#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
ACLY	47	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40028034	40028034	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:40028034C>T	ENST00000352035.2	-	25	2975	c.2845G>A	c.(2845-2847)Gcc>Acc	p.A949T	ACLY_ENST00000537919.1_Missense_Mutation_p.A678T|ACLY_ENST00000588779.1_5'Flank|ACLY_ENST00000590151.1_Missense_Mutation_p.A949T|ACLY_ENST00000393896.2_Missense_Mutation_p.A939T|ACLY_ENST00000353196.1_Missense_Mutation_p.A939T	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	949					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTGTCAAAGGCTTTACTGAAC	0.502																																					Colon(64;807 1396 15971 30971)												0													136.0	116.0	123.0					17																	40028034		2203	4300	6503	SO:0001583	missense	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2845G>A	17.37:g.40028034C>T	ENSP00000253792:p.Ala949Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	36	5.793081	0.96952	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.89552	-1.56;-1.55;-2.53;-1.55	5.95	5.95	0.96441	Citrate synthase-like, small alpha subdomain (1);Citrate synthase-like, core (1);	0.151102	0.64402	N	0.000015	D	0.95909	0.8668	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D	0.76494	0.969;0.997;0.999;0.995;0.969	P;D;D;D;P	0.70716	0.724;0.952;0.952;0.97;0.843	D	0.95985	0.8981	10	0.87932	D	0	.	20.3645	0.98876	0.0:1.0:0.0:0.0	.	678;993;1003;939;949	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	T	949;1003;939;678;939	ENSP00000253792:A949T;ENSP00000345398:A939T;ENSP00000445349:A678T;ENSP00000377474:A939T	ENSP00000253792:A949T	A	-	1	0	ACLY	37281560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.562000	0.82300	2.821000	0.97095	0.561000	0.74099	GCC		0.502	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1		NM_001096	
AIM1	202	hgsc.bcm.edu;ucsc.edu	37	6	107011654	107011655	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:107011654_107011655delTG	ENST00000369066.3	+	19	5417_5418	c.4930_4931delTG	c.(4930-4932)tgcfs	p.C1644fs	AIM1_ENST00000535438.1_Frame_Shift_Del_p.C463fs	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGAAGACTGCTGCCTGACGATT	0.49																																																	0																																										SO:0001589	frameshift_variant	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4930_4931delTG	6.37:g.107011654_107011655delTG	ENSP00000358062:p.Cys1644fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P2P0|Q9BTM3	Frame_Shift_Del	DEL	ENST00000369066.3	37	CCDS34506.1																																																																																				0.490	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			
ASCC3	10973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	101095127	101095127	+	Silent	SNP	C	C	A			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:101095127C>A	ENST00000369162.2	-	21	3797	c.3453G>T	c.(3451-3453)ctG>ctT	p.L1151L		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1151	SEC63 1.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCATGTCTTTCAGCTTATCCA	0.368																																																	0													115.0	118.0	117.0					6																	101095127		2203	4300	6503	SO:0001819	synonymous_variant	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.3453G>T	6.37:g.101095127C>A		Somatic		WXS	Illumina HiSeq	Phase_I	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	CCDS5046.1																																																																																				0.368	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2		NM_006828	
B4GALNT4	338707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	375649	375649	+	Silent	SNP	C	C	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:375649C>T	ENST00000329962.6	+	10	861	c.861C>T	c.(859-861)gcC>gcT	p.A287A		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	287					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGAGTCAGCCTTGAAGATGG	0.667																																																	0													47.0	49.0	48.0					11																	375649		2197	4294	6491	SO:0001819	synonymous_variant	338707			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.861C>T	11.37:g.375649C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q96LV2	Silent	SNP	ENST00000329962.6	37	CCDS7694.1																																																																																				0.667	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2		NM_178537	
BUB1B	701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40505655	40505655	+	Silent	SNP	G	G	A	rs146821149		TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr15:40505655G>A	ENST00000287598.6	+	20	2853	c.2658G>A	c.(2656-2658)agG>agA	p.R886R	BUB1B_ENST00000412359.3_Silent_p.R900R	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	886	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGAGTCCAAGGTGTCTGATTC	0.348			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																														yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	0													142.0	148.0	146.0					15																	40505655		2203	4300	6503	SO:0001819	synonymous_variant	701	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2658G>A	15.37:g.40505655G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	CCDS10053.1																																																																																				0.348	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			
COL11A2	1302	broad.mit.edu;hgsc.bcm.edu	37	6	33140387	33140387	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:33140387C>A	ENST00000374708.4	-	37	2818	c.2560G>T	c.(2560-2562)Ggg>Tgg	p.G854W	COL11A2_ENST00000395197.1_Missense_Mutation_p.G880W|COL11A2_ENST00000374714.1_Missense_Mutation_p.G914W|COL11A2_ENST00000341947.2_Missense_Mutation_p.G940W|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G859W|COL11A2_ENST00000374713.1_Missense_Mutation_p.G893W|COL11A2_ENST00000361917.1_Missense_Mutation_p.G833W|COL11A2_ENST00000357486.1_Missense_Mutation_p.G919W	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	940	Collagen-like 4.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCTCTCTCCCCCATAGGGCCG	0.627																																					Melanoma(1;90 116 3946 5341 17093)												0													43.0	49.0	47.0					6																	33140387		1509	2709	4218	SO:0001583	missense	1302			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2560G>T	6.37:g.33140387C>A	ENSP00000363840:p.Gly854Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373833	0.82573	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99369	-4.25;-4.25;-4.25;-4.25;-5.78;-4.25;-4.25;-4.25	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.98786	4.33	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	0.97186	0.9854	10	0.87932	D	0	.	15.893	0.79315	0.0:1.0:0.0:0.0	.	833;854;940	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	W	854;940;919;914;893;880;859;833	ENSP00000363840:G854W;ENSP00000339915:G940W;ENSP00000350079:G919W;ENSP00000363846:G914W;ENSP00000363845:G893W;ENSP00000378623:G880W;ENSP00000363844:G859W;ENSP00000355123:G833W	ENSP00000339915:G940W	G	-	1	0	COL11A2	33248365	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.560000	0.82277	2.632000	0.89209	0.643000	0.83706	GGG		0.627	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			
COPB2	9276	hgsc.bcm.edu;ucsc.edu	37	3	139090606	139090606	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr3:139090606delA	ENST00000333188.5	-	10	1345	c.1164delT	c.(1162-1164)tttfs	p.F388fs	COPB2_ENST00000507777.1_Frame_Shift_Del_p.F359fs	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	388					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GAGCAGATCCAAAGCTCTTGT	0.468																																																	0													183.0	160.0	168.0					3																	139090606		2203	4300	6503	SO:0001589	frameshift_variant	9276			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1164delT	3.37:g.139090606delA	ENSP00000329419:p.Phe388fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZI8	Frame_Shift_Del	DEL	ENST00000333188.5	37	CCDS3108.1																																																																																				0.468	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2		NM_004766	
CORO7	79585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4412076	4412076	+	Silent	SNP	G	G	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:4412076G>T	ENST00000251166.4	-	16	1633	c.1488C>A	c.(1486-1488)acC>acA	p.T496T	CORO7-PAM16_ENST00000572467.1_Silent_p.T496T|CORO7_ENST00000574025.1_Silent_p.T411T|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000423908.2_Silent_p.T328T|CORO7_ENST00000539968.1_Silent_p.T276T|CORO7_ENST00000537233.2_Silent_p.T478T	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	496					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CACCAGGTGTGGTGAGGTTGA	0.647																																																	0													138.0	100.0	113.0					16																	4412076		2197	4299	6496	SO:0001819	synonymous_variant	79585			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1488C>A	16.37:g.4412076G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	CCDS10513.1																																																																																				0.647	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2		NM_024535	
CSTF3	1479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	33123767	33123767	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:33123767C>T	ENST00000323959.4	-	10	921	c.782G>A	c.(781-783)aGc>aAc	p.S261N	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	261					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						AAGAGGGTTGCTCTTTTCCCA	0.433																																																	0													183.0	168.0	173.0					11																	33123767		2202	4298	6500	SO:0001583	missense	1479			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.782G>A	11.37:g.33123767C>T	ENSP00000315791:p.Ser261Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797836	0.70567	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36340	1.26	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.82517	2.595	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.44605	-0.9317	10	0.46703	T	0.11	.	19.9946	0.97381	0.0:1.0:0.0:0.0	.	261	Q12996	CSTF3_HUMAN	N	261;194	ENSP00000315791:S261N	ENSP00000315791:S261N	S	-	2	0	CSTF3	33080343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.813000	0.86123	2.728000	0.93425	0.591000	0.81541	AGC		0.433	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1		NM_001326	
CTPS1	1503	hgsc.bcm.edu	37	1	41471734	41471734	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:41471734A>G	ENST00000372621.4	+	13	1772	c.1264A>G	c.(1264-1266)Aca>Gca	p.T422A	CTPS1_ENST00000372616.1_Missense_Mutation_p.T422A|CTPS1_ENST00000541520.1_Missense_Mutation_p.T191A	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						TGCCAATTCTACAGAGTTTGA	0.408																																																	0													125.0	119.0	121.0					1																	41471734		2203	4300	6503	SO:0001583	missense	0			BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1264A>G	1.37:g.41471734A>G	ENSP00000361704:p.Thr422Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000372621.4	37	CCDS459.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.630830	0.46944	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	T;T;T	0.45668	0.92;0.89;0.92	5.95	4.83	0.62350	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	L	0.39898	1.24	0.80722	D	1	B;B	0.22604	0.009;0.072	B;B	0.21917	0.014;0.037	T	0.07481	-1.0770	10	0.17832	T	0.49	.	10.9519	0.47334	0.9265:0.0:0.0735:0.0	.	191;422	B4DR64;P17812	.;PYRG1_HUMAN	A	422;191;422	ENSP00000361704:T422A;ENSP00000442646:T191A;ENSP00000361699:T422A	ENSP00000361699:T422A	T	+	1	0	CTPS	41244321	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.692000	0.91284	1.081000	0.41110	0.533000	0.62120	ACA		0.408	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1		NM_001905	
DNAJB12	54788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	74100574	74100574	+	Silent	SNP	C	C	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:74100574C>T	ENST00000444643.2	-	5	1028	c.696G>A	c.(694-696)agG>agA	p.R232R	DNAJB12_ENST00000461919.1_Silent_p.R27R|DNAJB12_ENST00000338820.3_Silent_p.R266R|DNAJB12_ENST00000394903.2_Silent_p.R266R			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	232						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						TGCGGTCCTGCCTTTGCTGGT	0.642																																																	0													112.0	77.0	89.0					10																	74100574		2203	4300	6503	SO:0001819	synonymous_variant	54788			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"""Heat shock proteins / DNAJ (HSP40)"""	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.696G>A	10.37:g.74100574C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z7I3|Q9H6H0	Silent	SNP	ENST00000444643.2	37																																																																																					0.642	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048581.2			
DOCK4	9732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	111555908	111555908	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr7:111555908C>T	ENST00000437633.1	-	13	1374	c.1118G>A	c.(1117-1119)aGg>aAg	p.R373K	DOCK4_ENST00000428084.1_Missense_Mutation_p.R373K|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	373					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGAATATTCCCTTCTGATTTG	0.368																																																	0													62.0	56.0	58.0					7																	111555908		1815	4088	5903	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1118G>A	7.37:g.111555908C>T	ENSP00000404179:p.Arg373Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.46|14.46	2.543015|2.543015	0.45280|0.45280	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.02498	.|4.27;4.27	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.041390	.|0.85682	.|N	.|0.000000	T|T	0.02083|0.02083	0.0065|0.0065	N|N	0.04669|0.04669	-0.19|-0.19	0.80722|0.80722	D|D	1|1	.|B;B	.|0.11235	.|0.004;0.002	.|B;B	.|0.13407	.|0.009;0.005	T|T	0.59172|0.59172	-0.7504|-0.7504	5|10	.|0.10902	.|T	.|0.67	.|.	19.3311|19.3311	0.94288|0.94288	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|373;373	.|Q149N5;Q8N1I0	.|.;DOCK4_HUMAN	R|K	361|361;373;373;361;372	.|ENSP00000410746:R373K;ENSP00000404179:R373K	.|ENSP00000345432:R361K	G|R	-|-	1|2	0|0	DOCK4|DOCK4	111343144|111343144	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	6.598000|6.598000	0.74122|0.74122	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GGG|AGG		0.368	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4		NM_014705	
EYA2	2139	hgsc.bcm.edu;ucsc.edu	37	20	45771755	45771757	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	GCA	GCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:45771755_45771757delGCA	ENST00000327619.5	+	10	1320_1322	c.946_948delGCA	c.(946-948)gcadel	p.A316del	EYA2_ENST00000357410.3_In_Frame_Del_p.A316del|EYA2_ENST00000317304.6_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	316					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CTTCAACCTTGCAGATACACATC	0.468																																					Pancreas(120;56 1725 18501 25218 43520)												0																																										SO:0001651	inframe_deletion	2139				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.946_948delGCA	20.37:g.45771755_45771757delGCA	ENSP00000333640:p.Ala316del	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	In_Frame_Del	DEL	ENST00000327619.5	37	CCDS13403.1																																																																																				0.468	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2		NM_005244	
FBXO34	55030	hgsc.bcm.edu	37	14	55817989	55817990	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr14:55817989_55817990insG	ENST00000313833.4	+	2	1126_1127	c.881_882insG	c.(880-885)cagggcfs	p.QG294fs	FBXO34_ENST00000440021.1_Frame_Shift_Ins_p.QG294fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	294										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CTGAAGCGGCAGGGCCAGCGTG	0.535																																																	0																																										SO:0001589	frameshift_variant	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.884dupG	14.37:g.55817992_55817992dupG	ENSP00000313159:p.Gln294fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2VPB5|Q4VBP5|Q86TY4	Frame_Shift_Ins	INS	ENST00000313833.4	37	CCDS32086.1																																																																																				0.535	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			
FCAR	2204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55399613	55399613	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:55399613C>T	ENST00000355524.3	+	4	611	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S	FCAR_ENST00000359272.4_Missense_Mutation_p.P189S|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000482092.2_Intron|FCAR_ENST00000391723.3_Intron|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000469767.1_Missense_Mutation_p.P201S|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000391725.3_Intron|FCAR_ENST00000353758.4_Missense_Mutation_p.P92S|FCAR_ENST00000391724.3_Intron	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	201					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CAACAGGAGCCCCTACCTGTG	0.582																																																	0													76.0	66.0	69.0					19																	55399613		2203	4300	6503	SO:0001583	missense	2204			X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.601C>T	19.37:g.55399613C>T	ENSP00000347714:p.Pro201Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326258	0.41197	.	.	ENSG00000186431	ENST00000433231;ENST00000355524;ENST00000353758;ENST00000359272	T;T;T	0.00873	5.59;5.59;5.59	2.86	2.86	0.33363	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.34777	N	0.003689	T	0.03178	0.0093	L	0.56199	1.76	0.09310	N	0.999997	D;D;D;D	0.89917	1.0;0.996;0.996;1.0	D;D;D;D	0.91635	0.981;0.968;0.956;0.999	T	0.20472	-1.0274	10	0.66056	D	0.02	.	9.3833	0.38327	0.0:1.0:0.0:0.0	.	92;189;201;201	Q92592;Q9UEK0;P24071;P24071-4	.;.;FCAR_HUMAN;.	S	201;201;92;189	ENSP00000347714:P201S;ENSP00000338058:P92S;ENSP00000352218:P189S	ENSP00000338058:P92S	P	+	1	0	FCAR	60091425	0.138000	0.22547	0.266000	0.24541	0.039000	0.13416	2.284000	0.43478	1.890000	0.54733	0.563000	0.77884	CCC		0.582	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1		NM_002000	
GPR158	57512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	25887796	25887796	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:25887796A>C	ENST00000376351.3	+	11	3600	c.3241A>C	c.(3241-3243)Att>Ctt	p.I1081L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1081					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGGCCAGTCCATTTTGGAAGA	0.502																																																	0													92.0	95.0	94.0					10																	25887796		2203	4300	6503	SO:0001583	missense	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3241A>C	10.37:g.25887796A>C	ENSP00000365529:p.Ile1081Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.798088	0.00617	.	.	ENSG00000151025	ENST00000376351	T	0.29397	1.57	5.27	-2.2	0.06994	.	0.956005	0.08660	N	0.912554	T	0.11324	0.0276	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33343	-0.9872	10	0.08179	T	0.78	.	1.662	0.02794	0.4208:0.1707:0.257:0.1515	.	1081	Q5T848	GP158_HUMAN	L	1081	ENSP00000365529:I1081L	ENSP00000365529:I1081L	I	+	1	0	GPR158	25927802	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.029000	0.12329	-0.050000	0.13356	-0.213000	0.12676	ATT		0.502	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2		XM_166110	
GRHL1	29841	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	10101473	10101473	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:10101473G>C	ENST00000324907.9	+	4	713	c.577G>C	c.(577-579)Gac>Cac	p.D193H	GRHL1_ENST00000324883.5_Silent_p.L29L|GRHL1_ENST00000405379.2_Missense_Mutation_p.D193H	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	193					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TCTCAATACTGACCAGTTCAG	0.542																																																	0													120.0	117.0	118.0					2																	10101473		2203	4300	6503	SO:0001583	missense	29841			AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.577G>C	2.37:g.10101473G>C	ENSP00000324693:p.Asp193His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443776	0.63067	.	.	ENSG00000134317	ENST00000405379;ENST00000324907	T;T	0.11930	2.73;2.73	5.5	5.5	0.81552	.	0.067555	0.64402	D	0.000012	T	0.15998	0.0385	N	0.08118	0	0.80722	D	1	P	0.52463	0.953	P	0.53954	0.738	T	0.16808	-1.0390	10	0.46703	T	0.11	.	19.3932	0.94594	0.0:0.0:1.0:0.0	.	193	Q9NZI5	GRHL1_HUMAN	H	193	ENSP00000384209:D193H;ENSP00000324693:D193H	ENSP00000324693:D193H	D	+	1	0	GRHL1	10018924	1.000000	0.71417	0.944000	0.38274	0.722000	0.41435	6.803000	0.75180	2.594000	0.87642	0.563000	0.77884	GAC		0.542	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2		NM_014552	
GRID1	2894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	87966299	87966299	+	Silent	SNP	G	G	C			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:87966299G>C	ENST00000327946.7	-	3	427	c.342C>G	c.(340-342)ctC>ctG	p.L114L		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	114					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GCTGGACAAAGAGGTGTGGGA	0.632										Multiple Myeloma(13;0.14)																																							0													162.0	101.0	122.0					10																	87966299		2203	4300	6503	SO:0001819	synonymous_variant	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.342C>G	10.37:g.87966299G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	CCDS31236.1																																																																																				0.632	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3		XM_043613	
GRPEL1	80273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	7062876	7062876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr4:7062876G>A	ENST00000264954.4	-	4	531	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	GRPEL1_ENST00000514056.1_5'UTR	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	123					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenyl-nucleotide exchange factor activity (GO:0000774)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGAACACACTGTGTTGCCTTC	0.463																																																	0													105.0	107.0	106.0					4																	7062876		2203	4300	6503	SO:0001587	stop_gained	80273			AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519			19696	protein-coding gene	gene with protein product		606173				11311562	Standard	NM_025196		Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.367C>T	4.37:g.7062876G>A	ENSP00000264954:p.Gln123*	Somatic		WXS	Illumina HiSeq	Phase_I	B2R783|Q549M6	Nonsense_Mutation	SNP	ENST00000264954.4	37	CCDS3396.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668234	0.88348	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.65	3.88	0.44766	.	0.104529	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	14.5528	0.68078	0.0:0.575:0.425:0.0	.	.	.	.	X	123;102	.	ENSP00000264954:Q123X	Q	-	1	0	GRPEL1	7113777	1.000000	0.71417	0.113000	0.21522	0.780000	0.44128	5.043000	0.64208	1.373000	0.46208	0.561000	0.74099	CAG		0.463	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206983.2		NM_025196	
ITPR2	3709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	26848561	26848562	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:26848561_26848562GC>CT	ENST00000381340.3	-	10	1389_1390	c.973_974GC>AG	c.(973-975)GCc>AGc	p.A325S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	325	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTCATTTTGGGCATCTCGATAA	0.302																																																	0																																										SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.973_974delinsCT	12.37:g.26848561_26848562delinsCT	ENSP00000370744:p.Ala325Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1																																																																																				0.302	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		NM_002223	
LDLR	3949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11224382	11224382	+	Silent	SNP	G	G	A	rs367655096		TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:11224382G>A	ENST00000558518.1	+	10	1717	c.1530G>A	c.(1528-1530)acG>acA	p.T510T	LDLR_ENST00000545707.1_Silent_p.T383T|LDLR_ENST00000535915.1_Silent_p.T469T|LDLR_ENST00000557933.1_Silent_p.T510T|LDLR_ENST00000455727.2_Silent_p.T342T|LDLR_ENST00000558013.1_Silent_p.T510T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	510					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AGAGGAAAACGTTATTCAGGG	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21469	0.0		0.0	False		,,,				2504	0.0				GBM(18;201 575 7820 21545)												1	Unknown(1)	lung(1)	GRCh37	CD005364	LDLR	D		G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	117.0	93.0	101.0		1530,1530,1407,1026,1167,1149	-9.4	0.0	19		101	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LDLR	NM_000527.4,NM_001195798.1,NM_001195799.1,NM_001195800.1,NM_001195802.1,NM_001195803.1	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	510/861,510/859,469/820,342/693,389/740,383/683	11224382	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3949			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1530G>A	19.37:g.11224382G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	CCDS12254.1																																																																																				0.582	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			
MAEA	10296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	1305934	1305934	+	Silent	SNP	C	C	T	rs199554247		TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr4:1305934C>T	ENST00000303400.4	+	2	300	c.237C>T	c.(235-237)agC>agT	p.S79S	MAEA_ENST00000505839.1_Silent_p.S31S|MAEA_ENST00000510794.1_Silent_p.S78S|MAEA_ENST00000505177.2_Silent_p.S79S|MAEA_ENST00000264750.6_Silent_p.S79S|MAEA_ENST00000514708.1_Silent_p.S79S|MAEA_ENST00000452175.2_Silent_p.S68S	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	79	Extracellular and involved in cell to cell contact.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	AGAAGCTCAGCGTCCTCAAGA	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18208	0.001		0.0	False		,,,				2504	0.0																0													37.0	39.0	38.0					4																	1305934		2203	4300	6503	SO:0001819	synonymous_variant	10296			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.237C>T	4.37:g.1305934C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Silent	SNP	ENST00000303400.4	37	CCDS33936.1																																																																																				0.622	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1		NM_005882	
MYH2	4620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10442759	10442759	+	Splice_Site	SNP	A	A	G			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:10442759A>G	ENST00000245503.5	-	13	1651		c.e13+1		MYH2_ENST00000532183.2_Splice_Site|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Splice_Site|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTATGCACCTACCTGTTCTAC	0.443																																																	0													156.0	163.0	161.0					17																	10442759		2203	4300	6503	SO:0001630	splice_region_variant	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1266+1T>C	17.37:g.10442759A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Splice_Site	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.083145	0.55861	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8568	0.63531	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH2	10383484	1.000000	0.71417	0.981000	0.43875	0.545000	0.35147	9.078000	0.94023	2.059000	0.61396	0.477000	0.44152	.		0.443	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3		NM_017534	Intron
NCAPH2	29781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50954874	50954874	+	Splice_Site	SNP	A	A	C			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr22:50954874A>C	ENST00000420993.2	+	2	230		c.e2-1		NCAPH2_ENST00000299821.11_Splice_Site|NCAPH2_ENST00000395698.3_Splice_Site|NCAPH2_ENST00000395701.3_Splice_Site	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2						chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TGTTTCTTGCAGCTGGATCAG	0.537																																																	0													140.0	120.0	127.0					22																	50954874		2203	4300	6503	SO:0001630	splice_region_variant	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.109-1A>C	22.37:g.50954874A>C		Somatic		WXS	Illumina HiSeq	Phase_I	B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Splice_Site	SNP	ENST00000420993.2	37	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	A	18.49	3.635620	0.67130	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000299821	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6932	0.62559	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCAPH2	49301740	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.885000	0.92439	1.928000	0.55862	0.402000	0.26972	.		0.537	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1		NM_152299	Intron
NEURL3	93082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	97164150	97164150	+	RNA	SNP	T	T	C			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:97164150T>C	ENST00000310865.3	-	0	942							A8MQ27	NEU1B_HUMAN	neuralized E3 ubiquitin protein ligase 3						Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)										GGCAGCGTGATAGAAGCAGAT	0.607																																																	0													45.0	49.0	47.0					2																	97164150		2092	4216	6308			93082				CCDS74541.1, CCDS74542.1	2q11.2	2013-10-24	2013-10-24		ENSG00000163121	ENSG00000163121			25162	protein-coding gene	gene with protein product			"""neuralized homolog 3 (Drosophila) pseudogene"""			15936721	Standard	NM_001285486		Approved	Lincr, LOC93082	uc010yuo.2	Q96EH8	OTTHUMG00000128645		2.37:g.97164150T>C		Somatic		WXS	Illumina HiSeq	Phase_I	C9DQJ5|C9DQJ6|C9DQJ7	RNA	SNP	ENST00000310865.3	37																																																																																					0.607	NEURL3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000250521.1		NM_138397	
NUP153	9972	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	17662260	17662260	+	Silent	SNP	T	T	C			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:17662260T>C	ENST00000262077.2	-	10	1256	c.1257A>G	c.(1255-1257)gaA>gaG	p.E419E	NUP153_ENST00000537253.1_Silent_p.E419E	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	419					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTTCTCGTTGTTCTCTATTTT	0.303																																																	0													252.0	254.0	253.0					6																	17662260		2203	4300	6503	SO:0001819	synonymous_variant	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1257A>G	6.37:g.17662260T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	CCDS4541.1																																																																																				0.303	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			
NUP205	23165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	135307659	135307659	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr7:135307659C>T	ENST00000285968.6	+	31	4491	c.4465C>T	c.(4465-4467)Cat>Tat	p.H1489Y		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1489					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGTGATGGTCATGAGATTGG	0.388																																																	0													93.0	89.0	91.0					7																	135307659		2203	4300	6503	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4465C>T	7.37:g.135307659C>T	ENSP00000285968:p.His1489Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517663	0.85495	.	.	ENSG00000155561	ENST00000285968	T	0.32988	1.43	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59653	-0.7414	10	0.66056	D	0.02	-12.7394	18.2858	0.90113	0.0:1.0:0.0:0.0	.	1489	Q92621	NU205_HUMAN	Y	1489	ENSP00000285968:H1489Y	ENSP00000285968:H1489Y	H	+	1	0	NUP205	134958199	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.705000	0.84606	2.386000	0.81285	0.591000	0.81541	CAT		0.388	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			
PCF11	51585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	82877725	82877725	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:82877725A>G	ENST00000298281.4	+	5	2238	c.1786A>G	c.(1786-1788)Aga>Gga	p.R596G		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	596					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.R695R(1)|p.R596R(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTCTGCCAAAAGATGGAAATC	0.348																																																	2	Substitution - coding silent(2)	urinary_tract(2)											73.0	75.0	74.0					11																	82877725		1759	3852	5611	SO:0001583	missense	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1786A>G	11.37:g.82877725A>G	ENSP00000298281:p.Arg596Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844048	0.51164	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.68903	0.49;-0.36;-0.17	6.07	-0.732	0.11147	.	0.000000	0.64402	D	0.000005	T	0.71099	0.3300	L	0.34521	1.04	0.41136	D	0.985927	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.67280	-0.5710	9	.	.	.	.	17.6867	0.88258	0.3868:0.6132:0.0:0.0	.	596;596	E9PQ01;O94913	.;PCF11_HUMAN	G	596	ENSP00000298281:R596G;ENSP00000434540:R596G;ENSP00000431567:R596G	.	R	+	1	2	PCF11	82555373	0.996000	0.38824	0.972000	0.41901	0.993000	0.82548	0.572000	0.23684	-0.360000	0.08138	-0.316000	0.08728	AGA		0.348	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2		NM_015885	
OR8G1	26494	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	124121146	124121147	+	RNA	DNP	AG	AG	TA			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:124121146_124121147AG>TA	ENST00000534473.2	+	0	724_725				OR8G1_ENST00000341493.2_RNA			Q15617	OR8G1_HUMAN	olfactory receptor, family 8, subfamily G, member 1						detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CAGCACTTGTAGCTCCCACATG	0.49																																																	0																																												26494			AB065946	CCDS73407.1	11q24.2	2013-01-23	2004-07-27	2005-05-16	ENSG00000197849	ENSG00000197849		"""GPCR / Class A : Olfactory receptors"""	8484	protein-coding gene	gene with protein product			"""olfactory receptor, family 8, subfamily G, member 1 pseudogene"""	OR8G1P		9119360	Standard	NR_045681		Approved	TPCR25, HSTPCR25	uc031qep.1	Q15617	OTTHUMG00000165974	Exception_encountered	11.37:g.124121146_124121147delinsTA		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NG88	Missense_Mutation	SNP	ENST00000534473.2	37																																																																																					0.490	OR8G1-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387282.2		NM_001002905	
PITX2	5308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	111539589	111539589	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr4:111539589A>T	ENST00000354925.2	-	7	2351	c.646T>A	c.(646-648)Tct>Act	p.S216T	PITX2_ENST00000394598.2_Missense_Mutation_p.S216T|PITX2_ENST00000355080.5_Missense_Mutation_p.S170T|PITX2_ENST00000394595.3_Missense_Mutation_p.L147H|PITX2_ENST00000306732.3_Missense_Mutation_p.S223T|PITX2_ENST00000556049.1_5'Flank	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	216					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GACGAGATAGAGTTGGGTGGG	0.547																																																	0													83.0	79.0	81.0					4																	111539589		2203	4300	6503	SO:0001583	missense	5308			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.646T>A	4.37:g.111539589A>T	ENSP00000347004:p.Ser216Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	CCDS3692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.77|11.77	1.736899|1.736899	0.30774|0.30774	.|.	.|.	ENSG00000164093|ENSG00000164093	ENST00000394595|ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	.|D;D;D;D;D	.|0.93547	.|-2.89;-3.02;-3.15;-3.02;-3.24	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|0.098954	.|0.64402	.|D	.|0.000001	D|D	0.90714|0.90714	0.7086|0.7086	L|L	0.46670|0.46670	1.46|1.46	0.28678|0.28678	N|N	0.905252|0.905252	.|B;B;B;B	.|0.26635	.|0.033;0.111;0.155;0.077	.|B;B;B;B	.|0.28784	.|0.05;0.094;0.085;0.075	D|D	0.84454|0.84454	0.0590|0.0590	6|10	0.87932|0.34782	D|T	0|0.22	.|.	15.3157|15.3157	0.74074|0.74074	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|170;170;216;223	.|A8K6C6;Q99697-3;Q99697;Q99697-2	.|.;.;PITX2_HUMAN;.	H|T	147|223;216;170;216;216	.|ENSP00000304169:S223T;ENSP00000378097:S216T;ENSP00000347192:S170T;ENSP00000347004:S216T;ENSP00000421454:S216T	ENSP00000378095:L147H|ENSP00000304169:S223T	L|S	-|-	2|1	0|0	PITX2|PITX2	111759038|111759038	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.929000|0.929000	0.56500|0.56500	7.136000|7.136000	0.77285|0.77285	2.210000|2.210000	0.71456|0.71456	0.460000|0.460000	0.39030|0.39030	CTC|TCT		0.547	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			
POM121C	100101267	broad.mit.edu;ucsc.edu	37	7	75054987	75054987	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr7:75054987C>G	ENST00000257665.5	-	7	1302	c.1303G>C	c.(1303-1305)Gaa>Caa	p.E435Q	POM121C_ENST00000453279.2_Missense_Mutation_p.E193Q|POM121C_ENST00000473168.1_5'UTR			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	435	Pore side. {ECO:0000255}.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CACAGCTCTTCTTCTCTGTTG	0.453																																																	0													53.0	58.0	56.0					7																	75054987		2201	4297	6498	SO:0001583	missense	100101267				CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1303G>C	7.37:g.75054987C>G	ENSP00000257665:p.Glu435Gln	Somatic		WXS	Illumina GAIIx	Phase_I	O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37		.	.	.	.	.	.	.	.	.	.	C	6.040	0.375715	0.11409	.	.	ENSG00000135213	ENST00000257665;ENST00000453279;ENST00000439629	T;T;T	0.14766	2.48;2.48;2.48	3.46	3.46	0.39613	.	0.182425	0.26045	N	0.026672	T	0.14874	0.0359	L	0.54323	1.7	0.80722	D	1	B	0.26935	0.164	B	0.25506	0.061	T	0.05920	-1.0856	10	0.66056	D	0.02	.	12.0262	0.53371	0.0:1.0:0.0:0.0	.	435	A8CG34	P121C_HUMAN	Q	435;193;65	ENSP00000257665:E435Q;ENSP00000414208:E193Q;ENSP00000410033:E65Q	ENSP00000257665:E435Q	E	-	1	0	POM121C	74892923	1.000000	0.71417	0.944000	0.38274	0.035000	0.12851	3.005000	0.49521	1.641000	0.50575	0.195000	0.17529	GAA		0.453	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2		NM_001099415	
PPM1B	5495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44457623	44457623	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:44457623T>G	ENST00000282412.4	+	6	1618	c.1206T>G	c.(1204-1206)aaT>aaG	p.N402K	PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000345249.4_Missense_Mutation_p.N115K|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000378540.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	402					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGAGAATTAATCATAGGGGAA	0.473																																																	0													87.0	93.0	91.0					2																	44457623		2203	4300	6503	SO:0001583	missense	5495			AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.1206T>G	2.37:g.44457623T>G	ENSP00000282412:p.Asn402Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.107366	0.37145	.	.	ENSG00000138032	ENST00000282412;ENST00000345249	T	0.22539	1.95	5.19	1.54	0.23209	.	0.190945	0.46442	D	0.000297	T	0.10508	0.0257	N	0.19112	0.55	0.80722	D	1	B	0.31318	0.319	B	0.24701	0.055	T	0.21724	-1.0237	10	0.26408	T	0.33	-21.0997	8.3293	0.32175	0.0:0.2356:0.0:0.7644	.	402	O75688	PPM1B_HUMAN	K	402;115	ENSP00000282412:N402K	ENSP00000282412:N402K	N	+	3	2	PPM1B	44311127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.435000	0.44811	0.386000	0.24997	0.482000	0.46254	AAT		0.473	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1		NM_002706	
RBBP6	5930	broad.mit.edu;hgsc.bcm.edu	37	16	24564874	24564874	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:24564874C>A	ENST00000319715.4	+	4	776	c.344C>A	c.(343-345)aCa>aAa	p.T115K	RBBP6_ENST00000381039.3_Missense_Mutation_p.T115K|RBBP6_ENST00000348022.2_Missense_Mutation_p.T115K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	115					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GCCCAGCTTACAAAGGTATAT	0.323																																																	0													83.0	81.0	81.0					16																	24564874		2197	4297	6494	SO:0001583	missense	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.344C>A	16.37:g.24564874C>A	ENSP00000317872:p.Thr115Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237529	0.79800	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.18810	2.19;2.44;2.46	5.47	5.47	0.80525	.	0.100271	0.64402	D	0.000002	T	0.24044	0.0582	N	0.22421	0.69	0.42581	D	0.993215	P;P;P	0.50528	0.925;0.936;0.895	B;P;P	0.53401	0.421;0.725;0.454	T	0.01319	-1.1386	10	0.07482	T	0.82	-19.7928	19.6882	0.95987	0.0:1.0:0.0:0.0	.	115;115;115	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	K	115	ENSP00000370427:T115K;ENSP00000317872:T115K;ENSP00000316291:T115K	ENSP00000317872:T115K	T	+	2	0	RBBP6	24472375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.430000	0.66501	2.716000	0.92895	0.650000	0.86243	ACA		0.323	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2		NM_006910	
RBM43	375287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152112099	152112099	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:152112099T>C	ENST00000331426.5	-	2	313	c.162A>G	c.(160-162)atA>atG	p.I54M		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	54	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGTCGGATATATCACATCTT	0.338																																																	0													150.0	152.0	151.0					2																	152112099		2203	4300	6503	SO:0001583	missense	375287			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.162A>G	2.37:g.152112099T>C	ENSP00000331211:p.Ile54Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2RMT5	Missense_Mutation	SNP	ENST00000331426.5	37	CCDS2191.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533822	0.45073	.	.	ENSG00000184898	ENST00000331426	T	0.46451	0.87	4.44	-2.49	0.06403	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.648102	0.14928	N	0.290224	T	0.24509	0.0594	L	0.29908	0.895	0.80722	D	1	B	0.33807	0.426	B	0.32090	0.14	T	0.04115	-1.0976	10	0.54805	T	0.06	-4.0271	6.2437	0.20805	0.0:0.3993:0.2685:0.3322	.	54	Q6ZSC3	RBM43_HUMAN	M	54	ENSP00000331211:I54M	ENSP00000331211:I54M	I	-	3	3	RBM43	151820345	0.056000	0.20664	0.992000	0.48379	0.704000	0.40688	-1.055000	0.03493	-0.301000	0.08882	0.260000	0.18958	ATA		0.338	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2		NM_198557	
RHOBTB1	9886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	62670706	62670706	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:62670706A>T	ENST00000337910.5	-	4	572	c.235T>A	c.(235-237)Tct>Act	p.S79T	RNU2-72P_ENST00000411175.1_RNA|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.S79T	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	79	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AGCCTGAGAGAAACACTCACT	0.488																																																	0													164.0	127.0	140.0					10																	62670706		2203	4300	6503	SO:0001583	missense	9886			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.235T>A	10.37:g.62670706A>T	ENSP00000338671:p.Ser79Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000337910.5	37	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	A	32	5.110390	0.94292	.	.	ENSG00000072422	ENST00000357917;ENST00000337910;ENST00000536302	T;T	0.76060	-0.99;-0.99	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.80813	0.4695	L	0.38649	1.16	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.82448	-0.0452	10	0.62326	D	0.03	.	15.9815	0.80114	1.0:0.0:0.0:0.0	.	79	O94844	RHBT1_HUMAN	T	79	ENSP00000350595:S79T;ENSP00000338671:S79T	ENSP00000338671:S79T	S	-	1	0	RHOBTB1	62340712	1.000000	0.71417	0.997000	0.53966	0.864000	0.49448	9.225000	0.95219	2.174000	0.68829	0.454000	0.30748	TCT		0.488	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			
RPE65	6121	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	68897205	68897206	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:68897205_68897206insA	ENST00000262340.5	-	11	1244_1245	c.1191_1192insT	c.(1189-1194)agtgacfs	p.D398fs		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	398					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ATAGTCTCGTCACTGCACAGAA	0.47																																																	0																																										SO:0001589	frameshift_variant	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1192dupT	1.37:g.68897206_68897206dupA	ENSP00000262340:p.Asp398fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1L0|Q5T9U3	Frame_Shift_Del	INS	ENST00000262340.5	37	CCDS643.1																																																																																				0.470	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1		NM_000329	
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47162162	47162162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr3:47162162G>A	ENST00000409792.3	-	3	4006	c.3964C>T	c.(3964-3966)Cga>Tga	p.R1322*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1322					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R819*(2)|p.R1322*(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCTTGAGTTCGATCATACACA	0.463			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	4	Substitution - Nonsense(4)	lung(4)											104.0	98.0	100.0					3																	47162162		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3964C>T	3.37:g.47162162G>A	ENSP00000386759:p.Arg1322*	Somatic		WXS	Illumina HiSeq	Phase_I	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	39	7.350623	0.98228	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.32	4.38	0.52667	.	0.000000	0.46758	D	0.000261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6621	0.68879	0.0:0.0:0.779:0.221	.	.	.	.	X	1322;1322;1322;1278	.	ENSP00000386759:R1322X	R	-	1	2	SETD2	47137166	0.881000	0.30235	0.996000	0.52242	0.962000	0.63368	1.783000	0.38664	2.770000	0.95276	0.563000	0.77884	CGA		0.463	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SHROOM2	357	broad.mit.edu;hgsc.bcm.edu	37	X	9914789	9914789	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chrX:9914789C>T	ENST00000380913.3	+	10	4753	c.4663C>T	c.(4663-4665)Cgc>Tgc	p.R1555C	SHROOM2_ENST00000418909.2_Missense_Mutation_p.R390C	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1555	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.R1555C(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCTGGACCGCCGCGAGCGCAT	0.547																																																	1	Substitution - Missense(1)	endometrium(1)											44.0	40.0	41.0					X																	9914789		2203	4299	6502	SO:0001583	missense	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4663C>T	X.37:g.9914789C>T	ENSP00000370299:p.Arg1555Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962301	0.53400	.	.	ENSG00000146950	ENST00000380913;ENST00000418909	T;T	0.47528	0.84;0.84	4.58	1.44	0.22558	Apx/shroom, ASD2 (2);	0.000000	0.64402	D	0.000001	T	0.71558	0.3354	M	0.89840	3.065	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.77086	-0.2718	10	0.87932	D	0	-27.7349	13.1999	0.59761	0.5244:0.4756:0.0:0.0	.	389;1555	Q68DU3;Q13796	.;SHRM2_HUMAN	C	1555;390	ENSP00000370299:R1555C;ENSP00000415229:R390C	ENSP00000370299:R1555C	R	+	1	0	SHROOM2	9874789	0.381000	0.25140	0.542000	0.28115	0.609000	0.37215	0.811000	0.27198	0.306000	0.22856	-0.325000	0.08501	CGC		0.547	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1		NM_001649	
SIPA1L3	23094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38573642	38573642	+	Silent	SNP	C	C	T	rs533477771	byFrequency	TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:38573642C>T	ENST00000222345.6	+	3	1946	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	479					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGAAGTTCCCAAGGAGCAGC	0.672													C|||	5	0.000998403	0.0	0.0	5008	,	,		16777	0.0		0.0	False		,,,				2504	0.0051																0													29.0	34.0	32.0					19																	38573642		2203	4300	6503	SO:0001819	synonymous_variant	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1437C>T	19.37:g.38573642C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																				0.672	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2		XM_032278	
SLIT2	9353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	20599967	20599967	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr4:20599967G>A	ENST00000504154.1	+	33	3893	c.3641G>A	c.(3640-3642)cGt>cAt	p.R1214H	SLIT2_ENST00000503823.1_Missense_Mutation_p.R1206H|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1227H|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1210H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1214	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TATCGGGGGCGTGTTCGTGCC	0.473																																																	0													153.0	142.0	146.0					4																	20599967		2203	4300	6503	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3641G>A	4.37:g.20599967G>A	ENSP00000422591:p.Arg1214His	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	g	9.343	1.063602	0.20067	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.36	5.36	0.76844	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.161948	0.56097	D	0.000027	T	0.54679	0.1873	N	0.05124	-0.11	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.53542	-0.8424	10	0.07482	T	0.82	.	12.8221	0.57698	0.0748:0.0:0.9252:0.0	.	1206;1214	O94813-3;O94813	.;SLIT2_HUMAN	H	1206;1214;1227;1210;1210	ENSP00000427548:R1206H;ENSP00000422591:R1214H;ENSP00000273739:R1227H;ENSP00000422261:R1210H	ENSP00000273739:R1227H	R	+	2	0	SLIT2	20209065	1.000000	0.71417	0.693000	0.30195	0.802000	0.45316	7.625000	0.83145	2.678000	0.91216	0.644000	0.83932	CGT		0.473	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			
STYK1	55359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	10783738	10783738	+	Silent	SNP	C	C	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:10783738C>T	ENST00000075503.3	-	5	877	c.357G>A	c.(355-357)caG>caA	p.Q119Q		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CACTGCAAATCTGCTCCAGAA	0.507										HNSCC(73;0.22)																																							0													80.0	77.0	78.0					12																	10783738		2203	4300	6503	SO:0001819	synonymous_variant	55359			AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.357G>A	12.37:g.10783738C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Silent	SNP	ENST00000075503.3	37	CCDS8629.1																																																																																				0.507	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1		NM_018423	
TAF3	83860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	8006092	8006092	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:8006092G>T	ENST00000344293.5	+	3	825	c.619G>T	c.(619-621)Gtt>Ttt	p.V207F		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	207					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CACGCTAGATGTTGTGTTATT	0.488																																																	0													86.0	86.0	86.0					10																	8006092		1952	4141	6093	SO:0001583	missense	83860			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.619G>T	10.37:g.8006092G>T	ENSP00000340271:p.Val207Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	4.616	0.114487	0.08831	.	.	ENSG00000165632	ENST00000344293;ENST00000542889	T	0.18810	2.19	5.67	-0.579	0.11720	.	0.440966	0.19740	N	0.107156	T	0.15565	0.0375	L	0.57536	1.79	0.09310	N	0.999996	B	0.34103	0.437	B	0.27500	0.08	T	0.10965	-1.0607	10	0.56958	D	0.05	-6.5977	5.7779	0.18289	0.3243:0.0:0.5564:0.1193	.	207	Q5VWG9	TAF3_HUMAN	F	207	ENSP00000340271:V207F	ENSP00000340271:V207F	V	+	1	0	TAF3	8046098	0.288000	0.24324	0.002000	0.10522	0.019000	0.09904	0.931000	0.28871	-0.140000	0.11394	0.655000	0.94253	GTT		0.488	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1		NM_031923	
TMEM214	54867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27256957	27256957	+	Silent	SNP	C	C	A			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:27256957C>A	ENST00000238788.9	+	2	236	c.174C>A	c.(172-174)acC>acA	p.T58T	TMEM214_ENST00000404032.3_Silent_p.T58T	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	58					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCACAAGCACCCTTTATGAGC	0.547																																																	0													101.0	104.0	103.0					2																	27256957		1945	4143	6088	SO:0001819	synonymous_variant	54867				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.174C>A	2.37:g.27256957C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	CCDS42664.1																																																																																				0.547	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1		NM_017727	
TRIM3	10612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6479378	6479378	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:6479378C>T	ENST00000525074.1	-	3	674	c.280G>A	c.(280-282)Gat>Aat	p.D94N	TRIM3_ENST00000529058.1_5'Flank|TRIM3_ENST00000359518.3_Missense_Mutation_p.D94N|TRIM3_ENST00000536344.1_5'UTR|TRIM3_ENST00000345851.3_Missense_Mutation_p.D94N|TRIM3_ENST00000537602.1_Missense_Mutation_p.D94N	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	94					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCCCATCAGGTGCCTGC	0.647																																					Melanoma(6;5 510 1540 25169 29084)												0													47.0	49.0	49.0					11																	6479378		2201	4296	6497	SO:0001583	missense	10612			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.280G>A	11.37:g.6479378C>T	ENSP00000433102:p.Asp94Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604985	0.46423	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000528227;ENST00000529529	T;T;T;T;T;T	0.73897	-0.62;-0.62;-0.79;-0.62;0.98;1.7	5.33	5.33	0.75918	Zinc finger, RING/FYVE/PHD-type (1);	0.160258	0.56097	D	0.000035	T	0.53722	0.1814	N	0.03608	-0.345	0.80722	D	1	B	0.09022	0.002	B	0.15484	0.013	T	0.50775	-0.8788	10	0.19590	T	0.45	-11.6238	17.5983	0.88018	0.0:1.0:0.0:0.0	.	94	O75382	TRIM3_HUMAN	N	94	ENSP00000433102:D94N;ENSP00000340797:D94N;ENSP00000441091:D94N;ENSP00000352508:D94N;ENSP00000433070:D94N;ENSP00000437283:D94N	ENSP00000337094:D94N	D	-	1	0	TRIM3	6435954	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.398000	0.79919	2.507000	0.84556	0.561000	0.74099	GAT		0.647	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2		NM_006458	
TRIM33	51592	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	114967253	114967253	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:114967253C>A	ENST00000358465.2	-	10	1903	c.1820G>T	c.(1819-1821)gGc>gTc	p.G607V	TRIM33_ENST00000369543.2_Missense_Mutation_p.G607V|TRIM33_ENST00000450349.2_Missense_Mutation_p.G215V	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	607					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATATTGAGGGCCGCTGTGCCT	0.433			T	RET	papillary thyroid																																			Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	0													131.0	120.0	124.0					1																	114967253		2203	4300	6503	SO:0001583	missense	51592			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1820G>T	1.37:g.114967253C>A	ENSP00000351250:p.Gly607Val	Somatic		WXS	Illumina HiSeq	Phase_I	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.87|10.87	1.472895|1.472895	0.26423|0.26423	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543;ENST00000450349	.|T;T;T	.|0.75704	.|-0.78;-0.69;-0.96	5.86|5.86	4.94|4.94	0.65067|0.65067	.|.	.|0.139770	.|0.64402	.|D	.|0.000004	T|T	0.68924|0.68924	0.3054|0.3054	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|B;B;D;D	.|0.57257	.|0.012;0.013;0.979;0.964	.|B;B;P;P	.|0.61658	.|0.008;0.011;0.892;0.784	T|T	0.67465|0.67465	-0.5664|-0.5664	5|10	.|0.13470	.|T	.|0.59	-2.0224|-2.0224	17.2833|17.2833	0.87134|0.87134	0.0:0.8748:0.1252:0.0|0.0:0.8748:0.1252:0.0	.|.	.|215;215;607;607	.|E7EN20;B3KN30;Q9UPN9-2;Q9UPN9	.|.;.;.;TRI33_HUMAN	S|V	344|607;607;215	.|ENSP00000351250:G607V;ENSP00000358556:G607V;ENSP00000412077:G215V	.|ENSP00000351250:G607V	A|G	-|-	1|2	0|0	TRIM33|TRIM33	114768776|114768776	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.958000|0.958000	0.62258|0.62258	5.112000|5.112000	0.64634|0.64634	1.453000|1.453000	0.47775|0.47775	0.650000|0.650000	0.86243|0.86243	GCC|GGC		0.433	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1		NM_015906	
UXS1	80146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	106717553	106717553	+	Silent	SNP	C	C	A			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:106717553C>A	ENST00000409501.3	-	12	987	c.930G>T	c.(928-930)gtG>gtT	p.V310V	UXS1_ENST00000428048.2_Silent_p.V154V|UXS1_ENST00000409032.1_Silent_p.V142V|UXS1_ENST00000283148.7_Silent_p.V315V|UXS1_ENST00000540130.1_Silent_p.V253V			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	310					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TCATGAGAGCCACGAGGCCAT	0.557																																																	0													87.0	91.0	90.0					2																	106717553		2079	4228	6307	SO:0001819	synonymous_variant	80146			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.930G>T	2.37:g.106717553C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NBX3|Q9H5C2	Silent	SNP	ENST00000409501.3	37	CCDS46378.1																																																																																				0.557	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1		NM_025076.3	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191488	10191488	+	Nonsense_Mutation	SNP	C	C	T	rs5030818		TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr3:10191488C>T	ENST00000256474.2	+	3	1321	c.481C>T	c.(481-483)Cga>Tga	p.R161*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Nonsense_Mutation_p.R120*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	161	Interaction with Elongin BC complex.		R -> G (in VHLD; type II; dbSNP:rs5030818).|R -> P (in pheochromocytoma and VHLD; type I). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040}.|R -> Q (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R161*(13)|p.E160fs*9(2)|p.R161del(1)|p.R161fs*13(1)|p.?fs(1)|p.L158fs*6(1)|p.E160fs*13(1)|p.R161fs*9(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCTGAAAGAGCGATGCCTCCA	0.502		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	21	Substitution - Nonsense(13)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Deletion - In frame(1)	kidney(17)|soft_tissue(2)|paratesticular_tissues(1)|pancreas(1)	GRCh37	CM941381|CM961432	VHL	M	rs5030818						91.0	83.0	86.0					3																	10191488		2203	4300	6503	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.481C>T	3.37:g.10191488C>T	ENSP00000256474:p.Arg161*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829386	0.71258	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.86	2.94	0.34122	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8766	11.9485	0.52942	0.3106:0.6894:0.0:0.0	rs5030818	.	.	.	X	161;120;79	.	ENSP00000256474:R161X	R	+	1	2	VHL	10166488	0.997000	0.39634	0.933000	0.37362	0.704000	0.40688	1.161000	0.31773	1.416000	0.47057	-0.122000	0.15005	CGA		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WDR46	9277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33254931	33254931	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:33254931C>T	ENST00000374617.4	-	9	1308	c.952G>A	c.(952-954)Ggg>Agg	p.G318R	WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000463584.1_5'Flank|PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000374607.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	318							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TCGAGCCGCCCAGCTCGAGCA	0.502																																																	0													96.0	96.0	96.0					6																	33254931		2203	4300	6503	SO:0001583	missense	9277			Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.952G>A	6.37:g.33254931C>T	ENSP00000363746:p.Gly318Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770513	0.90108	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.19669	4.86;2.13	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.53158	-0.8478	10	0.87932	D	0	-15.8324	15.7036	0.77560	0.0:1.0:0.0:0.0	.	264;318	B4DP15;O15213	.;WDR46_HUMAN	R	318;245	ENSP00000363746:G318R;ENSP00000405568:G245R	ENSP00000363746:G318R	G	-	1	0	WDR46	33362909	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.535000	0.73838	2.555000	0.86185	0.549000	0.68633	GGG		0.502	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2		NM_005452	
WDR66	144406	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	122369710	122369710	+	Missense_Mutation	SNP	A	A	T	rs556933458	byFrequency	TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:122369710A>T	ENST00000288912.4	+	4	1660	c.806A>T	c.(805-807)gAa>gTa	p.E269V	WDR66_ENST00000397454.2_Missense_Mutation_p.E269V	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	269							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ATTCGAGAGGAAAGGCAGAGA	0.453																																					Esophageal Squamous(85;849 1794 49757 52143)												0													147.0	134.0	138.0					12																	122369710		1958	4164	6122	SO:0001583	missense	144406			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.806A>T	12.37:g.122369710A>T	ENSP00000288912:p.Glu269Val	Somatic		WXS	Illumina HiSeq	Phase_I	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.983723	0.53827	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.05786	3.4;3.39	4.82	3.66	0.41972	.	0.836583	0.10857	N	0.626556	T	0.11665	0.0284	M	0.71581	2.175	0.20489	N	0.999899	P	0.40794	0.729	B	0.42555	0.391	T	0.15607	-1.0431	10	0.35671	T	0.21	.	9.6826	0.40078	0.9147:0.0:0.0852:0.0	.	269	Q8TBY9	WDR66_HUMAN	V	269	ENSP00000288912:E269V;ENSP00000380595:E269V	ENSP00000288912:E269V	E	+	2	0	WDR66	120854093	0.599000	0.26891	0.002000	0.10522	0.942000	0.58702	1.772000	0.38552	0.680000	0.31366	0.402000	0.26972	GAA		0.453	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1		NM_144668	
WDR83	84292	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	12783897	12783897	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:12783897T>A	ENST00000418543.3	+	9	999	c.650T>A	c.(649-651)cTc>cAc	p.L217H	WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000596731.1_5'Flank|WDR83_ENST00000242796.4_Missense_Mutation_p.L217H	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	217					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						ACATTGCGGCTCCTGGACAAA	0.657																																																	0													63.0	69.0	67.0					19																	12783897		2203	4300	6503	SO:0001583	missense	84292			AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.650T>A	19.37:g.12783897T>A	ENSP00000402653:p.Leu217His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	37	CCDS12275.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.8|25.8	4.675017|4.675017	0.88445|0.88445	.|.	.|.	ENSG00000123154|ENSG00000123154	ENST00000418543;ENST00000242796|ENST00000547797	D;D|.	0.84516|.	-1.86;-1.86|.	5.43|5.43	5.43|5.43	0.79202|0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88727|0.88727	0.6515|0.6515	H|H	0.98664|0.98664	4.295|4.295	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.92854|0.92854	0.6300|0.6300	10|5	0.87932|.	D|.	0|.	.|.	14.4605|14.4605	0.67445|0.67445	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	217|.	Q9BRX9|.	WDR83_HUMAN|.	H|T	217|149	ENSP00000402653:L217H;ENSP00000242796:L217H|.	ENSP00000242796:L217H|.	L|S	+|+	2|1	0|0	WDR83|WDR83	12644897|12644897	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.392000|7.392000	0.79840|0.79840	2.061000|2.061000	0.61500|0.61500	0.459000|0.459000	0.35465|0.35465	CTC|TCC		0.657	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1		NM_032332	
ZKSCAN3	80317	hgsc.bcm.edu;ucsc.edu	37	6	28334004	28334004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:28334004delT	ENST00000377255.3	+	7	1856	c.1559delT	c.(1558-1560)attfs	p.I520fs	ZKSCAN3_ENST00000252211.2_Frame_Shift_Del_p.I520fs|ZKSCAN3_ENST00000341464.5_Frame_Shift_Del_p.I372fs	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	520					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TTCACCCGAATTTCATACCTT	0.433																																																	0													110.0	109.0	109.0					6																	28334004		2203	4300	6503	SO:0001589	frameshift_variant	80317			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1559delT	6.37:g.28334004delT	ENSP00000366465:p.Ile520fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Frame_Shift_Del	DEL	ENST00000377255.3	37	CCDS4650.1																																																																																				0.433	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3		NM_024493	
ZNF600	162966	hgsc.bcm.edu;ucsc.edu	37	19	53270877	53270877	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:53270877delA	ENST00000338230.3	-	3	399	c.132delT	c.(130-132)attfs	p.I44fs		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	44					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(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACTGAAACTCAATATCATGAA	0.378																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												0													152.0	157.0	156.0					19																	53270877		2203	4300	6503	SO:0001589	frameshift_variant	162966			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.132delT	19.37:g.53270877delA	ENSP00000344791:p.Ile44fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6MZR0	Frame_Shift_Del	DEL	ENST00000338230.3	37	CCDS12856.1																																																																																				0.378	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1		NM_198457	
ZNF646	9726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31089750	31089751	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:31089750_31089751insT	ENST00000394979.2	+	1	2528_2529	c.2105_2106insT	c.(2104-2109)aatgaafs	p.E703fs	ZNF646_ENST00000300850.5_Frame_Shift_Ins_p.E703fs			O15015	ZN646_HUMAN	zinc finger protein 646	703					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTAGAAGACAATGAAGGCCTGG	0.619																																																	0																																										SO:0001589	frameshift_variant	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2106dupT	16.37:g.31089751_31089751dupT	ENSP00000378429:p.Glu703fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IVD8	Frame_Shift_Ins	INS	ENST00000394979.2	37																																																																																					0.619	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2		NM_014699	
ANKRD13B	124930	broad.mit.edu	37	17	27934892	27934892	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:27934892A>G	ENST00000394859.3	+	2	401	c.247A>G	c.(247-249)Aca>Gca	p.T83A	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	83						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CAGCGGCTGGACAGGTGGGCA	0.687																																																	0													20.0	25.0	24.0					17																	27934892		2186	4280	6466	SO:0001583	missense	124930			AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.247A>G	17.37:g.27934892A>G	ENSP00000378328:p.Thr83Ala	Somatic		WXS	Illumina GAIIx	Phase_I	Q8N7S9	Missense_Mutation	SNP	ENST00000394859.3	37	CCDS11251.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.612391	0.66672	.	.	ENSG00000198720	ENST00000394859	T	0.80123	-1.34	5.8	5.8	0.92144	Ankyrin repeat-containing domain (4);	0.045148	0.85682	D	0.000000	D	0.86062	0.5843	M	0.82716	2.605	0.80722	D	1	B	0.31153	0.31	B	0.42245	0.381	D	0.85059	0.0933	10	0.42905	T	0.14	-7.6413	15.8146	0.78589	1.0:0.0:0.0:0.0	.	83	Q86YJ7	AN13B_HUMAN	A	83	ENSP00000378328:T83A	ENSP00000378328:T83A	T	+	1	0	ANKRD13B	24959018	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.327000	0.79147	2.211000	0.71520	0.459000	0.35465	ACA		0.687	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1		NM_152345	
COL5A3	50509	broad.mit.edu	37	19	10116808	10116808	+	Missense_Mutation	SNP	C	C	T	rs144021089		TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:10116808C>T	ENST00000264828.3	-	2	273	c.188G>A	c.(187-189)cGg>cAg	p.R63Q		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	63	Laminin G-like.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTGAATGCCCGGTCACCCTC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		14806	0.001		0.0	False		,,,				2504	0.0																0								C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	31.0	30.0	30.0		188	0.3	1.0	19	dbSNP_134	30	0,8600		0,0,4300	no	missense	COL5A3	NM_015719.3	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	63/1746	10116808	2,13004	2203	4300	6503	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.188G>A	19.37:g.10116808C>T	ENSP00000264828:p.Arg63Gln	Somatic		WXS	Illumina GAIIx	Phase_I	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	8.896	0.955103	0.18507	4.54E-4	0.0	ENSG00000080573	ENST00000264828	T	0.79033	-1.23	4.02	0.303	0.15791	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.652929	0.13193	N	0.406600	T	0.60051	0.2239	L	0.34521	1.04	0.23391	N	0.997775	B	0.13145	0.007	B	0.04013	0.001	T	0.41233	-0.9520	10	0.27785	T	0.31	.	3.0824	0.06266	0.2056:0.5383:0.0:0.256	.	63	P25940	CO5A3_HUMAN	Q	63	ENSP00000264828:R63Q	ENSP00000264828:R63Q	R	-	2	0	COL5A3	9977808	0.956000	0.32656	0.984000	0.44739	0.140000	0.21249	0.933000	0.28897	0.326000	0.23384	-0.362000	0.07510	CGG		0.657	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1		NM_015719	
ESPNP	284729	broad.mit.edu	37	1	17023321	17023321	+	RNA	SNP	T	T	G			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:17023321T>G	ENST00000492551.1	-	0	1626					NR_026567.1				espin pseudogene																		GTCAGCCCCTTGCTCTGTGGC	0.637																																																	0																																												284729			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023321T>G		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000492551.1	37																																																																																					0.637	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T	rs184555335	byFrequency	TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413													.|||	2313	0.461861	0.4849	0.4121	5008	,	,		9054	0.4554		0.4632	False		,,,				2504	0.4714																0																																												374650																															15.37:g.85053142C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000414190.2	37																																																																																					0.413	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			
PTGES	9536	broad.mit.edu	37	9	132502051	132502051	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr9:132502051A>C	ENST00000340607.4	-	3	332	c.298T>G	c.(298-300)Tgg>Ggg	p.W100G	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	100					acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)			lung(1)|skin(1)	2		Ovarian(14;0.00556)				AAGTGCATCCAGGCGACAAAA	0.617																																																	0													75.0	54.0	61.0					9																	132502051		2198	4291	6489	SO:0001583	missense	9536			AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"""microsomal glutathione S-transferase 1-like 1"", ""tumor protein p53 inducible protein 12"", ""p53-induced gene 12"", ""microsomal prostaglandin E synthase-1"", ""glutathione S-transferase 1-like 1"", ""MGST1-like 1"""	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.298T>G	9.37:g.132502051A>C	ENSP00000342385:p.Trp100Gly	Somatic		WXS	Illumina GAIIx	Phase_I	O14900|Q5SZC0	Missense_Mutation	SNP	ENST00000340607.4	37	CCDS6927.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001239	0.35320	.	.	ENSG00000148344	ENST00000340607	T	0.58060	0.36	4.67	1.34	0.21922	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.427699	0.26116	N	0.026259	T	0.35278	0.0926	L	0.29908	0.895	0.29400	N	0.861973	B	0.24043	0.096	B	0.28011	0.085	T	0.29427	-1.0012	10	0.87932	D	0	-4.3412	3.4581	0.07523	0.4618:0.0:0.2677:0.2705	.	100	O14684	PTGES_HUMAN	G	100	ENSP00000342385:W100G	ENSP00000342385:W100G	W	-	1	0	PTGES	131541872	0.996000	0.38824	0.969000	0.41365	0.949000	0.60115	1.483000	0.35497	0.336000	0.23639	0.459000	0.35465	TGG		0.617	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054599.2		NM_004878	
RPLP0P2	113157	broad.mit.edu	37	11	61404307	61404307	+	RNA	SNP	G	G	T			TCGA-A3-3383-01A-01D-0966-08	TCGA-A3-3383-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea06f57-c7fa-4881-b9c0-dd3f9c1c4ca0	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:61404307G>T	ENST00000496593.1	+	0	911					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		GCAAGGCCGTGGTGCTGATGG	0.552																																																	0																																												113157			BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61404307G>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000496593.1	37																																																																																					0.552	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1		NR_002775	
