#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CA10	56934	broad.mit.edu	37	17	49710999	49710999	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:49710999G>A	ENST00000285273.4	-	9	1913	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	CA10_ENST00000340813.6_Missense_Mutation_p.R274C|CA10_ENST00000442502.2_Missense_Mutation_p.R268C|CA10_ENST00000571918.1_5'Flank|CA10_ENST00000451037.2_Missense_Mutation_p.R268C|CA10_ENST00000570565.1_Missense_Mutation_p.R193C	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	268					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	CTGAGCAGGCGCAAGGAATGC	0.512																																						ENST00000451037.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(802-804)Cgc>Tgc		carbonic anhydrase X							83.0	72.0	76.0					17																	49710999		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:49710999G>A	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.802C>T	17.37:g.49710999G>A	ENSP00000285273:p.Arg268Cys					CA10_ENST00000340813.6_Missense_Mutation_p.R274C|CA10_ENST00000442502.2_Missense_Mutation_p.R268C|CA10_ENST00000570565.1_Missense_Mutation_p.R193C|CA10_ENST00000285273.4_Missense_Mutation_p.R268C	p.R268C	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		8	1742	-			268					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.802C>T	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995344	0.74703	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.44	3.27	0.37495	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.057228	0.64402	N	0.000002	D	0.85199	0.5642	M	0.93241	3.395	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	0.85392	0.1126	10	0.87932	D	0	.	6.7148	0.23296	0.0862:0.0:0.6211:0.2928	.	268;274;193	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	C	268;268;268;274	ENSP00000390666:R268C;ENSP00000285273:R268C;ENSP00000405388:R268C;ENSP00000340363:R274C	ENSP00000285273:R268C	R	-	1	0	CA10	47065998	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.046000	0.49846	1.234000	0.43709	0.655000	0.94253	CGC		0.512	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		10	66	0	0	0	1	0	10	66				
RPS6KA1	6195	broad.mit.edu	37	1	26883148	26883148	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr1:26883148C>T	ENST00000374168.2	+	12	1074	c.920C>T	c.(919-921)tCc>tTc	p.S307F	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S316F|RPS6KA1_ENST00000488985.1_3'UTR|MIR1976_ENST00000459548.1_RNA|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S296F|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S291F|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S215F|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S215F	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	307	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTTTCAGGCTCCGGCCCTGAT	0.592																																						ENST00000374168.2																			0				lung(1)	1						c.(919-921)tCc>tTc		ribosomal protein S6 kinase, 90kDa, polypeptide 1							101.0	93.0	96.0					1																	26883148		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26883148C>T	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.920C>T	1.37:g.26883148C>T	ENSP00000363283:p.Ser307Phe					RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S215F|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S291F|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S215F|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S316F|RPS6KA1_ENST00000488985.1_3'UTR|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S296F	p.S307F	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	12	1074	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	307			Protein kinase 1.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.920C>T	CCDS284.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995402	0.93167	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	N	0.21097	0.63	0.80722	D	1	B;B;D	0.67145	0.036;0.201;0.996	B;B;D	0.79784	0.099;0.089;0.993	T	0.66650	-0.5870	10	0.87932	D	0	.	19.875	0.96867	0.0:1.0:0.0:0.0	.	291;316;307	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	F	307;296;215;215;291;27;316	ENSP00000363283:S307F;ENSP00000363281:S296F;ENSP00000431651:S215F;ENSP00000363277:S215F;ENSP00000432281:S291F;ENSP00000435412:S316F	ENSP00000363277:S215F	S	+	2	0	RPS6KA1	26755735	1.000000	0.71417	0.977000	0.42913	0.966000	0.64601	7.484000	0.81180	2.692000	0.91855	0.655000	0.94253	TCC		0.592	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		20	52	0	0	0	1	0	20	52				
TUBB8P7	197331	broad.mit.edu	37	16	90162338	90162338	+	RNA	SNP	T	T	C			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr16:90162338T>C	ENST00000564451.1	+	0	1691				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		GACATCCCACTCCGGGGGCTA	0.483																																						ENST00000567960.1																			0																																																			0							g.chr16:90162338T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162338T>C						TUBB8P7_ENST00000564451.1_RNA								0	1074	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	107	0	0	0	1	0	4	107				
TTN	7273	broad.mit.edu	37	2	179554578	179554578	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr2:179554578A>G	ENST00000591111.1	-	120	31081	c.30857T>C	c.(30856-30858)gTt>gCt	p.V10286A	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V10603A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V9359A			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAACAGGAACGGGAATCTT	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(31807-31809)gTt>gCt		titin							178.0	172.0	174.0					2																	179554578		1835	4086	5921	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179554578A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30857T>C	2.37:g.179554578A>G	ENSP00000465570:p.Val10286Ala					TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V9359A|TTN_ENST00000591111.1_Missense_Mutation_p.V10286A|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA	p.V10603A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		122	32032	-			10286			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.31808T>C		.	.	.	.	.	.	.	.	.	.	A	12.79	2.044962	0.36085	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T;T	0.66815	-0.23;-0.23	5.53	5.53	0.82687	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.59595	0.2205	L	0.60067	1.865	0.80722	D	1	B;P	0.37731	0.002;0.607	B;B	0.33690	0.011;0.168	T	0.65405	-0.6176	9	0.87932	D	0	.	9.3196	0.37955	0.9191:0.0:0.0809:0.0	.	10286;10286	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	A	9359;481;113	ENSP00000343764:V9359A;ENSP00000401501:V481A	ENSP00000343764:V9359A	V	-	2	0	TTN	179262823	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	0.713000	0.25794	2.225000	0.72522	0.533000	0.62120	GTT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	169	0	0	0	1	0	13	169				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	52	0	0	0	1	0	5	52				
LILRA5	353514	broad.mit.edu	37	19	54822890	54822890	+	Missense_Mutation	SNP	T	T	G	rs200805419		TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:54822890T>G	ENST00000301219.3	-	5	625	c.506A>C	c.(505-507)gAc>gCc	p.D169A	LILRA5_ENST00000446712.3_Missense_Mutation_p.D157A|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.D157A|LILRA5_ENST00000432233.3_Missense_Mutation_p.D169A	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	169	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AATGAACCTGTCGAATCTCAG	0.587																																						ENST00000301219.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(505-507)gAc>gCc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5							65.0	64.0	65.0					19																	54822890		2203	4300	6503	SO:0001583	missense	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54822890T>G	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.506A>C	19.37:g.54822890T>G	ENSP00000301219:p.Asp169Ala					LILRA5_ENST00000346508.3_Missense_Mutation_p.D157A|LILRA5_ENST00000432233.3_Missense_Mutation_p.D169A|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.D157A	p.D169A	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	625	-	Ovarian(34;0.19)		169			Ig-like C2-type 2.		A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	c.506A>C	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	T	9.535	1.111769	0.20714	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.02763	4.17;4.17;4.17;4.17	3.14	-5.81	0.02340	Immunoglobulin-like fold (1);	2.440830	0.02224	U	0.064238	T	0.06188	0.0160	H	0.95114	3.625	0.09310	N	1	P;P;P;B	0.45594	0.54;0.862;0.715;0.195	B;B;B;B	0.30943	0.106;0.122;0.106;0.054	T	0.50048	-0.8873	10	0.51188	T	0.08	.	4.8372	0.13471	0.0:0.34:0.3072:0.3528	.	157;169;157;169	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	A	169;157;157;169	ENSP00000301219:D169A;ENSP00000302948:D157A;ENSP00000389499:D157A;ENSP00000404236:D169A	ENSP00000301219:D169A	D	-	2	0	LILRA5	59514702	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	0.301000	0.19174	-1.084000	0.03092	0.172000	0.16884	GAC		0.587	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		34	58	0	0	0	1	0	34	58				
MGAM	8972	broad.mit.edu	37	7	141767225	141767225	+	Intron	SNP	C	C	T	rs7778384	byFrequency	TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr7:141767225C>T	ENST00000549489.2	+	38	4713				MGAM_ENST00000475668.2_Splice_Site_p.R1668R	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTGGAGCGCGTGAGTATGG	0.592													c|||	29	0.00579073	0.0121	0.0086	5008	,	,		14537	0.001		0.004	False		,,,				2504	0.002					ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.e42+1		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						68.0	55.0	59.0					7																	141767225		874	1947	2821	SO:0001627	intron_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141767225C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4618+1957C>T	7.37:g.141767225C>T						MGAM_ENST00000549489.2_Intron	p.R1668_splice			O43451	MGA_HUMAN			42	5058	+	Melanoma(164;0.0272)		1668			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	ENST00000549489.2	37	c.5004_splice	CCDS47727.1																																																																																				0.592	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			3	23	0	0	0	1	0	3	23				
FAT2	2196	broad.mit.edu	37	5	150923936	150923936	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr5:150923936C>G	ENST00000261800.5	-	9	6764	c.6752G>C	c.(6751-6753)gGg>gCg	p.G2251A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2251	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAAATGACCCCAGAGCTGT	0.478																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6751-6753)gGg>gCg		FAT atypical cadherin 2							98.0	99.0	99.0					5																	150923936		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150923936C>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6752G>C	5.37:g.150923936C>G	ENSP00000261800:p.Gly2251Ala						p.G2251A	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6764	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2251			Cadherin 19.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6752G>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851197	0.71719	.	.	ENSG00000086570	ENST00000261800	T	0.52295	0.67	5.68	5.68	0.88126	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.66877	0.2834	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61816	-0.6985	10	0.35671	T	0.21	.	19.7989	0.96497	0.0:1.0:0.0:0.0	.	2251	Q9NYQ8	FAT2_HUMAN	A	2251	ENSP00000261800:G2251A	ENSP00000261800:G2251A	G	-	2	0	FAT2	150904129	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.747000	0.85070	2.683000	0.91414	0.561000	0.74099	GGG		0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		13	41	0	0	0	1	0	13	41				
SBSN	374897	broad.mit.edu	37	19	36018836	36018836	+	Silent	SNP	G	G	A			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:36018836G>A	ENST00000452271.2	-	1	376	c.348C>T	c.(346-348)ggC>ggT	p.G116G	SBSN_ENST00000518157.1_Silent_p.G116G	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	116	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGACCCCATGGCCAAGCTTCT	0.572																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(346-348)ggC>ggT		suprabasin							206.0	193.0	197.0					19																	36018836		2203	4300	6503	SO:0001819	synonymous_variant	374897					extracellular region		g.chr19:36018836G>A	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.348C>T	19.37:g.36018836G>A						SBSN_ENST00000518157.1_Silent_p.G116G	p.G116G	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	376	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		116			Ala/Gly/His-rich.		A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	c.348C>T	CCDS54253.1																																																																																				0.572	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		10	170	0	0	0	1	0	10	170				
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr12:113515335T>G	ENST00000257600.3	+	2	869	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	122	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(364-366)gaT>gaG		deltex homolog 1 (Drosophila)							102.0	80.0	87.0					12																	113515335		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113515335T>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.366T>G	12.37:g.113515335T>G	ENSP00000257600:p.Asp122Glu						p.D122E	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			2	869	+			122			WWE 2.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.366T>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	T	8.577	0.881366	0.17467	.	.	ENSG00000135144	ENST00000257600	T	0.36157	1.27	3.13	2.21	0.28008	WWE domain (2);WWE domain, subgroup (1);	0.133606	0.47455	D	0.000233	T	0.34513	0.0900	L	0.45352	1.415	0.40375	D	0.979381	D	0.59767	0.986	P	0.55923	0.787	T	0.36407	-0.9749	10	0.08179	T	0.78	-11.4703	6.2807	0.21005	0.0:0.7501:0.0:0.2499	.	122	Q86Y01	DTX1_HUMAN	E	122	ENSP00000257600:D122E	ENSP00000257600:D122E	D	+	3	2	DTX1	111999718	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.418000	0.52721	0.496000	0.27904	-0.483000	0.04790	GAT		0.622	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			4	75	0	0	0	1	0	4	75				
KIAA2026	158358	broad.mit.edu	37	9	5920338	5920338	+	Silent	SNP	A	A	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr9:5920338A>T	ENST00000399933.3	-	8	5657	c.5658T>A	c.(5656-5658)ccT>ccA	p.P1886P	KIAA2026_ENST00000381461.2_Silent_p.P1856P	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1886										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCTGAGTACCAGGTGCCAAAG	0.428																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(5656-5658)ccT>ccA		KIAA2026							162.0	161.0	161.0					9																	5920338		1933	4142	6075	SO:0001819	synonymous_variant	158358							g.chr9:5920338A>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5658T>A	9.37:g.5920338A>T						KIAA2026_ENST00000381461.2_Silent_p.P1856P	p.P1886P	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	5657	-		Acute lymphoblastic leukemia(23;0.158)	1886					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.5658T>A																																																																																					0.428	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		4	185	0	0	0	1	0	4	185				
ARHGEF1	9138	broad.mit.edu	37	19	42409353	42409353	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:42409353C>T	ENST00000354532.3	+	24	2424	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.A815V|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.A741V|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.A774V|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.A726V	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	759	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACTGAGACTGCCGGATCCCTG	0.662																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2443-2445)gCc>gTc		Rho guanine nucleotide exchange factor (GEF) 1							60.0	58.0	59.0					19																	42409353		2203	4300	6503	SO:0001583	missense	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42409353C>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2276C>T	19.37:g.42409353C>T	ENSP00000346532:p.Ala759Val					ARHGEF1_ENST00000378152.4_Missense_Mutation_p.A741V|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.A759V|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.A726V|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.A774V	p.A815V			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	25	2569	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	759					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.2444C>T	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740748	0.69304	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	3.93	3.93	0.45458	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.078909	0.49916	D	0.000124	T	0.56062	0.1960	N	0.24115	0.695	0.42436	D	0.992693	P;P;D;P	0.69078	0.558;0.686;0.997;0.791	B;B;P;B	0.55871	0.028;0.066;0.786;0.055	T	0.51426	-0.8707	10	0.07325	T	0.83	-9.7457	13.8408	0.63437	0.0:1.0:0.0:0.0	.	741;774;726;759	Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;ARHG1_HUMAN	V	759;726;774;741	ENSP00000346532:A759V;ENSP00000344429:A726V;ENSP00000337261:A774V;ENSP00000367394:A741V	ENSP00000337261:A774V	A	+	2	0	ARHGEF1	47101193	0.985000	0.35326	0.959000	0.39883	0.968000	0.65278	3.596000	0.54024	1.917000	0.55516	0.555000	0.69702	GCC		0.662	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		4	89	0	0	0	1	0	4	89				
TRBV6-7	28600	broad.mit.edu	37	7	142143906	142143906	+	RNA	SNP	G	G	C			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr7:142143906G>C	ENST00000390373.2	-	0	89									T cell receptor beta variable 6-7 (non-functional)																		TCTTCAGGACGTGGAATTTTG	0.527																																						ENST00000390373.2																			0																																																			0							g.chr7:142143906G>C	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253188	ENSG00000253188		"""T cell receptors / TRB locus"""	12232	other	T cell receptor gene			"""T cell receptor beta variable 6-7"""			8650574	Standard	NG_001333		Approved	TRBV67, TCRBV13S8P, TCRBV6S7			OTTHUMG00000158511		7.37:g.142143906G>C														0	89	-									RNA	SNP	ENST00000390373.2	37																																																																																						0.527	TRBV6-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351217.2	NG_001333		7	86	0	0	0	1	0	7	86				
DNAH17	8632	broad.mit.edu	37	17	76563157	76563157	+	Missense_Mutation	SNP	C	C	T	rs143602861		TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:76563157C>T	ENST00000585328.1	-	10	1500	c.1376G>A	c.(1375-1377)cGt>cAt	p.R459H	DNAH17_ENST00000389840.5_Missense_Mutation_p.R459H	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	459	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATCATAGATACGGGTCACCAG	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19001	0.0		0.0	False		,,,				2504	0.0					ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1375-1377)cGt>cAt		dynein, axonemal, heavy chain 17		C	HIS/ARG	11,4395	17.9+/-39.9	0,11,2192	64.0	53.0	57.0		1376	3.8	0.0	17	dbSNP_134	57	0,8598		0,0,4299	yes	missense	DNAH17	NM_173628.3	29	0,11,6491	TT,TC,CC		0.0,0.2497,0.0846	benign	459/4463	76563157	11,12993	2203	4299	6502	SO:0001583	missense	8632							g.chr17:76563157C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1376G>A	17.37:g.76563157C>T	ENSP00000465516:p.Arg459His					DNAH17_ENST00000585328.1_Missense_Mutation_p.R459H	p.R459H					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		10	1500	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1376G>A		.	.	.	.	.	.	.	.	.	.	C	6.661	0.490524	0.12702	0.002497	0.0	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.56275	0.47	4.92	3.84	0.44239	.	0.207650	0.24134	N	0.041231	T	0.36635	0.0974	N	0.24115	0.695	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.27806	-1.0063	10	0.52906	T	0.07	.	9.0902	0.36605	0.0:0.0861:0.0:0.9139	.	161	Q9UFH2-4	.	H	459	ENSP00000374490:R459H	ENSP00000300671:R459H	R	-	2	0	DNAH17	74074752	0.972000	0.33761	0.017000	0.16124	0.041000	0.13682	0.979000	0.29500	0.849000	0.35215	-0.340000	0.08031	CGT		0.527	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		3	28	0	0	0	1	0	3	28				
GPS1	2873	broad.mit.edu	37	17	80013939	80013939	+	Silent	SNP	G	G	A			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:80013939G>A	ENST00000306823.6	+	8	932	c.909G>A	c.(907-909)cgG>cgA	p.R303R	GPS1_ENST00000320548.4_Silent_p.R283R|GPS1_ENST00000578552.1_Silent_p.R299R|GPS1_ENST00000392358.2_Silent_p.R339R|GPS1_ENST00000355130.2_Silent_p.R339R			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	303					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCTTTGACCGGCAGGAGCTGC	0.652																																						ENST00000392358.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13						c.(1015-1017)cgG>cgA		G protein pathway suppressor 1							36.0	30.0	32.0					17																	80013939		2201	4298	6499	SO:0001819	synonymous_variant	2873				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	g.chr17:80013939G>A		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"""COP9 signalosome subunit 1"""	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.909G>A	17.37:g.80013939G>A						GPS1_ENST00000306823.6_Silent_p.R303R|GPS1_ENST00000355130.2_Silent_p.R339R|GPS1_ENST00000320548.4_Silent_p.R283R|GPS1_ENST00000578552.1_Silent_p.R299R	p.R339R	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		8	1366	+	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		303			PCI.		Q8NA10|Q9BWL1	Silent	SNP	ENST00000306823.6	37	c.1017G>A	CCDS32774.1																																																																																				0.652	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		4	39	0	0	0	1	0	4	39				
CELSR2	1952	broad.mit.edu	37	1	109794553	109794553	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr1:109794553C>T	ENST00000271332.3	+	1	1913	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	618	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTACACAGTGCGGCTCAATGA	0.562																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(1852-1854)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 2							171.0	150.0	157.0					1																	109794553		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794553C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1852C>T	1.37:g.109794553C>T	ENSP00000271332:p.Arg618Trp						p.R618W	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1913	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	618			Cadherin 5.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.1852C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	17.72	3.460010	0.63401	.	.	ENSG00000143126	ENST00000271332	T	0.01804	4.63	4.95	4.02	0.46733	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.04724	0.0128	M	0.71871	2.18	0.48511	D	0.999667	D	0.89917	1.0	D	0.85130	0.997	T	0.43491	-0.9388	9	0.38643	T	0.18	.	14.5643	0.68165	0.1552:0.8448:0.0:0.0	.	618	Q9HCU4	CELR2_HUMAN	W	618	ENSP00000271332:R618W	ENSP00000271332:R618W	R	+	1	2	CELSR2	109596076	0.997000	0.39634	0.999000	0.59377	0.944000	0.59088	0.713000	0.25794	1.292000	0.44672	0.650000	0.86243	CGG		0.562	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	113	0	0	0	1	0	4	113				
KIF1A	547	broad.mit.edu	37	2	241689870	241689870	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr2:241689870G>A	ENST00000320389.7	-	26	2808	c.2650C>T	c.(2650-2652)Cgc>Tgc	p.R884C	KIF1A_ENST00000498729.2_Missense_Mutation_p.R985C	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	884					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACGGCCACGCGGAGGAAGCCC	0.657																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(2953-2955)Cgc>Tgc		kinesin family member 1A							57.0	65.0	62.0					2																	241689870		2168	4270	6438	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241689870G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2650C>T	2.37:g.241689870G>A	ENSP00000322791:p.Arg884Cys					KIF1A_ENST00000320389.7_Missense_Mutation_p.R884C	p.R985C	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	28	3199	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	884					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.2953C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234005	0.79688	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76839	-1.05;-1.05;-1.05	4.43	4.43	0.53597	.	0.000000	0.85682	U	0.000000	D	0.88811	0.6538	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.921;0.997;0.95	D	0.91040	0.4870	10	0.87932	D	0	.	17.0541	0.86529	0.0:0.0:1.0:0.0	.	985;985;884	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	C	884;985;985;985	ENSP00000322791:R884C;ENSP00000438388:R985C;ENSP00000384231:R985C	ENSP00000322791:R884C	R	-	1	0	KIF1A	241338543	1.000000	0.71417	0.985000	0.45067	0.793000	0.44817	4.852000	0.62904	2.017000	0.59298	0.491000	0.48974	CGC		0.657	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		9	40	0	0	0	1	0	9	40				
ZBTB4	57659	broad.mit.edu	37	17	7366351	7366351	+	Missense_Mutation	SNP	C	C	A	rs375158389		TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:7366351C>A	ENST00000311403.4	-	4	2289	c.1950G>T	c.(1948-1950)gaG>gaT	p.E650D	ZBTB4_ENST00000380599.4_Missense_Mutation_p.E650D	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	650	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		cctcctcatcctcctcctcct	0.607																																						ENST00000311403.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(1948-1950)gaG>gaT		zinc finger and BTB domain containing 4							61.0	48.0	53.0					17																	7366351		2203	4300	6503	SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7366351C>A	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1950G>T	17.37:g.7366351C>A	ENSP00000307858:p.Glu650Asp					ZBTB4_ENST00000380599.4_Missense_Mutation_p.E650D	p.E650D	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	2289	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	650			Glu-rich.		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.1950G>T	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015816	0.35606	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.16743	2.32;2.32	5.08	-1.9	0.07665	.	0.086238	0.45606	D	0.000345	T	0.10078	0.0247	L	0.44542	1.39	0.23831	N	0.996721	B	0.06786	0.001	B	0.06405	0.002	T	0.37572	-0.9700	10	0.13470	T	0.59	-13.4295	6.1202	0.20150	0.0:0.5071:0.2329:0.2601	.	650	Q9P1Z0	ZBTB4_HUMAN	D	650	ENSP00000307858:E650D;ENSP00000369973:E650D	ENSP00000307858:E650D	E	-	3	2	ZBTB4	7307075	0.978000	0.34361	0.731000	0.30826	0.595000	0.36748	-0.008000	0.12788	-0.451000	0.07097	0.462000	0.41574	GAG		0.607	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		4	41	1	0	2.56e-06	1	2.71059e-06	4	41				
TNFAIP1	7126	broad.mit.edu	37	17	26666643	26666643	+	Silent	SNP	C	C	A			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:26666643C>A	ENST00000226225.2	+	2	363	c.96C>A	c.(94-96)ctC>ctA	p.L32L	TNFAIP1_ENST00000544907.2_Intron|TNFAIP1_ENST00000583213.1_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	32	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ATGTCCAGCTCAACGTGGGCG	0.637																																						ENST00000226225.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12						c.(94-96)ctC>ctA		tumor necrosis factor, alpha-induced protein 1 (endothelial)							96.0	82.0	87.0					17																	26666643		2203	4300	6503	SO:0001819	synonymous_variant	7126				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr17:26666643C>A		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.96C>A	17.37:g.26666643C>A						TNFAIP1_ENST00000583213.1_Intron|TNFAIP1_ENST00000544907.2_Intron	p.L32L	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	363	+	all_lung(13;0.000294)|Lung NSC(42;0.000964)		32			BTB.		B7Z6M4|Q5TZQ1	Silent	SNP	ENST00000226225.2	37	c.96C>A	CCDS11227.1																																																																																				0.637	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137		24	64	1	0	2.32416e-17	1	2.56132e-17	24	64				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	40	0	0	0	1	0	15	40				
C19orf47	126526	broad.mit.edu	37	19	40828229	40828229	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:40828229C>A	ENST00000582783.1	-	9	841	c.829G>T	c.(829-831)Gct>Tct	p.A277S	C19orf47_ENST00000392035.2_Missense_Mutation_p.A210S|C19orf47_ENST00000584868.1_5'UTR	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	277						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CTGTCCCAAGCCAGATCCTCG	0.612																																						ENST00000582783.1																			0				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(829-831)Gct>Tct		chromosome 19 open reading frame 47							32.0	34.0	33.0					19																	40828229		2203	4300	6503	SO:0001583	missense	126526							g.chr19:40828229C>A	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.829G>T	19.37:g.40828229C>A	ENSP00000463159:p.Ala277Ser					C19orf47_ENST00000584868.1_5'UTR|C19orf47_ENST00000392035.2_Missense_Mutation_p.A210S	p.A277S	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		9	841	-			277					Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	37	c.829G>T	CCDS58662.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712113	0.48517	.	.	ENSG00000160392	ENST00000357884;ENST00000392035	.	.	.	5.57	5.57	0.84162	.	0.611666	0.18090	N	0.152022	T	0.46639	0.1403	M	0.63428	1.95	0.21416	N	0.999695	P	0.36837	0.571	B	0.33392	0.163	T	0.44050	-0.9353	9	0.23302	T	0.38	-17.3045	18.3148	0.90217	0.0:1.0:0.0:0.0	.	277	Q8N9M1	CS047_HUMAN	S	277;210	.	ENSP00000350556:A277S	A	-	1	0	C19orf47	45520069	0.932000	0.31603	0.996000	0.52242	0.978000	0.69477	4.178000	0.58284	2.619000	0.88677	0.561000	0.74099	GCT		0.612	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		16	35	1	0	1.37285e-15	1	1.48268e-15	16	35				
LRRIQ1	84125	broad.mit.edu	37	12	85450803	85450803	+	Silent	SNP	C	C	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr12:85450803C>T	ENST00000393217.2	+	8	2293	c.2232C>T	c.(2230-2232)gcC>gcT	p.A744A		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	744										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGAGACTAGCCTGGATAAAAT	0.368																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2230-2232)gcC>gcT		leucine-rich repeats and IQ motif containing 1							182.0	204.0	197.0					12																	85450803		2202	4299	6501	SO:0001819	synonymous_variant	84125							g.chr12:85450803C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2232C>T	12.37:g.85450803C>T							p.A744A	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2293	+			744					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.2232C>T	CCDS41816.1																																																																																				0.368	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		101	225	0	0	0	1	0	101	225				
TCEB3B	51224	broad.mit.edu	37	18	44560758	44560758	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr18:44560758C>T	ENST00000332567.4	-	1	1230	c.878G>A	c.(877-879)cGt>cAt	p.R293H	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	293					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCAGGGACACGCTGGCCGCT	0.627																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(877-879)cGt>cAt		transcription elongation factor B polypeptide 3B (elongin A2)							102.0	110.0	108.0					18																	44560758		2203	4299	6502	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560758C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.878G>A	18.37:g.44560758C>T	ENSP00000331302:p.Arg293His					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	p.R293H	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	1230	-			293					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.878G>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	0.046	-1.266193	0.01433	.	.	ENSG00000206181	ENST00000332567	T	0.07444	3.19	1.87	-3.74	0.04385	.	654.349000	0.01896	U	0.038901	T	0.04497	0.0123	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.31110	-0.9955	10	0.39692	T	0.17	.	0.4161	0.00449	0.3204:0.1873:0.3093:0.1829	.	293	Q8IYF1	ELOA2_HUMAN	H	293	ENSP00000331302:R293H	ENSP00000331302:R293H	R	-	2	0	TCEB3B	42814756	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.496000	0.06436	-1.521000	0.01771	-2.468000	0.00203	CGT		0.627	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		51	92	0	0	0	1	0	51	92				
APEH	327	broad.mit.edu	37	3	49723596	49723596	+	IGR	SNP	G	G	A	rs200900272		TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr3:49723596G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.P349L|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.P335L(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667																																						ENST00000449682.2																			5	Substitution - Missense(5)	p.P335L(5)	endometrium(3)|skin(2)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1045-1047)cCc>cTc		macrophage stimulating 1 (hepatocyte growth factor-like)							12.0	16.0	15.0					3																	49723596		2189	4280	6469	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723596G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723596G>A						MST1_ENST00000383728.3_3'UTR	p.P349L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1407	-			335			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1046C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499226	0.96355	.	.	ENSG00000173531	ENST00000449682	D	0.83250	-1.7	5.47	5.47	0.80525	.	0.000000	0.42053	D	0.000771	D	0.90256	0.6953	M	0.88450	2.955	0.80722	D	1	P	0.35793	0.521	P	0.46419	0.516	D	0.90879	0.4752	10	0.62326	D	0.03	.	18.9304	0.92563	0.0:0.0:1.0:0.0	.	349	G3XAK1	.	L	349	ENSP00000414287:P349L	ENSP00000414287:P349L	P	-	2	0	MST1	49698600	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.855000	0.99526	2.561000	0.86390	0.655000	0.94253	CCC		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	42	0	0	0	1	0	3	42				
NIPBL	25836	broad.mit.edu	37	5	37038775	37038775	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr5:37038775A>G	ENST00000282516.8	+	34	6542	c.6043A>G	c.(6043-6045)Ata>Gta	p.I2015V	NIPBL_ENST00000448238.2_Missense_Mutation_p.I2015V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2015					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTCAGCAAAATAAGACCCCA	0.363																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(6043-6045)Ata>Gta		Nipped-B homolog (Drosophila)							121.0	110.0	114.0					5																	37038775		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37038775A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6043A>G	5.37:g.37038775A>G	ENSP00000282516:p.Ile2015Val					NIPBL_ENST00000448238.2_Missense_Mutation_p.I2015V	p.I2015V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		34	6542	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2015					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6043A>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.372779	0.61624	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65916	-0.18;-0.18	4.95	4.95	0.65309	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	L	0.33710	1.025	0.58432	D	0.999997	B;P	0.38745	0.244;0.645	B;P	0.48524	0.287;0.58	T	0.55036	-0.8203	10	0.18276	T	0.48	-13.418	14.9013	0.70681	1.0:0.0:0.0:0.0	.	2015;2015	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	V	2015	ENSP00000282516:I2015V;ENSP00000406266:I2015V	ENSP00000282516:I2015V	I	+	1	0	NIPBL	37074532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.901000	0.92560	1.970000	0.57323	0.528000	0.53228	ATA		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		11	25	0	0	0	1	0	11	25				
TRIM67	440730	broad.mit.edu	37	1	231333193	231333193	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr1:231333193A>G	ENST00000366653.5	+	2	1121	c.1121A>G	c.(1120-1122)aAc>aGc	p.N374S	TRIM67_ENST00000366652.2_Missense_Mutation_p.N374S|TRIM67_ENST00000444294.3_Missense_Mutation_p.N374S|TRIM67_ENST00000449018.3_Missense_Mutation_p.N312S			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	374					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CAGCTAAAGAACATATTGCAG	0.433																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1120-1122)aAc>aGc		tripartite motif containing 67							119.0	112.0	114.0					1																	231333193		1937	4155	6092	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231333193A>G	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1121A>G	1.37:g.231333193A>G	ENSP00000355613:p.Asn374Ser					TRIM67_ENST00000366652.2_Missense_Mutation_p.N374S|TRIM67_ENST00000449018.3_Missense_Mutation_p.N312S|TRIM67_ENST00000366653.5_Missense_Mutation_p.N374S	p.N374S	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			2	1979	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	374					Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.1121A>G	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729545	0.48833	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.69306	-0.38;-0.29;-0.32;-0.39	5.64	5.64	0.86602	B-box, C-terminal (1);	0.114714	0.56097	D	0.000029	T	0.59985	0.2234	L	0.51422	1.61	0.49915	D	0.999835	B	0.15141	0.012	B	0.17098	0.017	T	0.56444	-0.7978	10	0.10636	T	0.68	.	15.8637	0.79047	1.0:0.0:0.0:0.0	.	374	Q6ZTA4	TRI67_HUMAN	S	374;374;312;374	ENSP00000412124:N374S;ENSP00000355612:N374S;ENSP00000400163:N312S;ENSP00000355613:N374S	ENSP00000355612:N374S	N	+	2	0	TRIM67	229399816	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.106000	0.77039	2.136000	0.66102	0.533000	0.62120	AAC		0.433	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		3	67	0	0	0	1	0	3	67				
ZNF319	57567	broad.mit.edu	37	16	58036476	58036476	+	5'Flank	SNP	C	C	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr16:58036476C>T	ENST00000299237.2	-	0	0				USB1_ENST00000563149.1_Silent_p.S64S|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000423271.3_Silent_p.S64S|USB1_ENST00000561743.1_Silent_p.S13S|USB1_ENST00000219281.3_Silent_p.S64S|USB1_ENST00000539737.2_Silent_p.S64S	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						AAGATGACAGCACAAAACACG	0.592																																						ENST00000219281.3																			0											c.(190-192)agC>agT		U6 snRNA biogenesis 1							86.0	81.0	83.0					16																	58036476		2198	4300	6498	SO:0001631	upstream_gene_variant	79650							g.chr16:58036476C>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9			16.37:g.58036476C>T	Exception_encountered					USB1_ENST00000423271.3_Silent_p.S64S|USB1_ENST00000539737.2_Silent_p.S64S|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000561743.1_Silent_p.S13S|USB1_ENST00000563149.1_Silent_p.S64S	p.S64S	NM_024598.3	NP_078874.2					2	303	+								Q52LH8	Silent	SNP	ENST00000299237.2	37	c.192C>T	CCDS32462.1																																																																																				0.592	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			40	36	0	0	0	1	0	40	36				
MUC16	94025	broad.mit.edu	37	19	9091118	9091118	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:9091118G>T	ENST00000397910.4	-	1	900	c.697C>A	c.(697-699)Ctt>Att	p.L233I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	233	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAATAAAGTGTCCCAAAT	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(697-699)Ctt>Att		mucin 16, cell surface associated							126.0	122.0	123.0					19																	9091118		1970	4162	6132	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091118G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.697C>A	19.37:g.9091118G>T	ENSP00000381008:p.Leu233Ile						p.L233I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	900	-			233			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.697C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-2.964453	0.00049	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	1.49	-2.99	0.05497	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.14012	0.009	B	0.10450	0.005	T	0.45011	-0.9290	8	0.87932	D	0	.	2.8493	0.05552	0.1636:0.2058:0.4904:0.1403	.	233	B5ME49	.	I	233	ENSP00000381008:L233I	ENSP00000381008:L233I	L	-	1	0	MUC16	8952118	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-4.544000	0.00218	-2.826000	0.00341	-0.689000	0.03729	CTT		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	68	1	0	3.59834e-05	1	3.73673e-05	5	68				
TRBV6-7	28600	broad.mit.edu	37	7	142143907	142143907	+	RNA	SNP	T	T	C			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr7:142143907T>C	ENST00000390373.2	-	0	88									T cell receptor beta variable 6-7 (non-functional)																		CTTCAGGACGTGGAATTTTGG	0.527																																						ENST00000390373.2																			0																																																			0							g.chr7:142143907T>C	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253188	ENSG00000253188		"""T cell receptors / TRB locus"""	12232	other	T cell receptor gene			"""T cell receptor beta variable 6-7"""			8650574	Standard	NG_001333		Approved	TRBV67, TCRBV13S8P, TCRBV6S7			OTTHUMG00000158511		7.37:g.142143907T>C														0	88	-									RNA	SNP	ENST00000390373.2	37																																																																																						0.527	TRBV6-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351217.2	NG_001333		7	87	0	0	0	1	0	7	87				
PI4KB	5298	broad.mit.edu	37	1	151288289	151288289	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr1:151288289C>T	ENST00000368873.1	-	2	837	c.669G>A	c.(667-669)atG>atA	p.M223I	PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000271657.5_Missense_Mutation_p.M235I|PI4KB_ENST00000368872.1_Missense_Mutation_p.M223I|PI4KB_ENST00000368874.4_Missense_Mutation_p.M223I|PI4KB_ENST00000368875.2_Missense_Mutation_p.M235I			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	223	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGAAATGTGCATGTCTGAAG	0.542																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(703-705)atG>atA		phosphatidylinositol 4-kinase, catalytic, beta							104.0	87.0	93.0					1																	151288289		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151288289C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.669G>A	1.37:g.151288289C>T	ENSP00000357867:p.Met223Ile					PI4KB_ENST00000271657.5_Missense_Mutation_p.M235I|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368873.1_Missense_Mutation_p.M223I|PI4KB_ENST00000368874.4_Missense_Mutation_p.M223I|PI4KB_ENST00000368872.1_Missense_Mutation_p.M223I	p.M235I	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	1285	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		223					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.705G>A		.	.	.	.	.	.	.	.	.	.	C	14.01	2.406703	0.42715	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.38531	1.155	0.80722	D	1	P;B;B	0.40476	0.718;0.067;0.111	B;B;B	0.41271	0.352;0.011;0.025	T	0.08785	-1.0705	10	0.20519	T	0.43	-21.9424	16.679	0.85287	0.0:1.0:0.0:0.0	.	223;223;223	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	I	223;235;235;223;223;223	ENSP00000357868:M223I;ENSP00000357869:M235I;ENSP00000271657:M235I;ENSP00000357867:M223I;ENSP00000357866:M223I;ENSP00000394719:M223I	ENSP00000271657:M235I	M	-	3	0	PI4KB	149554913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.567000	0.82357	2.504000	0.84457	0.561000	0.74099	ATG		0.542	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		23	34	0	0	0	1	0	23	34				
SSTR5	6755	broad.mit.edu	37	16	1129911	1129911	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr16:1129911C>T	ENST00000293897.4	+	1	1131	c.1043C>T	c.(1042-1044)cCa>cTa	p.P348L	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.P348L|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	348				PPAHR -> RPRT (in Ref. 1; AAA20828). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GAGGCCACGCCACCCGCGCAC	0.701																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(1042-1044)cCa>cTa		somatostatin receptor 5	Octreotide(DB00104)						18.0	18.0	18.0					16																	1129911		2166	4277	6443	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129911C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.1043C>T	16.37:g.1129911C>T	ENSP00000293897:p.Pro348Leu					SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.P348L	p.P348L	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	1131	+		Hepatocellular(780;0.00369)	348	PPAHR -> RPRT (in Ref. 1; AAA20828).				P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.1043C>T	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	C	3.800	-0.041889	0.07452	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.71103	-0.54;-0.54	4.76	-0.213	0.13165	.	0.628011	0.14943	N	0.289394	T	0.53206	0.1782	L	0.39397	1.21	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31251	-0.9950	10	0.24483	T	0.36	.	4.5675	0.12193	0.1369:0.2089:0.0:0.6543	.	348	P35346	SSR5_HUMAN	L	348	ENSP00000380680:P348L;ENSP00000293897:P348L	ENSP00000293897:P348L	P	+	2	0	SSTR5	1069912	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.253000	0.18296	-0.356000	0.08187	-0.258000	0.10820	CCA		0.701	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			3	12	0	0	0	1	0	3	12				
DCAF12L2	340578	broad.mit.edu	37	X	125299264	125299264	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chrX:125299264C>T	ENST00000360028.2	-	1	670	c.644G>A	c.(643-645)gGc>gAc	p.G215D	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.G215D			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	215										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGCCACGGTGCCGTCGCGGGA	0.642																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(643-645)gGc>gAc		DDB1 and CUL4 associated factor 12-like 2							38.0	41.0	40.0					X																	125299264		2203	4299	6502	SO:0001583	missense	340578							g.chrX:125299264C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.644G>A	X.37:g.125299264C>T	ENSP00000353128:p.Gly215Asp					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G215D	p.G215D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	724	-			215					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.644G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543622	0.45280	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.65732	-0.17;-0.17	4.53	4.53	0.55603	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.34046	N	0.004318	T	0.76521	0.3999	M	0.76574	2.34	0.45914	D	0.998759	D	0.89917	1.0	D	0.97110	1.0	T	0.76887	-0.2793	10	0.42905	T	0.14	.	12.1893	0.54261	0.0:1.0:0.0:0.0	.	215	Q5VW00	DC122_HUMAN	D	215	ENSP00000441489:G215D;ENSP00000353128:G215D	ENSP00000353128:G215D	G	-	2	0	DCAF12L2	125126945	1.000000	0.71417	0.066000	0.19879	0.002000	0.02628	6.859000	0.75467	2.167000	0.68274	0.544000	0.68410	GGC		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		10	22	0	0	0	1	0	10	22				
AKR1D1	6718	broad.mit.edu	37	7	137790074	137790074	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr7:137790074G>C	ENST00000242375.3	+	5	520	c.478G>C	c.(478-480)Gct>Cct	p.A160P	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Missense_Mutation_p.A160P|AKR1D1_ENST00000411726.2_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	160					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	TTGCAAAGACGCTGGCTTGGT	0.478																																						ENST00000242375.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(478-480)Gct>Cct		aldo-keto reductase family 1, member D1							123.0	131.0	128.0					7																	137790074		2203	4300	6503	SO:0001583	missense	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137790074G>C	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.478G>C	7.37:g.137790074G>C	ENSP00000242375:p.Ala160Pro					AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Missense_Mutation_p.A160P|AKR1D1_ENST00000411726.2_Intron	p.A160P	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN			5	520	+			160					A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	ENST00000242375.3	37	c.478G>C	CCDS5846.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298214	0.81025	.	.	ENSG00000122787	ENST00000297463;ENST00000432161;ENST00000242375	T;T	0.26373	1.74;1.74	4.71	3.82	0.43975	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.108239	0.64402	D	0.000008	T	0.52773	0.1755	M	0.88775	2.98	0.51767	D	0.999932	D;D	0.76494	0.996;0.999	D;D	0.71870	0.932;0.975	T	0.59316	-0.7477	10	0.72032	D	0.01	.	10.6276	0.45516	0.0959:0.0:0.9041:0.0	.	160;160	B4DPN3;P51857	.;AK1D1_HUMAN	P	38;160;160	ENSP00000389197:A160P;ENSP00000242375:A160P	ENSP00000242375:A160P	A	+	1	0	AKR1D1	137440614	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.076000	0.76806	2.613000	0.88420	0.591000	0.81541	GCT		0.478	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		61	113	0	0	0	1	0	61	113				
RBPJL	11317	broad.mit.edu	37	20	43943137	43943137	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr20:43943137C>A	ENST00000343694.3	+	9	1024	c.952C>A	c.(952-954)Cca>Aca	p.P318T	RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372741.3_Missense_Mutation_p.P318T|RBPJL_ENST00000372743.1_Missense_Mutation_p.P318T	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	318					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				ATTCCAGTTTCCAGGCAGTCC	0.522																																						ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(952-954)Cca>Aca		recombination signal binding protein for immunoglobulin kappa J region-like							122.0	107.0	112.0					20																	43943137		2203	4300	6503	SO:0001583	missense	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43943137C>A	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.952C>A	20.37:g.43943137C>A	ENSP00000341243:p.Pro318Thr					RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Missense_Mutation_p.P318T|RBPJL_ENST00000372741.3_Missense_Mutation_p.P318T	p.P318T	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			9	1024	+		Myeloproliferative disorder(115;0.0122)	318					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	c.952C>A	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596104	0.46318	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.28454	1.61;1.61;1.61	4.9	4.9	0.64082	Beta-trefoil (2);	0.169716	0.40222	N	0.001159	T	0.15955	0.0384	N	0.03608	-0.345	0.41338	D	0.987283	P;B	0.43578	0.811;0.425	B;B	0.41135	0.348;0.233	T	0.12915	-1.0529	10	0.22109	T	0.4	-12.7311	15.3943	0.74778	0.0:1.0:0.0:0.0	.	318;318	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	T	318	ENSP00000361828:P318T;ENSP00000361826:P318T;ENSP00000341243:P318T	ENSP00000341243:P318T	P	+	1	0	RBPJL	43376551	0.668000	0.27493	0.496000	0.27539	0.666000	0.39218	2.595000	0.46197	2.543000	0.85770	0.467000	0.42956	CCA		0.522	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		4	123	1	0	0.00909568	1	0.00909568	4	123				
MUC16	94025	broad.mit.edu	37	19	9057963	9057963	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:9057963G>A	ENST00000397910.4	-	3	29686	c.29483C>T	c.(29482-29484)tCc>tTc	p.S9828F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9830	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGGACAGAGGAATGAGATTC	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(29482-29484)tCc>tTc		mucin 16, cell surface associated							133.0	133.0	133.0					19																	9057963		2049	4194	6243	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057963G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29483C>T	19.37:g.9057963G>A	ENSP00000381008:p.Ser9828Phe						p.S9828F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	29686	-			9830			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29483C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.964	-0.009643	0.07727	.	.	ENSG00000181143	ENST00000397910	T	0.38887	1.11	2.43	-1.15	0.09709	.	.	.	.	.	T	0.21921	0.0528	L	0.27053	0.805	.	.	.	P	0.36712	0.566	B	0.32928	0.155	T	0.20472	-1.0274	8	0.87932	D	0	.	0.9313	0.01335	0.1578:0.2425:0.3766:0.2231	.	9828	B5ME49	.	F	9828	ENSP00000381008:S9828F	ENSP00000381008:S9828F	S	-	2	0	MUC16	8918963	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.796000	0.26986	-0.162000	0.10964	-0.259000	0.10710	TCC		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		38	66	0	0	0	1	0	38	66				
CROCCP2	84809	broad.mit.edu	37	1	16959803	16959803	+	lincRNA	SNP	G	G	A			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr1:16959803G>A	ENST00000412962.1	-	0	54							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)		p.A21A(1)									TTCCCAGGCCGGCCTCCTGGA	0.642																																						ENST00000412962.1																			1	Substitution - coding silent(1)	p.A21A(1)	kidney(1)																																																0							g.chr1:16959803G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959803G>A														0	54	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.642	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	19	0	0	0	1	0	5	19				
MROH5	389690	broad.mit.edu	37	8	142505558	142505558	+	RNA	SNP	G	G	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr8:142505558G>T	ENST00000430863.1	-	0	368					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CACTGTTCATGTCCTGCAGCA	0.537																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							120.0	119.0	120.0					8																	142505558		2158	4263	6421			389690							g.chr8:142505558G>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142505558G>T								NM_207414.2	NP_997297.2					0	368	-									RNA	SNP	ENST00000430863.1	37			.	.	.	.	.	.	.	.	.	.	G	3.171	-0.170023	0.06461	.	.	ENSG00000226807	ENST00000521161	.	.	.	4.56	1.41	0.22369	.	.	.	.	.	T	0.21186	0.0510	N	0.24115	0.695	.	.	.	P	0.46142	0.873	B	0.43508	0.422	T	0.14337	-1.0476	7	0.22109	T	0.4	.	3.2238	0.06725	0.104:0.1717:0.5486:0.1757	.	96	Q6ZUA9	.	E	61	.	ENSP00000431031:D96E	D	-	3	2	AC100803.1	142574740	0.184000	0.23200	0.931000	0.37212	0.042000	0.13812	0.118000	0.15605	0.408000	0.25621	0.462000	0.41574	GAC		0.537	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		21	43	1	0	4.54149e-19	1	5.10917e-19	21	43				
ATG2A	23130	broad.mit.edu	37	11	64669827	64669827	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr11:64669827C>T	ENST00000377264.3	-	28	3921	c.3809G>A	c.(3808-3810)tGc>tAc	p.C1270Y	ATG2A_ENST00000421419.2_Missense_Mutation_p.C1272Y	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1270					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CACTGGGGGGCACGAGGGCAG	0.687																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(3814-3816)tGc>tAc		autophagy related 2A							19.0	20.0	19.0					11																	64669827		2189	4293	6482	SO:0001583	missense	23130						protein binding	g.chr11:64669827C>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.3809G>A	11.37:g.64669827C>T	ENSP00000366475:p.Cys1270Tyr					ATG2A_ENST00000377264.3_Missense_Mutation_p.C1270Y	p.C1272Y			Q2TAZ0	ATG2A_HUMAN			28	3929	-			1270					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.3815G>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	1.327	-0.597831	0.03771	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.06849	3.25;3.25	3.62	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	L	0.51422	1.61	0.58432	D	0.99999	D;D	0.89917	0.998;1.0	D;D	0.87578	0.986;0.998	T	0.02813	-1.1107	10	0.20519	T	0.43	.	10.9939	0.47565	0.0:1.0:0.0:0.0	.	1270;1272	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	Y	1272;1270	ENSP00000410522:C1272Y;ENSP00000366475:C1270Y	ENSP00000366475:C1270Y	C	-	2	0	ATG2A	64426403	1.000000	0.71417	0.372000	0.25991	0.053000	0.15095	4.648000	0.61425	2.039000	0.60335	0.462000	0.41574	TGC		0.687	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		9	10	0	0	0	1	0	9	10				
WRNIP1	56897	broad.mit.edu	37	6	2770371	2770371	+	Silent	SNP	C	C	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr6:2770371C>T	ENST00000380773.4	+	3	1241	c.1032C>T	c.(1030-1032)caC>caT	p.H344H	WRNIP1_ENST00000380769.4_Silent_p.H124H|WRNIP1_ENST00000380764.1_5'UTR|WRNIP1_ENST00000380771.4_Intron	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TCCTTCCTCACGTGGAATGTG	0.488																																						ENST00000380769.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(370-372)caC>caT		Werner helicase interacting protein 1							135.0	114.0	121.0					6																	2770371		2203	4300	6503	SO:0001819	synonymous_variant	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2770371C>T	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1032C>T	6.37:g.2770371C>T						WRNIP1_ENST00000380771.4_Intron|WRNIP1_ENST00000380773.4_Silent_p.H344H|WRNIP1_ENST00000380764.1_5'UTR	p.H124H			Q96S55	WRIP1_HUMAN			3	603	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	344						Silent	SNP	ENST00000380773.4	37	c.372C>T	CCDS4475.1																																																																																				0.488	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		24	51	0	0	0	1	0	24	51				
APEH	327	broad.mit.edu	37	3	49723603	49723603	+	IGR	SNP	G	G	A	rs199969873	byFrequency	TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr3:49723603G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.R347W|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R333W(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662													G|||	4	0.000798722	0.0008	0.0	5008	,	,		14102	0.001		0.001	False		,,,				2504	0.001					ENST00000449682.2																			5	Substitution - Missense(5)	p.R333W(5)	endometrium(4)|skin(1)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1039-1041)Cgg>Tgg		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723603G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723603G>A						MST1_ENST00000383728.3_3'UTR	p.R347W	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1400	-			333			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1039C>T	CCDS2801.1	11	0.005036630036630037	4	0.008130081300813009	3	0.008287292817679558	0	0.0	4	0.005277044854881266	G	28.4	4.921307	0.92249	.	.	ENSG00000173531	ENST00000449682	D	0.93953	-3.32	5.47	2.53	0.30540	.	0.000000	0.38005	N	0.001857	D	0.96321	0.8800	H	0.97186	3.955	0.80722	D	1	D	0.56521	0.976	P	0.60609	0.877	D	0.95291	0.8395	10	0.66056	D	0.02	.	13.6859	0.62515	0.0:0.0:0.4634:0.5366	.	347	G3XAK1	.	W	347	ENSP00000414287:R347W	ENSP00000414287:R347W	R	-	1	2	MST1	49698607	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.194000	0.51005	0.213000	0.20722	0.655000	0.94253	CGG		0.662	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	42	0	0	0	1	0	3	42				
XPNPEP2	7512	broad.mit.edu	37	X	128901598	128901598	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chrX:128901598C>G	ENST00000371106.3	+	20	1952	c.1760C>G	c.(1759-1761)aCc>aGc	p.T587S		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	587						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGCTACCTGACCTTTGAAGTG	0.567																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(1759-1761)aCc>aGc		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							225.0	152.0	177.0					X																	128901598		2203	4300	6503	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128901598C>G	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1760C>G	X.37:g.128901598C>G	ENSP00000360147:p.Thr587Ser						p.T587S	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			20	1952	+			587					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.1760C>G	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857522	0.71834	.	.	ENSG00000122121	ENST00000371106	T	0.73789	-0.78	5.13	5.13	0.70059	Peptidase M24, structural domain (2);	0.149260	0.64402	D	0.000010	T	0.70710	0.3255	L	0.45470	1.425	0.33246	D	0.5579	P	0.47253	0.892	P	0.44732	0.459	T	0.80372	-0.1410	10	0.52906	T	0.07	-9.3877	12.654	0.56778	0.0:1.0:0.0:0.0	.	587	O43895	XPP2_HUMAN	S	587	ENSP00000360147:T587S	ENSP00000360147:T587S	T	+	2	0	XPNPEP2	128729279	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.173000	0.65010	2.383000	0.81215	0.529000	0.55759	ACC		0.567	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		54	17	0	0	0	1	0	54	17				
KCNA3	3738	broad.mit.edu	37	1	111217282	111217282	+	Silent	SNP	C	C	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr1:111217282C>T	ENST00000369769.2	-	1	373	c.150G>A	c.(148-150)ccG>ccA	p.P50P		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	50					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TCATGTCGGGCGGCAGCTCGC	0.776																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(148-150)ccG>ccA		potassium voltage-gated channel, shaker-related subfamily, member 3							5.0	6.0	6.0					1																	111217282		1313	2926	4239	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217282C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.150G>A	1.37:g.111217282C>T							p.P50P	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	373	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	50					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.150G>A	CCDS828.2																																																																																				0.776	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		5	17	0	0	0	1	0	5	17				
CPEB3	22849	broad.mit.edu	37	10	93999747	93999747	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr10:93999747C>G	ENST00000265997.4	-	2	533	c.361G>C	c.(361-363)Gac>Cac	p.D121H	CPEB3_ENST00000412050.4_Missense_Mutation_p.D121H	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	121	Pro-rich.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AAGAAGCTGTCCTCTACCGCG	0.667																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(361-363)Gac>Cac		cytoplasmic polyadenylation element binding protein 3							52.0	46.0	48.0					10																	93999747		2203	4300	6503	SO:0001583	missense	22849						nucleotide binding|RNA binding	g.chr10:93999747C>G	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.361G>C	10.37:g.93999747C>G	ENSP00000265997:p.Asp121His					CPEB3_ENST00000265997.4_Missense_Mutation_p.D121H	p.D121H	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			2	449	-		Colorectal(252;0.0869)	121			Pro-rich.		Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	c.361G>C	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549181	0.65311	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.55760	0.5;0.5	3.85	3.85	0.44370	.	0.052876	0.64402	D	0.000001	T	0.49966	0.1588	N	0.19112	0.55	0.58432	D	0.999999	D;D;D	0.58268	0.969;0.969;0.982	P;P;P	0.52881	0.519;0.519;0.712	T	0.58440	-0.7636	10	0.62326	D	0.03	-10.3772	15.9832	0.80127	0.0:1.0:0.0:0.0	.	121;121;121	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	H	121	ENSP00000398310:D121H;ENSP00000265997:D121H	ENSP00000265997:D121H	D	-	1	0	CPEB3	93989727	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.468000	0.80943	1.991000	0.58162	0.491000	0.48974	GAC		0.667	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		5	7	0	0	0	1	0	5	7				
PARP4	143	broad.mit.edu	37	13	25044068	25044068	+	Silent	SNP	G	G	A			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr13:25044068G>A	ENST00000381989.3	-	16	2115	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	670	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGAAGGCTTCGAAGCCACACA	0.458																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2008-2010)ttC>ttT		poly (ADP-ribose) polymerase family, member 4							90.0	69.0	76.0					13																	25044068		2203	4300	6503	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25044068G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2010C>T	13.37:g.25044068G>A							p.F670F	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	16	2115	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	670			VIT.		O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.2010C>T	CCDS9307.1																																																																																				0.458	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		3	19	0	0	0	1	0	3	19				
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C	rs370500896	byFrequency	TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542													G|||	18	0.00359425	0.0	0.0	5008	,	,		22692	0.0		0.001	False		,,,				2504	0.0174					ENST00000418868.1																			0																																																			0							g.chr3:197348634G>C																													3.37:g.197348634G>C								NR_003266.2						0	625	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.542	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	87	0	0	0	1	0	5	87				
SPDYE3	441272	broad.mit.edu	37	7	99909507	99909507	+	Silent	SNP	C	C	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr7:99909507C>T	ENST00000332397.6	+	4	863	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	227										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGCAGAGACGCTGTGTGGCCT	0.587																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(679-681)Ctg>Ttg		speedy/RINGO cell cycle regulator family member E3							29.0	30.0	30.0					7																	99909507		1351	3396	4747	SO:0001819	synonymous_variant	441272							g.chr7:99909507C>T	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.679C>T	7.37:g.99909507C>T						SPDYE3_ENST00000437326.2_5'UTR	p.L227L	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			4	863	+			227					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.679C>T	CCDS47658.2																																																																																				0.587	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		40	80	0	0	0	1	0	40	80				
OR9Q1	219956	broad.mit.edu	37	11	57947006	57947006	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr11:57947006G>T	ENST00000335397.3	+	3	406	c.90G>T	c.(88-90)ttG>ttT	p.L30F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTCCTCTTGTTTTTATTTA	0.448																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(88-90)ttG>ttT		olfactory receptor, family 9, subfamily Q, member 1							211.0	199.0	203.0					11																	57947006		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947006G>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.90G>T	11.37:g.57947006G>T	ENSP00000334934:p.Leu30Phe						p.L30F	NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN			3	406	+		Breast(21;0.222)	30					Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.90G>T	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	G	6.571	0.473595	0.12521	.	.	ENSG00000186509	ENST00000335397	T	0.17213	2.29	4.75	-2.31	0.06765	.	0.194163	0.25408	N	0.030889	T	0.10337	0.0253	L	0.28014	0.82	0.21915	N	0.999479	B	0.16396	0.017	B	0.14023	0.01	T	0.18967	-1.0320	10	0.62326	D	0.03	-8.4777	9.694	0.40145	0.2146:0.5751:0.2103:0.0	.	30	Q8NGQ5	OR9Q1_HUMAN	F	30	ENSP00000334934:L30F	ENSP00000334934:L30F	L	+	3	2	OR9Q1	57703582	0.000000	0.05858	0.169000	0.22859	0.375000	0.29983	-3.872000	0.00345	-0.515000	0.06479	-0.300000	0.09419	TTG		0.448	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		4	144	1	0	0.000602214	1	0.000613577	4	144				
PTEN	5728	broad.mit.edu	37	10	89717715	89717716	+	Frame_Shift_Ins	INS	-	-	A	rs587782341		TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr10:89717715_89717716insA	ENST00000371953.3	+	7	2097_2098	c.740_741insA	c.(739-744)ttacctfs	p.P248fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	248	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.P248fs*5(13)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.L247fs*4(1)|p.L247F(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTCAGCCGTTACCTGTGTGTG	0.406		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		67	Whole gene deletion(37)|Insertion - Frameshift(14)|Deletion - Frameshift(11)|Substitution - Nonsense(2)|Deletion - In frame(1)|Unknown(1)|Substitution - Missense(1)	p.0?(37)|p.P248fs*5(13)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.L247fs*4(1)|p.L247F(1)	central_nervous_system(16)|prostate(16)|skin(7)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|lung(5)|ovary(5)|breast(4)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CI043805	PTEN	I		c.(739-741)tccfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717715_89717716insA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.741dupA	10.37:g.89717716_89717716dupA	ENSP00000361021:p.Pro248fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.S247fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2097_2098	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	247			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.740_741insA	CCDS31238.1																																																																																				0.406	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		16	14						16	14	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283605	43283606	+	RNA	INS	-	-	A	rs377012965|rs201499316		TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr11:43283605_43283606insA	ENST00000511537.1	-	0	1329_1330					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		GAAGCAAATGTAAAAAAAAAAA	0.386																																						ENST00000511537.1																			0																																																			0							g.chr11:43283605_43283606insA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283616_43283616dupA								NR_033868.1						0	1329_1330	-									RNA	INS	ENST00000511537.1	37																																																																																						0.386	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		2	4						2	4	---	---	---	---
ZNF268	10795	broad.mit.edu	37	12	133780636	133780636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr12:133780636delT	ENST00000536435.2	+	6	2694	c.2364delT	c.(2362-2364)gctfs	p.A788fs	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.A627fs|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.A788fs	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	788					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTGGGAAAGCTTTTAGCAGCA	0.408																																						ENST00000536435.2																			0				NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24						c.(2362-2364)gcfs		zinc finger protein 268							46.0	45.0	45.0					12																	133780636		692	1590	2282	SO:0001589	frameshift_variant	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133780636delT	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.2364delT	12.37:g.133780636delT	ENSP00000444412:p.Ala788fs					ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.A788fs|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.A627fs	p.A788fs	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	6	2694	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	788					Q8TDG8|Q96RH4|Q9BZJ9	Frame_Shift_Del	DEL	ENST00000536435.2	37	c.2364delT	CCDS45012.1																																																																																				0.408	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		2	4						2	4	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			2	4						2	4	---	---	---	---
HOXB4	3214	broad.mit.edu	37	17	46657168	46657169	+	De_novo_Start_OutOfFrame	DEL	AT	AT	-			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:46657168_46657169delAT	ENST00000332503.5	-	0	304_305				HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_5'Flank|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000498678.1_Intron|MIR10A_ENST00000385043.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4						anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						CTACATATACATATATATATAT	0.361																																						ENST00000332503.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9								homeobox B4				22,29,3341		1,0,20,2,25,1648						-0.9	0.0			5	20,59,6885		1,0,18,11,37,3415	no	near-gene-5				2,0,38,13,62,5063	A1A1,A1A2,A1R,A2A2,A2R,RR		1.1344,1.5035,1.2553				42,88,10226						3214					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46657168_46657169delAT		CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.-1488AT>-	17.37:g.46657178_46657179delAT						HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron		NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN			0	304_305	-								Q9NTA0	Translation_Start_Site	DEL	ENST00000332503.5	37		CCDS11529.1																																																																																				0.361	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			2	4						2	4	---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80900326	80900327	+	Splice_Site	INS	-	-	T	rs368769893		TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:80900326_80900327insT	ENST00000355528.4	+	39	3696_3697	c.3566_3567insT	c.(3565-3570)cctggt>ccTtggt	p.G1190fs	TBCD_ENST00000576691.1_3'UTR|TBCD_ENST00000539345.2_Splice_Site_p.G1228fs	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	1190					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTTCTTCAGCCTGGTGCCTGCT	0.619																																						ENST00000355528.4																			0											c.e39-1		tubulin folding cofactor D																																				SO:0001630	splice_region_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80900326_80900327insT	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.3565-1->T	17.37:g.80900327_80900327dupT						TBCD_ENST00000576691.1_3'UTR|TBCD_ENST00000539345.2_Splice_Site_p.R1227_splice	p.R1189_splice	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		39	3696_3697	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	1189					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Splice_Site	INS	ENST00000355528.4	37	c.3564_splice	CCDS45818.1																																																																																				0.619	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993	Frame_Shift_Ins	31	46						31	46	---	---	---	---
