181526		2203	4299	6502	SO:0001583	missense	79577			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1073G>A	1.37:g.193181526G>A	ENSP00000356405:p.Arg358Gln	Somatic		WXS	Illumina GAIIx	Phase_I	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	36	5.633362	0.96682	.	.	ENSG00000134371	ENST00000367435	T	0.69435	-0.4	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.81675	-0.0825	10	0.32370	T	0.25	-8.1698	20.6593	0.99626	0.0:0.0:1.0:0.0	.	358	Q6P1J9	CDC73_HUMAN	Q	358	ENSP00000356405:R358Q	ENSP00000356405:R358Q	R	+	2	0	CDC73	191448149	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.732000	0.91534	2.885000	0.99019	0.655000	0.94253	CGA		0.279	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2		NM_024529	
CDH7	1005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	63530053	63530053	+	Silent	SNP	C	C	T	rs138789170	byFrequency	TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr18:63530053C>T	ENST00000397968.2	+	11	2190	c.1764C>T	c.(1762-1764)gaC>gaT	p.D588D	CDH7_ENST00000323011.3_Silent_p.D588D|CDH7_ENST00000536984.2_Silent_p.D588D|RP11-389J22.1_ENST00000581987.1_RNA	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	588	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D588D(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GTGATGCTGACGGCGTAGCCC	0.522													C|||	6	0.00119808	0.0008	0.0	5008	,	,		19261	0.0		0.003	False		,,,				2504	0.002																2	Substitution - coding silent(2)	kidney(2)						C	,	8,4398	14.3+/-33.2	0,8,2195	120.0	94.0	103.0		1764,1764	-7.2	0.0	18	dbSNP_134	103	41,8559	27.9+/-77.7	0,41,4259	no	coding-synonymous,coding-synonymous	CDH7	NM_004361.2,NM_033646.1	,	0,49,6454	TT,TC,CC		0.4767,0.1816,0.3767	,	588/786,588/786	63530053	49,12957	2203	4300	6503	SO:0001819	synonymous_variant	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1764C>T	18.37:g.63530053C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H157	Silent	SNP	ENST00000397968.2	37	CCDS11993.1																																																																																				0.522	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2		NM_033646	
CHD6	84181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	40126106	40126106	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr20:40126106T>C	ENST00000373233.3	-	8	1187	c.1010A>G	c.(1009-1011)gAg>gGg	p.E337G	CHD6_ENST00000373222.3_3'UTR|CHD6_ENST00000309279.7_Missense_Mutation_p.E337G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	337	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.E337G(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTTTTCGAGCTCTTCCATTGT	0.408																																																	1	Substitution - Missense(1)	kidney(1)											131.0	114.0	119.0					20																	40126106		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1010A>G	20.37:g.40126106T>C	ENSP00000362330:p.Glu337Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	34|34	5.394622|5.394622	0.96009|0.96009	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	T;T|.	0.74002|.	-0.8;-0.8|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (1);|.	0.000000|.	0.56097|.	D|.	0.000034|.	T|T	0.78805|0.78805	0.4341|0.4341	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	P|.	0.51653|.	0.947|.	P|.	0.60789|.	0.879|.	T|T	0.81475|0.81475	-0.0916|-0.0916	10|5	0.87932|.	D|.	0|.	-22.29|-22.29	15.4125|15.4125	0.74937|0.74937	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	337|.	Q8TD26|.	CHD6_HUMAN|.	G|G	337|40	ENSP00000362330:E337G;ENSP00000308684:E337G|.	ENSP00000308684:E337G|.	E|S	-|-	2|1	0|0	CHD6|CHD6	39559520|39559520	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.997000|7.997000	0.88414|0.88414	2.035000|2.035000	0.60131|0.60131	0.533000|0.533000	0.62120|0.62120	GAG|AGC		0.408	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			
DGKK	139189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	50147057	50147057	+	RNA	SNP	G	G	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chrX:50147057G>T	ENST00000376025.2	-	0	1127							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.I152I(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTTCACAGATGATGGCATCTC	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											82.0	75.0	77.0					X																	50147057		1973	4141	6114			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50147057G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RP91	Silent	SNP	ENST00000376025.2	37																																																																																					0.443	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1		NM_001013742	
DHX37	57647	broad.mit.edu	37	12	125473494	125473494	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr12:125473494delG	ENST00000308736.2	-	1	173	c.75delC	c.(73-75)cccfs	p.P25fs		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	25							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGGCGGCTCGGGGGGGCCCT	0.711																																																	0										13,3057		3,7,1525	10.0	14.0	13.0			3.8	0.9	12		13	49,6627		18,13,3307	no	frameshift	DHX37	NM_032656.3		21,20,4832	A1A1,A1R,RR		0.734,0.4235,0.6362			125473494	62,9684	1765	3777	5542	SO:0001589	frameshift_variant	57647			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.75delC	12.37:g.125473494delG	ENSP00000311135:p.Pro25fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q9BUI7|Q9P211	Frame_Shift_Del	DEL	ENST00000308736.2	37	CCDS9261.1																																																																																				0.711	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032656	
ENTPD2	954	broad.mit.edu	37	9	139944970	139944970	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr9:139944970delG	ENST00000355097.2	-	6	842	c.795delC	c.(793-795)tgcfs	p.C265fs	RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000460614.1_5'Flank|ENTPD2_ENST00000312665.5_Frame_Shift_Del_p.C265fs	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	265					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCTCGGCCAGCAGGGGTGGA	0.642											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													27.0	24.0	25.0					9																	139944970		2197	4296	6493	SO:0001589	frameshift_variant	954			U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.795delC	9.37:g.139944970delG	ENSP00000347213:p.Cys265fs	Somatic	1652	WXS	Illumina GAIIx	Phase_I	O15464|Q5SPY6|Q5SPY7	Frame_Shift_Del	DEL	ENST00000355097.2	37	CCDS7026.1																																																																																				0.642	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1		NM_203468	
EXOSC10	5394	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11128077	11128077	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:11128077C>G	ENST00000376936.4	-	24	2664	c.2615G>C	c.(2614-2616)gGa>gCa	p.G872A	RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000544779.1_3'UTR|EXOSC10_ENST00000304457.7_Missense_Mutation_p.G847A	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	872					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G872A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GTCTGACTTTCCAGTTGGAAA	0.527																																					Colon(179;105 1987 14326 27364 29542)												1	Substitution - Missense(1)	kidney(1)											140.0	134.0	136.0					1																	11128077		2203	4300	6503	SO:0001583	missense	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.2615G>C	1.37:g.11128077C>G	ENSP00000366135:p.Gly872Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359810	0.24598	.	.	ENSG00000171824	ENST00000376936;ENST00000304457	.	.	.	5.25	2.3	0.28687	.	0.228803	0.44285	D	0.000467	T	0.32466	0.0830	N	0.19112	0.55	0.40617	D	0.981729	B;B	0.28378	0.204;0.209	B;B	0.27076	0.076;0.063	T	0.11591	-1.0581	9	0.46703	T	0.11	-10.3441	6.3365	0.21298	0.0:0.5538:0.2873:0.159	.	847;872	Q01780-2;Q01780	.;EXOSX_HUMAN	A	872;847	.	ENSP00000307307:G847A	G	-	2	0	EXOSC10	11050664	0.979000	0.34478	0.011000	0.14972	0.138000	0.21146	2.890000	0.48609	0.704000	0.31869	-0.302000	0.09304	GGA		0.527	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1		NM_001001998	
FAM174B	400451	broad.mit.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	TGGAGC	-	rs66488707|rs111725167|rs68056278	byFrequency	TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	TGGAGC	TGGAGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr15:93198679_93198684delTGGAGC	ENST00000327355.5	-	1	504_509	c.206_211delGCTCCA	c.(205-213)agctccaac>aac	p.SS69del	FAM174B_ENST00000555748.1_5'Flank|FAM174B_ENST00000555696.1_5'Flank	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	69						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						CCACTGCTGTTGGAGCTGGAGCTGCC	0.714														4884	0.97524	0.9092	0.9942	5008	,	,		6551	1.0		1.0	False		,,,				2504	1.0																0										1931,417		927,77,170						2.2	1.0		dbSNP_130	8	5234,70		2614,6,32	no	coding	FAM174B	NM_207446.2		3541,83,202	A1A1,A1R,RR		1.3198,17.7598,6.3643				7165,487				SO:0001651	inframe_deletion	400451				CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.206_211delGCTCCA	15.37:g.93198685_93198690delTGGAGC	ENSP00000329040:p.Ser69_Ser70del	Somatic		WXS	Illumina GAIIx	Phase_I	Q3ZCR9|Q8NBH7	In_Frame_Del	DEL	ENST00000327355.5	37	CCDS45355.1																																																																																				0.714	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1		NM_207446	
MTFR1L	56181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26153147	26153147	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:26153147C>A	ENST00000374301.3	+	5	589	c.281C>A	c.(280-282)cCt>cAt	p.P94H	MTFR1L_ENST00000374303.2_Missense_Mutation_p.P94H|MTFR1L_ENST00000469815.1_Intron|MTFR1L_ENST00000474295.1_Missense_Mutation_p.P94H|MTFR1L_ENST00000526894.1_Missense_Mutation_p.P94H|MTFR1L_ENST00000466284.1_Missense_Mutation_p.P94H|MTFR1L_ENST00000524618.1_5'UTR|MTFR1L_ENST00000374300.3_Missense_Mutation_p.P94H|MTFR1L_ENST00000374307.5_Missense_Mutation_p.P94H	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like	94								p.P94H(1)									AAACCCAGCCCTCTGATTGTC	0.597																																																	1	Substitution - Missense(1)	kidney(1)											130.0	134.0	132.0					1																	26153147		2011	4177	6188	SO:0001583	missense	0				CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"""family with sequence similarity 54, member B"""	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.281C>A	1.37:g.26153147C>A	ENSP00000363419:p.Pro94His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Missense_Mutation	SNP	ENST00000374301.3	37	CCDS41284.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432366	0.83776	.	.	ENSG00000117640	ENST00000424294;ENST00000374303;ENST00000529116;ENST00000474295;ENST00000526894;ENST00000374307;ENST00000525713;ENST00000374301;ENST00000526158;ENST00000374300;ENST00000466284	T;T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.8	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.989;0.999;0.999;0.999	T	0.57619	-0.7780	10	0.33940	T	0.23	-3.356	14.6251	0.68616	0.0:0.9306:0.0:0.0694	.	127;94;94;94	B4DRE5;Q9H019-3;Q9H019-2;Q9H019	.;.;.;FA54B_HUMAN	H	94	ENSP00000390841:P94H;ENSP00000363421:P94H;ENSP00000434038:P94H;ENSP00000435461:P94H;ENSP00000432227:P94H;ENSP00000363426:P94H;ENSP00000434120:P94H;ENSP00000363419:P94H;ENSP00000431278:P94H;ENSP00000363418:P94H;ENSP00000434751:P94H	ENSP00000363418:P94H	P	+	2	0	FAM54B	26025734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	1.461000	0.47929	0.655000	0.94253	CCT		0.597	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019319.1		NM_019557	
FBXO39	162517	broad.mit.edu;ucsc.edu	37	17	6684202	6684202	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr17:6684202A>C	ENST00000321535.4	+	2	1145	c.1015A>C	c.(1015-1017)Act>Cct	p.T339P		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	339								p.T339P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CTTCCGGCACACTCTGCAGGT	0.547																																																	1	Substitution - Missense(1)	kidney(1)											52.0	50.0	50.0					17																	6684202		2203	4300	6503	SO:0001583	missense	162517			BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.1015A>C	17.37:g.6684202A>C	ENSP00000321386:p.Thr339Pro	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000321535.4	37	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.331325	0.60853	.	.	ENSG00000177294	ENST00000321535	T	0.54479	0.57	5.02	5.02	0.67125	.	0.190662	0.37053	N	0.002280	T	0.58250	0.2109	L	0.27053	0.805	0.38377	D	0.945028	D	0.71674	0.998	D	0.76071	0.987	T	0.63328	-0.6662	10	0.54805	T	0.06	-19.4195	11.7215	0.51685	1.0:0.0:0.0:0.0	.	339	Q8N4B4	FBX39_HUMAN	P	339	ENSP00000321386:T339P	ENSP00000321386:T339P	T	+	1	0	FBXO39	6624926	0.986000	0.35501	0.994000	0.49952	0.943000	0.58893	1.952000	0.40343	2.188000	0.69820	0.528000	0.53228	ACT		0.547	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2		NM_153230	
FGD5	152273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	14862883	14862883	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr3:14862883G>A	ENST00000285046.5	+	1	2415	c.2305G>A	c.(2305-2307)Gct>Act	p.A769T	FGD5_ENST00000543601.1_Missense_Mutation_p.A528T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	769					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)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|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.A769T(1)|p.A528T(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CTTCCCCAGCGCTGACACTTC	0.592																																																	2	Substitution - Missense(2)	kidney(2)											155.0	166.0	162.0					3																	14862883		2052	4199	6251	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2305G>A	3.37:g.14862883G>A	ENSP00000285046:p.Ala769Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579163	0.86645	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.78481	-1.18;-0.98	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000020	T	0.77980	0.4212	L	0.61036	1.89	0.58432	D	0.999999	D;D	0.64830	0.994;0.994	B;B	0.43478	0.41;0.421	T	0.81084	-0.1093	10	0.51188	T	0.08	-22.1484	18.7482	0.91802	0.0:0.0:1.0:0.0	.	528;769	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	T	769;528	ENSP00000285046:A769T;ENSP00000445949:A528T	ENSP00000285046:A769T	A	+	1	0	FGD5	14837887	1.000000	0.71417	0.123000	0.21794	0.949000	0.60115	7.326000	0.79133	2.495000	0.84180	0.591000	0.81541	GCT		0.592	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1		NM_152536	
FIG4	9896	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	110053850	110053850	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr6:110053850A>G	ENST00000230124.3	+	5	581	c.457A>G	c.(457-459)Ata>Gta	p.I153V	FIG4_ENST00000441478.2_Missense_Mutation_p.I7V|FIG4_ENST00000368941.1_Missense_Mutation_p.I76V	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	153					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.I153V(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GTATCTACGAATATTTCAAAA	0.274																																																	1	Substitution - Missense(1)	kidney(1)											90.0	91.0	91.0					6																	110053850		2201	4293	6494	SO:0001583	missense	9896			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.457A>G	6.37:g.110053850A>G	ENSP00000230124:p.Ile153Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877811	0.51801	.	.	ENSG00000112367	ENST00000441478;ENST00000230124;ENST00000454215;ENST00000368941	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.23	5.23	0.72850	Synaptojanin, N-terminal (1);	0.165159	0.51477	D	0.000082	T	0.41880	0.1178	L	0.50993	1.605	0.28455	N	0.916146	P;P	0.36712	0.551;0.566	B;B	0.43990	0.283;0.438	T	0.44757	-0.9307	10	0.54805	T	0.06	-22.1717	15.1108	0.72355	1.0:0.0:0.0:0.0	.	7;153	F5H8L9;Q92562	.;FIG4_HUMAN	V	7;153;132;76	ENSP00000399443:I7V;ENSP00000230124:I153V;ENSP00000412156:I132V;ENSP00000357937:I76V	ENSP00000230124:I153V	I	+	1	0	FIG4	110160543	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.924000	0.92827	1.980000	0.57719	0.477000	0.44152	ATA		0.274	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1		NM_014845	
GABRA1	2554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	161277823	161277823	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr5:161277823A>T	ENST00000428797.2	+	3	362	c.7A>T	c.(7-9)Aaa>Taa	p.K3*	GABRA1_ENST00000437025.2_Nonsense_Mutation_p.K3*|GABRA1_ENST00000444819.1_Nonsense_Mutation_p.K3*|GABRA1_ENST00000393943.4_Nonsense_Mutation_p.K3*|GABRA1_ENST00000023897.6_Nonsense_Mutation_p.K3*|GABRA1_ENST00000420560.1_Nonsense_Mutation_p.K3*	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	3					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.K3*(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CGCGATGAGGAAAAGTCCAGG	0.468																																																	1	Substitution - Nonsense(1)	kidney(1)											106.0	103.0	104.0					5																	161277823		2203	4300	6503	SO:0001587	stop_gained	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.7A>T	5.37:g.161277823A>T	ENSP00000393097:p.Lys3*	Somatic		WXS	Illumina HiSeq	Phase_I	D3DQK6|Q8N629	Nonsense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	A	38	7.063126	0.98036	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000521339;ENST00000420560;ENST00000522651;ENST00000444819;ENST00000519621	.	.	.	5.37	4.21	0.49690	.	0.722255	0.13625	N	0.374146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7864	0.40679	0.9219:0.0:0.0781:0.0	.	.	.	.	X	3;3;3;3;9;3;3;3;3	.	ENSP00000023897:K3X	K	+	1	0	GABRA1	161210401	0.998000	0.40836	0.852000	0.33557	0.955000	0.61496	4.315000	0.59172	0.897000	0.36392	0.524000	0.50904	AAA		0.468	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2		NM_000806.5	
GSTA2	2939	broad.mit.edu;hgsc.bcm.edu	37	6	52622679	52622679	+	Silent	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr6:52622679G>A	ENST00000493422.1	-	2	222	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	23	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.L23L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GCTGCAGCCAGGAGCCACCGG	0.488																																																	1	Substitution - coding silent(1)	kidney(1)											111.0	106.0	107.0					6																	52622679		2203	4300	6503	SO:0001819	synonymous_variant	2939			AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.67C>T	6.37:g.52622679G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q12759|Q16491|Q9NTY6	Silent	SNP	ENST00000493422.1	37	CCDS4944.1																																																																																				0.488	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1		NM_000846	
GTF2IRD1	9569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	73973274	73973274	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr7:73973274C>A	ENST00000265755.3	+	21	2629	c.2236C>A	c.(2236-2238)Ctg>Atg	p.L746M	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.L731M|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.L731M|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.L763M	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	746					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L746M(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CATCGAGGGGCTGCCCCCAGG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											84.0	79.0	81.0					7																	73973274		2203	4300	6503	SO:0001583	missense	9569			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2236C>A	7.37:g.73973274C>A	ENSP00000265755:p.Leu746Met	Somatic		WXS	Illumina HiSeq	Phase_I	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	CCDS5571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.219718|4.219718	0.79464|0.79464	.|.	.|.	ENSG00000006704|ENSG00000006704	ENST00000470715|ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	.|T;T;T;T	.|0.61980	.|0.06;0.06;0.06;0.06	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.152670	.|0.44902	.|D	.|0.000410	T|T	0.64505|0.64505	0.2604|0.2604	N|N	0.20445|0.20445	0.575|0.575	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D;D	.|0.76494	.|0.999;0.961;0.999;0.999	.|D;D;D;D	.|0.91635	.|0.999;0.955;0.996;0.978	T|T	0.65212|0.65212	-0.6223|-0.6223	5|10	.|0.41790	.|T	.|0.15	-13.8141|-13.8141	11.9579|11.9579	0.52991|0.52991	0.0:0.9118:0.0:0.0882|0.0:0.9118:0.0:0.0882	.|.	.|763;731;746;731	.|Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.|.;.;GT2D1_HUMAN;.	D|M	108|746;763;731;731	.|ENSP00000265755:L746M;ENSP00000397566:L763M;ENSP00000408477:L731M;ENSP00000418383:L731M	.|ENSP00000265755:L746M	A|L	+|+	2|1	0|2	GTF2IRD1|GTF2IRD1	73611210|73611210	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	2.820000|2.820000	0.48057|0.48057	2.096000|2.096000	0.63516|0.63516	0.555000|0.555000	0.69702|0.69702	GCT|CTG		0.597	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2		NM_016328	
GTPBP2	54676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43592732	43592732	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr6:43592732A>T	ENST00000307126.5	-	6	772	c.773T>A	c.(772-774)tTc>tAc	p.F258Y	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.F170Y	NM_019096.3	NP_061969.3			GTP binding protein 2									p.F258Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CAGGTCGATGAAGGTGATCAT	0.582																																					GBM(116;405 1620 28302 32150 44768)												1	Substitution - Missense(1)	kidney(1)											199.0	155.0	170.0					6																	43592732		2203	4300	6503	SO:0001583	missense	54676			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.773T>A	6.37:g.43592732A>T	ENSP00000303997:p.Phe258Tyr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000307126.5	37	CCDS4903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.9|26.9	4.786067|4.786067	0.90282|0.90282	.|.	.|.	ENSG00000172432|ENSG00000172432	ENST00000307126;ENST00000307114|ENST00000442748	T;T|.	0.47528|.	0.84;0.84|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Protein synthesis factor, GTP-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83871|0.83871	0.5348|0.5348	H|H	0.94542|0.94542	3.55|3.55	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.89917|.	1.0;0.995|.	D;D|.	0.76575|.	0.988;0.946|.	D|D	0.88909|0.88909	0.3358|0.3358	10|5	0.87932|.	D|.	0|.	-14.0382|-14.0382	15.109|15.109	0.72340|0.72340	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	250;258|.	Q9BX10-4;Q9BX10|.	.;GTPB2_HUMAN|.	Y|T	258;170|224	ENSP00000303997:F258Y;ENSP00000304893:F170Y|.	ENSP00000304893:F170Y|.	F|S	-|-	2|1	0|0	GTPBP2|GTPBP2	43700710|43700710	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.339000|9.339000	0.96797|0.96797	1.958000|1.958000	0.56883|0.56883	0.454000|0.454000	0.30748|0.30748	TTC|TCA		0.582	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1			
RP3-470B24.5	0	hgsc.bcm.edu	37	6	168376925	168376926	+	lincRNA	INS	-	-	T	rs2516606|rs71305247|rs35001101|rs66632147	byFrequency	TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr6:168376925_168376926insT	ENST00000538528.1	-	0	693_694																											TGCAGTGTGTGGGGAAGGAGGA	0.634													?|-|T|unsure	1595	0.31849	0.2579	0.3199	5008	,	,		19949	0.3998		0.2535	False		,,,				2504	0.3824																0										559,21,2008		29,0,501,4,13,747							0.0		dbSNP_130	23	1115,56,3729		66,2,981,3,48,1350	no	codingComplex	HGC6.3	NM_001129895.2		95,2,1482,7,61,2097	A1A1,A1A2,A1R,A2A2,A2R,RR		23.898,22.4111,23.3841				1674,77,5737						100128124																															6.37:g.168376925_168376926insT		Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000538528.1	37																																																																																					0.634	RP3-470B24.5-201	KNOWN	basic	lincRNA	lincRNA				
IL17RC	84818	hgsc.bcm.edu;ucsc.edu	37	3	9965582	9965582	+	Missense_Mutation	SNP	G	G	A	rs75692599	byFrequency	TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr3:9965582G>A	ENST00000295981.3	+	8	1071	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	IL17RC_ENST00000416074.2_Missense_Mutation_p.V70M|IL17RC_ENST00000455057.1_Missense_Mutation_p.V199M|IL17RC_ENST00000403601.3_Missense_Mutation_p.V214M|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.V214M|IL17RC_ENST00000383812.4_Missense_Mutation_p.V199M	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	285					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGGCTCAACGTGTCAGCAGA	0.567													G|||	24	0.00479233	0.003	0.0058	5008	,	,		19241	0.0		0.0159	False		,,,				2504	0.0																0								G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	10,4396	16.8+/-37.8	0,10,2193	83.0	76.0	78.0		640,640,595,595,640,853	2.2	0.1	3	dbSNP_131	78	202,8398	87.9+/-150.2	5,192,4103	yes	missense,missense,missense,missense,missense,missense	IL17RC	NM_001203263.1,NM_001203264.1,NM_001203265.1,NM_032732.5,NM_153460.3,NM_153461.3	21,21,21,21,21,21	5,202,6296	AA,AG,GG		2.3488,0.227,1.63	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	214/708,214/691,199/689,199/706,214/721,285/792	9965582	212,12794	2203	4300	6503	SO:0001583	missense	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.853G>A	3.37:g.9965582G>A	ENSP00000295981:p.Val285Met	Somatic		WXS	Illumina HiSeq	Phase_I	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	CCDS2590.1	15	0.006868131868131868	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	11	0.014511873350923483	G	8.788	0.929765	0.18131	0.00227	0.023488	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1	5.47	2.2	0.27929	.	0.636179	0.13137	N	0.410970	T	0.17577	0.0422	M	0.64997	1.995	0.09310	N	1	D;D;P;P;D;D;D;D;D	0.76494	0.981;0.999;0.943;0.943;0.994;0.99;0.966;0.997;0.997	B;P;B;B;P;P;B;P;P	0.57283	0.428;0.817;0.246;0.246;0.557;0.557;0.428;0.654;0.704	T	0.06625	-1.0816	10	0.62326	D	0.03	-8.7325	4.2685	0.10775	0.0961:0.1562:0.5875:0.1602	.	199;70;199;214;214;214;199;285;214	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	M	199;174;285;189;214;70;199;214	ENSP00000373323:V199M;ENSP00000414609:V174M;ENSP00000295981:V285M;ENSP00000401128:V189M;ENSP00000384969:V214M;ENSP00000395315:V70M;ENSP00000407894:V199M;ENSP00000396064:V214M	ENSP00000295981:V285M	V	+	1	0	IL17RC	9940582	0.951000	0.32395	0.104000	0.21259	0.258000	0.26162	1.493000	0.35605	0.687000	0.31509	0.638000	0.83543	GTG		0.567	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2		NM_032732	
IQGAP2	10788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	75932958	75932958	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr5:75932958C>T	ENST00000274364.6	+	16	2177	c.1880C>T	c.(1879-1881)tCa>tTa	p.S627L	IQGAP2_ENST00000379730.3_Missense_Mutation_p.S186L|IQGAP2_ENST00000396234.3_Missense_Mutation_p.S180L|IQGAP2_ENST00000502745.1_Missense_Mutation_p.S180L	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	627	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.S627L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACACCTGAATCATGCTTGTAT	0.388																																																	1	Substitution - Missense(1)	kidney(1)											112.0	108.0	109.0					5																	75932958		2203	4300	6503	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1880C>T	5.37:g.75932958C>T	ENSP00000274364:p.Ser627Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551467	0.27739	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000502745	T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.72	0.354	0.16063	WW/Rsp5/WWP (1);	1.226290	0.05738	N	0.600830	T	0.31949	0.0813	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.003;0.001	T	0.16837	-1.0389	10	0.25106	T	0.35	1.8235	1.4396	0.02351	0.2991:0.3987:0.1328:0.1694	.	186;577;180;627	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	L	627;186;600;577;180;180;180;180	ENSP00000274364:S627L;ENSP00000442313:S186L;ENSP00000423672:S600L;ENSP00000421097:S577L;ENSP00000422661:S180L;ENSP00000379535:S180L;ENSP00000426027:S180L	ENSP00000274364:S627L	S	+	2	0	IQGAP2	75968714	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.177000	0.09796	0.327000	0.23409	0.585000	0.79938	TCA		0.388	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1		NM_006633	
JUN	3725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	59247909	59247909	+	Silent	SNP	G	G	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:59247909G>C	ENST00000371222.2	-	1	1876	c.834C>G	c.(832-834)gcC>gcG	p.A278A	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	278	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A278A(1)		breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	CCTCCAGCCGGGCGATTCTCT	0.562			A		sarcoma						OREG0013518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		1	1p32-p31	3725	jun oncogene		M	1	Substitution - coding silent(1)	kidney(1)											91.0	91.0	91.0					1																	59247909		2203	4300	6503	SO:0001819	synonymous_variant	3725			AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.834C>G	1.37:g.59247909G>C		Somatic	1037	WXS	Illumina HiSeq	Phase_I	Q6FHM7|Q96G93	Silent	SNP	ENST00000371222.2	37	CCDS610.1																																																																																				0.562	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1		NM_002228	
KEAP1	9817	broad.mit.edu;ucsc.edu	37	19	10599946	10599946	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr19:10599946A>G	ENST00000171111.5	-	5	2177	c.1630T>C	c.(1630-1632)Tgg>Cgg	p.W544R	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.W544R	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	544					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.W544R(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ACGAAAGTCCACGTCTCTGTT	0.602																																																	1	Substitution - Missense(1)	kidney(1)											81.0	61.0	68.0					19																	10599946		2203	4300	6503	SO:0001583	missense	9817			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1630T>C	19.37:g.10599946A>G	ENSP00000171111:p.Trp544Arg	Somatic		WXS	Illumina GAIIx	Phase_I	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.084002	0.55861	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.96940	-4.18;-4.18	5.73	5.73	0.89815	Kelch-type beta propeller (1);	0.059099	0.64402	D	0.000001	D	0.99121	0.9697	H	0.99863	4.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98579	1.0649	10	0.87932	D	0	.	14.01	0.64490	1.0:0.0:0.0:0.0	.	544	Q14145	KEAP1_HUMAN	R	544	ENSP00000171111:W544R;ENSP00000377245:W544R	ENSP00000171111:W544R	W	-	1	0	KEAP1	10460946	1.000000	0.71417	0.553000	0.28255	0.080000	0.17528	8.845000	0.92153	2.200000	0.70718	0.477000	0.44152	TGG		0.602	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1		NM_012289	
KIAA0368	23392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	114184459	114184459	+	Silent	SNP	A	A	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr9:114184459A>T	ENST00000338205.5	-	13	1506	c.1287T>A	c.(1285-1287)acT>acA	p.T429T	KIAA0368_ENST00000259335.4_Silent_p.T607T			Q5VYK3	ECM29_HUMAN	KIAA0368	435					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.T607T(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTATATCCTTAGTGAATAAAT	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											73.0	71.0	71.0					9																	114184459		1848	4097	5945	SO:0001819	synonymous_variant	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1287T>A	9.37:g.114184459A>T		Somatic		WXS	Illumina HiSeq	Phase_I	O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37																																																																																					0.378	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2		NM_014686	
KRIT1	889	broad.mit.edu;ucsc.edu	37	7	91855963	91855963	+	Silent	SNP	T	T	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr7:91855963T>C	ENST00000340022.2	-	11	2041	c.1023A>G	c.(1021-1023)ttA>ttG	p.L341L	KRIT1_ENST00000394507.1_Silent_p.L341L|KRIT1_ENST00000394503.2_Silent_p.L293L|KRIT1_ENST00000394505.2_Silent_p.L341L|KRIT1_ENST00000412043.2_Silent_p.L341L	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	341					angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.L341L(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTCCTTTCTCTAACAATATGC	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											105.0	100.0	101.0					7																	91855963		2203	4300	6503	SO:0001819	synonymous_variant	889			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1023A>G	7.37:g.91855963T>C		Somatic		WXS	Illumina GAIIx	Phase_I	A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Silent	SNP	ENST00000340022.2	37	CCDS5624.1																																																																																				0.348	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			
KRT79	338785	broad.mit.edu;ucsc.edu	37	12	53216799	53216799	+	Splice_Site	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr12:53216799C>T	ENST00000330553.5	-	7	1402		c.e7+1			NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79							extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGGGCCACCACCTGCTCTCCT	0.647																																																	1	Unknown(1)	kidney(1)											37.0	35.0	36.0					12																	53216799		2203	4300	6503	SO:0001630	splice_region_variant	338785			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1367+1G>A	12.37:g.53216799C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q6P465|Q7Z793	Splice_Site	SNP	ENST00000330553.5	37	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994928	0.74703	.	.	ENSG00000185640	ENST00000330553;ENST00000549255	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8817	0.79208	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT79	51503066	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.573000	0.82421	2.393000	0.81446	0.555000	0.69702	.		0.647	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1		NM_175834	Intron
LGI2	55203	broad.mit.edu;ucsc.edu	37	4	25032128	25032128	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr4:25032128A>G	ENST00000382114.4	-	1	373	c.188T>C	c.(187-189)aTc>aCc	p.I63T		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	63	LRRNT.					extracellular region (GO:0005576)		p.I63T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGAGCTGATGTCGCCCGG	0.716																																																	1	Substitution - Missense(1)	kidney(1)											16.0	20.0	19.0					4																	25032128		2191	4286	6477	SO:0001583	missense	55203			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.188T>C	4.37:g.25032128A>G	ENSP00000371548:p.Ile63Thr	Somatic		WXS	Illumina GAIIx	Phase_I	Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	CCDS3431.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.49|17.49	3.401691|3.401691	0.62288|0.62288	.|.	.|.	ENSG00000153012|ENSG00000153012	ENST00000382114|ENST00000512108	D|.	0.90069|.	-2.61|.	4.23|4.23	4.23|4.23	0.50019|0.50019	.|.	0.184401|.	0.45606|.	D|.	0.000342|.	T|T	0.56891|0.56891	0.2016|0.2016	L|L	0.41824|0.41824	1.3|1.3	0.53005|0.53005	D|D	0.999962|0.999962	P|.	0.34892|.	0.474|.	B|.	0.41088|.	0.347|.	T|T	0.54309|0.54309	-0.8313|-0.8313	10|5	0.17369|.	T|.	0.5|.	-19.8279|-19.8279	12.5958|12.5958	0.56468|0.56468	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	63|.	Q8N0V4|.	LGI2_HUMAN|.	T|P	63|54	ENSP00000371548:I63T|.	ENSP00000371548:I63T|.	I|S	-|-	2|1	0|0	LGI2|LGI2	24641226|24641226	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.809000|6.809000	0.75211|0.75211	1.675000|1.675000	0.50919|0.50919	0.459000|0.459000	0.35465|0.35465	ATC|TCA		0.716	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			
MAP3K5	4217	broad.mit.edu;ucsc.edu	37	6	136932484	136932484	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr6:136932484C>A	ENST00000359015.4	-	18	2817	c.2457G>T	c.(2455-2457)aaG>aaT	p.K819N	MAP3K5_ENST00000355845.4_Missense_Mutation_p.K66N	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	819	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.K819N(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGTCAGAGATCTTGAGAACAC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											156.0	147.0	150.0					6																	136932484		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2457G>T	6.37:g.136932484C>A	ENSP00000351908:p.Lys819Asn	Somatic		WXS	Illumina GAIIx	Phase_I	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231407	0.79688	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.39406	1.08;1.08	5.17	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.093758	0.64402	D	0.000001	T	0.69214	0.3086	H	0.98111	4.15	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.79019	-0.1974	10	0.87932	D	0	.	10.1232	0.42634	0.0:0.8456:0.0:0.1544	.	899;819	Q59GL6;Q99683	.;M3K5_HUMAN	N	819;66;899	ENSP00000351908:K819N;ENSP00000348104:K66N	ENSP00000348104:K66N	K	-	3	2	MAP3K5	136974177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.093000	0.41710	1.294000	0.44707	0.555000	0.69702	AAG		0.373	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			
MAP4K5	11183	hgsc.bcm.edu;ucsc.edu	37	14	50904202	50904202	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr14:50904202delC	ENST00000013125.4	-	25	2192	c.1874delG	c.(1873-1875)tgtfs	p.C626fs		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	626	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					ACCTATGCAACATTTGTGGCA	0.343																																																	0													85.0	73.0	77.0					14																	50904202		1831	4097	5928	SO:0001589	frameshift_variant	11183			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1874delG	14.37:g.50904202delC	ENSP00000013125:p.Cys626fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IYF6	Frame_Shift_Del	DEL	ENST00000013125.4	37																																																																																					0.343	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1		NM_006575	
MCAM	4162	broad.mit.edu	37	11	119187759	119187761	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr11:119187759_119187761delCAG	ENST00000264036.4	-	1	65_67	c.51_53delCTG	c.(49-54)tgctgt>tgt	p.17_18CC>C	MCAM_ENST00000392814.1_5'Flank|MCAM_ENST00000530144.2_Intron	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	17					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GACGCGAGGACAGCAGCAGCAGG	0.744																																																	0										6,3438		0,6,1716						1.2	1.0			7	14,6786		2,10,3388	no	coding	MCAM	NM_006500.2		2,16,5104	A1A1,A1R,RR		0.2059,0.1742,0.1952				20,10224				SO:0001651	inframe_deletion	4162			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.51_53delCTG	11.37:g.119187768_119187770delCAG	ENSP00000264036:p.Cys18del	Somatic		WXS	Illumina GAIIx	Phase_I	O95812|Q59E86|Q6PHR3|Q6ZTR2	In_Frame_Del	DEL	ENST00000264036.4	37	CCDS31690.1																																																																																				0.744	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			
MED10	84246	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	6372701	6372701	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr5:6372701A>T	ENST00000255764.3	-	4	433	c.323T>A	c.(322-324)cTg>cAg	p.L108Q		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	108					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.L108Q(1)		kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						TTGAATCAACAGGCTTTTAAA	0.393																																																	1	Substitution - Missense(1)	kidney(1)											64.0	70.0	68.0					5																	6372701		2203	4300	6503	SO:0001583	missense	84246				CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398			28760	protein-coding gene	gene with protein product	"""NUT2 homolog (S. cerevisiae)"""	612382	"""mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)"""			15657623, 15175163	Standard	NM_032286		Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.323T>A	5.37:g.6372701A>T	ENSP00000255764:p.Leu108Gln	Somatic		WXS	Illumina HiSeq	Phase_I	C6G491	Missense_Mutation	SNP	ENST00000255764.3	37	CCDS34134.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829019	0.71258	.	.	ENSG00000133398	ENST00000255764	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.62267	-0.6890	9	0.25106	T	0.35	-19.4188	15.4893	0.75593	1.0:0.0:0.0:0.0	.	108	Q9BTT4	MED10_HUMAN	Q	108	.	ENSP00000255764:L108Q	L	-	2	0	MED10	6425701	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.269000	0.78482	2.254000	0.74563	0.533000	0.62120	CTG		0.393	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365714.1		NM_032286	
MFSD1	64747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	158545109	158545109	+	Silent	SNP	A	A	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr3:158545109A>T	ENST00000264266.8	+	15	1439	c.1377A>T	c.(1375-1377)atA>atT	p.I459I	MFSD1_ENST00000392813.4_Silent_p.I469I|MFSD1_ENST00000415822.2_Silent_p.I508I			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	459					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.I508I(1)|p.I459I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGGAAGAAATAAAATTTTCCC	0.284																																					Pancreas(62;1186 1654 36636 37908)												2	Substitution - coding silent(2)	kidney(2)											66.0	70.0	69.0					3																	158545109		2200	4290	6490	SO:0001819	synonymous_variant	64747			BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.1377A>T	3.37:g.158545109A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Silent	SNP	ENST00000264266.8	37																																																																																					0.284	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1		NM_022736	
MICALL2	79778	broad.mit.edu;ucsc.edu	37	7	1478560	1478560	+	Missense_Mutation	SNP	G	G	A	rs569986164	byFrequency	TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr7:1478560G>A	ENST00000297508.7	-	10	2213	c.2038C>T	c.(2038-2040)Ctt>Ttt	p.L680F	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.L468F	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	680	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.L680F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TCCGGCCGAAGCCAGTTGTCA	0.672													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16879	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											40.0	43.0	42.0					7																	1478560		2202	4300	6502	SO:0001583	missense	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2038C>T	7.37:g.1478560G>A	ENSP00000297508:p.Leu680Phe	Somatic		WXS	Illumina GAIIx	Phase_I	D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287431	0.40494	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.71222	2.29;-0.55	3.32	3.32	0.38043	.	0.352941	0.16820	N	0.198213	T	0.74928	0.3781	L	0.36672	1.1	0.35744	D	0.818906	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.982	T	0.78023	-0.2366	10	0.44086	T	0.13	.	10.8508	0.46769	0.0:0.0:1.0:0.0	.	680;468	Q8IY33;D3YTD2	MILK2_HUMAN;.	F	468;680	ENSP00000385928:L468F;ENSP00000297508:L680F	ENSP00000297508:L680F	L	-	1	0	MICALL2	1445086	1.000000	0.71417	0.832000	0.32986	0.042000	0.13812	2.074000	0.41529	1.782000	0.52362	0.462000	0.41574	CTT		0.672	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2		NM_182924	
MGAM	8972	broad.mit.edu	37	7	141762388	141762388	+	Silent	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr7:141762388C>T	ENST00000549489.2	+	35	4238	c.4143C>T	c.(4141-4143)gcC>gcT	p.A1381A	MGAM_ENST00000475668.2_Silent_p.A1381A	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1381	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.A1381A(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTATGTGGCCTTCCCAGACT	0.388																																																	3	Substitution - coding silent(3)	kidney(3)											37.0	32.0	33.0					7																	141762388		1797	4041	5838	SO:0001819	synonymous_variant	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4143C>T	7.37:g.141762388C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	CCDS47727.1																																																																																				0.388	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			
NDRG1	10397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	134270635	134270635	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr8:134270635C>T	ENST00000414097.2	-	7	1291	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000323851.7_Missense_Mutation_p.G142S|NDRG1_ENST00000522476.1_Missense_Mutation_p.G76S|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000537882.1_Missense_Mutation_p.G61S|NDRG1_ENST00000354944.5_Splice_Site	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	142					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)	p.G142S(1)	NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATGTAGGCGCCTGCTCCTGTT	0.428			T	ERG	prostate																																			Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	1	Substitution - Missense(1)	kidney(1)											67.0	62.0	64.0					8																	134270635		2203	4300	6503	SO:0001583	missense	10397			X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.424G>A	8.37:g.134270635C>T	ENSP00000404854:p.Gly142Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	CCDS34945.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.314422|4.314422	0.81358|0.81358	.|.	.|.	ENSG00000104419|ENSG00000104419	ENST00000354944|ENST00000323851;ENST00000414097;ENST00000537882;ENST00000522476;ENST00000520230;ENST00000518480;ENST00000519228;ENST00000519580;ENST00000522890;ENST00000520943	.|D;D;T;T;T;T;T;T;T;T	.|0.87571	.|-2.27;-2.27;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.95564	.|0.8558	H|H	0.94306|0.94306	3.52|3.52	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	.|D	.|0.96530	.|0.9392	.|10	.|0.87932	.|D	.|0	.|-36.5119	18.1007|18.1007	0.89505|0.89505	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|142	.|Q92597	.|NDRG1_HUMAN	.|S	-1|142;142;61;76;159;76;142;142;142;153	.|ENSP00000319977:G142S;ENSP00000404854:G142S;ENSP00000437443:G61S;ENSP00000427894:G76S;ENSP00000428345:G159S;ENSP00000428802:G76S;ENSP00000429994:G142S;ENSP00000429272:G142S;ENSP00000428384:G142S;ENSP00000429840:G153S	.|ENSP00000319977:G142S	.|G	-|-	.|1	.|0	NDRG1|NDRG1	134339817|134339817	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.984000|0.984000	0.73092|0.73092	7.187000|7.187000	0.77730|0.77730	2.599000|2.599000	0.87857|0.87857	0.555000|0.555000	0.69702|0.69702	.|GGC		0.428	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			
NRXN2	9379	broad.mit.edu;ucsc.edu	37	11	64427892	64427892	+	Silent	SNP	T	T	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr11:64427892T>G	ENST00000377551.1	-	10	2512	c.2301A>C	c.(2299-2301)ggA>ggC	p.G767G	NRXN2_ENST00000265459.6_Silent_p.G767G|NRXN2_ENST00000496291.1_5'Flank|NRXN2_ENST00000409571.1_Silent_p.G760G|NRXN2_ENST00000377559.3_Silent_p.G736G|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	767	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.G767G(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCATCATGAGTCCGTAGGCCC	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											181.0	136.0	151.0					11																	64427892		2201	4297	6498	SO:0001819	synonymous_variant	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2301A>C	11.37:g.64427892T>G		Somatic		WXS	Illumina GAIIx	Phase_I	A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	CCDS8077.1																																																																																				0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3		NM_015080	
OR10J5	127385	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	159505240	159505240	+	Silent	SNP	A	A	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:159505240A>C	ENST00000334857.2	-	1	602	c.558T>G	c.(556-558)ctT>ctG	p.L186L		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L186L(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CAATGCAAGAAAGTTTCATGA	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											81.0	75.0	77.0					1																	159505240		2203	4300	6503	SO:0001819	synonymous_variant	127385				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.558T>G	1.37:g.159505240A>C		Somatic		WXS	Illumina HiSeq	Phase_I	B9EH35|Q6IFH2	Silent	SNP	ENST00000334857.2	37	CCDS30910.1																																																																																				0.393	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1		NM_001004469	
P2RX4	5025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121655012	121655012	+	Silent	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr12:121655012C>T	ENST00000337233.4	+	2	518	c.210C>T	c.(208-210)ggC>ggT	p.G70G	P2RX4_ENST00000359949.7_Silent_p.G86G|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000543171.1_Intron|P2RX4_ENST00000541532.1_Silent_p.G70G	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	70					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.G70G(1)		breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGTCAAGGGCGTGGCTGTGA	0.498																																																	1	Substitution - coding silent(1)	kidney(1)											484.0	294.0	358.0					12																	121655012		2203	4300	6503	SO:0001819	synonymous_variant	5025			Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.210C>T	12.37:g.121655012C>T		Somatic		WXS	Illumina HiSeq	Phase_I	E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Silent	SNP	ENST00000337233.4	37	CCDS9214.1																																																																																				0.498	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1		NM_175567	
PABPN1L	390748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	88931430	88931430	+	Splice_Site	SNP	C	C	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr16:88931430C>A	ENST00000419291.2	-	4	577	c.566G>T	c.(565-567)gGt>gTt	p.G189V	PABPN1L_ENST00000411789.2_Splice_Site_p.G189V|PABPN1L_ENST00000427766.1_Intron|PABPN1L_ENST00000378358.4_Splice_Site_p.G189V	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	189	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G189V(2)		kidney(1)	1						CCACACTGACCCCTTGGGGTG	0.657																																																	2	Substitution - Missense(2)	kidney(2)											14.0	17.0	16.0					16																	88931430		1922	4106	6028	SO:0001630	splice_region_variant	390748				CCDS45547.1, CCDS45547.2, CCDS73925.1	16q24.3	2013-02-12	2009-12-17		ENSG00000205022	ENSG00000205022		"""RNA binding motif (RRM) containing"""	37237	protein-coding gene	gene with protein product	"""embryonic poly(A) binding protein 2"""					18483763	Standard	NM_001080487		Approved	ePABP2	uc010vpe.2	A6NDY0		ENST00000419291.2:c.566+1G>T	16.37:g.88931430C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A1L3B3|A2VDI2	Missense_Mutation	SNP	ENST00000419291.2	37	CCDS45547.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920778	0.92249	.	.	ENSG00000205022	ENST00000378358;ENST00000419291;ENST00000411789	D;D;D	0.83591	-1.74;-1.74;-1.74	5.41	5.41	0.78517	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.049232	0.85682	D	0.000000	D	0.94932	0.8361	H	0.98089	4.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96726	0.9536	9	.	.	.	.	18.7832	0.91942	0.0:1.0:0.0:0.0	.	189;189;189	A6NDY0;A6NDY0-4;A6NDY0-2	EPAB2_HUMAN;.;.	V	189	ENSP00000367609:G189V;ENSP00000408598:G189V;ENSP00000405259:G189V	.	G	-	2	0	PABPN1L	87458931	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.256000	0.78350	2.537000	0.85549	0.511000	0.50034	GGT;GGT;GGG		0.657	PABPN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407502.1		NM_001080487	Missense_Mutation
PAX8	7849	broad.mit.edu	37	2	113999705	113999705	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr2:113999705G>A	ENST00000429538.3	-	6	675	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.P161S|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.P161S|AC016683.6_ENST00000437551.1_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.P161S|RP11-65I12.1_ENST00000553319.1_RNA|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.P161S|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	161					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)	p.P161S(1)	PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCTGAGCTGGGGACTGCAGTG	0.642			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)			Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	1	Substitution - Missense(1)	kidney(1)											20.0	21.0	21.0					2																	113999705		1946	4145	6091	SO:0001583	missense	7849			X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.481C>T	2.37:g.113999705G>A	ENSP00000395498:p.Pro161Ser	Somatic		WXS	Illumina GAIIx	Phase_I	Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	g	13.48	2.249123	0.39797	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.97831	-4.56;-4.55;-4.33;-3.92;-4.33	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.97284	0.9112	N	0.25332	0.735	0.80722	D	1	D;B;D;B;B	0.89917	0.996;0.244;1.0;0.036;0.026	D;B;D;B;B	0.80764	0.986;0.067;0.994;0.03;0.012	D	0.96723	0.9534	10	0.31617	T	0.26	.	16.4726	0.84115	0.0:0.0:1.0:0.0	.	161;161;161;161;161	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	S	161	ENSP00000263335:P161S;ENSP00000380768:P161S;ENSP00000314750:P161S;ENSP00000395498:P161S;ENSP00000263334:P161S	ENSP00000263334:P161S	P	-	1	0	PAX8	113716175	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	3.409000	0.52657	2.550000	0.86006	0.552000	0.68991	CCC		0.642	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52668807	52668807	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr3:52668807G>C	ENST00000296302.7	-	11	1113	c.1112C>G	c.(1111-1113)tCa>tGa	p.S371*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S371*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S371*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S371*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S371*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S371*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.S339*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S371*			Q86U86	PB1_HUMAN	polybromo 1	371					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)	p.S371*(2)|p.S339*(1)		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)		TTCTGCTTCTGACTCTCCCTC	0.368			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											80.0	78.0	79.0					3																	52668807		2203	4300	6503	SO:0001587	stop_gained	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.1112C>G	3.37:g.52668807G>C	ENSP00000296302:p.Ser371*	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	38	6.860062	0.97893	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-25.5488	20.2566	0.98424	0.0:0.0:1.0:0.0	.	.	.	.	X	339;371;371;371;371;371;371;371;371;315	.	ENSP00000296302:S371X	S	-	2	0	PBRM1	52643847	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.476000	0.97823	2.793000	0.96121	0.561000	0.74099	TCA		0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PGPEP1L	145814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	99511748	99511748	+	Missense_Mutation	SNP	C	C	T	rs369052790		TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr15:99511748C>T	ENST00000378919.6	-	5	755	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	PGPEP1L_ENST00000535714.1_Missense_Mutation_p.E130K|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	184							cysteine-type peptidase activity (GO:0008234)	p.E184K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						GAGTTTTCTTCGAACTGGGCT	0.532													c|||	1	0.000199681	0.0	0.0014	5008	,	,		17406	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											58.0	57.0	57.0					15																	99511748		1918	4111	6029	SO:0001583	missense	145814				CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.550G>A	15.37:g.99511748C>T	ENSP00000368199:p.Glu184Lys	Somatic		WXS	Illumina HiSeq	Phase_I	H0YF86	Missense_Mutation	SNP	ENST00000378919.6	37	CCDS53977.1	.	.	.	.	.	.	.	.	.	.	c	3.982	-0.006274	0.07773	.	.	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.33654	1.4	4.74	-2.15	0.07102	.	.	.	.	.	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32981	-0.9886	9	0.06757	T	0.87	.	6.2698	0.20949	0.0:0.554:0.1303:0.3157	.	184	A6NFU8	PGPIL_HUMAN	K	184;177	ENSP00000368199:E184K	ENSP00000368199:E184K	E	-	1	0	PGPEP1L	97329271	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.335000	0.07873	-0.712000	0.04988	-1.088000	0.02184	GAA		0.532	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1		NM_001102612.2	
PI4KAP1	728233	broad.mit.edu	37	22	20386644	20386644	+	RNA	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr22:20386644G>A	ENST00000430523.3	-	0	1868					NR_003563.1		Q8N8J0	PI4P1_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)												CGAGATTGCCGCCCGGCGAGC	0.567																																																	0																																												728233					22q11.21	2007-08-14	2007-08-14			ENSG00000274602			33576	pseudogene	pseudogene							Standard	NR_003563		Approved		uc010gsg.2	Q8N8J0			22.37:g.20386644G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000430523.3	37																																																																																					0.567	PI4KAP1-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319534.5			
PKD2L2	27039	broad.mit.edu;hgsc.bcm.edu	37	5	137257415	137257415	+	Silent	SNP	T	T	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr5:137257415T>G	ENST00000508883.1	+	9	1445	c.1419T>G	c.(1417-1419)acT>acG	p.T473T	PKD2L2_ENST00000508638.1_Intron|PKD2L2_ENST00000350250.4_Silent_p.T439T|PKD2L2_ENST00000502810.1_Silent_p.T451T|PKD2L2_ENST00000290431.5_Silent_p.T473T			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	473					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.T473T(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACTTCATCACTTTCATCTTTT	0.294																																																	1	Substitution - coding silent(1)	kidney(1)											175.0	160.0	165.0					5																	137257415		1804	4074	5878	SO:0001819	synonymous_variant	27039			AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1419T>G	5.37:g.137257415T>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Silent	SNP	ENST00000508883.1	37																																																																																					0.294	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1		NM_014386	
POTEF	728378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	130832626	130832626	+	Missense_Mutation	SNP	C	C	T	rs368389320		TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr2:130832626C>T	ENST00000409914.2	-	17	2818	c.2419G>A	c.(2419-2421)Gag>Aag	p.E807K	POTEF_ENST00000357462.5_Missense_Mutation_p.E807K	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	807	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.E807K(2)|p.E807*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGGGTGGCCTCGGTCAGCAGG	0.587																																																	3	Substitution - Missense(2)|Substitution - Nonsense(1)	lung(1)|breast(1)|kidney(1)						C	LYS/GLU	0,4406		0,0,2203	123.0	132.0	129.0		2419		0.1	2		129	1,8599		0,1,4299	no	missense	POTEF	NM_001099771.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	807/1076	130832626	1,13005	2203	4300	6503	SO:0001583	missense	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2419G>A	2.37:g.130832626C>T	ENSP00000386786:p.Glu807Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	16.32	3.090688	0.55968	0.0	1.16E-4	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.96940	-4.18;-4.18	.	.	.	Actin/actin-like conserved site (1);	.	.	.	.	D	0.98378	0.9461	H	0.98068	4.14	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.96321	0.9236	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	807	A5A3E0	POTEF_HUMAN	K	807	ENSP00000350052:E807K;ENSP00000386786:E807K	ENSP00000350052:E807K	E	-	1	0	POTEF	130549096	1.000000	0.71417	0.065000	0.19835	0.066000	0.16364	5.244000	0.65400	0.119000	0.18210	0.121000	0.15741	GAG		0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2		NM_001099771	
PRKACA	5566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14204026	14204026	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr19:14204026C>G	ENST00000308677.4	-	10	1150	c.954G>C	c.(952-954)aaG>aaC	p.K318N	SAMD1_ENST00000533683.2_5'Flank|PRKACA_ENST00000350356.3_5'UTR|SAMD1_ENST00000541938.1_5'Flank|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.K310N	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	318	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)	p.K318N(1)|p.K310N(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GGCCTTTAAACTTTGGTATGA	0.433																																																	2	Substitution - Missense(2)	kidney(2)											77.0	70.0	72.0					19																	14204026		2203	4300	6503	SO:0001583	missense	5566				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.954G>C	19.37:g.14204026C>G	ENSP00000309591:p.Lys318Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	ENST00000308677.4	37	CCDS12304.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618780	0.46736	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695	T	0.07908	3.15	4.08	4.08	0.47627	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.48767	D	0.000171	T	0.13927	0.0337	M	0.74467	2.265	0.38676	D	0.952421	B;B	0.21309	0.005;0.054	B;B	0.24541	0.039;0.054	T	0.04870	-1.0921	10	0.59425	D	0.04	.	14.2262	0.65860	0.0:1.0:0.0:0.0	.	318;310	P17612;P17612-2	KAPCA_HUMAN;.	N	318;310;318	ENSP00000309591:K318N	ENSP00000309591:K318N	K	-	3	2	PRKACA	14065026	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.821000	0.55700	2.296000	0.77279	0.423000	0.28283	AAG		0.433	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1		NM_002730	
PSMB11	122706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23511574	23511574	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr14:23511574C>A	ENST00000408907.2	+	1	199	c.140C>A	c.(139-141)gCc>gAc	p.A47D		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	47					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)	p.A47D(3)		endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CCCAGACTGGCCCACGGCACC	0.647																																																	3	Substitution - Missense(3)	kidney(3)											59.0	70.0	66.0					14																	23511574		2168	4258	6426	SO:0001583	missense	122706				CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.140C>A	14.37:g.23511574C>A	ENSP00000386212:p.Ala47Asp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000408907.2	37	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648147	0.67358	.	.	ENSG00000222028	ENST00000408907	T	0.21932	1.98	5.4	5.4	0.78164	.	0.088670	0.46758	D	0.000266	T	0.33789	0.0875	L	0.33093	0.98	0.35751	D	0.819449	D	0.71674	0.998	D	0.67900	0.954	T	0.16247	-1.0409	10	0.19590	T	0.45	0.0968	17.9805	0.89139	0.0:1.0:0.0:0.0	.	47	A5LHX3	PSB11_HUMAN	D	47	ENSP00000386212:A47D	ENSP00000386212:A47D	A	+	2	0	PSMB11	22581414	0.028000	0.19301	1.000000	0.80357	0.765000	0.43378	3.080000	0.50112	2.536000	0.85505	0.563000	0.77884	GCC		0.647	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1		NM_001099780	
RBBP5	5929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205084987	205084987	+	Splice_Site	SNP	T	T	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:205084987T>C	ENST00000264515.6	-	2	185	c.44A>G	c.(43-45)gAg>gGg	p.E15G	RBBP5_ENST00000484379.1_Intron|RBBP5_ENST00000367164.1_Splice_Site_p.E15G	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	15					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)	p.E15G(1)		cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TACTCTTACCTCTGGATAGTT	0.378																																																	1	Substitution - Missense(1)	kidney(1)											190.0	191.0	190.0					1																	205084987		2203	4300	6503	SO:0001630	splice_region_variant	5929			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.45+1A>G	1.37:g.205084987T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.732163	0.89390	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.64991	-0.13;-0.07	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.82490	0.5048	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.988;0.972	D	0.86374	0.1725	10	0.87932	D	0	.	13.2527	0.60060	0.0:0.0:0.0:1.0	.	50;15;15	B4DMM7;Q15291-2;Q15291	.;.;RBBP5_HUMAN	G	15	ENSP00000264515:E15G;ENSP00000356132:E15G	ENSP00000264515:E15G	E	-	2	0	RBBP5	203351610	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.587000	0.74071	2.151000	0.67156	0.397000	0.26171	GAG		0.378	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1		NM_005057	Missense_Mutation
RBCK1	10616	hgsc.bcm.edu	37	20	411016	411017	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr20:411016_411017insC	ENST00000356286.5	+	12	2180_2181	c.1475_1476insC	c.(1474-1479)ggctgcfs	p.C493fs	RBCK1_ENST00000353660.3_Frame_Shift_Ins_p.C451fs|RBCK1_ENST00000382181.2_Frame_Shift_Ins_p.C323fs	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	493					negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				ACCAGCGGGGGCTGCCGCTGCA	0.624																																																	0																																										SO:0001589	frameshift_variant	10616			U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.1476dupC	20.37:g.411017_411017dupC	ENSP00000348632:p.Cys493fs	Somatic		WXS	Illumina HiSeq	Phase_I	O95623|Q86SL2|Q96BS3|Q9BYM9	Frame_Shift_Ins	INS	ENST00000356286.5	37	CCDS13000.2																																																																																				0.624	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3		NM_031229	
RHBDD2	57414	broad.mit.edu;ucsc.edu	37	7	75517559	75517559	+	Silent	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr7:75517559C>T	ENST00000006777.6	+	4	1122	c.987C>T	c.(985-987)ggC>ggT	p.G329G	RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000318622.4_Silent_p.G188G|RHBDD2_ENST00000428119.1_Silent_p.G188G	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	329						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)	p.G329G(1)|p.G188G(1)		kidney(1)|lung(4)|prostate(1)	6						CCTCCCTGGGCATCCAGCCCC	0.652																																																	2	Substitution - coding silent(2)	kidney(2)											74.0	83.0	80.0					7																	75517559		1978	4161	6139	SO:0001819	synonymous_variant	57414			AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.987C>T	7.37:g.75517559C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	ENST00000006777.6	37	CCDS43602.1																																																																																				0.652	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1		NM_020684	
ROS1	6098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	117665413	117665413	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr6:117665413A>T	ENST00000368508.3	-	27	4532	c.4334T>A	c.(4333-4335)cTg>cAg	p.L1445Q	ROS1_ENST00000368507.3_Missense_Mutation_p.L1439Q|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1445					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L1445Q(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGCTAGAGACAGAAACGCTTT	0.338			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	2	Substitution - Missense(2)	kidney(2)											172.0	165.0	168.0					6																	117665413		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4334T>A	6.37:g.117665413A>T	ENSP00000357494:p.Leu1445Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894335	0.52121	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.83419	-1.72;-1.7	5.16	5.16	0.70880	.	0.136949	0.33309	N	0.005043	T	0.81093	0.4751	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.84833	0.0803	10	0.87932	D	0	.	11.6564	0.51320	1.0:0.0:0.0:0.0	.	1445	P08922	ROS1_HUMAN	Q	1445;1439	ENSP00000357494:L1445Q;ENSP00000357493:L1439Q	ENSP00000357493:L1439Q	L	-	2	0	ROS1	117772106	0.978000	0.34361	1.000000	0.80357	0.462000	0.32619	5.814000	0.69208	2.077000	0.62373	0.459000	0.35465	CTG		0.338	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			
SCARF2	91179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	20783904	20783904	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr22:20783904G>A	ENST00000266214.5	-	8	1447	c.1343C>T	c.(1342-1344)gCg>gTg	p.A448V	SCARF2_ENST00000405555.3_Missense_Mutation_p.A448V	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	448					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.A448V(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GACGAGCAGCGCGCCCGCGCC	0.682																																																	1	Substitution - Missense(1)	kidney(1)											54.0	63.0	60.0					22																	20783904		2203	4300	6503	SO:0001583	missense	91179			AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1343C>T	22.37:g.20783904G>A	ENSP00000266214:p.Ala448Val	Somatic		WXS	Illumina HiSeq	Phase_I	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	ENST00000266214.5	37	CCDS13779.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764861	0.49574	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.29142	1.58;1.58	4.49	4.49	0.54785	.	0.450083	0.20653	N	0.088175	T	0.17066	0.0410	L	0.28274	0.84	0.80722	D	1	D;D	0.54047	0.964;0.964	B;B	0.35607	0.206;0.206	T	0.05767	-1.0865	10	0.13853	T	0.58	-20.81	13.025	0.58810	0.0:0.0:1.0:0.0	.	448;448	E5RFB8;Q96GP6	.;SREC2_HUMAN	V	448	ENSP00000385589:A448V;ENSP00000266214:A448V	ENSP00000266214:A448V	A	-	2	0	SCARF2	19113904	0.980000	0.34600	1.000000	0.80357	0.604000	0.37047	2.960000	0.49161	2.207000	0.71202	0.561000	0.74099	GCG		0.682	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			
SLC19A3	80704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228563604	228563604	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr2:228563604T>G	ENST00000258403.3	-	3	898	c.827A>C	c.(826-828)aAa>aCa	p.K276T	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.K272T	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	276					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.K276T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GAAAAGACGTTTTGAGGAGTA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											106.0	99.0	102.0					2																	228563604		2203	4300	6503	SO:0001583	missense	80704			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.827A>C	2.37:g.228563604T>G	ENSP00000258403:p.Lys276Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000258403.3	37	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.567788	0.28003	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	D;D	0.82167	-1.58;-1.58	5.76	2.12	0.27331	Major facilitator superfamily domain, general substrate transporter (1);	0.343572	0.32918	N	0.005487	T	0.71796	0.3382	L	0.47716	1.5	0.09310	N	1	P;B	0.35575	0.51;0.037	B;B	0.35770	0.21;0.14	T	0.57015	-0.7883	10	0.19590	T	0.45	-4.8363	4.5576	0.12143	0.1465:0.3623:0.0:0.4911	.	272;276	F5H2M8;Q9BZV2	.;S19A3_HUMAN	T	276;272	ENSP00000258403:K276T;ENSP00000445519:K272T	ENSP00000258403:K276T	K	-	2	0	SLC19A3	228271848	0.000000	0.05858	0.260000	0.24451	0.933000	0.57130	0.360000	0.20250	0.131000	0.18576	0.533000	0.62120	AAA		0.468	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			
SLC26A5	375611	hgsc.bcm.edu;ucsc.edu	37	7	103018052	103018052	+	Silent	SNP	C	C	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr7:103018052C>A	ENST00000306312.3	-	18	2241	c.1980G>T	c.(1978-1980)ctG>ctT	p.L660L	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Silent_p.L662L|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Silent_p.L93L|SLC26A5_ENST00000393723.1_Silent_p.L630L|SLC26A5_ENST00000393730.1_Silent_p.L628L|SLC26A5_ENST00000393729.1_Silent_p.L623L|SLC26A5_ENST00000432958.2_Silent_p.L628L|SLC26A5_ENST00000339444.6_Silent_p.L660L	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	660	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTACCCCTGCCAGAGTTTTCA	0.438																																																	0													63.0	63.0	63.0					7																	103018052		2203	4300	6503	SO:0001819	synonymous_variant	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1980G>T	7.37:g.103018052C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	CCDS5733.1																																																																																				0.438	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1		NM_198999	
SLC9C2	284525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	173526501	173526501	+	Missense_Mutation	SNP	C	C	T	rs528983665		TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:173526501C>T	ENST00000367714.3	-	10	1615	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.R296Q	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	398					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.R398Q(2)									TTCCACTTTTCGTTCAGCGAG	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		17442	0.0		0.0	False		,,,				2504	0.001																2	Substitution - Missense(2)	kidney(1)|skin(1)											104.0	113.0	110.0					1																	173526501		2203	4300	6503	SO:0001583	missense	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1193G>A	1.37:g.173526501C>T	ENSP00000356687:p.Arg398Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	4.407	0.075265	0.08485	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.20598	2.06;2.06	5.56	0.186	0.15105	Cation/H+ exchanger (1);	1.946090	0.02262	N	0.067620	T	0.02304	0.0071	N	0.03154	-0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32508	-0.9904	10	0.27785	T	0.31	-0.0524	2.3114	0.04187	0.1443:0.0856:0.33:0.44	.	398	Q5TAH2	S9A11_HUMAN	Q	398;296	ENSP00000356687:R398Q;ENSP00000445437:R296Q	ENSP00000356687:R398Q	R	-	2	0	SLC9A11	171793124	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.220000	0.17660	0.067000	0.16545	-0.324000	0.08512	CGA		0.363	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1		NM_178527	
SLC35F3	148641	broad.mit.edu;ucsc.edu	37	1	234458836	234458836	+	Silent	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:234458836C>T	ENST00000366617.3	+	7	1341	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	SLC35F3_ENST00000366618.3_Silent_p.L440L			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	371					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.L440L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTTTTCTCCTCCTGCTCCTGC	0.562											OREG0014330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											131.0	114.0	120.0					1																	234458836		2203	4300	6503	SO:0001819	synonymous_variant	148641				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.1113C>T	1.37:g.234458836C>T		Somatic	2373	WXS	Illumina GAIIx	Phase_I	Q5TDD6|Q8N9C9	Silent	SNP	ENST00000366617.3	37																																																																																					0.562	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1		NM_173508	
SLC9A3	6550	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	482713	482713	+	Silent	SNP	G	G	A	rs150200197		TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr5:482713G>A	ENST00000264938.3	-	7	1315	c.1306C>T	c.(1306-1308)Ctg>Ttg	p.L436L	CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.L436L	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	436					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.L436L(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CTGACGAACAGGTTCTTCTCC	0.652																																																	1	Substitution - coding silent(1)	kidney(1)						G		0,4404		0,0,2202	97.0	86.0	90.0		1306	3.2	1.0	5	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC9A3	NM_004174.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		436/835	482713	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	6550				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1306C>T	5.37:g.482713G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	CCDS3855.1																																																																																				0.652	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2		NM_004174	
SPRED1	161742	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	38643311	38643311	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr15:38643311T>C	ENST00000299084.4	+	7	1641	c.781T>C	c.(781-783)Tac>Cac	p.Y261H		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	261	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.Y261H(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CTATGCAGACTACAGACATCC	0.378									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)												1	Substitution - Missense(1)	kidney(1)											82.0	79.0	80.0					15																	38643311		2200	4297	6497	SO:0001583	missense	161742	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.781T>C	15.37:g.38643311T>C	ENSP00000299084:p.Tyr261His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688747	0.68271	.	.	ENSG00000166068	ENST00000299084	D	0.91068	-2.78	5.83	5.83	0.93111	c-Kit-binding domain (1);	0.052973	0.85682	D	0.000000	D	0.94679	0.8284	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95136	0.8259	10	0.87932	D	0	-11.1003	16.1894	0.81975	0.0:0.0:0.0:1.0	.	261	Q7Z699	SPRE1_HUMAN	H	261	ENSP00000299084:Y261H	ENSP00000299084:Y261H	Y	+	1	0	SPRED1	36430603	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.217000	0.71921	0.528000	0.53228	TAC		0.378	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			
SRSF1	6426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56084396	56084396	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr17:56084396C>T	ENST00000258962.4	-	1	311	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000584773.1_Missense_Mutation_p.V35M|SRSF1_ENST00000585096.1_Missense_Mutation_p.V35M|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000582730.2_Missense_Mutation_p.V35M	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	35	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V35M(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGTAGAACACGTCCTCAATG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											213.0	162.0	179.0					17																	56084396		2203	4300	6503	SO:0001583	missense	6426				CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.103G>A	17.37:g.56084396C>T	ENSP00000258962:p.Val35Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401948	0.42613	.	.	ENSG00000136450	ENST00000258962	T	0.16597	2.33	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	T	0.15652	0.0377	L	0.28274	0.84	0.80722	D	1	B;B	0.32829	0.386;0.269	B;B	0.29524	0.103;0.041	T	0.02345	-1.1173	10	0.66056	D	0.02	.	19.5057	0.95114	0.0:1.0:0.0:0.0	.	67;35	Q59FA2;Q07955	.;SRSF1_HUMAN	M	35	ENSP00000258962:V35M	ENSP00000258962:V35M	V	-	1	0	SRSF1	53439395	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.253000	0.65452	2.906000	0.99361	0.655000	0.94253	GTG		0.602	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1		NM_006924	
SCAF11	9169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46355548	46355548	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr12:46355548C>T	ENST00000369367.3	-	3	387	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	SCAF11_ENST00000395454.2_Missense_Mutation_p.E52K|SCAF11_ENST00000395453.2_Missense_Mutation_p.E52K|SCAF11_ENST00000419565.2_Missense_Mutation_p.E52K	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	52					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E52K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AAACCAACTTCCTTTTCTAAT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											95.0	92.0	93.0					12																	46355548		1852	4101	5953	SO:0001583	missense	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.154G>A	12.37:g.46355548C>T	ENSP00000358374:p.Glu52Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	31	5.086846	0.94100	.	.	ENSG00000139218	ENST00000369367;ENST00000419565;ENST00000266589;ENST00000395454;ENST00000395453	T;T;T;T;T	0.66995	-0.24;-0.24;0.78;0.78;0.78	6.16	6.16	0.99307	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.45606	U	0.000341	T	0.79251	0.4414	L	0.55743	1.74	0.33722	D	0.617133	D;D	0.71674	0.998;0.993	D;D	0.71870	0.975;0.968	T	0.78703	-0.2101	10	0.33141	T	0.24	-18.395	20.4702	0.99162	0.0:1.0:0.0:0.0	.	52;52	A8MUK0;Q99590	.;SCAFB_HUMAN	K	52;52;68;52;52	ENSP00000358374:E52K;ENSP00000413036:E52K;ENSP00000266589:E68K;ENSP00000378840:E52K;ENSP00000378839:E52K	ENSP00000266589:E68K	E	-	1	0	SCAF11	44641815	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.741000	0.55090	2.937000	0.99478	0.650000	0.86243	GAA		0.353	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2		NM_004719	
TAAR2	9287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	132938953	132938953	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr6:132938953A>G	ENST00000367931.1	-	2	391	c.392T>C	c.(391-393)aTt>aCt	p.I131T	TAAR2_ENST00000275191.2_Missense_Mutation_p.I86T|TAAR2_ENST00000537809.1_Missense_Mutation_p.I86T			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	131					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.I131T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AAGATGAAAAATGGATGTTAT	0.338																																																	1	Substitution - Missense(1)	kidney(1)											72.0	71.0	71.0					6																	132938953		2203	4300	6503	SO:0001583	missense	9287			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.392T>C	6.37:g.132938953A>G	ENSP00000356908:p.Ile131Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.415772	0.62511	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.19806	2.12;2.12;2.12	6.0	6.0	0.97389	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	M	0.90922	3.16	0.49582	D	0.999803	D	0.71674	0.998	D	0.69824	0.966	T	0.61491	-0.7052	10	0.87932	D	0	-53.1762	16.5044	0.84266	1.0:0.0:0.0:0.0	.	131	Q9P1P5	TAAR2_HUMAN	T	86;131;86	ENSP00000275191:I86T;ENSP00000356908:I131T;ENSP00000441263:I86T	ENSP00000275191:I86T	I	-	2	0	TAAR2	132980646	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	9.220000	0.95180	2.295000	0.77249	0.528000	0.53228	ATT		0.338	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1		NM_014626	
TMEM117	84216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	44537365	44537365	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr12:44537365G>A	ENST00000266534.3	+	4	575	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	TMEM117_ENST00000536799.1_Intron|TMEM117_ENST00000551577.1_Missense_Mutation_p.E150K	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	150						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E150K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CATCCGAAATGAAAGTTTCAT	0.403																																																	1	Substitution - Missense(1)	kidney(1)											121.0	120.0	120.0					12																	44537365		2203	4300	6503	SO:0001583	missense	84216			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.448G>A	12.37:g.44537365G>A	ENSP00000266534:p.Glu150Lys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000266534.3	37	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907521	0.92107	.	.	ENSG00000139173	ENST00000551577;ENST00000266534	T;T	0.46451	0.87;0.87	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.56920	0.2018	L	0.40543	1.245	0.80722	D	1	D;D	0.67145	0.974;0.996	D;D	0.73708	0.953;0.981	T	0.46456	-0.9190	10	0.30078	T	0.28	-22.6354	19.5549	0.95342	0.0:0.0:1.0:0.0	.	150;150	F8VS00;Q9H0C3	.;TM117_HUMAN	K	150	ENSP00000448595:E150K;ENSP00000266534:E150K	ENSP00000266534:E150K	E	+	1	0	TMEM117	42823632	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.297000	0.96120	2.716000	0.92895	0.655000	0.94253	GAA		0.403	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1		NM_032256	
TMEM59	9528	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	54506474	54506474	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:54506474A>C	ENST00000234831.5	-	6	911	c.662T>G	c.(661-663)tTt>tGt	p.F221C	TMEM59_ENST00000371341.1_Missense_Mutation_p.F90C|TMEM59_ENST00000371344.1_Missense_Mutation_p.F90C|TMEM59_ENST00000371348.1_Missense_Mutation_p.F90C	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	221					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.F221C(1)		kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						ATCTTCAAGAAAATTCCTGTG	0.343																																																	1	Substitution - Missense(1)	kidney(1)											104.0	104.0	104.0					1																	54506474		2203	4300	6503	SO:0001583	missense	9528			AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 8"""	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.662T>G	1.37:g.54506474A>C	ENSP00000234831:p.Phe221Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Missense_Mutation	SNP	ENST00000234831.5	37	CCDS586.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.407889	0.25378	.	.	ENSG00000116209	ENST00000371348;ENST00000371344;ENST00000234831;ENST00000371341;ENST00000371338;ENST00000420738;ENST00000440019;ENST00000452421	T;T	0.43688	0.95;0.94	5.23	0.0639	0.14351	.	0.827388	0.11191	N	0.589926	T	0.34919	0.0914	L	0.44542	1.39	0.19575	N	0.999962	P;P;B;P	0.43938	0.56;0.822;0.0;0.56	P;P;B;B	0.46543	0.52;0.52;0.0;0.205	T	0.17349	-1.0372	10	0.39692	T	0.17	-8.048	2.6503	0.04996	0.5232:0.0796:0.1099:0.2873	.	232;232;222;221	E9PGZ9;Q5T704;D3DQ48;Q9BXS4	.;.;.;TMM59_HUMAN	C	90;90;221;90;232;90;90;232	ENSP00000234831:F221C;ENSP00000397772:F232C	ENSP00000234831:F221C	F	-	2	0	TMEM59	54279062	0.820000	0.29190	0.936000	0.37596	0.748000	0.42578	0.825000	0.27393	-0.165000	0.10908	-0.347000	0.07816	TTT		0.343	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023254.2		NM_004872	
UGT2A3	79799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	69817431	69817431	+	Silent	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr4:69817431G>A	ENST00000251566.4	-	1	78	c.48C>T	c.(46-48)ttC>ttT	p.F16F	UGT2A3_ENST00000420231.2_5'Flank	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	16					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.F16F(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCCAACACAGAAGAGCTGCA	0.473																																																	1	Substitution - coding silent(1)	kidney(1)											59.0	57.0	58.0					4																	69817431		2203	4300	6503	SO:0001819	synonymous_variant	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.48C>T	4.37:g.69817431G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H6S4	Silent	SNP	ENST00000251566.4	37	CCDS3525.1																																																																																				0.473	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1		NM_024743	
LOC100420587	100420587	broad.mit.edu	37	19	28927578	28927579	+	lincRNA	INS	-	-	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr19:28927578_28927579insA	ENST00000592347.1	-	0	1828_1829																											CACTGCCTGGTGAAAATATACT	0.495																																																	0																																												0																															19.37:g.28927578_28927579insA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	INS	ENST00000592347.1	37																																																																																					0.495	AC005307.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453069.1			
WDR81	124997	broad.mit.edu;hgsc.bcm.edu	37	17	1633695	1633695	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr17:1633695G>T	ENST00000409644.1	+	2	3689	c.3689G>T	c.(3688-3690)cGc>cTc	p.R1230L	WDR81_ENST00000437219.2_Missense_Mutation_p.R27L|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Missense_Mutation_p.R179L|WDR81_ENST00000419248.1_Missense_Mutation_p.R3L	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1230					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.R179L(2)|p.R27L(2)|p.R1230L(1)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AAGATGGTCCGCTGGCTGTCT	0.657																																																	5	Substitution - Missense(5)	kidney(3)|prostate(2)											31.0	30.0	30.0					17																	1633695		2203	4300	6503	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3689G>T	17.37:g.1633695G>T	ENSP00000386609:p.Arg1230Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026019	0.54683	.	.	ENSG00000167716	ENST00000455636;ENST00000437219;ENST00000309182;ENST00000419248;ENST00000409644	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.49;2.12	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	0.967;1.0;0.983	B;D;P	0.81914	0.435;0.995;0.533	T	0.04360	-1.0957	10	0.23302	T	0.38	.	19.3746	0.94503	0.0:0.0:1.0:0.0	.	27;357;179	B7Z579;Q8TEL1;Q562E7	.;.;WDR81_HUMAN	L	27;27;179;3;1230	ENSP00000395226:R27L;ENSP00000391074:R27L;ENSP00000312074:R179L;ENSP00000407845:R3L;ENSP00000386609:R1230L	ENSP00000312074:R179L	R	+	2	0	WDR81	1580445	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.394000	0.97261	2.584000	0.87258	0.563000	0.77884	CGC		0.657	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2		NM_152348	
ZNF629	23361	hgsc.bcm.edu;ucsc.edu	37	16	30794783	30794783	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr16:30794783G>C	ENST00000262525.4	-	3	1073	c.866C>G	c.(865-867)cCc>cGc	p.P289R		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GCACTTGTAGGGTTTCTCGCC	0.647																																																	0													72.0	81.0	78.0					16																	30794783		2187	4295	6482	SO:0001583	missense	23361			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.866C>G	16.37:g.30794783G>C	ENSP00000262525:p.Pro289Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682643	0.47991	.	.	ENSG00000102870	ENST00000262525	T	0.56444	0.46	5.59	5.59	0.84812	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000387	T	0.70745	0.3259	L	0.58428	1.81	0.37456	D	0.915006	D	0.89917	1.0	D	0.97110	1.0	T	0.75348	-0.3349	10	0.87932	D	0	-37.0264	18.352	0.90342	0.0:0.0:1.0:0.0	.	289	Q9UEG4	ZN629_HUMAN	R	289	ENSP00000262525:P289R	ENSP00000262525:P289R	P	-	2	0	ZNF629	30702284	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.622000	0.46427	2.629000	0.89072	0.561000	0.74099	CCC		0.647	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1		NM_015309	
ZNF740	283337	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53579212	53579212	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr12:53579212T>G	ENST00000416904.3	+	4	646	c.201T>G	c.(199-201)gaT>gaG	p.D67E		NM_001004304.3	NP_001004304.1	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.D67E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						GCCGCAAAGATGATGACAGCT	0.443																																																	1	Substitution - Missense(1)	kidney(1)											78.0	78.0	78.0					12																	53579212		1888	4117	6005	SO:0001583	missense	283337			BC053557	CCDS44896.1	12q13.13	2013-01-08				ENSG00000139651		"""Zinc fingers, C2H2-type"""	27465	protein-coding gene	gene with protein product							Standard	NM_001004304		Approved	Zfp740	uc001scb.4	Q8NDX6		ENST00000416904.3:c.201T>G	12.37:g.53579212T>G	ENSP00000409463:p.Asp67Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9M9	Missense_Mutation	SNP	ENST00000416904.3	37	CCDS44896.1	.	.	.	.	.	.	.	.	.	.	T	8.302	0.820181	0.16678	.	.	ENSG00000139651	ENST00000416904	T	0.06528	3.29	4.85	-4.11	0.03928	.	0.165226	0.40302	N	0.001129	T	0.02418	0.0074	N	0.08118	0	0.24569	N	0.993936	B	0.27416	0.178	B	0.19666	0.026	T	0.33445	-0.9868	10	0.54805	T	0.06	-3.9385	6.4793	0.22053	0.0:0.3322:0.3857:0.282	.	67	Q8NDX6	ZN740_HUMAN	E	67	ENSP00000409463:D67E	ENSP00000409463:D67E	D	+	3	2	ZNF740	51865479	0.929000	0.31497	0.964000	0.40570	0.946000	0.59487	-0.457000	0.06745	-0.827000	0.04278	-0.609000	0.04063	GAT		0.443	ZNF740-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406890.2		NM_001004304	
ZNF846	162993	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9868360	9868360	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr19:9868360G>C	ENST00000397902.2	-	6	1806	c.1393C>G	c.(1393-1395)Ctt>Gtt	p.L465V	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L465V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TGCATATTAAGATTTGTGGAA	0.443																																																	1	Substitution - Missense(1)	kidney(1)											95.0	104.0	101.0					19																	9868360		2148	4275	6423	SO:0001583	missense	162993			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1393C>G	19.37:g.9868360G>C	ENSP00000380999:p.Leu465Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	13.08	2.130862	0.37630	.	.	ENSG00000196605	ENST00000397902	T	0.52983	0.64	2.01	0.947	0.19555	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66713	0.2817	M	0.86740	2.835	0.09310	N	1	D	0.71674	0.998	D	0.68192	0.956	T	0.53599	-0.8416	8	.	.	.	.	6.8284	0.23897	0.1571:0.0:0.8429:0.0	.	465	Q147U1	ZN846_HUMAN	V	465	ENSP00000380999:L465V	.	L	-	1	0	ZNF846	9729360	0.531000	0.26338	0.003000	0.11579	0.247000	0.25773	1.469000	0.35343	0.420000	0.25954	0.456000	0.33151	CTT		0.443	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1		NM_001077624	
