#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	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_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
MUC6	4588	broad.mit.edu	37	11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			GAG	-	GAG	GAG		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:1016412_1016414delGAG	ENST00000421673.2	-	31	6437_6439	c.6387_6389delCTC	c.(6385-6390)tcctca>tca	p.2129_2130SS>S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2129	Ser-rich.|Thr-rich.			S -> F (in Ref. 6; BAC04860). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.S2130delS(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGAGAAAATGAGGAGGACAGCT	0.522																																						ENST00000421673.2	0.880000	5.500000e-01	8.000000e-01	6.300000e-01	0.710000	0.719562	0.710000	0.720000																										1	Deletion - In frame(1)	p.S2130delS(1)	stomach(1)	80						c.(6385-6390)tcctca>tca		mucin 6, oligomeric mucus/gel-forming				1,3949		0,1,1974						2.9	0.0			96	0,8040		0,0,4020	no	coding	MUC6	NM_005961.2		0,1,5994	A1A1,A1R,RR		0.0,0.0253,0.0083				1,11989				SO:0001651	inframe_deletion	4588	0	0					g.chr11:1016412_1016414delGAG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6387_6389delCTC	chr11.hg19:g.1016415_1016417delGAG	ENSP00000406861:p.Ser2130del	0						p.2129_2130SS>S	NM_005961.2	NP_005952.2	0	0	0	2.071255	Q6W4X9	MUC6_HUMAN		31	6437_6439	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	In_Frame_Del	DEL	ENST00000421673.2	1	1	hg19	c.6387_6389delCTC	CCDS44513.1	0																																																																																								0.600000		TCGA-2L-AAQA-01A-21D-A38G-08	0.522	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	1	0	0		35	2		0	0	0	5	58	0	58	62	1	1.890000	-20.000000	1	0.600000	XM_290540		0	57	67	0	209	210	0	0	1	1		0	0	58	0	0	0.997701	1		16	0	404	0	57	209
RNF43	54894	broad.mit.edu	37	17	56492904	56492908	+	Frame_Shift_Del	DEL	AGGGC	AGGGC	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			AGGGC	-	AGGGC	AGGGC		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:56492904_56492908delAGGGC	ENST00000584437.1	-	1	1986_1990	c.31_35delGCCCT	c.(31-36)gccctcfs	p.AL11fs	RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.AL11fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000580014.1_5'Flank			Q68DV7	RNF43_HUMAN	ring finger protein 43	11					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGGGCCAGAGGGCAGCCAGCTGC	0.556																																						ENST00000584437.1	0.580000	3.300000e-01	5.200000e-01	3.800000e-01	0.450000	0.458472	0.450000	0.450000																										0				60						c.(31-36)gccctcfs		ring finger protein 43																																				SO:0001589	frameshift_variant	54894	0	0					g.chr17:56492904_56492908delAGGGC		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.31_35delGCCCT	chr17.hg19:g.56492904_56492908delAGGGC	ENSP00000463069:p.Ala11fs	1					RNF43_ENST00000583753.1_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000580014.1_5'Flank|RNF43_ENST00000577716.1_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.AL11fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000581868.1_Intron	p.AL11fs			0	1	1	1.475023	Q68DV7	RNF43_HUMAN		1	1986_1990	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	ENST00000584437.1	1	1	hg19	c.31_35delGCCCT	CCDS11607.1	0																																																																																								0.431010		TCGA-2L-AAQA-01A-21D-A38G-08	0.556	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	1	0	0		2	2	2	0	0	0	0	103	0	103	103	1	1.890000	-20.000000	1	0.600000	NM_017763		0	38	50	0	158	165	0	0	1	1	1	0	0	103	228	0	1.000000	7.845042e-01	1	4	115	10	316	38	158
PMEPA1	56937	broad.mit.edu	37	20	56227349	56227349	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:56227349delG	ENST00000341744.3	-	4	943	c.624delC	c.(622-624)cccfs	p.P208fs	PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.P173fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.P158fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	208					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGTTACTGCTGGGGGGGCAGG	0.682																																						ENST00000341744.3	0.670000	4.100000e-01	6.100000e-01	4.600000e-01	0.530000	0.541462	0.530000	0.530000																										0				16						c.(622-624)cccfs		prostate transmembrane protein, androgen induced 1							28.0	33.0	31.0					20																	56227349		2203	4298	6501	SO:0001589	frameshift_variant	56937	0	0					g.chr20:56227349delG	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.624delC	chr20.hg19:g.56227349delG	ENSP00000345826:p.Pro208fs	0					PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.P173fs|PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.P158fs	p.P208fs	NM_020182.4	NP_064567.2	0	0	0	2.045390	Q969W9	PMEPA_HUMAN		4	943	-			Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Frame_Shift_Del	DEL	ENST00000341744.3	1	0	hg19	c.624delC	CCDS13463.1	0																																																																																								0.597586		TCGA-2L-AAQA-01A-21D-A38G-08	0.682	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	1	0	1		40	2		0	0	0	6	80	0	80	80	1	1.890000	-1.563211	0	0.600000	NM_020182		0	55	77	0	285	278	0	0	1	1		0	0	80	0	0	0.976157	1		238	0	785	0	55	285
ARRDC1	92714	broad.mit.edu	37	9	140507340	140507354	+	Splice_Site	DEL	CTTTGCAGCCATCCG	CTTTGCAGCCATCCG	-	rs374081670|rs147183389	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			CTTTGCAGCCATCCG	-	CTTTGCAGCCATCCG	CTTTGCAGCCATCCG		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:140507340_140507354delCTTTGCAGCCATCCG	ENST00000371421.4	+	2	182_189	c.118_125delCTTTGCAGCCATCCG	c.(118-126)ctttgcagc>c	p.LCS40del	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	40						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CAGCCATCCCCTTTGCAGCCATCCGGGTGACCTGC	0.633																																						ENST00000371421.4	0.750000	4.000000e-01	6.600000e-01	4.700000e-01	0.560000	0.573886	0.560000	0.560000																										0				13						c.(118-126)ctttgcagc>c		arrestin domain containing 1																																				SO:0001630	splice_region_variant	92714	0	0					g.chr9:140507340_140507354delCTTTGCAGCCATCCG	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"""alpha-arrestin 1"""					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.119-1CTTTGCAGCCATCCG>-	chr9.hg19:g.140507340_140507354delCTTTGCAGCCATCCG		0					C9orf37_ENST00000496793.1_5'Flank|ARRDC1_ENST00000491911.1_3'UTR	p.LCS40del	NM_152285.2	NP_689498.1	0	0	0	2.067674	Q8N5I2	ARRD1_HUMAN		2	182_189	+	all_cancers(76;0.106)			Splice_Site	DEL	ENST00000371421.4	1	1	hg19	c.118_125delCTTTGCAGCCATCCG	CCDS7049.1	0																																																																																								0.600000		TCGA-2L-AAQA-01A-21D-A38G-08	0.633	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	0	0	1		2	2		0	0	0	0	48	0	48	48	1	1.890000	-20.000000	1	0.600000	NM_152285	In_Frame_Del	0	32	39	0	157	162	0	0	1	0		0	0	48	0	0	1.000000	1		0	0	437	0	32	157
CRTAC1	55118	broad.mit.edu	37	10	99696061	99696061	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:99696061G>A	ENST00000370597.3	-	3	642	c.287C>T	c.(286-288)gCg>gTg	p.A96V	CRTAC1_ENST00000298819.4_Missense_Mutation_p.A96V|CRTAC1_ENST00000370591.2_Missense_Mutation_p.A96V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	96						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTCATCGACCGCGATGTTCAC	0.662																																						ENST00000370597.3	1.000000	6.300000e-01	9.000000e-01	7.100000e-01	0.800000	0.809308	0.800000	0.800000																										0				35						c.(286-288)gCg>gTg		cartilage acidic protein 1							59.0	50.0	53.0					10																	99696061		2203	4300	6503	SO:0001583	missense	55118	1	121408	31				g.chr10:99696061G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.287C>T	chr10.hg19:g.99696061G>A	ENSP00000359629:p.Ala96Val	0					CRTAC1_ENST00000370591.2_Missense_Mutation_p.A96V|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A96V	p.A96V	NM_018058.6	NP_060528.3	1	2	3	2.117229	Q9NQ79	CRAC1_HUMAN		3	642	-		Colorectal(252;0.24)	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	1	1	hg19	c.287C>T	CCDS31266.1	0	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184476	0.78677	.	.	ENSG00000095713	ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.76	4.76	0.60689	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.91635	0.704;0.999	T	0.43523	-0.9386	10	0.27785	T	0.31	-10.778	17.7665	0.88480	0.0:0.0:1.0:0.0	.	96;96	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	V	96;96;88;96	ENSP00000359629:A96V;ENSP00000298819:A96V;ENSP00000310810:A88V;ENSP00000359623:A96V	ENSP00000298819:A96V	A	-	2	0	0	CRTAC1	99686051	99686051	1.000000	0.71417	0.892000	0.35008	0.640000	0.38277	9.725000	0.98778	2.204000	0.70986	0.313000	0.20887	GCG	0.604743		TCGA-2L-AAQA-01A-21D-A38G-08	0.662	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	1	0	1	2	2	2	2	0	0	0	0	81	81	81	81	1	1.890000	-20.000000	1	0.600000	NM_018058		0	64	63	0	206	203	1		1	0		0	0	81	0	0	1.000000	0	0	0	0	1	0	64	206
FAM178A	55719	broad.mit.edu	37	10	102672997	102672997	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:102672997C>T	ENST00000238961.4	+	1	672	c.130C>T	c.(130-132)Cct>Tct	p.P44S	FAM178A_ENST00000609386.1_Missense_Mutation_p.P44S|FAM178A_ENST00000370269.3_Missense_Mutation_p.P44S|FAM178A_ENST00000370271.3_Missense_Mutation_p.P44S|RP11-179B2.2_ENST00000608554.1_RNA	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	44						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AACAGAGAGTCCTGGGGACAG	0.682																																						ENST00000238961.4	1.000000	7.500000e-01	1	9.400000e-01	0.990000	0.974213	0.990000	1.000000																										0										c.(130-132)Cct>Tct		family with sequence similarity 178, member A							22.0	24.0	23.0					10																	102672997		2199	4300	6499	SO:0001583	missense	55719	2	121232	25				g.chr10:102672997C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.130C>T	chr10.hg19:g.102672997C>T	ENSP00000238961:p.Pro44Ser	0					FAM178A_ENST00000370271.3_Missense_Mutation_p.P44S|FAM178A_ENST00000609386.1_Missense_Mutation_p.P44S|FAM178A_ENST00000370269.3_Missense_Mutation_p.P44S|RP11-179B2.2_ENST00000608554.1_RNA	p.P44S	NM_018121.3	NP_060591.3	1	2	3	2.117229	Q8IX21	F178A_HUMAN		1	672	+			A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	1	1	hg19	c.130C>T	CCDS7500.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545875	0.86022	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.61392	0.11;0.85;0.81	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.000000	0.53938	D	0.000044	T	0.63745	0.2537	N	0.24115	0.695	0.35168	D	0.771306	D;D;D	0.89917	0.995;0.995;1.0	D;D;D	0.87578	0.919;0.919;0.998	T	0.72204	-0.4361	10	0.72032	D	0.01	-15.2639	14.5237	0.67873	0.0:1.0:0.0:0.0	.	44;44;44	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	S	44	ENSP00000359294:P44S;ENSP00000238961:P44S;ENSP00000359292:P44S	ENSP00000238961:P44S	P	+	1	0	0	FAM178A	102662987	102662987	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.254000	0.51477	2.890000	0.99128	0.585000	0.79938	CCT	0.604743		TCGA-2L-AAQA-01A-21D-A38G-08	0.682	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3	1	0	1	2	2	2	2	0	0	0	0	19	19	19	19	1	1.890000	-20.000000	1	0.600000			0	16	16	0	30	28	1		1	1		0	0	19	0	0	0.999973	9.857931e-01	0	11	0	6	0	16	30
HIPK3	10114	broad.mit.edu	37	11	33369721	33369721	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:33369721G>C	ENST00000303296.4	+	12	2621	c.2316G>C	c.(2314-2316)ttG>ttC	p.L772F	HIPK3_ENST00000525975.1_Intron|HIPK3_ENST00000456517.1_Intron|HIPK3_ENST00000379016.3_Intron	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	772	Interaction with AR. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GAGGTATTTTGGTAAAACTAA	0.363																																						ENST00000303296.4	1.000000	9.400000e-01	1	9.900000e-01	0.990000	0.996524	0.990000	1.000000																										0				39						c.(2314-2316)ttG>ttC		homeodomain interacting protein kinase 3							85.0	79.0	81.0					11																	33369721		2202	4298	6500	SO:0001583	missense	10114	0	0					g.chr11:33369721G>C	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2316G>C	chr11.hg19:g.33369721G>C	ENSP00000304226:p.Leu772Phe	0					HIPK3_ENST00000525975.1_Intron|HIPK3_ENST00000379016.3_Intron|HIPK3_ENST00000456517.1_Intron	p.L772F	NM_005734.3	NP_005725.3	0	0	0	2.071255	Q9H422	HIPK3_HUMAN		12	2621	+			O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	1	1	hg19	c.2316G>C	CCDS7884.1	1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517978	0.27211	.	.	ENSG00000110422	ENST00000303296	T	0.23348	1.91	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.162090	0.29314	N	0.012518	T	0.13713	0.0332	N	0.14661	0.345	0.80722	D	1	P	0.35908	0.527	B	0.33042	0.157	T	0.12066	-1.0562	10	0.09843	T	0.71	.	13.1561	0.59518	0.0728:0.0:0.9272:0.0	.	772	Q9H422	HIPK3_HUMAN	F	772	ENSP00000304226:L772F	ENSP00000304226:L772F	L	+	3	2	2	HIPK3	33326297	33326297	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.785000	0.55424	2.707000	0.92482	0.557000	0.71058	TTG	0.600000		TCGA-2L-AAQA-01A-21D-A38G-08	0.363	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	1	0	1	2	2	2	2	0	0	0	0	59	59	59	59	1	1.890000	-9.530416	1	0.600000	NM_005734		0	72	72	0	136	134	1		1	1		0	0	59	0	0	1.000000	9.977588e-01	0	11	0	10	0	72	136
PAMR1	25891	broad.mit.edu	37	11	35513689	35513689	+	Nonsense_Mutation	SNP	G	G	A	rs368867348		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:35513689G>A	ENST00000378880.2	-	3	728	c.283C>T	c.(283-285)Cga>Tga	p.R95*	PAMR1_ENST00000532848.1_Nonsense_Mutation_p.R55*|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Nonsense_Mutation_p.R95*|PAMR1_ENST00000278360.3_Nonsense_Mutation_p.R95*	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	95						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GAGCCATTTCGGCAGCTCTTG	0.522																																						ENST00000378880.2	1.000000	8.600000e-01	1	9.100000e-01	0.950000	0.957509	0.950000	1.000000																										0				26						c.(283-285)Cga>Tga		peptidase domain containing associated with muscle regeneration 1		G	stop/ARG,stop/ARG	1,4403	2.1+/-5.4	0,1,2201	183.0	179.0	181.0		283,283	3.1	1.0	11		181	0,8596		0,0,4298	no	stop-gained,stop-gained	PAMR1	NM_001001991.1,NM_015430.2	,	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,	95/721,95/738	35513689	1,12999	2202	4298	6500	SO:0001587	stop_gained	25891	3	121412	43				g.chr11:35513689G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.283C>T	chr11.hg19:g.35513689G>A	ENSP00000368158:p.Arg95*	0					PAMR1_ENST00000532848.1_Nonsense_Mutation_p.R55*|PAMR1_ENST00000378878.3_Nonsense_Mutation_p.R95*|PAMR1_ENST00000278360.3_Nonsense_Mutation_p.R95*|PAMR1_ENST00000534803.1_5'UTR	p.R95*	NM_001001991.1	NP_001001991.1	0	0	0	2.071255	Q6UXH9	PAMR1_HUMAN		3	728	-			A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Nonsense_Mutation	SNP	ENST00000378880.2	0	1	hg19	c.283C>T	CCDS31460.1	1	.	.	.	.	.	.	.	.	.	.	G	41	9.063677	0.99053	2.27E-4	0.0	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605;ENST00000529303	.	.	.	5.05	3.08	0.35506	5.05	3.08	0.35506	.	0.459441	0.22469	N	0.059650	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.6536	0.56776	0.0:0.0:0.5742:0.4258	.	.	.	.	X	95;95;95;55;55;95	.	ENSP00000278360:R95X	R	-	1	2	2	PAMR1	35470265	35470265	1.000000	0.71417	0.978000	0.43139	0.911000	0.54048	3.430000	0.52807	0.471000	0.27319	0.491000	0.48974	CGA	0.600000		TCGA-2L-AAQA-01A-21D-A38G-08	0.522	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	1	0	1	2	12	2	2	1	1	1	1	362	362	362	357	1	1.890000	-14.292280	1	0.600000	NM_015430		0	301	300	0	741	732	1		1	0		1	0	362	0	0	1.000000	9.244735e-01	0	0	0	13	0	301	741
PEX16	9409	broad.mit.edu	37	11	45936217	45936217	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:45936217C>T	ENST00000378750.5	-	6	722	c.479G>A	c.(478-480)gGc>gAc	p.G160D	PEX16_ENST00000241041.3_Missense_Mutation_p.G160D|PEX16_ENST00000532554.1_5'UTR|PEX16_ENST00000532681.1_Missense_Mutation_p.G65D			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	160					ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CTCATGGTTGCCAGGGCTGTG	0.582																																						ENST00000378750.5	1.000000	7.400000e-01	9.500000e-01	8.000000e-01	0.870000	0.880302	0.870000	1.000000																										0				7						c.(478-480)gGc>gAc		peroxisomal biogenesis factor 16							159.0	132.0	141.0					11																	45936217		2203	4299	6502	SO:0001583	missense	9409	0	0					g.chr11:45936217C>T	AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.479G>A	chr11.hg19:g.45936217C>T	ENSP00000368024:p.Gly160Asp	0					PEX16_ENST00000532554.1_5'UTR|PEX16_ENST00000241041.3_Missense_Mutation_p.G160D|PEX16_ENST00000532681.1_Missense_Mutation_p.G65D	p.G160D			0	0	0	2.071255	Q9Y5Y5	PEX16_HUMAN		6	722	-			Q9BWB9	Missense_Mutation	SNP	ENST00000378750.5	1	1	hg19	c.479G>A	CCDS31472.1	1	.	.	.	.	.	.	.	.	.	.	C	3.698	-0.062097	0.07317	.	.	ENSG00000121680	ENST00000241041;ENST00000378750;ENST00000532681;ENST00000533151;ENST00000525192	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.85	4.0	0.46444	5.85	4.0	0.46444	.	0.670270	0.16493	N	0.212040	T	0.13756	0.0333	L	0.31294	0.92	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.12156	0.007;0.004	T	0.32161	-0.9917	10	0.15952	T	0.53	-5.9846	8.1875	0.31348	0.0:0.7141:0.139:0.1469	.	160;160	Q9Y5Y5;Q9Y5Y5-2	PEX16_HUMAN;.	D	160;160;65;56;65	ENSP00000241041:G160D;ENSP00000368024:G160D;ENSP00000434654:G65D;ENSP00000433045:G56D;ENSP00000431309:G65D	ENSP00000241041:G160D	G	-	2	0	0	PEX16	45892793	45892793	0.123000	0.22298	0.047000	0.18901	0.134000	0.20937	0.876000	0.28092	0.827000	0.34685	-0.291000	0.09656	GGC	0.600000		TCGA-2L-AAQA-01A-21D-A38G-08	0.582	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	0	0	1	2	2	8	2	1	1	1	0	141	141	141	139	1	1.890000	-20.000000	1	0.600000	NM_057174		0	114	110	0	318	308	1		1	1		1	0	141	0	0	1.000000	1	0	106	0	132	0	114	318
OR5D13	390142	broad.mit.edu	37	11	55541761	55541761	+	Missense_Mutation	SNP	C	C	T	rs140938722	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:55541761C>T	ENST00000361760.1	+	1	848	c.848C>T	c.(847-849)gCg>gTg	p.A283V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TACACAGTGGCGATTCCAATG	0.363													C|||	5	0.000998403	0.0	0.0014	5008	,	,		507	0.002		0.0	False		,,,				2504	0.002					ENST00000361760.1	1.000000	9.900000e-01	1	9.900000e-01	0.990000	0.999547	0.990000	1.000000																										0				40						c.(847-849)gCg>gTg		olfactory receptor, family 5, subfamily D, member 13							79.0	66.0	70.0					11																	55541761		2200	4296	6496	SO:0001583	missense	390142	52	121378	47				g.chr11:55541761C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.848C>T	chr11.hg19:g.55541761C>T	ENSP00000354800:p.Ala283Val	0						p.A283V	NM_001001967.1	NP_001001967.1	0	0	0	2.071255	Q8NGL4	OR5DD_HUMAN		1	848	+		all_epithelial(135;0.196)	Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	1	0	hg19	c.848C>T	CCDS31507.1	1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	2	0.0034965034965034965	0	0.0	C	0	-2.801658	0.00075	.	.	ENSG00000198877	ENST00000361760	T	0.00013	9.25	3.68	1.18	0.20946	3.68	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.960258	0.08414	N	0.949423	T	0.00012	0.0000	N	0.00006	-3.225	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.49588	-0.8924	10	0.02654	T	1	-3.3382	3.6909	0.08346	0.1898:0.1116:0.0:0.6986	.	283	Q8NGL4	OR5DD_HUMAN	V	283	ENSP00000354800:A283V	ENSP00000354800:A283V	A	+	2	0	0	OR5D13	55298337	55298337	0.002000	0.14202	0.022000	0.16811	0.001000	0.01503	1.319000	0.33655	0.020000	0.15106	-1.495000	0.00966	GCG	0.600000		TCGA-2L-AAQA-01A-21D-A38G-08	0.363	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	1	0	1	2	2	2	2	0	0	0	0	110	110	110	110	1	1.890000	-14.940370	1	0.600000	NM_001001967		0	135	134	0	250	246	1		1			0	0	110	0	0	1.000000	0	0	0	0	0	0	135	250
FAM181B	220382	broad.mit.edu	37	11	82444594	82444594	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:82444594G>A	ENST00000329203.3	-	1	312	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	60										large_intestine(1)|lung(2)|prostate(1)	4						GTGGCCTCGCGCACGTCCCCT	0.662																																						ENST00000329203.3	0.290000	4.000000e-02	2.100000e-01	8.000000e-02	0.130000	0.151943	0.130000	0.120000																										0				4						c.(178-180)Cgc>Tgc		family with sequence similarity 181, member B							24.0	21.0	22.0					11																	82444594		2202	4300	6502	SO:0001583	missense	220382	0	0					g.chr11:82444594G>A	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.178C>T	chr11.hg19:g.82444594G>A	ENSP00000365295:p.Arg60Cys	0						p.R60C	NM_175885.3	NP_787081.2	0	0	0	2.073547	A6NEQ2	F181B_HUMAN		1	312	-			B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	0	1	hg19	c.178C>T	CCDS31648.1	0	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025614	0.35701	.	.	ENSG00000182103	ENST00000329203	T	0.34275	1.37	3.79	1.62	0.23740	3.79	1.62	0.23740	.	0.378309	0.21245	U	0.077752	T	0.41465	0.1160	L	0.43152	1.355	0.43919	D	0.996568	D	0.76494	0.999	D	0.63113	0.911	T	0.18366	-1.0339	9	.	.	.	.	6.0139	0.19592	0.0:0.1346:0.4145:0.4508	.	60	A6NEQ2	F181B_HUMAN	C	60	ENSP00000365295:R60C	.	R	-	1	0	0	FAM181B	82122242	82122242	1.000000	0.71417	0.998000	0.56505	0.004000	0.04260	2.558000	0.45879	0.771000	0.33359	-0.519000	0.04390	CGC	0.600000		TCGA-2L-AAQA-01A-21D-A38G-08	0.662	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	0	0	0	2	2	2	2	0	0	0	0	17	17	17	17	1	1.890000	-7.220390	1	0.600000	NM_175885		0	4	3	0	103	99	0		1	0		0	0	17	0	0	0.880154	2.502085e-03	0	0	0	2	0	4	103
KCNA6	3742	broad.mit.edu	37	12	4920011	4920011	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:4920011G>A	ENST00000280684.3	+	1	1670	c.804G>A	c.(802-804)acG>acA	p.T268T	KCNA6_ENST00000433855.1_Silent_p.T268T|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	268					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TGGTGGAGACGCTGTGCATTG	0.562										HNSCC(72;0.22)																												ENST00000280684.3	1.000000	8.600000e-01	1	9.300000e-01	0.990000	0.976558	0.990000	1.000000																										0				49						c.(802-804)acG>acA		potassium voltage-gated channel, shaker-related subfamily, member 6	Dalfampridine(DB06637)						89.0	88.0	89.0					12																	4920011		2203	4300	6503	SO:0001819	synonymous_variant	3742	0	0					g.chr12:4920011G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.804G>A	chr12.hg19:g.4920011G>A		0	HNSCC(72;0.22)				RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Silent_p.T268T	p.T268T			0	0	0	2.042440	P17658	KCNA6_HUMAN		1	1670	+				Silent	SNP	ENST00000280684.3	1	1	hg19	c.804G>A	CCDS8534.1	1																																																																																								0.595142		TCGA-2L-AAQA-01A-21D-A38G-08	0.562	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	1	0	1	2	2	2	2	0	0	0	0	147	147	147	146	1	1.890000	-20.000000	1	0.600000	NM_002235		0	143	141	0	324	322	1		1			0	0	147	0	0	1.000000	0	0	0	0	0	0	143	324
NCAPD2	9918	broad.mit.edu	37	12	6631057	6631057	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:6631057C>T	ENST00000315579.5	+	15	2607	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.S558L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	603	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCCAATATGTCGGATCCTGAG	0.483																																						ENST00000315579.5	0.110000	2.000000e-02	9.000000e-02	3.000000e-02	0.050000	0.064975	0.050000	0.060000																										0				48						c.(1807-1809)tCg>tTg		non-SMC condensin I complex, subunit D2							107.0	102.0	104.0					12																	6631057		2203	4300	6503	SO:0001583	missense	9918	0	0					g.chr12:6631057C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1808C>T	chr12.hg19:g.6631057C>T	ENSP00000325017:p.Ser603Leu	0					NCAPD2_ENST00000545962.1_Missense_Mutation_p.S558L	p.S603L	NM_014865.3	NP_055680.3	0	0	0	2.042440	Q15021	CND1_HUMAN		15	2607	+			D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	0	1	hg19	c.1808C>T	CCDS8548.1	0	.	.	.	.	.	.	.	.	.	.	C	6.832	0.522777	0.13066	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.31769	2.49;1.48;2.22	4.69	0.379	0.16213	4.69	0.379	0.16213	Armadillo-type fold (1);	0.958927	0.08648	N	0.914555	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.001	B;B;B	0.06405	0.002;0.0;0.001	T	0.30179	-0.9987	10	0.29301	T	0.29	0.0031	7.6424	0.28300	0.1363:0.5837:0.0:0.28	.	558;564;603	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	L	603;475;558;475	ENSP00000325017:S603L;ENSP00000371895:S475L;ENSP00000444417:S558L	ENSP00000325017:S603L	S	+	2	0	0	NCAPD2	6501318	6501318	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.426000	0.07008	-0.050000	0.13356	-1.736000	0.00690	TCG	0.595142		TCGA-2L-AAQA-01A-21D-A38G-08	0.483	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	0	0	1	2	12	4	2	1	1	1	1	129	129	129	129	1	1.890000	-3.228614	1	0.600000	NM_014865		0	7	6	0	396	394	0		0	0		1	0	129	0	0	0.171051	4.147525e-02	0	0	0	60	0	7	396
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	8.000000e-01	1	8.700000e-01	0.950000	0.945562	0.950000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	0	0		Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	chr12.hg19:g.25398284C>A	ENSP00000256078:p.Gly12Val	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	p.G12V	NM_033360.2	NP_203524.1	0	0	0	2.008629	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	1	1	hg19	c.35G>T	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.587629		TCGA-2L-AAQA-01A-21D-A38G-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	146	2	4	2	1	1	1	0	129	129	129	128	1	1.890000	-20.000000	1	0.600000	NM_033360		2498	101	101	5510	239	236	1	1	1	1	1	1	0	129	178	1	1.000000	9.999856e-01	1	28	68	29	251	101	239
CPNE8	144402	broad.mit.edu	37	12	39117617	39117617	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:39117617A>T	ENST00000331366.5	-	13	967	c.871T>A	c.(871-873)Ttg>Atg	p.L291M	CPNE8_ENST00000538596.2_5'Flank|CPNE8_ENST00000360449.3_Missense_Mutation_p.L279M	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	291						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GTTTCTACCAAGAAAGAGAGT	0.328																																						ENST00000331366.5	0.930000	6.800000e-01	8.700000e-01	7.400000e-01	0.800000	0.813416	0.800000	0.810000																										0				21						c.(871-873)Ttg>Atg		copine VIII							92.0	91.0	91.0					12																	39117617		2203	4300	6503	SO:0001583	missense	144402	0	0					g.chr12:39117617A>T	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.871T>A	chr12.hg19:g.39117617A>T	ENSP00000329748:p.Leu291Met	0					CPNE8_ENST00000360449.3_Missense_Mutation_p.L279M|CPNE8_ENST00000538596.2_5'Flank	p.L291M	NM_153634.2	NP_705898.1	0	0	0	2.008629	Q86YQ8	CPNE8_HUMAN		13	967	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	1	1	hg19	c.871T>A	CCDS8733.1	0	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781337	0.49891	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.25085	1.82;1.82	4.51	0.923	0.19413	4.51	0.923	0.19413	.	0.174644	0.38720	N	0.001594	T	0.20047	0.0482	L	0.35854	1.095	0.48762	D	0.999705	P	0.37207	0.587	B	0.42882	0.401	T	0.03534	-1.1027	10	0.59425	D	0.04	-5.3906	4.2841	0.10846	0.582:0.1718:0.2463:0.0	.	291	Q86YQ8	CPNE8_HUMAN	M	291;279	ENSP00000329748:L291M;ENSP00000353633:L279M	ENSP00000329748:L291M	L	-	1	2	2	CPNE8	37403884	37403884	0.989000	0.36119	0.997000	0.53966	0.989000	0.77384	0.619000	0.24388	0.317000	0.23160	0.460000	0.39030	TTG	0.587629		TCGA-2L-AAQA-01A-21D-A38G-08	0.328	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	1	0	1	2	2	2	2	0	0	0	0	151	151	151	149	1	1.890000	-20.000000	1	0.600000	NM_153634		0	130	130	0	388	383	1		1	1		0	0	151	0	0	1.000000	9.596372e-01	0	6	0	12	0	130	388
NCKAP5L	57701	broad.mit.edu	37	12	50191075	50191075	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:50191075T>A	ENST00000335999.6	-	8	769	c.568A>T	c.(568-570)Att>Ttt	p.I190F		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	186	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACCTCCAGAATCTGGGCCTTC	0.682																																						ENST00000335999.6	1.000000	8.000000e-01	1	9.000000e-01	0.990000	0.964849	0.990000	1.000000																										0				18						c.(568-570)Att>Ttt		NCK-associated protein 5-like							24.0	28.0	27.0					12																	50191075		1906	4117	6023	SO:0001583	missense	57701	0	0					g.chr12:50191075T>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.568A>T	chr12.hg19:g.50191075T>A	ENSP00000337998:p.Ile190Phe	0						p.I190F	NM_001037806.3	NP_001032895.2	0	0	0	2.008629	Q9HCH0	NCK5L_HUMAN		8	769	-			Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	1	1	hg19	c.568A>T	CCDS41781.2	1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465970	0.84425	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.63913	-0.07	4.3	4.3	0.51218	4.3	4.3	0.51218	.	.	.	.	.	T	0.71204	0.3312	L	0.42245	1.32	0.47153	D	0.999339	D	0.76494	0.999	D	0.87578	0.998	T	0.73372	-0.4003	9	0.59425	D	0.04	-4.9163	12.7587	0.57350	0.0:0.0:0.0:1.0	.	186	E2QRB5	.	F	190;186	ENSP00000337998:I190F	ENSP00000337998:I190F	I	-	1	0	0	NCKAP5L	48477342	48477342	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.480000	0.53172	1.717000	0.51406	0.379000	0.24179	ATT	0.587629		TCGA-2L-AAQA-01A-21D-A38G-08	0.682	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	1	0	1	2	2	2	2	0	0	0	0	56	56	56	53	1	1.890000	-20.000000	1	0.600000	XM_035497		0	56	56	0	122	122	1		1	1		0	0	56	0	0	1.000000	9.829473e-01	0	4	0	13	0	56	122
BTBD11	121551	broad.mit.edu	37	12	108013765	108013765	+	Missense_Mutation	SNP	G	G	A	rs201620480		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:108013765G>A	ENST00000280758.5	+	11	2983	c.2455G>A	c.(2455-2457)Gtc>Atc	p.V819I	BTBD11_ENST00000357167.4_Missense_Mutation_p.V356I|BTBD11_ENST00000420571.2_Missense_Mutation_p.V700I|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.V819I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	819						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGCTCCAGGCGTCCCGTGGAC	0.587																																						ENST00000280758.5	1.000000	5.600000e-01	9.000000e-01	6.600000e-01	0.770000	0.783994	0.770000	1.000000																										0				53						c.(2455-2457)Gtc>Atc		BTB (POZ) domain containing 11		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	25.0	24.0	24.0		1066,2455	5.2	1.0	12		24	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	BTBD11	NM_001017523.1,NM_001018072.1	29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	356/642,819/1105	108013765	2,13004	2203	4300	6503	SO:0001583	missense	121551	35	121406	41				g.chr12:108013765G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2455G>A	chr12.hg19:g.108013765G>A	ENSP00000280758:p.Val819Ile	0					BTBD11_ENST00000490090.2_Missense_Mutation_p.V819I|BTBD11_ENST00000420571.2_Missense_Mutation_p.V700I|BTBD11_ENST00000357167.4_Missense_Mutation_p.V356I|RP11-128P10.1_ENST00000548473.1_RNA	p.V819I	NM_001018072.1	NP_001018082.1	0	0	0	2.008629	A6QL63	BTBDB_HUMAN		11	2983	+			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	1	1	hg19	c.2455G>A	CCDS31893.1	0	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868192	0.91587	2.27E-4	1.16E-4	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.55052	0.65;0.65;0.67;0.54	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.117935	0.56097	D	0.000021	T	0.72495	0.3467	M	0.70275	2.135	0.80722	D	1	D;P;D;D	0.71674	0.998;0.508;0.987;0.99	D;B;B;P	0.73708	0.981;0.073;0.403;0.496	T	0.75560	-0.3275	10	0.66056	D	0.02	.	18.6524	0.91435	0.0:0.0:1.0:0.0	.	700;356;819;819	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	I	819;700;819;356	ENSP00000280758:V819I;ENSP00000413889:V700I;ENSP00000447319:V819I;ENSP00000349690:V356I	ENSP00000280758:V819I	V	+	1	0	0	BTBD11	106537895	106537895	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.975000	0.88055	2.398000	0.81561	0.650000	0.86243	GTC	0.587629		TCGA-2L-AAQA-01A-21D-A38G-08	0.587	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	0	0	1	2	2	2	2	0	0	0	0	36	36	36	35	1	1.890000	-3.017664	1	0.600000	NM_152322		0	32	30	0	101	101	1		1			0	0	36	0	0	1.000000	0	0	0	0	0	0	32	101
HECTD1	25831	broad.mit.edu	37	14	31576215	31576215	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:31576215T>A	ENST00000399332.1	-	38	7351	c.6863A>T	c.(6862-6864)tAt>tTt	p.Y2288F	HECTD1_ENST00000553700.1_Missense_Mutation_p.Y2288F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2288	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCGTGACTCATAAATCAGTTT	0.368																																						ENST00000399332.1	0.120000	3.000000e-02	1.000000e-01	5.000000e-02	0.070000	0.078078	0.070000	0.080000																										0				70						c.(6862-6864)tAt>tTt		HECT domain containing E3 ubiquitin protein ligase 1							82.0	77.0	79.0					14																	31576215		1851	4100	5951	SO:0001583	missense	25831	1	120808	30				g.chr14:31576215T>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6863A>T	chr14.hg19:g.31576215T>A	ENSP00000382269:p.Tyr2288Phe	0					HECTD1_ENST00000553700.1_Missense_Mutation_p.Y2288F	p.Y2288F	NM_015382.2	NP_056197.2	0	0	0	2.052130	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	38	7351	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	1	1	hg19	c.6863A>T	CCDS41939.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.57|11.57	1.677590|1.677590	0.29783|0.29783	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332	.|T;T	.|0.39406	.|1.08;1.08	5.96|5.96	5.96|5.96	0.96718|0.96718	5.96|5.96	5.96|5.96	0.96718|0.96718	.|HECT (4);	.|0.085238	.|0.49305	.|U	.|0.000145	T|T	0.38161|0.38161	0.1030|0.1030	N|N	0.03608|0.03608	-0.345|-0.345	0.58432|0.58432	D|D	0.999996|0.999996	.|D	.|0.57257	.|0.979	.|D	.|0.71414	.|0.973	T|T	0.39563|0.39563	-0.9608|-0.9608	5|10	.|0.11794	.|T	.|0.64	-10.4726|-10.4726	15.0049|15.0049	0.71504|0.71504	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2288	.|Q9ULT8	.|HECD1_HUMAN	L|F	654|2288;2290;2288	.|ENSP00000450697:Y2288F;ENSP00000382269:Y2288F	.|ENSP00000261312:Y2290F	M|Y	-|-	1|2	0|0	0|0	HECTD1|HECTD1	30645966|30645966	30645966|30645966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.694000|7.694000	0.84235|0.84235	2.270000|2.270000	0.75569|0.75569	0.533000|0.533000	0.62120|0.62120	ATG|TAT	0.597586		TCGA-2L-AAQA-01A-21D-A38G-08	0.368	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1	0	0	1	2	15	5	2	1	1	1	1	134	134	134	132	1	1.890000	-10.451700	1	0.600000			0	12	12	0	537	536	0		0	0		1	0	134	0	0	0.345185	1.834330e-01	0	0	0	123	0	12	537
MAGEL2	54551	broad.mit.edu	37	15	23890209	23890209	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:23890209G>A	ENST00000532292.1	-	1	966	c.872C>T	c.(871-873)gCc>gTc	p.A291V		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	174					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GTCCTCTTGGGCTTCCAGATG	0.632																																						ENST00000532292.1	0.230000	8.000000e-02	1.900000e-01	1.100000e-01	0.140000	0.157810	0.140000	0.150000																										0				7						c.(871-873)gCc>gTc		MAGE-like 2							46.0	53.0	51.0					15																	23890209		2177	4288	6465	SO:0001583	missense	54551	0	0					g.chr15:23890209G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.872C>T	chr15.hg19:g.23890209G>A	ENSP00000433433:p.Ala291Val	1						p.A291V	NM_019066.4	NP_061939.3	0	1	1	1.428970	Q9UJ55	MAGL2_HUMAN		1	966	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		Missense_Mutation	SNP	ENST00000532292.1	1	1	hg19	c.872C>T		0	.	.	.	.	.	.	.	.	.	.	G	7.175	0.588375	0.13812	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.22	3.3	0.37823	4.22	3.3	0.37823	.	.	.	.	.	T	0.18593	0.0446	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.19877	-1.0292	5	.	.	.	.	7.8726	0.29576	0.1098:0.0:0.8901:0.0	.	.	.	.	S	323	.	.	P	-	1	0	0	MAGEL2	21441302	21441302	0.001000	0.12720	0.002000	0.10522	0.299000	0.27559	0.810000	0.27183	1.364000	0.46038	0.655000	0.94253	CCC	0.428571		TCGA-2L-AAQA-01A-21D-A38G-08	0.632	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	1	0	1	2	2	2	2	0	0	0	0	118	118	118	115	1	1.890000	-19.366610	1	0.600000	NM_019066		0	16	16	0	232	223	0		1	0		0	0	118	0	0	0.999921	0	0	0	0	1	0	16	232
ISLR2	57611	broad.mit.edu	37	15	74425848	74425848	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:74425848C>T	ENST00000361742.3	+	4	1522	c.753C>T	c.(751-753)cgC>cgT	p.R251R	ISLR2_ENST00000445793.1_Silent_p.R251R|ISLR2_ENST00000419208.1_Silent_p.R251R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.R251R|ISLR2_ENST00000565540.1_Silent_p.R251R|ISLR2_ENST00000435464.1_Silent_p.R251R|ISLR2_ENST00000453268.2_Silent_p.R251R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	251	Ig-like.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCCCACTGCGCGCAGGACTGG	0.677																																						ENST00000361742.3			0	0																														0				36						c.(751-753)cgC>cgT		immunoglobulin superfamily containing leucine-rich repeat 2							35.0	34.0	34.0					15																	74425848		2196	4296	6492	SO:0001819	synonymous_variant	57611	0	0					g.chr15:74425848C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.753C>T	chr15.hg19:g.74425848C>T							ISLR2_ENST00000453268.2_Silent_p.R251R|ISLR2_ENST00000565540.1_Silent_p.R251R|ISLR2_ENST00000435464.1_Silent_p.R251R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000419208.1_Silent_p.R251R|ISLR2_ENST00000565159.1_Silent_p.R251R|ISLR2_ENST00000445793.1_Silent_p.R251R	p.R251R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1					Q6UXK2	ISLR2_HUMAN		4	1522	+			A8K352|Q9P263	Silent	SNP	ENST00000361742.3	1	1	hg19	c.753C>T	CCDS10259.1																																																																																											TCGA-2L-AAQA-01A-21D-A38G-08	0.677	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	1	0	1	2	2	2	2	0	0	0	0	94	94	94	94	1	1.890000	-20.000000	1	0.600000	NM_020851		0	90	88	0	188	185	1		1	0		0	0	94	0	0	1.000000	2.475146e-01	0	0	0	3	0	90	188
CCL8	6355	broad.mit.edu	37	17	32647821	32647821	+	Splice_Site	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:32647821C>T	ENST00000394620.1	+	3	661	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	65					calcium ion transport (GO:0006816)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|exocytosis (GO:0006887)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TCCCCCACAGCTTCAAGACCA	0.512																																						ENST00000394620.1	0.960000	5.900000e-01	8.800000e-01	6.800000e-01	0.780000	0.787428	0.780000	0.790000																										0				4						c.(193-195)atC>atT		chemokine (C-C motif) ligand 8							70.0	59.0	63.0					17																	32647821		2203	4300	6503	SO:0001630	splice_region_variant	6355	0	0					g.chr17:32647821C>T	X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700		"""Chemokine ligands"", ""Endogenous ligands"""	10635	protein-coding gene	gene with protein product		602283	"""small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)"""	SCYA8		9119400	Standard	NM_005623		Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883	ENST00000394620.1:c.195-1C>T	chr17.hg19:g.32647821C>T		1						p.I65I	NM_005623.2	NP_005614.2	0	1	1	1.479540	P80075	CCL8_HUMAN		3	661	+		Ovarian(249;0.0443)|Breast(31;0.151)	A0AV77|P78388	Splice_Site	SNP	ENST00000394620.1	1	0	hg19	c.195C>T	CCDS11280.1	0																																																																																								0.431010		TCGA-2L-AAQA-01A-21D-A38G-08	0.512	CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256376.2	1	0	1	2	2	2	2	0	0	0	0	72	72	72	70	1	1.890000	-20.000000	1	0.600000	NM_005623	Silent	0	40	39	0	78	73	1		1	0		0	0	72	0	0	1.000000	0	0	0	0	1	0	40	78
RNF43	54894	broad.mit.edu	37	17	56492899	56492899	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:56492899G>A	ENST00000584437.1	-	1	1995	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Missense_Mutation_p.P14S|RNF43_ENST00000583753.1_Missense_Mutation_p.P14S|RNF43_ENST00000577716.1_Missense_Mutation_p.P14S|RNF43_ENST00000407977.2_Missense_Mutation_p.P14S|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000580014.1_5'Flank			Q68DV7	RNF43_HUMAN	ring finger protein 43	14					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCAGCCAGGGCCAGAGGGCA	0.552																																						ENST00000584437.1	0.850000	5.400000e-01	7.800000e-01	6.100000e-01	0.690000	0.698904	0.690000	0.690000																										0				60						c.(40-42)Ccc>Tcc		ring finger protein 43							33.0	31.0	32.0					17																	56492899		2200	4293	6493	SO:0001583	missense	54894	0	0					g.chr17:56492899G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.40C>T	chr17.hg19:g.56492899G>A	ENSP00000463069:p.Pro14Ser	1					RNF43_ENST00000583753.1_Missense_Mutation_p.P14S|RNF43_ENST00000580014.1_5'Flank|RNF43_ENST00000577716.1_Missense_Mutation_p.P14S|RNF43_ENST00000500597.2_Missense_Mutation_p.P14S|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.P14S|RNF43_ENST00000581868.1_Intron	p.P14S			0	1	1	1.475023	Q68DV7	RNF43_HUMAN		1	1995	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	1	0	hg19	c.40C>T	CCDS11607.1	0	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492626	0.84962	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.23950	2.6;1.88	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000008	T	0.37237	0.0996	N	0.14661	0.345	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.32798	-0.9893	10	0.62326	D	0.03	-25.2822	19.1688	0.93569	0.0:0.0:1.0:0.0	.	14;14	Q68DV7-2;Q68DV7	.;RNF43_HUMAN	S	14	ENSP00000385328:P14S;ENSP00000441969:P14S	ENSP00000385328:P14S	P	-	1	0	0	RNF43	53847898	53847898	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.758000	0.91663	2.840000	0.97914	0.655000	0.94253	CCC	0.431010		TCGA-2L-AAQA-01A-21D-A38G-08	0.552	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	1	0	0	2	2	2	2	0	0	0	0	107	107	107	107	1	1.890000	-20.000000	1	0.600000	NM_017763		0	51	51	0	120	119	1		1	1	1	0	0	107	227	0	1.000000	9.466499e-01	1	14	128	0	200	51	120
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4	1.000000	8.800000e-01	1	9.300000e-01	0.970000	0.967531	0.970000	0.990000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	1	121412	41	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	chr17.hg19:g.7578406C>T	ENSP00000269305:p.Arg175His	1	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	0	1	1	1.491143	P04637	P53_HUMAN		5	713	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	1	1	hg19	c.524G>A	CCDS11118.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	0	TP53	7519131	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	0.428571		TCGA-2L-AAQA-01A-21D-A38G-08	0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	2	2	2	2	0	0	0	0	152	152	152	152	1	1.890000	-20.000000	1	0.600000	NM_000546		0	134	134	0	159	157	1		1	1	1	0	0	152	514	0	1.000000	1	1	47	330	15	366	134	159
EXOC7	23265	broad.mit.edu	37	17	74097870	74097870	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:74097870C>T	ENST00000335146.7	-	3	254	c.201G>A	c.(199-201)acG>acA	p.T67T	EXOC7_ENST00000332065.5_Silent_p.T67T|EXOC7_ENST00000607838.1_Silent_p.T67T|EXOC7_ENST00000406660.3_Silent_p.T67T|EXOC7_ENST00000589210.1_Silent_p.T67T|EXOC7_ENST00000411744.2_Silent_p.T67T|EXOC7_ENST00000467929.2_Silent_p.T26T|EXOC7_ENST00000405575.4_Silent_p.T67T			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	67					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCAGATTCTCCGTCTGCTTGT	0.522																																						ENST00000335146.7	1.000000	8.700000e-01	1	9.300000e-01	0.970000	0.969823	0.970000	1.000000																										0				14						c.(199-201)acG>acA		exocyst complex component 7							95.0	86.0	89.0					17																	74097870		2203	4300	6503	SO:0001819	synonymous_variant	23265	1	121412	27				g.chr17:74097870C>T	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.201G>A	chr17.hg19:g.74097870C>T		1					EXOC7_ENST00000467929.2_Silent_p.T26T|EXOC7_ENST00000332065.5_Silent_p.T67T|EXOC7_ENST00000589210.1_Silent_p.T67T|EXOC7_ENST00000405575.4_Silent_p.T67T|EXOC7_ENST00000411744.2_Silent_p.T67T|EXOC7_ENST00000607838.1_Silent_p.T67T|EXOC7_ENST00000406660.3_Silent_p.T67T	p.T67T			0	1	1	1.486540	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)	3	254	-			B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Silent	SNP	ENST00000335146.7	1	1	hg19	c.201G>A	CCDS45782.1	1																																																																																								0.431010		TCGA-2L-AAQA-01A-21D-A38G-08	0.522	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	1	0	1	2	2	2	2	0	0	0	0	120	120	120	118	1	1.890000	-19.975330	1	0.600000	NM_015219		0	106	103	0	124	123	1		1	1		0	0	120	0	0	1.000000	1	0	19	0	21	0	106	124
RAB40B	10966	broad.mit.edu	37	17	80616499	80616499	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:80616499C>T	ENST00000571995.1	-	5	564	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	RAB40B_ENST00000538809.2_Intron|RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000571880.1_5'Flank	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	145					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			AGGCGCTCGGCGTAGGCCTGG	0.652																																						ENST00000571995.1	0.920000	6.400000e-01	8.600000e-01	7.000000e-01	0.770000	0.786322	0.770000	0.780000																										0				10						c.(433-435)Gcc>Acc		RAB40B, member RAS oncogene family							39.0	40.0	40.0					17																	80616499		2203	4300	6503	SO:0001583	missense	10966	1	121400	29				g.chr17:80616499C>T	U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"""RAB, member RAS oncogene"""	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.433G>A	chr17.hg19:g.80616499C>T	ENSP00000461785:p.Ala145Thr	1					RAB40B_ENST00000571880.1_5'Flank|RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Intron	p.A145T	NM_006822.2	NP_006813.1	0	1	1	1.486540	Q12829	RB40B_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)	5	564	-	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	Q8WVG3	Missense_Mutation	SNP	ENST00000571995.1	1	1	hg19	c.433G>A	CCDS11816.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.306869	0.95629	.	.	ENSG00000141542	ENST00000269347;ENST00000538809	.	.	.	3.84	3.84	0.44239	3.84	3.84	0.44239	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000008	D	0.84804	0.5553	M	0.93678	3.445	0.80722	D	1	D	0.71674	0.998	D	0.63597	0.916	D	0.89908	0.4049	9	0.87932	D	0	.	16.2189	0.82244	0.0:1.0:0.0:0.0	.	145	Q12829	RB40B_HUMAN	T	145;179	.	ENSP00000269347:A145T	A	-	1	0	0	RAB40B	78209788	78209788	1.000000	0.71417	0.792000	0.32020	0.907000	0.53573	5.860000	0.69546	2.082000	0.62665	0.591000	0.81541	GCC	0.431010		TCGA-2L-AAQA-01A-21D-A38G-08	0.652	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1	1	0	1	2	2	2	2	0	0	0	0	100	100	100	100	1	1.890000	-20.000000	1	0.600000			0	78	78	0	154	150	1		1	1		0	0	100	0	0	1.000000	9.985576e-01	0	16	0	7	0	78	154
CDH2	1000	broad.mit.edu	37	18	25570188	25570188	+	Missense_Mutation	SNP	C	C	T	rs201148355		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:25570188C>T	ENST00000269141.3	-	10	1894	c.1471G>A	c.(1471-1473)Gta>Ata	p.V491I	CDH2_ENST00000399380.3_Missense_Mutation_p.V460I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	491	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.V491I(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTTCATTTACGTCAATAACT	0.468																																						ENST00000269141.3	1.000000	9.000000e-01	1	9.400000e-01	0.980000	0.978490	0.980000	1.000000																										1	Substitution - Missense(1)	p.V491I(1)	cervix(1)	82						c.(1471-1473)Gta>Ata		cadherin 2, type 1, N-cadherin (neuronal)		C	ILE/VAL	0,4406		0,0,2203	133.0	123.0	127.0		1471	6.2	1.0	18		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH2	NM_001792.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	491/907	25570188	1,13005	2203	4300	6503	SO:0001583	missense	1000	3	121412	40				g.chr18:25570188C>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1471G>A	chr18.hg19:g.25570188C>T	ENSP00000269141:p.Val491Ile	1					CDH2_ENST00000399380.3_Missense_Mutation_p.V460I	p.V491I	NM_001792.3	NP_001783.2	0	1	1	1.506894	P19022	CADH2_HUMAN		10	1894	-			A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	1	1	hg19	c.1471G>A	CCDS11891.1	1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871347	0.72065	0.0	1.16E-4	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.62232	0.04;0.04	6.16	6.16	0.99307	6.16	6.16	0.99307	Cadherin (3);Cadherin-like (1);	0.056760	0.64402	D	0.000001	T	0.61476	0.2350	L	0.49699	1.58	0.80722	D	1	B;B	0.17268	0.021;0.007	B;B	0.08055	0.003;0.001	T	0.53961	-0.8364	10	0.49607	T	0.09	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	460;491	A8MWK3;P19022	.;CADH2_HUMAN	I	491;460	ENSP00000269141:V491I;ENSP00000382312:V460I	ENSP00000269141:V491I	V	-	1	0	0	CDH2	23824186	23824186	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GTA	0.431010		TCGA-2L-AAQA-01A-21D-A38G-08	0.468	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	1	0	1	2	2	2	2	0	0	0	0	158	158	158	158	1	1.890000	-20.000000	1	0.600000	NM_001792		0	154	150	0	181	176	1		1	0		0	0	158	0	0	1.000000	9.413594e-01	0	0	0	8	0	154	181
ALPK2	115701	broad.mit.edu	37	18	56246544	56246544	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:56246544A>T	ENST00000361673.3	-	4	1677	c.1464T>A	c.(1462-1464)gaT>gaA	p.D488E	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	488						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTACTGATTCATCCATGTTGA	0.493											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3	1.000000	8.700000e-01	1	9.200000e-01	0.960000	0.964200	0.960000	1.000000																										0				84						c.(1462-1464)gaT>gaA		alpha-kinase 2							148.0	149.0	148.0					18																	56246544		2203	4300	6503	SO:0001583	missense	115701	0	0					g.chr18:56246544A>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1464T>A	chr18.hg19:g.56246544A>T	ENSP00000354991:p.Asp488Glu	1		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	ALPK2_ENST00000587399.1_5'Flank	p.D488E	NM_052947.3	NP_443179.3	0	1	1	1.506894	Q86TB3	ALPK2_HUMAN		4	1677	-			Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	1	1	hg19	c.1464T>A	CCDS11966.2	1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.251969	0.22880	.	.	ENSG00000198796	ENST00000361673	T	0.54479	0.57	5.34	-0.259	0.12971	5.34	-0.259	0.12971	.	0.515524	0.15105	N	0.280317	T	0.31231	0.0790	L	0.33485	1.01	0.09310	N	1	B	0.32829	0.386	B	0.24269	0.052	T	0.09122	-1.0689	10	0.35671	T	0.21	-8.4846	4.6008	0.12352	0.3972:0.4204:0.0685:0.1138	.	488	Q86TB3	ALPK2_HUMAN	E	488	ENSP00000354991:D488E	ENSP00000354991:D488E	D	-	3	2	2	ALPK2	54397524	54397524	0.027000	0.19231	0.028000	0.17463	0.004000	0.04260	0.054000	0.14205	-0.291000	0.09012	-0.313000	0.08912	GAT	0.431010		TCGA-2L-AAQA-01A-21D-A38G-08	0.493	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	1	0	1	2	2	2	2	0	0	0	0	228	228	228	228	1	1.890000	-20.000000	1	0.600000	NM_052947		0	169	169	0	223	222	1		1			0	0	228	0	0	1.000000	0	0	0	0	0	0	169	223
RASAL3	64926	broad.mit.edu	37	19	15567402	15567402	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:15567402G>A	ENST00000343625.7	-	10	1572	c.1487C>T	c.(1486-1488)gCg>gTg	p.A496V	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	496	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAACAGCAGCGCCTCACGGCC	0.617																																						ENST00000343625.7	1.000000	7.100000e-01	1	8.200000e-01	0.940000	0.922540	0.940000	1.000000																										0				18						c.(1486-1488)gCg>gTg		RAS protein activator like 3							67.0	72.0	70.0					19																	15567402		2182	4278	6460	SO:0001583	missense	64926	0	0					g.chr19:15567402G>A		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.1487C>T	chr19.hg19:g.15567402G>A	ENSP00000341905:p.Ala496Val	0					RASAL3_ENST00000608577.1_5'Flank	p.A496V	NM_022904.1	NP_075055.1	0	0	0	2.067134	Q86YV0	RASL3_HUMAN		10	1572	-			Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	1	1	hg19	c.1487C>T	CCDS46006.1	1	.	.	.	.	.	.	.	.	.	.	g	19.47	3.834497	0.71373	.	.	ENSG00000105122	ENST00000343625	T	0.79554	-1.28	4.37	4.37	0.52481	4.37	4.37	0.52481	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.212338	0.22735	U	0.056263	T	0.82098	0.4963	L	0.49350	1.555	0.38814	D	0.955492	D	0.56968	0.978	P	0.54312	0.748	T	0.80476	-0.1366	10	0.23302	T	0.38	.	14.8191	0.70059	0.0:0.0:1.0:0.0	.	496	Q86YV0	RASL3_HUMAN	V	496	ENSP00000341905:A496V	ENSP00000341905:A496V	A	-	2	0	0	RASAL3	15428402	15428402	0.007000	0.16637	1.000000	0.80357	0.994000	0.84299	1.074000	0.30703	2.158000	0.67659	0.558000	0.71614	GCG	0.600000		TCGA-2L-AAQA-01A-21D-A38G-08	0.617	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	1	0	1	2	2	2	2	0	0	0	0	39	39	39	38	1	1.890000	-20.000000	1	0.600000	NM_022904		0	42	43	0	106	106	1		1	0		0	0	39	0	0	1.000000	3.256585e-01	0	0	0	4	0	42	106
PDCD2L	84306	broad.mit.edu	37	19	34912428	34912428	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:34912428T>C	ENST00000246535.3	+	6	849	c.802T>C	c.(802-804)Tcc>Ccc	p.S268P	RN7SL154P_ENST00000578043.1_RNA|PDCD2L_ENST00000587065.2_5'UTR	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	268					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCCTAGGTATTCCTGGAGTGG	0.493																																						ENST00000246535.3	1.000000	9.000000e-01	1	9.500000e-01	0.990000	0.982919	0.990000	1.000000																										0				11						c.(802-804)Tcc>Ccc		programmed cell death 2-like							198.0	213.0	208.0					19																	34912428		2203	4300	6503	SO:0001583	missense	84306	0	0					g.chr19:34912428T>C	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.802T>C	chr19.hg19:g.34912428T>C	ENSP00000246535:p.Ser268Pro	0					PDCD2L_ENST00000587065.2_5'UTR|RN7SL154P_ENST00000578043.1_RNA	p.S268P	NM_032346.1	NP_115722.1	0	0	0	2.067134	Q9BRP1	PDD2L_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)	6	849	+	Esophageal squamous(110;0.162)			Missense_Mutation	SNP	ENST00000246535.3	1	1	hg19	c.802T>C	CCDS12438.1	1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.486734	0.63962	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.98	4.94	0.65067	5.98	4.94	0.65067	Programmed cell death protein 2, C-terminal (1);	0.144113	0.64402	D	0.000004	T	0.81451	0.4825	M	0.91196	3.185	0.41755	D	0.989686	D	0.76494	0.999	D	0.73708	0.981	D	0.83431	0.0038	9	0.48119	T	0.1	-15.8635	11.5108	0.50492	0.1347:0.0:0.0:0.8653	.	268	Q9BRP1	PDD2L_HUMAN	P	268	.	ENSP00000246535:S268P	S	+	1	0	0	PDCD2L	39604268	39604268	1.000000	0.71417	0.999000	0.59377	0.749000	0.42624	3.088000	0.50175	1.048000	0.40298	0.477000	0.44152	TCC	0.600000		TCGA-2L-AAQA-01A-21D-A38G-08	0.493	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	1	0	1	2	2	2	2	0	0	0	0	451	451	451	448	1	1.890000	-20.000000	1	0.600000	NM_032346		0	345	341	0	803	785	1		1	1		0	0	451	0	0	1.000000	9.999897e-01	0	15	0	26	0	345	803
SBK2	646643	broad.mit.edu	37	19	56042597	56042597	+	Silent	SNP	G	G	A	rs200066533	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56042597G>A	ENST00000413299.1	-	3	406	c.369C>T	c.(367-369)taC>taT	p.Y123Y	SBK2_ENST00000344158.3_Silent_p.Y123Y	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGCCAATGCCGTAGGCCGTCA	0.642																																						ENST00000413299.1	1.000000	7.700000e-01	1	8.700000e-01	0.980000	0.951894	0.980000	1.000000																										0				9						c.(367-369)taC>taT		SH3 domain binding kinase family, member 2							48.0	55.0	52.0					19																	56042597		2165	4254	6419	SO:0001819	synonymous_variant	646643	0	0					g.chr19:56042597G>A		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.369C>T	chr19.hg19:g.56042597G>A		0					SBK2_ENST00000344158.3_Silent_p.Y123Y	p.Y123Y	NM_001101401.2	NP_001094871.2	1	2	3	2.123521	P0C263	SBK2_HUMAN		3	406	-				Silent	SNP	ENST00000413299.1	1	1	hg19	c.369C>T	CCDS42631.1	1																																																																																								0.605911		TCGA-2L-AAQA-01A-21D-A38G-08	0.642	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	1	0	1	2	2	2	2	0	0	0	0	65	65	65	65	1	1.890000	-6.138701	1	0.600000	NM_001101401		0	57	56	0	139	137	1		1			0	0	65	0	0	1.000000	0	0	0	0	0	0	57	139
MYO1F	4542	broad.mit.edu	37	19	8595429	8595429	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:8595429C>T	ENST00000338257.8	-	20	2339	c.2072G>A	c.(2071-2073)cGa>cAa	p.R691Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	691					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATCGAACTTTCGCTCTCGCAC	0.647																																						ENST00000338257.8	0.150000	5.000000e-02	1.200000e-01	7.000000e-02	0.090000	0.101187	0.090000	0.100000																										0				42						c.(2071-2073)cGa>cAa		myosin IF							82.0	87.0	86.0					19																	8595429		2007	4161	6168	SO:0001583	missense	4542	0	0					g.chr19:8595429C>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2072G>A	chr19.hg19:g.8595429C>T	ENSP00000344871:p.Arg691Gln	0						p.R691Q	NM_012335.3	NP_036467.2	0	0	0	2.067134	O00160	MYO1F_HUMAN		20	2339	-			Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	1	1	hg19	c.2072G>A	CCDS42494.1	0	.	.	.	.	.	.	.	.	.	.	C	36	5.683094	0.96774	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.95205	-3.64	5.36	5.36	0.76844	5.36	5.36	0.76844	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.96259	0.8780	M	0.81942	2.565	0.80722	D	1	D	0.63880	0.993	P	0.54174	0.744	D	0.95729	0.8773	10	0.41790	T	0.15	.	18.1619	0.89710	0.0:1.0:0.0:0.0	.	691	O00160	MYO1F_HUMAN	Q	736;691	ENSP00000344871:R691Q	ENSP00000304899:R736Q	R	-	2	0	0	MYO1F	8501429	8501429	1.000000	0.71417	0.952000	0.39060	0.951000	0.60555	7.748000	0.85085	2.532000	0.85374	0.555000	0.69702	CGA	0.600000		TCGA-2L-AAQA-01A-21D-A38G-08	0.647	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2	0	0	1	2	2	2	2	0	0	0	0	219	219	219	218	1	1.890000	-3.016125	1	0.600000			0	20	20	0	669	654	0		1	0		0	0	219	0	0	0.999994	7.598679e-02	0	0	0	15	0	20	669
ZNF787	126208	broad.mit.edu	37	19	56600294	56600294	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56600294G>A	ENST00000270459.3	-	3	365	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGCTGGTGCCGCGTCAGCTTG	0.721																																						ENST00000270459.3	1.000000	6.200000e-01	9.600000e-01	7.200000e-01	0.830000	0.836174	0.830000	1.000000																										0				5						c.(247-249)Cgg>Tgg		zinc finger protein 787							14.0	15.0	15.0					19																	56600294		2187	4273	6460	SO:0001583	missense	126208	0	0					g.chr19:56600294G>A	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.247C>T	chr19.hg19:g.56600294G>A	ENSP00000270459:p.Arg83Trp	0						p.R83W	NM_001002836.2	NP_001002836	1	2	3	2.123521	Q6DD87	ZN787_HUMAN		3	365	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	O00455	Missense_Mutation	SNP	ENST00000270459.3	1	1	hg19	c.247C>T	CCDS42634.1	0	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406781	0.62399	.	.	ENSG00000142409	ENST00000270459	T	0.56275	0.47	3.22	3.22	0.36961	3.22	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73860	0.3641	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.78902	-0.2021	9	0.59425	D	0.04	-20.4997	12.27	0.54700	0.0:0.0:1.0:0.0	.	83	Q6DD87	ZN787_HUMAN	W	83	ENSP00000270459:R83W	ENSP00000270459:R83W	R	-	1	2	2	ZNF787	61292106	61292106	0.000000	0.05858	0.980000	0.43619	0.978000	0.69477	-0.893000	0.04127	1.812000	0.52913	0.462000	0.41574	CGG	0.605911		TCGA-2L-AAQA-01A-21D-A38G-08	0.721	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	1	0	1	2	2	2	2	0	0	0	0	51	51	51	50	1	1.890000	-20.000000	1	0.600000	NM_001002836		0	43	43	0	133	132	0		1	1		0	0	51	0	0	1.000000	9.999788e-01	0	30	0	25	0	43	133
AGL	178	broad.mit.edu	37	1	100336383	100336383	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:100336383G>A	ENST00000294724.4	+	7	1394	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	AGL_ENST00000370161.2_Missense_Mutation_p.V290I|AGL_ENST00000361302.3_Missense_Mutation_p.V290I|AGL_ENST00000370163.3_Missense_Mutation_p.V306I|AGL_ENST00000361915.3_Missense_Mutation_p.V306I|AGL_ENST00000370165.3_Missense_Mutation_p.V306I|AGL_ENST00000361522.4_Missense_Mutation_p.V289I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	306					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CCAAGTAGATGTCAACAAAGC	0.303																																						ENST00000294724.4	0.930000	6.400000e-01	8.600000e-01	7.000000e-01	0.780000	0.790369	0.780000	0.790000																										0				69						c.(916-918)Gtc>Atc		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							34.0	39.0	37.0					1																	100336383		2176	4279	6455	SO:0001583	missense	178	1	121298	28				g.chr1:100336383G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.916G>A	chr1.hg19:g.100336383G>A	ENSP00000294724:p.Val306Ile	1					AGL_ENST00000370161.2_Missense_Mutation_p.V290I|AGL_ENST00000361522.4_Missense_Mutation_p.V289I|AGL_ENST00000361302.3_Missense_Mutation_p.V290I|AGL_ENST00000370165.3_Missense_Mutation_p.V306I|AGL_ENST00000361915.3_Missense_Mutation_p.V306I|AGL_ENST00000370163.3_Missense_Mutation_p.V306I	p.V306I	NM_000028.2	NP_000019.2	0	1	1	1.507771	P35573	GDE_HUMAN		7	1394	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	1	1	hg19	c.916G>A	CCDS759.1	0	.	.	.	.	.	.	.	.	.	.	g	5.406	0.260007	0.10239	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.34	1.41	0.22369	5.34	1.41	0.22369	Glycoside hydrolase, superfamily (1);	0.273612	0.36101	N	0.002797	T	0.60843	0.2300	L	0.39898	1.24	0.09310	N	0.999996	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.14578	0.011;0.011;0.007	T	0.53760	-0.8393	10	0.30078	T	0.28	.	9.6993	0.40175	0.2549:0.0:0.7451:0.0	.	289;290;306	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	I	306;306;306;306;290;290;289	ENSP00000355106:V306I;ENSP00000359184:V306I;ENSP00000359182:V306I;ENSP00000294724:V306I;ENSP00000354971:V290I;ENSP00000359180:V290I;ENSP00000354635:V289I	ENSP00000294724:V306I	V	+	1	0	0	AGL	100108971	100108971	0.990000	0.36364	0.001000	0.08648	0.123000	0.20343	2.092000	0.41700	0.073000	0.16731	-0.796000	0.03273	GTC	0.431010		TCGA-2L-AAQA-01A-21D-A38G-08	0.303	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	1	0	1	2	2	2	2	0	0	0	0	120	120	120	119	1	1.890000	-20.000000	1	0.600000	NM_000028		0	70	70	0	137	136	1		1	0		0	0	120	0	0	1.000000	1.164730e-01	0	1	0	1	0	70	137
AP4B1	10717	broad.mit.edu	37	1	114445373	114445373	+	Silent	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:114445373A>G	ENST00000369569.1	-	2	505	c.225T>C	c.(223-225)taT>taC	p.Y75Y	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Intron|DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000369566.3_Silent_p.Y75Y|AP4B1_ENST00000256658.4_Silent_p.Y75Y	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	75					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGGGGAGCATATGTGCACA	0.498																																						ENST00000369569.1	1.000000	9.200000e-01	1	9.700000e-01	0.990000	0.990683	0.990000	1.000000																										0				25						c.(223-225)taT>taC		adaptor-related protein complex 4, beta 1 subunit							156.0	127.0	137.0					1																	114445373		2203	4300	6503	SO:0001819	synonymous_variant	10717	0	0					g.chr1:114445373A>G	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.225T>C	chr1.hg19:g.114445373A>G		1					AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Silent_p.Y75Y|AP4B1_ENST00000256658.4_Silent_p.Y75Y|AP4B1-AS1_ENST00000419536.1_RNA|DCLRE1B_ENST00000369563.3_5'Flank	p.Y75Y	NM_001253852.1	NP_001240781.1	0	1	1	1.474776	Q9Y6B7	AP4B1_HUMAN		2	505	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	B7Z4X3|Q59EJ4|Q96CL6	Silent	SNP	ENST00000369569.1	1	1	hg19	c.225T>C	CCDS865.1	1																																																																																								0.440559		TCGA-2L-AAQA-01A-21D-A38G-08	0.498	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	1	0	1	2	2	2	2	0	0	0	0	149	149	149	147	1	1.890000	-20.000000	1	0.600000	NM_006594		0	135	135	0	158	157	0		1	1		0	0	149	0	0	1.000000	9.999999e-01	0	33	0	1	0	135	158
COL24A1	255631	broad.mit.edu	37	1	86590761	86590761	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:86590761C>T	ENST00000370571.2	-	3	1624	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E420K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	420					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.E420*(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCATGAGTTCGTTAGTGTGT	0.358																																						ENST00000370571.2	1.000000	8.100000e-01	9.800000e-01	8.700000e-01	0.920000	0.929221	0.920000	1.000000																										1	Substitution - Nonsense(1)	p.E420*(1)	upper_aerodigestive_tract(1)	101						c.(1258-1260)Gaa>Aaa		collagen, type XXIV, alpha 1							154.0	130.0	137.0					1																	86590761		1866	4104	5970	SO:0001583	missense	255631	1	120786	32				g.chr1:86590761C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1258G>A	chr1.hg19:g.86590761C>T	ENSP00000359603:p.Glu420Lys	1					COL24A1_ENST00000436319.1_Missense_Mutation_p.E420K	p.E420K	NM_152890.5	NP_690850.2	0	1	1	1.507771	Q17RW2	COOA1_HUMAN		3	1624	-			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	1	1	hg19	c.1258G>A	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	9.195	1.026954	0.19512	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.11821	2.74;2.74	5.45	3.24	0.37175	5.45	3.24	0.37175	.	0.000000	0.40640	N	0.001059	T	0.02418	0.0074	N	0.19112	0.55	0.35766	D	0.820548	B;B	0.27791	0.189;0.046	B;B	0.25506	0.061;0.005	T	0.29119	-1.0022	10	0.07990	T	0.79	.	10.6098	0.45415	0.0:0.8214:0.0:0.1786	.	420;420	F8WDM8;Q17RW2	.;COOA1_HUMAN	K	420	ENSP00000359603:E420K;ENSP00000392531:E420K	ENSP00000359603:E420K	E	-	1	0	0	COL24A1	86363349	86363349	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.119000	0.41958	1.307000	0.44944	0.563000	0.77884	GAA	0.431010		TCGA-2L-AAQA-01A-21D-A38G-08	0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	1	0	1	2	2	2	2	0	0	0	0	130	130	130	130	1	1.890000	-20.000000	1	0.600000	NM_152890		0	127	126	0	186	182	1		1			0	0	130	0	0	1.000000	0	0	0	0	0	0	127	186
ASTN1	460	broad.mit.edu	37	1	176833536	176833536	+	Missense_Mutation	SNP	C	C	T	rs538221544		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:176833536C>T	ENST00000367654.3	-	23	4004	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	ASTN1_ENST00000361833.2_Missense_Mutation_p.E1257K|ASTN1_ENST00000367657.3_Intron	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1265					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTTTGATCTCGCTGTAGCGG	0.587																																						ENST00000367654.3	0.700000	4.700000e-01	6.500000e-01	5.200000e-01	0.580000	0.589959	0.580000	0.580000																										0				153						c.(3793-3795)Gag>Aag		astrotactin 1							92.0	90.0	91.0					1																	176833536		2203	4300	6503	SO:0001583	missense	460	1	121412	31				g.chr1:176833536C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3793G>A	chr1.hg19:g.176833536C>T	ENSP00000356626:p.Glu1265Lys	1					ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Missense_Mutation_p.E1257K	p.E1265K	NM_004319.1	NP_004310.1	1	2	3	2.711459	O14525	ASTN1_HUMAN		23	4004	-			A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	1	1	hg19	c.3793G>A		0	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600256	0.87055	.	.	ENSG00000152092	ENST00000361833;ENST00000367654	T;T	0.14022	2.55;2.54	4.61	4.61	0.57282	4.61	4.61	0.57282	.	0.047461	0.85682	D	0.000000	T	0.09774	0.0240	L	0.27053	0.805	0.80722	D	1	P	0.50710	0.938	B	0.33454	0.164	T	0.12218	-1.0556	10	0.87932	D	0	-23.1216	17.4153	0.87498	0.0:1.0:0.0:0.0	.	1257	O14525-2	.	K	1257;1265	ENSP00000354536:E1257K;ENSP00000356626:E1265K	ENSP00000354536:E1257K	E	-	1	0	0	ASTN1	175100159	175100159	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.018000	0.76406	2.282000	0.76494	0.555000	0.69702	GAG	0.692308		TCGA-2L-AAQA-01A-21D-A38G-08	0.587	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	2	2	2	2	0	0	0	0	168	168	168	164	1	1.890000	-3.221886	1	0.600000	NM_004319		0	93	92	0	595	586	1		1			0	0	168	0	0	1.000000	0	0	0	0	0	0	93	595
TSHZ2	128553	broad.mit.edu	37	20	51871827	51871827	+	Silent	SNP	G	G	A	rs147016688	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:51871827G>A	ENST00000371497.5	+	2	2717	c.1830G>A	c.(1828-1830)gcG>gcA	p.A610A	TSHZ2_ENST00000603338.2_Silent_p.A607A|TSHZ2_ENST00000329613.6_Silent_p.A607A|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	610					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A610A(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGATGAAGCGGTGAAGGAGT	0.502																																						ENST00000371497.5	0.940000	6.900000e-01	8.800000e-01	7.500000e-01	0.810000	0.819403	0.810000	0.810000																										1	Substitution - coding silent(1)	p.A610A(1)	large_intestine(1)	84						c.(1828-1830)gcG>gcA		teashirt zinc finger homeobox 2							92.0	93.0	93.0					20																	51871827		2203	4300	6503	SO:0001819	synonymous_variant	128553	9	121412	46				g.chr20:51871827G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1830G>A	chr20.hg19:g.51871827G>A		0					TSHZ2_ENST00000603338.2_Silent_p.A607A|TSHZ2_ENST00000329613.6_Silent_p.A607A|RP4-678D15.1_ENST00000606932.1_RNA	p.A610A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	0	0	0	2.045390	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)	2	2717	+			B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	1	1	hg19	c.1830G>A	CCDS33490.1	0																																																																																								0.597586		TCGA-2L-AAQA-01A-21D-A38G-08	0.502	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	1	0	1	2	2	2	2	0	0	0	0	164	164	164	160	1	1.890000	-5.034111	1	0.600000	NM_173485		0	130	130	0	397	395	1		1	0		0	0	164	0	0	1.000000	3.622207e-01	0	0	0	5	0	130	397
DSCAM	1826	broad.mit.edu	37	21	41385178	41385178	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr21:41385178G>A	ENST00000400454.1	-	33	6299	c.5822C>T	c.(5821-5823)aCg>aTg	p.T1941M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1941				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCCAGGACCGTGGGGCGCTT	0.627																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1	1.000000	8.000000e-01	1	8.800000e-01	0.960000	0.951129	0.960000	1.000000																										0				142						c.(5821-5823)aCg>aTg		Down syndrome cell adhesion molecule							38.0	41.0	40.0					21																	41385178		1960	4142	6102	SO:0001583	missense	1826	2	120890	32				g.chr21:41385178G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5822C>T	chr21.hg19:g.41385178G>A	ENSP00000383303:p.Thr1941Met	0						p.T1941M	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	1	2	3	2.084981	O60469	DSCAM_HUMAN		33	6299	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	O60468	Missense_Mutation	SNP	ENST00000400454.1	1	1	hg19	c.5822C>T	CCDS42929.1	1	.	.	.	.	.	.	.	.	.	.	.	19.61	3.860756	0.71834	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.59638	0.25;0.36	5.29	5.29	0.74685	5.29	5.29	0.74685	.	0.345440	0.33180	N	0.005197	T	0.38585	0.1046	N	0.08118	0	0.43073	D	0.994714	P	0.48640	0.913	B	0.36666	0.23	T	0.52931	-0.8509	10	0.72032	D	0.01	.	18.9499	0.92637	0.0:0.0:1.0:0.0	.	1941	O60469	DSCAM_HUMAN	M	1941;1675	ENSP00000383303:T1941M;ENSP00000385342:T1675M	ENSP00000383303:T1941M	T	-	2	0	0	DSCAM	40307048	40307048	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.219000	0.95173	2.464000	0.83262	0.557000	0.71058	ACG	0.601196		TCGA-2L-AAQA-01A-21D-A38G-08	0.627	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	0	0	1	2	12	2	2	1	1	1	1	99	99	99	97	1	1.890000	-20.000000	1	0.600000	NM_001389		0	87	87	0	212	208	1		1			1	0	99	0	0	1.000000	0	0	0	0	0	0	87	212
TRIOBP	11078	broad.mit.edu	37	22	38153721	38153721	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:38153721G>A	ENST00000406386.3	+	16	6044	c.5789G>A	c.(5788-5790)cGg>cAg	p.R1930Q	TRIOBP_ENST00000407319.2_Missense_Mutation_p.R217Q|TRIOBP_ENST00000403663.2_Missense_Mutation_p.R217Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1930					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GTCATCAGCCGGGGTGGCCCT	0.701																																						ENST00000406386.3	1.000000	8.700000e-01	1	9.900000e-01	0.990000	0.992558	0.990000	1.000000																										0				12						c.(5788-5790)cGg>cAg		TRIO and F-actin binding protein							12.0	14.0	14.0					22																	38153721		2177	4278	6455	SO:0001583	missense	11078	4	119488	28				g.chr22:38153721G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5789G>A	chr22.hg19:g.38153721G>A	ENSP00000384312:p.Arg1930Gln	0					TRIOBP_ENST00000403663.2_Missense_Mutation_p.R217Q|TRIOBP_ENST00000407319.2_Missense_Mutation_p.R217Q	p.R1930Q	NM_001039141.2	NP_001034230.1	1	2	3	2.121955	Q9H2D6	TARA_HUMAN		16	6044	+	Melanoma(58;0.0574)		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	0	1	hg19	c.5789G>A	CCDS43015.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561208	0.86335	.	.	ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000417857	T	0.26957	1.7	5.5	5.5	0.81552	5.5	5.5	0.81552	.	.	.	.	.	T	0.43055	0.1230	M	0.76574	2.34	0.31902	N	0.615782	D;D;D	0.71674	0.993;0.994;0.998	P;P;P	0.53760	0.713;0.734;0.608	T	0.56505	-0.7968	9	0.66056	D	0.02	.	13.1341	0.59399	0.0828:0.0:0.9172:0.0	.	217;217;1930	F8W6V6;F2Z2W0;Q9H2D6	.;.;TARA_HUMAN	Q	1930;217;217;176;146	ENSP00000384312:R1930Q	ENSP00000386026:R217Q	R	+	2	0	0	TRIOBP	36483667	36483667	0.999000	0.42202	0.997000	0.53966	0.785000	0.44390	3.643000	0.54374	2.580000	0.87095	0.555000	0.69702	CGG	0.605911		TCGA-2L-AAQA-01A-21D-A38G-08	0.701	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2	1	0	1	2	2	2	2	0	0	0	0	11	11	11	11	1	1.890000	-20.000000	1	0.600000			0	11	11	0	14	12	1		1	1		0	0	11	0	0	0.999115	1	0	131	0	133	0	11	14
TRIOBP	11078	broad.mit.edu	37	22	38165362	38165362	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:38165362C>T	ENST00000406386.3	+	21	7084	c.6829C>T	c.(6829-6831)Cgg>Tgg	p.R2277W	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R564W	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2277					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGCAACGAGCGGAGTTCCTG	0.667																																						ENST00000406386.3	1.000000	2.900000e-01	7.500000e-01	4.100000e-01	0.550000	0.582761	0.550000	0.530000																										0				12						c.(6829-6831)Cgg>Tgg		TRIO and F-actin binding protein							14.0	17.0	16.0					22																	38165362		1982	4164	6146	SO:0001583	missense	11078	3	120778	35				g.chr22:38165362C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6829C>T	chr22.hg19:g.38165362C>T	ENSP00000384312:p.Arg2277Trp	0					TRIOBP_ENST00000403663.2_Missense_Mutation_p.R564W	p.R2277W	NM_001039141.2	NP_001034230.1	1	2	3	2.121955	Q9H2D6	TARA_HUMAN		21	7084	+	Melanoma(58;0.0574)		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	1	1	hg19	c.6829C>T	CCDS43015.1	0	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193152	0.58017	.	.	ENSG00000100106	ENST00000406386;ENST00000403663	T	0.23950	1.88	4.96	0.994	0.19832	4.96	0.994	0.19832	.	.	.	.	.	T	0.44265	0.1285	L	0.53249	1.67	0.44711	D	0.997706	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.971;0.989;0.976	T	0.48305	-0.9047	9	0.87932	D	0	.	14.7584	0.69588	0.5226:0.4774:0.0:0.0	.	2179;266;564;2277	Q9H2D6-2;Q8TCM3;F8W6V6;Q9H2D6	.;.;.;TARA_HUMAN	W	2277;564	ENSP00000384312:R2277W	ENSP00000386026:R564W	R	+	1	2	2	TRIOBP	36495308	36495308	1.000000	0.71417	0.989000	0.46669	0.459000	0.32528	0.925000	0.28791	0.428000	0.26173	0.462000	0.41574	CGG	0.605911		TCGA-2L-AAQA-01A-21D-A38G-08	0.667	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2	1	0	1	2	2	2	2	0	0	0	0	19	19	19	18	1	1.890000	-18.667730	1	0.600000			0	10	9	0	53	53	1		1	1		0	0	19	0	0	0.997463	1	0	181	0	229	0	10	53
UXS1	80146	broad.mit.edu	37	2	106710580	106710580	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:106710580G>A	ENST00000409501.3	-	15	1222	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y	UXS1_ENST00000540130.1_Missense_Mutation_p.H332Y|UXS1_ENST00000409032.1_Missense_Mutation_p.H221Y|UXS1_ENST00000283148.7_Missense_Mutation_p.H394Y			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	389					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CGGAAGTAGTGAATTGCTTTG	0.473																																						ENST00000409501.3	1.000000	7.300000e-01	9.800000e-01	8.100000e-01	0.890000	0.895344	0.890000	1.000000																										0				17						c.(1165-1167)Cac>Tac		UDP-glucuronate decarboxylase 1							219.0	208.0	212.0					2																	106710580		1960	4143	6103	SO:0001583	missense	80146	0	0					g.chr2:106710580G>A	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.1165C>T	chr2.hg19:g.106710580G>A	ENSP00000387019:p.His389Tyr	0					UXS1_ENST00000409032.1_Missense_Mutation_p.H221Y|UXS1_ENST00000283148.7_Missense_Mutation_p.H394Y|UXS1_ENST00000540130.1_Missense_Mutation_p.H332Y	p.H389Y			0	0	0	2.070463	Q8NBZ7	UXS1_HUMAN		15	1222	-			Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	1	1	hg19	c.1165C>T	CCDS46378.1	1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287260	0.59867	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.046027	0.85682	D	0.000000	T	0.54647	0.1871	L	0.43923	1.385	0.80722	D	1	B;B;B	0.19817	0.039;0.023;0.023	B;B;B	0.14578	0.011;0.005;0.008	T	0.51748	-0.8666	10	0.72032	D	0.01	-10.5314	19.7704	0.96361	0.0:0.0:1.0:0.0	.	394;389;394	Q8NBZ7-2;Q8NBZ7;A8K3Q3	.;UXS1_HUMAN;.	Y	394;332;389;221	ENSP00000283148:H394Y;ENSP00000438265:H332Y;ENSP00000387019:H389Y;ENSP00000387096:H221Y	ENSP00000283148:H394Y	H	-	1	0	0	UXS1	106077012	106077012	1.000000	0.71417	0.981000	0.43875	0.998000	0.95712	9.266000	0.95659	2.670000	0.90874	0.563000	0.77884	CAC	0.600000		TCGA-2L-AAQA-01A-21D-A38G-08	0.473	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	1	0	1	2	2	2	2	0	0	0	0	108	108	108	108	1	1.890000	-20.000000	1	0.600000	NM_025076.3		0	80	80	0	217	214	1		1	1		0	0	108	0	0	1.000000	1	0	33	0	80	0	80	217
TRIB2	28951	broad.mit.edu	37	2	12858610	12858610	+	Silent	SNP	T	T	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:12858610T>G	ENST00000405331.3	+	1	247	c.177T>G	c.(175-177)tcT>tcG	p.S59S	TRIB2_ENST00000155926.4_Silent_p.S59S|RP11-333O1.1_ENST00000569860.1_lincRNA|TRIB2_ENST00000381465.2_Intron					tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATTGCGTTTCTTGTATCGGGA	0.567											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000405331.3	1.000000	8.100000e-01	1	8.700000e-01	0.930000	0.937002	0.930000	1.000000																										0				19						c.(175-177)tcT>tcG		tribbles pseudokinase 2							77.0	82.0	80.0					2																	12858610		2203	4300	6503	SO:0001819	synonymous_variant	28951	0	0					g.chr2:12858610T>G	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.177T>G	chr2.hg19:g.12858610T>G		0		OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	TRIB2_ENST00000155926.4_Silent_p.S59S|TRIB2_ENST00000381465.2_Intron|RP11-333O1.1_ENST00000569860.1_lincRNA	p.S59S			0	0	0	2.066531				1	247	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Silent	SNP	ENST00000405331.3	1	1	hg19	c.177T>G		1																																																																																								0.600000		TCGA-2L-AAQA-01A-21D-A38G-08	0.567	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	1	0	1	2	2	2	2	0	0	0	0	151	151	151	150	1	1.890000	-20.000000	1	0.600000	NM_021643		0	146	143	0	370	366	1		1	1		0	0	151	0	0	1.000000	1	0	26	0	51	0	146	370
INHBB	3625	broad.mit.edu	37	2	121106698	121106698	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:121106698C>T	ENST00000295228.3	+	2	518	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	158					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CTCCCGGGTCCGCCTATACTT	0.557																																						ENST00000295228.3	1.000000	7.700000e-01	1	8.400000e-01	0.920000	0.921713	0.920000	1.000000																										0				15						c.(472-474)Cgc>Tgc		inhibin, beta B							56.0	60.0	59.0					2																	121106698		2203	4300	6503	SO:0001583	missense	3625	1	121410	32				g.chr2:121106698C>T		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.472C>T	chr2.hg19:g.121106698C>T	ENSP00000295228:p.Arg158Cys	0						p.R158C	NM_002193.2	NP_002184.2	0	0	0	2.070463	P09529	INHBB_HUMAN		2	518	+		Prostate(154;0.122)	Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	1	1	hg19	c.472C>T	CCDS2132.1	1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070536	0.55539	.	.	ENSG00000163083	ENST00000295228	T	0.66995	-0.24	5.09	5.09	0.68999	5.09	5.09	0.68999	Transforming growth factor-beta, N-terminal (1);	0.216528	0.39210	N	0.001426	T	0.61751	0.2372	L	0.54323	1.7	0.47698	D	0.999492	B	0.17667	0.023	B	0.12837	0.008	T	0.60667	-0.7218	10	0.59425	D	0.04	-3.9508	12.8184	0.57679	0.1636:0.8364:0.0:0.0	.	158	P09529	INHBB_HUMAN	C	158	ENSP00000295228:R158C	ENSP00000295228:R158C	R	+	1	0	0	INHBB	120823168	120823168	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	1.726000	0.38085	2.804000	0.96469	0.655000	0.94253	CGC	0.600000		TCGA-2L-AAQA-01A-21D-A38G-08	0.557	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1	1	0	1	2	2	2	2	0	0	0	0	155	155	155	153	1	1.890000	-7.065246	1	0.600000			0	109	109	0	283	281	1		1	0		0	0	155	0	0	1.000000	8.852491e-01	0	0	0	12	0	109	283
PPM1G	5496	broad.mit.edu	37	2	27607706	27607706	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:27607706C>T	ENST00000344034.4	-	5	923	c.659G>A	c.(658-660)cGt>cAt	p.R220H	PPM1G_ENST00000350803.4_Missense_Mutation_p.R220H	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	220					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTCAGTCCCACGTTCCGAGTT	0.572																																						ENST00000344034.4	0.200000	7.000000e-02	1.700000e-01	9.000000e-02	0.120000	0.135982	0.120000	0.130000																										0				19						c.(658-660)cGt>cAt		protein phosphatase, Mg2+/Mn2+ dependent, 1G							136.0	117.0	123.0					2																	27607706		2203	4300	6503	SO:0001583	missense	5496	0	0					g.chr2:27607706C>T	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.659G>A	chr2.hg19:g.27607706C>T	ENSP00000342778:p.Arg220His	0					PPM1G_ENST00000350803.4_Missense_Mutation_p.R220H	p.R220H	NM_177983.2	NP_817092.1	0	0	0	2.066531	O15355	PPM1G_HUMAN		5	923	-	Acute lymphoblastic leukemia(172;0.155)			Missense_Mutation	SNP	ENST00000344034.4	1	1	hg19	c.659G>A	CCDS1752.1	0	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335465	0.24253	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412	T;T	0.44083	0.93;0.93	5.75	2.95	0.34219	5.75	2.95	0.34219	Protein phosphatase 2C-like (3);	0.608394	0.16245	N	0.222966	T	0.27663	0.0680	L	0.36672	1.1	0.27600	N	0.948996	B	0.02656	0.0	B	0.01281	0.0	T	0.21245	-1.0251	10	0.21014	T	0.42	0.2289	5.1636	0.15073	0.0:0.5481:0.1408:0.3111	.	220	O15355	PPM1G_HUMAN	H	220;220;203	ENSP00000342778:R220H;ENSP00000264714:R220H	ENSP00000342778:R220H	R	-	2	0	0	PPM1G	27461210	27461210	0.997000	0.39634	0.997000	0.53966	0.986000	0.74619	1.019000	0.30014	0.348000	0.23949	0.655000	0.94253	CGT	0.600000		TCGA-2L-AAQA-01A-21D-A38G-08	0.572	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	1	0	1	2	2	2	2	0	0	0	0	113	113	113	112	1	1.890000	-4.127870	1	0.600000	NM_002707		0	16	16	0	398	388	0		1	1		0	0	113	0	0	0.999922	9.996773e-01	0	11	0	322	0	16	398
ITGA6	3655	broad.mit.edu	37	2	173333979	173333979	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:173333979T>A	ENST00000264106.6	+	4	717	c.514T>A	c.(514-516)Tgg>Agg	p.W172R	ITGA6_ENST00000409080.1_Missense_Mutation_p.W172R|ITGA6_ENST00000343713.4_Missense_Mutation_p.W172R|ITGA6_ENST00000375221.2_Missense_Mutation_p.W172R|ITGA6_ENST00000409532.1_Missense_Mutation_p.W58R|ITGA6_ENST00000264107.7_Missense_Mutation_p.W172R			P23229	ITA6_HUMAN	integrin, alpha 6	172					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGGGGGAGATTGGAGCTTTTG	0.448																																						ENST00000264106.6	1.000000	9.000000e-01	1	9.500000e-01	0.990000	0.984398	0.990000	1.000000																										0				44						c.(514-516)Tgg>Agg		integrin, alpha 6							176.0	169.0	171.0					2																	173333979		2203	4300	6503	SO:0001583	missense	3655	0	0					g.chr2:173333979T>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.514T>A	chr2.hg19:g.173333979T>A	ENSP00000264106:p.Trp172Arg	0					ITGA6_ENST00000409532.1_Missense_Mutation_p.W58R|ITGA6_ENST00000264107.7_Missense_Mutation_p.W172R|ITGA6_ENST00000409080.1_Missense_Mutation_p.W172R|ITGA6_ENST00000375221.2_Missense_Mutation_p.W172R|ITGA6_ENST00000343713.4_Missense_Mutation_p.W172R	p.W172R			0	0	0	2.070463	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)	4	717	+			B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	1	1	hg19	c.514T>A		1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597715	0.66332	.	.	ENSG00000091409	ENST00000412899;ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.68943	0.3056	M	0.77406	2.37	0.80722	D	1	B;B;P	0.43578	0.313;0.448;0.811	B;P;P	0.54346	0.279;0.55;0.749	T	0.66748	-0.5845	10	0.33141	T	0.24	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	172;172;172	P23229-4;G5E9H1;P23229-2	.;.;.	R	58;58;172;172;172;172;172;172;172	ENSP00000413470:W58R;ENSP00000386614:W58R;ENSP00000264107:W172R;ENSP00000264106:W172R;ENSP00000364369:W172R;ENSP00000341078:W172R;ENSP00000386896:W172R;ENSP00000406694:W172R;ENSP00000394169:W172R	ENSP00000264106:W172R	W	+	1	0	0	ITGA6	173042225	173042225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TGG	0.600000		TCGA-2L-AAQA-01A-21D-A38G-08	0.448	ITGA6-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	2	2	2	2	0	0	0	0	249	249	249	247	1	1.890000	-14.468880	1	0.600000			0	225	223	0	514	501	1		1	1		0	0	249	0	0	1.000000	1	0	43	0	103	0	225	514
FANCD2	2177	broad.mit.edu	37	3	10107621	10107621	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:10107621C>T	ENST00000419585.1	+	25	2504	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F	FANCD2_ENST00000383807.1_Silent_p.F781F|FANCD2_ENST00000383806.1_Silent_p.F781F|FANCD2_ENST00000287647.3_Silent_p.F781F			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	781					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGCGTTCATTCATGTGTTCTC	0.393			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000419585.1	0.890000	5.700000e-01	8.200000e-01	6.500000e-01	0.730000	0.738402	0.730000	0.730000			yes	Rec		Fanconi anaemia D2	yes	Rec		Fanconi anaemia D2	3	3p26	3p26	2177	D, Mis, N, F	"""Fanconi anemia, complementation group D2"""				L	L		AML, leukemia			0				51						c.(2341-2343)ttC>ttT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							151.0	124.0	133.0					3																	10107621		2203	4300	6503	SO:0001819	synonymous_variant	2177	0	0		Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	g.chr3:10107621C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2343C>T	chr3.hg19:g.10107621C>T		0					FANCD2_ENST00000287647.3_Silent_p.F781F|FANCD2_ENST00000383806.1_Silent_p.F781F|FANCD2_ENST00000383807.1_Silent_p.F781F	p.F781F			0	0	0	2.047777	Q9BXW9	FACD2_HUMAN		25	2504	+			Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	1	1	hg19	c.2343C>T	CCDS33696.1	0																																																																																								0.597586		TCGA-2L-AAQA-01A-21D-A38G-08	0.393	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1	1	0	1	2	2	2	2	0	0	0	0	90	90	90	90	1	1.890000	-20.000000	1	0.600000			0	62	60	0	218	217	1		1	1		0	0	90	0	0	1.000000	9.137255e-01	0	6	0	11	0	62	218
GPR156	165829	broad.mit.edu	37	3	119962542	119962542	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:119962542C>T	ENST00000464295.1	-	3	623	c.178G>A	c.(178-180)Gga>Aga	p.G60R	GPR156_ENST00000315843.3_Missense_Mutation_p.G60R|GPR156_ENST00000461057.1_Missense_Mutation_p.G60R			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGCAGAAGTCCACAGCTGAGA	0.433																																						ENST00000464295.1	1.000000	8.400000e-01	1	9.100000e-01	0.990000	0.970078	0.990000	1.000000																										0				32						c.(178-180)Gga>Aga		G protein-coupled receptor 156							130.0	116.0	121.0					3																	119962542		2203	4300	6503	SO:0001583	missense	165829	0	0					g.chr3:119962542C>T	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.178G>A	chr3.hg19:g.119962542C>T	ENSP00000417261:p.Gly60Arg	0					GPR156_ENST00000461057.1_Missense_Mutation_p.G60R|GPR156_ENST00000315843.3_Missense_Mutation_p.G60R	p.G60R			0	0	0	2.047777	Q8NFN8	GP156_HUMAN		3	623	-			B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	1	1	hg19	c.178G>A	CCDS2997.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949646	0.73787	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	D;D;D	0.91945	-2.94;-2.94;-2.94	5.2	4.31	0.51392	5.2	4.31	0.51392	GPCR, family 3, C-terminal (2);	0.089971	0.46758	D	0.000261	D	0.95974	0.8689	M	0.88512	2.96	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	D	0.95894	0.8909	9	.	.	.	-13.3173	10.9026	0.47059	0.187:0.813:0.0:0.0	.	60;60	E9PFZ4;Q8NFN8	.;GP156_HUMAN	R	60	ENSP00000417261:G60R;ENSP00000324553:G60R;ENSP00000418758:G60R	.	G	-	1	0	0	GPR156	121445232	121445232	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.539000	0.60657	1.385000	0.46445	0.650000	0.86243	GGA	0.597586		TCGA-2L-AAQA-01A-21D-A38G-08	0.433	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	1	0	1	2	2	2	2	0	0	0	0	127	127	127	122	1	1.890000	-8.936694	1	0.600000	NM_153002		0	118	118	0	273	271	1		1	0		0	0	127	0	0	1.000000	0	0	0	0	1	0	118	273
ITPR1	3708	broad.mit.edu	37	3	4722339	4722339	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:4722339G>A	ENST00000443694.2	+	22	3025	c.3025G>A	c.(3025-3027)Gga>Aga	p.G1009R	ITPR1_ENST00000423119.2_Missense_Mutation_p.G1015R|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1000R|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.G1024R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G1009R|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1015R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1024					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AACATCCTCCGGAAACAGCAG	0.433																																						ENST00000443694.2	1.000000	8.900000e-01	1	9.900000e-01	0.990000	0.992010	0.990000	1.000000																										0				106						c.(3025-3027)Gga>Aga		inositol 1,4,5-trisphosphate receptor, type 1	Caffeine(DB00201)						61.0	60.0	60.0					3																	4722339		1876	4104	5980	SO:0001583	missense	3708	0	0					g.chr3:4722339G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3025G>A	chr3.hg19:g.4722339G>A	ENSP00000401671:p.Gly1009Arg	0					ITPR1_ENST00000354582.6_Missense_Mutation_p.G1024R|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1015R|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1015R|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1000R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G1009R|ITPR1_ENST00000544951.1_Intron	p.G1009R			0	0	0	2.047777	Q14643	ITPR1_HUMAN		22	3025	+			E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	1	1	hg19	c.3025G>A	CCDS54551.1	1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700462	0.48307	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.236966	0.43260	D	0.000598	T	0.50735	0.1633	M	0.69358	2.11	0.80722	D	1	B;B;P	0.36837	0.308;0.311;0.571	B;B;B	0.32090	0.027;0.02;0.14	T	0.50320	-0.8842	10	0.26408	T	0.33	.	17.7004	0.88293	0.0:0.0:1.0:0.0	.	1009;1024;1015	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	R	1024;1009;1024;1015;1015;1000;1009	ENSP00000306253:G1009R;ENSP00000346595:G1024R;ENSP00000405934:G1015R;ENSP00000349597:G1015R;ENSP00000397885:G1000R;ENSP00000401671:G1009R	ENSP00000306253:G1009R	G	+	1	0	0	ITPR1	4697339	4697339	1.000000	0.71417	0.968000	0.41197	0.959000	0.62525	6.688000	0.74557	2.599000	0.87857	0.591000	0.81541	GGA	0.597586		TCGA-2L-AAQA-01A-21D-A38G-08	0.433	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	0	0	1	2	11	2	2	1	1	1	1	67	67	67	67	1	1.890000	-20.000000	1	0.600000	NM_002222		0	65	65	0	128	126	1		1	0		1	0	67	0	0	1.000000	1.156986e-01	0	0	0	2	0	65	128
TOP2B	7155	broad.mit.edu	37	3	25674236	25674236	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:25674236A>G	ENST00000264331.4	-	9	1075	c.1076T>C	c.(1075-1077)aTt>aCt	p.I359T	TOP2B_ENST00000435706.2_Missense_Mutation_p.I354T	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	359					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	AACTACTTCAATCAGTTTACC	0.328																																						ENST00000264331.4	0.100000	2.000000e-02	8.000000e-02	3.000000e-02	0.050000	0.059260	0.050000	0.060000																										0				36						c.(1075-1077)aTt>aCt		topoisomerase (DNA) II beta 180kDa	Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)						155.0	152.0	153.0					3																	25674236		1859	4094	5953	SO:0001583	missense	7155	1	120794	34				g.chr3:25674236A>G	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1076T>C	chr3.hg19:g.25674236A>G	ENSP00000264331:p.Ile359Thr	0					TOP2B_ENST00000435706.2_Missense_Mutation_p.I354T	p.I359T	NM_001068.2	NP_001059.2	0	0	0	2.047777	Q02880	TOP2B_HUMAN		9	1075	-			Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	0	1	hg19	c.1076T>C		0	.	.	.	.	.	.	.	.	.	.	A	17.51	3.408676	0.62399	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.46063	0.88;0.88	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.53561	1.675	0.80722	D	1	B	0.25048	0.117	B	0.29440	0.102	T	0.37337	-0.9710	10	0.54805	T	0.06	-15.1386	15.4062	0.74881	1.0:0.0:0.0:0.0	.	354	Q02880-2	.	T	354;359;354	ENSP00000396704:I354T;ENSP00000264331:I359T	ENSP00000264331:I359T	I	-	2	0	0	TOP2B	25649240	25649240	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.059000	0.93902	2.032000	0.59987	0.528000	0.53228	ATT	0.597586		TCGA-2L-AAQA-01A-21D-A38G-08	0.328	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	209	209	209	205	1	1.890000	-3.327245	1	0.600000			0	11	11	0	657	648	0		1	0		0	0	209	0	0	0.998218	1.635157e-01	0	0	0	40	0	11	657
PIK3CA	5290	broad.mit.edu	37	3	178936074	178936074	+	Missense_Mutation	SNP	C	C	G	rs121913285		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:178936074C>G	ENST00000263967.3	+	10	1773	c.1616C>G	c.(1615-1617)cCt>cGt	p.P539R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	539	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.P539R(17)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACACGAGATCCTCTCTCTGAA	0.328	P539R(BT20_BREAST)|P539R(MFE296_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	1.000000	7.000000e-01	9.400000e-01	7.700000e-01	0.850000	0.862002	0.850000	1.000000	P539R(BT20_BREAST)|P539R(MFE296_ENDOMETRIUM)	57		Dom	yes			Dom	yes		3	3q26.3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""				"""E, O"""	E, O			colorectal, gastric, gliobastoma, breast		17	Substitution - Missense(17)	p.P539R(17)	breast(12)|thyroid(1)|large_intestine(1)|central_nervous_system(1)|endometrium(1)|lung(1)	5269						c.(1615-1617)cCt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	Caffeine(DB00201)						53.0	53.0	53.0					3																	178936074		1806	4068	5874	SO:0001583	missense	5290	0	0					g.chr3:178936074C>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1616C>G	chr3.hg19:g.178936074C>G	ENSP00000263967:p.Pro539Arg	0	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.P539R	NM_006218.2	NP_006209.2	1	2	3	2.084391	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)	10	1773	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	1	1	hg19	c.1616C>G	CCDS43171.1	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987372	0.93106	.	.	ENSG00000121879	ENST00000263967	D	0.89270	-2.49	5.78	5.78	0.91487	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	M	0.80332	2.49	0.80722	D	1	D	0.59357	0.985	D	0.63192	0.912	D	0.94197	0.7446	10	0.59425	D	0.04	-26.0829	20.0024	0.97423	0.0:1.0:0.0:0.0	.	539	P42336	PK3CA_HUMAN	R	539	ENSP00000263967:P539R	ENSP00000263967:P539R	P	+	2	0	0	PIK3CA	180418768	180418768	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CCT	0.601196		TCGA-2L-AAQA-01A-21D-A38G-08	0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2	1	0	1	2	2	2	2	0	0	0	0	103	103	103	105	1	1.890000	-5.078832	1	0.600000			0	87	82	0	251	242	1		1	1		0	0	103	0	0	1.000000	9.932764e-01	0	9	0	16	0	87	251
DCHS2	54798	broad.mit.edu	37	4	155156138	155156138	+	Silent	SNP	C	C	T	rs572747172		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:155156138C>T	ENST00000357232.4	-	25	8300	c.8301G>A	c.(8299-8301)acG>acA	p.T2767T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2767					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATCAGAGGTCGTCTGAGTTG	0.418																																						ENST00000357232.4	0.160000	4.000000e-02	1.300000e-01	6.000000e-02	0.090000	0.100455	0.090000	0.090000																										0				176						c.(8299-8301)acG>acA		dachsous cadherin-related 2							100.0	95.0	97.0					4																	155156138		2203	4300	6503	SO:0001819	synonymous_variant	54798	1	121408	36				g.chr4:155156138C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8301G>A	chr4.hg19:g.155156138C>T		1						p.T2767T	NM_017639.3	NP_060109.2	0	1	1	1.574951	Q6V1P9	PCD23_HUMAN		25	8300	-	all_hematologic(180;0.208)	Renal(120;0.0854)	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	1	1	hg19	c.8301G>A	CCDS3785.1	0																																																																																								0.454297		TCGA-2L-AAQA-01A-21D-A38G-08	0.418	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	0	0	1	2	2	2	2	0	0	0	0	151	151	151	150	1	1.890000	-3.831311	1	0.600000	NM_001142552		0	12	12	0	301	299	0		1			0	0	151	0	0	0.999129	0	0	0	0	0	0	12	301
CTNND2	1501	broad.mit.edu	37	5	10973809	10973809	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:10973809A>C	ENST00000304623.8	-	22	3623	c.3434T>G	c.(3433-3435)gTc>gGc	p.V1145G	CTNND2_ENST00000511377.1_Missense_Mutation_p.V1054G|CTNND2_ENST00000503622.1_Missense_Mutation_p.V808G|CTNND2_ENST00000458100.2_Missense_Mutation_p.V712G|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.V1087G	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1145					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCCTGTGGGACTGGCTGTGC	0.522																																						ENST00000304623.8	1.000000	7.900000e-01	1	8.700000e-01	0.950000	0.943457	0.950000	1.000000																										0				136						c.(3433-3435)gTc>gGc		catenin (cadherin-associated protein), delta 2							85.0	77.0	79.0					5																	10973809		2203	4300	6503	SO:0001583	missense	1501	0	0					g.chr5:10973809A>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3434T>G	chr5.hg19:g.10973809A>C	ENSP00000307134:p.Val1145Gly	0					CTNND2_ENST00000503622.1_Missense_Mutation_p.V808G|CTNND2_ENST00000458100.2_Missense_Mutation_p.V712G|CTNND2_ENST00000511377.1_Missense_Mutation_p.V1054G|CTNND2_ENST00000359640.2_Missense_Mutation_p.V1087G|CTNND2_ENST00000495388.2_5'UTR	p.V1145G	NM_001332.2	NP_001323.1	0	1	1	2.058923	Q9UQB3	CTND2_HUMAN		22	3623	-			B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	1	1	hg19	c.3434T>G	CCDS3881.1	1	.	.	.	.	.	.	.	.	.	.	A	6.986	0.551943	0.13374	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.78595	-1.08;-1.15;-1.07;-1.19;-1.19	5.93	2.29	0.28610	5.93	2.29	0.28610	.	0.757929	0.12479	N	0.465306	T	0.57021	0.2025	N	0.08118	0	0.80722	D	1	B;B;B	0.26318	0.002;0.035;0.146	B;B;B	0.24974	0.004;0.012;0.057	T	0.35943	-0.9768	10	0.26408	T	0.33	-15.0539	9.4259	0.38578	0.8:0.0:0.2:0.0	.	808;737;1145	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	G	1145;1087;1054;240;712;808	ENSP00000307134:V1145G;ENSP00000352661:V1087G;ENSP00000426510:V1054G;ENSP00000391155:V712G;ENSP00000426887:V808G	ENSP00000307134:V1145G	V	-	2	0	0	CTNND2	11026809	11026809	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	4.062000	0.57492	0.162000	0.19483	0.533000	0.62120	GTC	0.598796		TCGA-2L-AAQA-01A-21D-A38G-08	0.522	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	0	0	1	2	2	2	2	0	0	0	0	111	111	111	110	1	1.890000	-20.000000	1	0.600000	NM_001332		0	85	83	0	209	206	1		1			0	0	111	0	0	1.000000	0	0	0	0	0	0	85	209
SRFBP1	153443	broad.mit.edu	37	5	121362757	121362757	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:121362757G>A	ENST00000339397.4	+	8	1298	c.1226G>A	c.(1225-1227)aGg>aAg	p.R409K	SRFBP1_ENST00000504881.1_Intron	NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		GCAAGCAGAAGGCGAAAAGAA	0.368																																						ENST00000339397.4	1.000000	9.900000e-01	1	9.900000e-01	0.990000	0.999849	0.990000	1.000000																										0				15						c.(1225-1227)aGg>aAg		serum response factor binding protein 1							47.0	45.0	46.0					5																	121362757		1835	4088	5923	SO:0001583	missense	153443	0	0					g.chr5:121362757G>A	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.1226G>A	chr5.hg19:g.121362757G>A	ENSP00000341324:p.Arg409Lys	0					SRFBP1_ENST00000504881.1_Intron	p.R409K	NM_152546.2	NP_689759.2	0	1	1	2.058923			KIRC - Kidney renal clear cell carcinoma(527;0.206)	8	1298	+		all_cancers(142;0.0124)|Prostate(80;0.0322)		Missense_Mutation	SNP	ENST00000339397.4	1	1	hg19	c.1226G>A	CCDS43354.1	1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569176	0.28003	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.76	-0.243	0.13035	5.76	-0.243	0.13035	Bud-site selection protein, BUD22 (1);	0.337294	0.36303	N	0.002678	T	0.30479	0.0766	N	0.16368	0.405	0.34634	D	0.719936	B	0.17038	0.02	B	0.17433	0.018	T	0.29366	-1.0014	9	0.13853	T	0.58	-6.0429	11.318	0.49403	0.5482:0.0:0.4518:0.0	.	409	Q8NEF9	SRFB1_HUMAN	K	409	.	ENSP00000341324:R409K	R	+	2	0	0	SRFBP1	121390656	121390656	1.000000	0.71417	0.984000	0.44739	0.962000	0.63368	1.433000	0.34947	0.003000	0.14656	0.655000	0.94253	AGG	0.598796		TCGA-2L-AAQA-01A-21D-A38G-08	0.368	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	1	0	1	2	2	2	2	0	0	0	0	121	121	121	120	1	1.890000	-20.000000	1	0.600000	NM_152546		0	130	129	0	228	222	1		1	1		0	0	121	0	0	1.000000	9.999987e-01	0	27	0	12	0	130	228
DND1	373863	broad.mit.edu	37	5	140052939	140052939	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140052939G>A	ENST00000542735.1	-	2	102	c.59C>T	c.(58-60)gCg>gTg	p.A20V	HARS_ENST00000504156.1_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	20					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCGCCGCCTTGTTCTC	0.642																																						ENST00000542735.1	0.810000	5.500000e-01	7.500000e-01	6.100000e-01	0.680000	0.688942	0.680000	0.680000																										0				5						c.(58-60)gCg>gTg		DND microRNA-mediated repression inhibitor 1							59.0	59.0	59.0					5																	140052939		2203	4300	6503	SO:0001583	missense	373863	0	0					g.chr5:140052939G>A	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.59C>T	chr5.hg19:g.140052939G>A	ENSP00000445366:p.Ala20Val	0					HARS_ENST00000504156.1_3'UTR	p.A20V	NM_194249.2	NP_919225.1	0	1	1	2.058923	Q8IYX4	DND1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	2	102	-				Missense_Mutation	SNP	ENST00000542735.1	1	1	hg19	c.59C>T	CCDS4236.1	0	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290610	0.40494	.	.	ENSG00000256453	ENST00000542735	T	0.34859	1.34	4.58	4.58	0.56647	4.58	4.58	0.56647	.	0.209202	0.33457	N	0.004895	T	0.20333	0.0489	N	0.20574	0.59	0.80722	D	1	P	0.35401	0.499	B	0.23716	0.048	T	0.06516	-1.0822	10	0.37606	T	0.19	-6.6743	12.0698	0.53609	0.0868:0.0:0.9132:0.0	.	20	Q8IYX4	DND1_HUMAN	V	20	ENSP00000445366:A20V	ENSP00000445366:A20V	A	-	2	0	0	DND1	140033123	140033123	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.251000	0.43187	2.358000	0.79984	0.462000	0.41574	GCG	0.598796		TCGA-2L-AAQA-01A-21D-A38G-08	0.642	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	1	0	1	2	2	2	2	0	0	0	0	125	125	125	122	1	1.890000	-20.000000	1	0.600000	NM_194249		0	86	84	0	331	327	0		1	1		0	0	125	0	0	1.000000	9.943920e-01	0	12	0	21	0	86	331
PCDHGA5	56110	broad.mit.edu	37	5	140745619	140745619	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140745619C>T	ENST00000518069.1	+	1	1722	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	574	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCACGGGCGTGGAGCTGG	0.622																																						ENST00000518069.1	1.000000	9.500000e-01	1	9.900000e-01	0.990000	0.997153	0.990000	1.000000																										0				18						c.(1720-1722)ggC>ggT		protocadherin gamma subfamily A, 5							111.0	123.0	119.0					5																	140745619		2203	4300	6503	SO:0001819	synonymous_variant	56110	0	0					g.chr5:140745619C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1722C>T	chr5.hg19:g.140745619C>T		0					PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.G574G	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	0	1	1	2.058923	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1722	+			Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	1	1	hg19	c.1722C>T	CCDS54925.1	1																																																																																								0.598796		TCGA-2L-AAQA-01A-21D-A38G-08	0.622	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	1	0	1	2	2	2	2	0	0	0	0	295	295	295	293	1	1.890000	-20.000000	1	0.600000	NM_018918		0	286	283	0	609	598	1		1	0		0	0	295	0	0	1.000000	6.197435e-01	0	1	0	5	0	286	609
FAT2	2196	broad.mit.edu	37	5	150885588	150885588	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150885588G>A	ENST00000261800.5	-	23	12600	c.12588C>T	c.(12586-12588)tcC>tcT	p.S4196S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4196					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)			GAGTCACTTCGGAGTGGGGGT	0.622																																						ENST00000261800.5	1.000000	8.100000e-01	1	8.700000e-01	0.930000	0.937584	0.930000	1.000000																										0				196						c.(12586-12588)tcC>tcT		FAT atypical cadherin 2							67.0	83.0	77.0					5																	150885588		2195	4294	6489	SO:0001819	synonymous_variant	2196	0	0					g.chr5:150885588G>A	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.12588C>T	chr5.hg19:g.150885588G>A		0						p.S4196S	NM_001447.2	NP_001438.1	0	1	1	2.058923	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	23	12600	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	1	1	hg19	c.12588C>T	CCDS4317.1	1	.	.	.	.	.	.	.	.	.	.	G	0.702	-0.790312	0.02884	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.02	-5.86	0.02304	5.02	-5.86	0.02304	.	.	.	.	.	.	.	.	.	.	.	0.29771	N	0.83475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4588	0.27283	0.3167:0.2335:0.4498:0.0	.	.	.	.	X	969	.	.	R	-	1	2	2	FAT2	150865781	150865781	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-2.499000	0.00968	-0.718000	0.04949	-0.459000	0.05422	CGA	0.598796		TCGA-2L-AAQA-01A-21D-A38G-08	0.622	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1	2	2	2	2	0	0	0	0	249	249	249	248	1	1.890000	-9.212538	1	0.600000	NM_001447		0	162	161	0	409	399	1		1	0		0	0	249	0	0	1.000000	0	0	0	0	1	0	162	409
FAT2	2196	broad.mit.edu	37	5	150923873	150923873	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150923873A>G	ENST00000261800.5	-	9	6827	c.6815T>C	c.(6814-6816)tTt>tCt	p.F2272S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2272	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)			CAATTGGGAAAAAGTGGGAGG	0.517																																						ENST00000261800.5	0.130000	2.000000e-02	1.000000e-01	4.000000e-02	0.060000	0.075243	0.060000	0.070000																										0				196						c.(6814-6816)tTt>tCt		FAT atypical cadherin 2							100.0	99.0	100.0					5																	150923873		2203	4300	6503	SO:0001583	missense	2196	0	0					g.chr5:150923873A>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.6815T>C	chr5.hg19:g.150923873A>G	ENSP00000261800:p.Phe2272Ser	0						p.F2272S	NM_001447.2	NP_001438.1	0	1	1	2.058923	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	9	6827	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	0	1	hg19	c.6815T>C	CCDS4317.1	0	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513047	0.64522	.	.	ENSG00000086570	ENST00000261800	T	0.32023	1.47	5.68	5.68	0.88126	5.68	5.68	0.88126	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.69860	0.3158	H	0.96604	3.85	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.81348	-0.0973	10	0.87932	D	0	.	15.938	0.79729	1.0:0.0:0.0:0.0	.	2272	Q9NYQ8	FAT2_HUMAN	S	2272	ENSP00000261800:F2272S	ENSP00000261800:F2272S	F	-	2	0	0	FAT2	150904066	150904066	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.252000	0.95491	2.167000	0.68274	0.459000	0.35465	TTT	0.598796		TCGA-2L-AAQA-01A-21D-A38G-08	0.517	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	0	0	1	2	12	2	2	1	1	1	1	137	137	137	136	1	1.890000	-8.826884	1	0.600000	NM_001447		0	9	8	0	430	424	0		0	0		1	0	137	0	0	0.314426	0	0	0	0	1	0	9	430
SGCD	6444	broad.mit.edu	37	5	155771526	155771526	+	Missense_Mutation	SNP	C	C	T	rs566181541		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:155771526C>T	ENST00000435422.3	+	2	515	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	SGCD_ENST00000517913.1_Missense_Mutation_p.R11W|SGCD_ENST00000447401.1_Missense_Mutation_p.R11W|SGCD_ENST00000337851.4_Missense_Mutation_p.R11W	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	10					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTCACCACCGGAGCACCAT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		18429	0.001		0.0	False		,,,				2504	0.0					ENST00000435422.3	1.000000	7.100000e-01	9.600000e-01	7.900000e-01	0.870000	0.878408	0.870000	1.000000																										0				24						c.(28-30)Cgg>Tgg		sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)							108.0	109.0	109.0					5																	155771526		1950	4166	6116	SO:0001583	missense	6444	5	120894	37				g.chr5:155771526C>T	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.28C>T	chr5.hg19:g.155771526C>T	ENSP00000403003:p.Arg10Trp	0					SGCD_ENST00000447401.1_Missense_Mutation_p.R11W|SGCD_ENST00000517913.1_Missense_Mutation_p.R11W|SGCD_ENST00000337851.4_Missense_Mutation_p.R11W	p.R10W	NM_001128209.1	NP_001121681.1	0	1	1	2.058923	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	2	515	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	1	1	hg19	c.28C>T	CCDS47327.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212095	0.79240	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	T;D;D;T	0.86694	1.41;-2.15;-2.16;1.41	5.59	2.34	0.29019	5.59	2.34	0.29019	.	0.051785	0.64402	D	0.000001	D	0.91297	0.7256	L	0.60455	1.87	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.996;0.999	D	0.91387	0.5132	10	0.72032	D	0.01	0.2039	14.2572	0.66060	0.5847:0.4153:0.0:0.0	.	10;11;11	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	W	11;10;11;11	ENSP00000429378:R11W;ENSP00000403003:R10W;ENSP00000338343:R11W;ENSP00000408324:R11W	ENSP00000338343:R11W	R	+	1	2	2	SGCD	155704104	155704104	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.486000	0.35530	0.624000	0.30286	0.655000	0.94253	CGG	0.598796		TCGA-2L-AAQA-01A-21D-A38G-08	0.478	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3	1	0	1	2	2	2	2	0	0	0	0	132	132	132	132	1	1.890000	-5.335612	1	0.600000			0	83	83	0	231	225	1		1	0		0	0	132	0	0	1.000000	5.914051e-01	0	0	0	7	0	83	231
HK3	3101	broad.mit.edu	37	5	176318141	176318141	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:176318141C>T	ENST00000292432.5	-	4	402	c.311G>A	c.(310-312)cGt>cAt	p.R104H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	104	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACAAAACACGCAGTGAGGC	0.602																																						ENST00000292432.5	1.000000	8.000000e-01	1	8.700000e-01	0.950000	0.944724	0.950000	1.000000																										0				47						c.(310-312)cGt>cAt		hexokinase 3 (white cell)							57.0	58.0	58.0					5																	176318141		2203	4300	6503	SO:0001583	missense	3101	7	121410	39				g.chr5:176318141C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.311G>A	chr5.hg19:g.176318141C>T	ENSP00000292432:p.Arg104His	0						p.R104H	NM_002115.2	NP_002106.2	0	1	1	2.058923	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	4	402	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	1	1	hg19	c.311G>A	CCDS4407.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504410	0.85176	.	.	ENSG00000160883	ENST00000292432	D	0.99724	-6.54	4.96	4.96	0.65561	4.96	4.96	0.65561	Hexokinase, N-terminal (1);	0.000000	0.51477	D	0.000081	D	0.99664	0.9875	M	0.87900	2.915	0.32374	N	0.55541	D	0.71674	0.998	D	0.62955	0.909	D	0.97938	1.0324	10	0.62326	D	0.03	-7.6649	17.1545	0.86787	0.0:1.0:0.0:0.0	.	104	P52790	HXK3_HUMAN	H	104	ENSP00000292432:R104H	ENSP00000292432:R104H	R	-	2	0	0	HK3	176250747	176250747	0.996000	0.38824	0.984000	0.44739	0.870000	0.49936	4.152000	0.58111	2.460000	0.83146	0.561000	0.74099	CGT	0.598796		TCGA-2L-AAQA-01A-21D-A38G-08	0.602	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1	1	0	1	2	2	2	2	0	0	0	0	95	95	95	94	1	1.890000	-20.000000	1	0.600000			0	103	102	0	254	249	1		1	0		0	0	95	0	0	1.000000	6.460933e-01	0	0	0	7	0	103	254
PPWD1	23398	broad.mit.edu	37	5	64868000	64868000	+	Missense_Mutation	SNP	G	G	A	rs150307628		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:64868000G>A	ENST00000261308.5	+	5	928	c.856G>A	c.(856-858)Gta>Ata	p.V286I	PPWD1_ENST00000538977.1_Missense_Mutation_p.V130I|PPWD1_ENST00000535264.1_Missense_Mutation_p.V256I	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	286					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCCAACCAGCGTATGTTTTTC	0.348													A|||	1	0.000199681	0.0	0.0	5008	,	,		18017	0.0		0.001	False		,,,				2504	0.0					ENST00000261308.5	1.000000	7.800000e-01	9.700000e-01	8.400000e-01	0.900000	0.908774	0.900000	1.000000																										0				19						c.(856-858)Gta>Ata		peptidylprolyl isomerase domain and WD repeat containing 1		A	ILE/VAL	1,4405	798.9+/-415.5	0,1,2202	65.0	71.0	69.0		856	5.6	1.0	5	dbSNP_134	69	3,8597	814.0+/-407.0	0,3,4297	yes	missense	PPWD1	NM_015342.2	29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	286/647	64868000	4,13002	2203	4300	6503	SO:0001583	missense	23398	0	0					g.chr5:64868000G>A	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.856G>A	chr5.hg19:g.64868000G>A	ENSP00000261308:p.Val286Ile	0					PPWD1_ENST00000535264.1_Missense_Mutation_p.V256I|PPWD1_ENST00000538977.1_Missense_Mutation_p.V130I	p.V286I	NM_015342.3	NP_056157.1	0	1	1	2.058923	Q96BP3	PPWD1_HUMAN		5	928	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	1	1	hg19	c.856G>A	CCDS3985.1	1	.	.	.	.	.	.	.	.	.	.	A	8.826	0.938643	0.18206	2.27E-4	3.49E-4	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977;ENST00000505380	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.59	5.59	0.84812	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.098404	0.64402	N	0.000003	T	0.44095	0.1277	L	0.38838	1.175	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28808	-1.0032	10	0.09338	T	0.73	.	11.6254	0.51142	0.9304:0.0:0.0695:0.0	.	256;286	F5H7P7;Q96BP3	.;PPWD1_HUMAN	I	286;256;130;205	ENSP00000261308:V286I;ENSP00000442371:V256I;ENSP00000444496:V130I;ENSP00000423234:V205I	ENSP00000261308:V286I	V	+	1	0	0	PPWD1	64903756	64903756	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.661000	0.61518	0.955000	0.37878	-0.361000	0.07541	GTA	0.598796		TCGA-2L-AAQA-01A-21D-A38G-08	0.348	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	0	0	1	2	12	2	2	1	1	1	1	204	204	204	202	1	1.890000	-20.000000	1	0.600000	NM_015342		0	156	155	0	414	412	1		1	1		1	0	204	0	0	1.000000	9.989898e-01	0	7	0	23	0	156	414
TNPO1	3842	broad.mit.edu	37	5	72195908	72195908	+	Splice_Site	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:72195908G>A	ENST00000337273.5	+	21	2840	c.2414G>A	c.(2413-2415)tGg>tAg	p.W805*	TNPO1_ENST00000506351.2_Splice_Site_p.W797*|TNPO1_ENST00000523768.1_Splice_Site_p.W755*|TNPO1_ENST00000454282.1_Splice_Site_p.W755*	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	805					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.W797*(1)|p.W797L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATAAGACCCTGGTGTGTATTA	0.348																																						ENST00000337273.5	1.000000	9.000000e-01	1	9.600000e-01	0.990000	0.989269	0.990000	1.000000																										2	Substitution - Nonsense(1)|Substitution - Missense(1)	p.W797*(1)|p.W797L(1)	urinary_tract(1)|kidney(1)	36						c.(2413-2415)tGg>tAg		transportin 1							180.0	167.0	171.0					5																	72195908		2203	4300	6503	SO:0001630	splice_region_variant	3842	0	0					g.chr5:72195908G>A	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2414+1G>A	chr5.hg19:g.72195908G>A		0					TNPO1_ENST00000454282.1_Splice_Site_p.W755*|TNPO1_ENST00000523768.1_Splice_Site_p.W755*|TNPO1_ENST00000506351.2_Splice_Site_p.W797*	p.W805*	NM_002270.3	NP_002261.3	0	1	1	2.058923	Q92973	TNPO1_HUMAN		21	2840	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	B4DVC6|Q92957|Q92975	Splice_Site	SNP	ENST00000337273.5	0	0	hg19	c.2414G>A	CCDS43329.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.879768	0.97904	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	.	.	.	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5419	19.1767	0.93605	0.0:0.0:1.0:0.0	.	.	.	.	X	805;755;755;797;316	.	ENSP00000336712:W805X	W	+	2	0	0	TNPO1	72231664	72231664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.619000	0.88677	0.467000	0.42956	TGG	0.598796		TCGA-2L-AAQA-01A-21D-A38G-08	0.348	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	1	0	1	2	2	2	2	0	0	0	0	206	206	206	205	1	1.890000	-12.030340	1	0.600000	NM_002270	Nonsense_Mutation	0	166	163	0	364	359	1		1	0		0	0	206	0	0	1.000000	1	0	1	0	59	0	166	364
OR2Y1	134083	broad.mit.edu	37	5	180166545	180166545	+	Nonsense_Mutation	SNP	G	G	A	rs372667309		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:180166545G>A	ENST00000307832.2	-	1	554	c.514C>T	c.(514-516)Cga>Tga	p.R172*		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGATTCAGTCGATGGCCACAG	0.542																																						ENST00000307832.2	1.000000	9.500000e-01	1	9.900000e-01	0.990000	0.997567	0.990000	1.000000																										0				20						c.(514-516)Cga>Tga		olfactory receptor, family 2, subfamily Y, member 1		G	stop/ARG	0,4406		0,0,2203	60.0	54.0	56.0		514	2.6	0.0	5		56	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	OR2Y1	NM_001001657.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		172/312	180166545	1,13005	2203	4300	6503	SO:0001587	stop_gained	134083	1	121412	28				g.chr5:180166545G>A	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.514C>T	chr5.hg19:g.180166545G>A	ENSP00000312403:p.Arg172*	0						p.R172*	NM_001001657.1	NP_001001657.1	0	1	1	2.058923	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	1	554	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	B9EIP1|Q6IFB1|Q96R16	Nonsense_Mutation	SNP	ENST00000307832.2	0	1	hg19	c.514C>T	CCDS34323.1	1	.	.	.	.	.	.	.	.	.	.	g	17.19	3.327676	0.60743	0.0	1.16E-4	ENSG00000174339	ENST00000307832	.	.	.	4.41	2.59	0.31030	4.41	2.59	0.31030	.	3.529880	0.00714	N	0.000849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0741	0.25195	0.0936:0.0:0.7351:0.1713	.	.	.	.	X	172	.	ENSP00000312403:R172X	R	-	1	2	2	OR2Y1	180099151	180099151	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.967000	0.01508	0.572000	0.29383	0.511000	0.50034	CGA	0.598796		TCGA-2L-AAQA-01A-21D-A38G-08	0.542	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	1	0	1	2	2	2	2	0	0	0	0	80	80	80	80	1	1.890000	-20.000000	1	0.600000	XM_068682		0	79	79	0	147	146	1		1			0	0	80	0	0	1.000000	0	0	0	0	0	0	79	147
PHF1	5252	broad.mit.edu	37	6	33382134	33382134	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:33382134C>A	ENST00000374516.3	+	9	1138	c.867C>A	c.(865-867)ctC>ctA	p.L289L	PHF1_ENST00000374512.3_Silent_p.L289L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	289					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				ACAGTTTGCTCCTGGGGGAGG	0.498											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374516.3	1.000000	9.100000e-01	1	9.800000e-01	0.990000	0.992118	0.990000	1.000000																										0				19						c.(865-867)ctC>ctA		PHD finger protein 1							96.0	99.0	98.0					6																	33382134		2203	4300	6503	SO:0001819	synonymous_variant	5252	0	0					g.chr6:33382134C>A	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.867C>A	chr6.hg19:g.33382134C>A		0		OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_ENST00000374512.3_Silent_p.L289L	p.L289L	NM_024165.2	NP_077084.1	0	0	0	1.902920	O43189	PHF1_HUMAN		9	1138	+		Ovarian(999;0.0443)	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	1	1	hg19	c.867C>A	CCDS4777.1	1																																																																																								0.563319		TCGA-2L-AAQA-01A-21D-A38G-08	0.498	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3	1	0	1	2	2	2	2	0	0	0	0	131	131	131	130	1	1.890000	-14.824100	1	0.600000			0	139	136	0	261	256	1		1	1		0	0	131	0	0	1.000000	1	0	39	0	66	0	139	261
FIGNL1	63979	broad.mit.edu	37	7	50513641	50513641	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:50513641G>T	ENST00000419119.1	-	2	2898	c.1345C>A	c.(1345-1347)Cta>Ata	p.L449I	FIGNL1_ENST00000433017.1_Missense_Mutation_p.L449I|FIGNL1_ENST00000395556.2_Missense_Mutation_p.L449I|FIGNL1_ENST00000356889.4_Missense_Mutation_p.L449I			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	449					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.L449L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGCCAATTAGAGTTTTACCA	0.458																																						ENST00000419119.1	0.100000	0	7.000000e-02	2.000000e-02	0.040000	0.051722	0.040000	0.040000																										1	Substitution - coding silent(1)	p.L449L(1)	upper_aerodigestive_tract(1)	29						c.(1345-1347)Cta>Ata		fidgetin-like 1							52.0	53.0	53.0					7																	50513641		2203	4300	6503	SO:0001583	missense	63979	0	0					g.chr7:50513641G>T	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1345C>A	chr7.hg19:g.50513641G>T	ENSP00000410811:p.Leu449Ile	0					FIGNL1_ENST00000395556.2_Missense_Mutation_p.L449I|FIGNL1_ENST00000356889.4_Missense_Mutation_p.L449I|FIGNL1_ENST00000433017.1_Missense_Mutation_p.L449I	p.L449I			0	1	1	2.061758	Q6PIW4	FIGL1_HUMAN		2	2898	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	0	1	hg19	c.1345C>A	CCDS5510.1	0	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031312	0.75504	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68	5.99	4.18	0.49190	5.99	4.18	0.49190	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	D	0.97573	0.9205	M	0.92970	3.365	0.80722	D	1	D	0.64830	0.994	D	0.76071	0.987	D	0.98137	1.0434	10	0.72032	D	0.01	-9.5128	12.3571	0.55182	0.1376:0.0:0.8624:0.0	.	449	Q6PIW4	FIGL1_HUMAN	I	449	ENSP00000349356:L449I;ENSP00000378924:L449I;ENSP00000399997:L449I;ENSP00000410811:L449I	ENSP00000349356:L449I	L	-	1	2	2	FIGNL1	50481135	50481135	1.000000	0.71417	0.899000	0.35326	0.997000	0.91878	6.779000	0.75057	1.538000	0.49270	0.655000	0.94253	CTA	0.598796		TCGA-2L-AAQA-01A-21D-A38G-08	0.458	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	0	0	1	2	2	2	2	0	0	0	0	118	118	118	118	1	1.890000	-5.581852	1	0.600000	NM_001042762		0	5	5	0	377	369	0		1	0		0	0	118	0	0	0.934399	7.323079e-03	0	0	0	8	0	5	377
ZNF3	7551	broad.mit.edu	37	7	99669508	99669508	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:99669508T>C	ENST00000424697.1	-	6	905	c.599A>G	c.(598-600)cAt>cGt	p.H200R	ZNF3_ENST00000299667.4_Missense_Mutation_p.H200R|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Missense_Mutation_p.H200R	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	200					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			ATCACACTTATGGGGTCTGTC	0.433																																						ENST00000424697.1	1.000000	8.200000e-01	1	8.800000e-01	0.950000	0.946925	0.950000	1.000000																										0				25						c.(598-600)cAt>cGt		zinc finger protein 3							86.0	93.0	91.0					7																	99669508		2146	4274	6420	SO:0001583	missense	7551	5	121164	39				g.chr7:99669508T>C	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.599A>G	chr7.hg19:g.99669508T>C	ENSP00000415358:p.His200Arg	0					ZNF3_ENST00000303915.6_Missense_Mutation_p.H200R|ZNF3_ENST00000299667.4_Missense_Mutation_p.H200R|ZNF3_ENST00000413658.2_Intron	p.H200R	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	0	1	1	2.061758	P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)	6	905	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	1	1	hg19	c.599A>G	CCDS43619.1	1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189385	0.57909	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.35421	1.31;1.31;1.31	4.6	4.6	0.57074	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000041	T	0.51584	0.1683	L	0.60845	1.875	0.37016	D	0.895972	D;D	0.63880	0.993;0.982	P;P	0.62491	0.824;0.903	T	0.61783	-0.6992	10	0.87932	D	0	-15.5748	12.2643	0.54668	0.0:0.0:0.0:1.0	.	183;200	B3KRP4;P17036	.;ZNF3_HUMAN	R	200	ENSP00000415358:H200R;ENSP00000306372:H200R;ENSP00000299667:H200R	ENSP00000299667:H200R	H	-	2	0	0	ZNF3	99507444	99507444	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	0.261000	0.18442	2.075000	0.62263	0.533000	0.62120	CAT	0.598796		TCGA-2L-AAQA-01A-21D-A38G-08	0.433	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	1	0	1	2	2	2	2	0	0	0	0	183	183	183	183	1	1.890000	-20.000000	1	0.600000	NM_017715		0	153	152	0	379	376	1		1	1		0	0	183	0	0	1.000000	9.996521e-01	0	12	0	20	0	153	379
CBLL1	79872	broad.mit.edu	37	7	107398626	107398626	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:107398626G>A	ENST00000440859.3	+	6	946	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	CBLL1_ENST00000222597.2_Missense_Mutation_p.R159Q|CBLL1_ENST00000415884.2_3'UTR	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	160	HYB domain. {ECO:0000250}.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CAGTGTACACGAGGTTCTCTC	0.378																																						ENST00000440859.3	1.000000	8.300000e-01	1	9.000000e-01	0.970000	0.962309	0.970000	1.000000																										0				21						c.(478-480)cGa>cAa		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							107.0	95.0	99.0					7																	107398626		2203	4300	6503	SO:0001583	missense	79872	6	121412	39				g.chr7:107398626G>A	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.479G>A	chr7.hg19:g.107398626G>A	ENSP00000401277:p.Arg160Gln	0					CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.R159Q	p.R160Q	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	0	1	1	2.061758	Q75N03	HAKAI_HUMAN		6	946	+			B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	1	1	hg19	c.479G>A	CCDS5747.1	1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860457	0.71834	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.32753	1.45;1.44;1.48	5.14	4.24	0.50183	5.14	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.77004	0.989;0.755	T	0.36432	-0.9748	10	0.28530	T	0.3	-2.0467	15.7175	0.77681	0.0:0.1374:0.8626:0.0	.	159;160	B7ZM03;Q75N03	.;HAKAI_HUMAN	Q	160;39;159;110;106	ENSP00000401277:R160Q;ENSP00000222597:R159Q;ENSP00000410615:R110Q	ENSP00000222597:R159Q	R	+	2	0	0	CBLL1	107185862	107185862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.543000	0.98089	1.259000	0.44117	0.655000	0.94253	CGA	0.598796		TCGA-2L-AAQA-01A-21D-A38G-08	0.378	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	1	0	1	2	2	2	2	0	0	0	0	160	160	160	158	1	1.890000	-8.710860	1	0.600000	NM_024814		0	124	123	0	295	291	1		1	1		0	0	160	0	0	1.000000	9.995125e-01	0	14	0	16	0	124	295
KIF24	347240	broad.mit.edu	37	9	34256761	34256761	+	Silent	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:34256761A>G	ENST00000402558.2	-	10	2868	c.2844T>C	c.(2842-2844)taT>taC	p.Y948Y	KIF24_ENST00000345050.2_Silent_p.Y814Y|KIF24_ENST00000379166.2_Silent_p.Y948Y|KIF24_ENST00000379174.3_Silent_p.Y814Y			Q5T7B8	KIF24_HUMAN	kinesin family member 24	948					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTTCCTGTCTATATATGAAAT	0.527																																						ENST00000402558.2	1.000000	8.800000e-01	1	9.400000e-01	0.990000	0.981744	0.990000	1.000000																										0				32						c.(2842-2844)taT>taC		kinesin family member 24							81.0	88.0	85.0					9																	34256761		2203	4300	6503	SO:0001819	synonymous_variant	347240	0	0					g.chr9:34256761A>G	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2844T>C	chr9.hg19:g.34256761A>G		0					KIF24_ENST00000345050.2_Silent_p.Y814Y|KIF24_ENST00000379166.2_Silent_p.Y948Y|KIF24_ENST00000379174.3_Silent_p.Y814Y	p.Y948Y			0	1	1	2.060315	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	10	2868	-			Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	ENST00000402558.2	1	1	hg19	c.2844T>C	CCDS6551.2	1																																																																																								0.598796		TCGA-2L-AAQA-01A-21D-A38G-08	0.527	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5	1	0	1	2	2	2	2	0	0	0	0	136	136	136	134	1	1.890000	-20.000000	1	0.600000			0	140	136	0	315	306	1		1	1		0	0	136	0	0	1.000000	2.273725e-01	0	2	0	1	0	140	315
GPSM1	26086	broad.mit.edu	37	9	139228944	139228944	+	Missense_Mutation	SNP	C	C	T	rs140085951		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:139228944C>T	ENST00000440944.1	+	2	329	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	GPSM1_ENST00000392945.3_Missense_Mutation_p.R37C	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	37	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGAGGGCGAGCGTCTGTGCAA	0.652																																						ENST00000440944.1	0.880000	4.300000e-01	7.700000e-01	5.300000e-01	0.640000	0.657670	0.640000	0.640000																										0				9						c.(109-111)Cgt>Tgt		G-protein signaling modulator 1							55.0	52.0	53.0					9																	139228944		2202	4299	6501	SO:0001583	missense	26086	1	121256	35				g.chr9:139228944C>T	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.109C>T	chr9.hg19:g.139228944C>T	ENSP00000392828:p.Arg37Cys	0					GPSM1_ENST00000392945.3_Missense_Mutation_p.R37C	p.R37C	NM_001145638.1	NP_001139110	0	0	0	2.067674	Q86YR5	GPSM1_HUMAN		2	329	+		Myeloproliferative disorder(178;0.0821)	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	1	1	hg19	c.109C>T	CCDS48055.1	0	.	.	.	.	.	.	.	.	.	.	c	19.82	3.899125	0.72754	.	.	ENSG00000160360	ENST00000392945;ENST00000440944;ENST00000354753	T;T;T	0.75477	-0.94;-0.94;-0.0	4.66	3.65	0.41850	4.66	3.65	0.41850	.	0.000000	0.64402	U	0.000001	D	0.84397	0.5463	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86778	0.1977	10	0.87932	D	0	-12.3547	14.5162	0.67821	0.1569:0.8431:0.0:0.0	.	37;37	Q86YR5;Q86YR5-3	GPSM1_HUMAN;.	C	37;37;14	ENSP00000376674:R37C;ENSP00000392828:R37C;ENSP00000346797:R14C	ENSP00000346797:R14C	R	+	1	0	0	GPSM1	138348765	138348765	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	1.805000	0.38883	2.113000	0.64589	0.556000	0.70494	CGT	0.600000		TCGA-2L-AAQA-01A-21D-A38G-08	0.652	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	2	2	2	2	0	0	0	0	39	39	39	39	1	1.890000	-20.000000	1	0.600000	NM_015597		0	24	24	0	100	98	1		1	1		0	0	39	0	0	1.000000	3.407763e-01	0	2	0	4	0	24	100
